From f73cbbc23d84d0a596df62126435b148a55d1a65 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Thu, 16 May 2024 16:25:49 +0300 Subject: [PATCH 01/14] Create mondo-nando.sssom.tsv --- src/mappings/mondo-nando.sssom.tsv | 2358 ++++++++++++++++++++++++++++ 1 file changed, 2358 insertions(+) create mode 100644 src/mappings/mondo-nando.sssom.tsv diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv new file mode 100644 index 00000000..748aef9a --- /dev/null +++ b/src/mappings/mondo-nando.sssom.tsv @@ -0,0 +1,2358 @@ +#curie_map: +# NANDO: "http://nanbyodata.jp/ontology/NANDO_" +# MONDO: "http://purl.obolibrary.org/obo/MONDO_" +# orcid: "https://orcid.org/" +#creator_id: +# - "orcid:0000-0003-0011-764X" +# - "orcid:0000-0002-0170-9172" +#license: "https://creativecommons.org/licenses/by/4.0/" +#mapping_set_title: "NANDO - Mondo mappings provided by nanbyodata.jp" +#mapping_set_description: "This mapping set is manually curated by the NANDO team at nanbyodata.jp." +#mapping_provider: "http://nanbyodata.jp" +subject_id subject_label predicate_id object_id object_label mapping_justification +NANDO:1100001 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:MappingCuration +NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0004955 obsolete metabolic syndrome semapv:MappingCuration +NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0005066 metabolic disease semapv:MappingCuration +NANDO:1100004 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:MappingCuration +NANDO:1100005 Cardiovascular disease skos:exactMatch MONDO:0004995 cardiovascular disorder semapv:MappingCuration +NANDO:1100006 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:MappingCuration +NANDO:1100009 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:MappingCuration +NANDO:1100010 Respiratory disease skos:exactMatch MONDO:0005087 respiratory system disorder semapv:MappingCuration +NANDO:1100013 Gastrointestinal disease skos:exactMatch MONDO:0004335 digestive system disorder semapv:MappingCuration +NANDO:1100014 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:MappingCuration +NANDO:1100015 Otorhinolaryngological disease skos:exactMatch MONDO:0024623 otorhinolaryngologic disease semapv:MappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0010735 Kennedy disease semapv:MappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0016113 bulbospinal muscular atrophy semapv:MappingCuration +NANDO:1200002 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:MappingCuration +NANDO:1200003 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:MappingCuration +NANDO:1200004 Spinal muscular atrophy type I skos:exactMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:MappingCuration +NANDO:1200005 Spinal muscular atrophy type II skos:exactMatch MONDO:0009673 spinal muscular atrophy, type II semapv:MappingCuration +NANDO:1200006 Spinal muscular atrophy type III skos:exactMatch MONDO:0009672 spinal muscular atrophy, type III semapv:MappingCuration +NANDO:1200007 Spinal muscular atrophy type IV skos:exactMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:MappingCuration +NANDO:1200008 Primary lateral sclerosis skos:exactMatch MONDO:0018155 lateral sclerosis semapv:MappingCuration +NANDO:1200009 Progressive supranuclear palsy skos:exactMatch MONDO:0019037 progressive supranuclear palsy semapv:MappingCuration +NANDO:1200010 Parkinson's disease skos:exactMatch MONDO:0005180 Parkinson disease semapv:MappingCuration +NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022308 corticobasal degeneration disorder semapv:MappingCuration +NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022880 obsolete corticobasal degeneration semapv:MappingCuration +NANDO:1200012 Huntington's disease skos:exactMatch MONDO:0007739 Huntington disease semapv:MappingCuration +NANDO:1200013 Neuroacanthocytosis skos:exactMatch MONDO:0016987 neuroacanthocytosis semapv:MappingCuration +NANDO:1200014 Chorea-acanthocytosis skos:exactMatch MONDO:0008695 chorea-acanthocytosis semapv:MappingCuration +NANDO:1200015 McLeod syndrome skos:exactMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:MappingCuration +NANDO:1200016 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:MappingCuration +NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:exactMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:MappingCuration +NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:exactMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:MappingCuration +NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:exactMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:MappingCuration +NANDO:1200020 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:MappingCuration +NANDO:1200021 Congenital myasthenic syndrome skos:exactMatch MONDO:0018940 congenital myasthenic syndrome semapv:MappingCuration +NANDO:1200023 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:MappingCuration +NANDO:1200024 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:MappingCuration +NANDO:1200025 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:MappingCuration +NANDO:1200026 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:MappingCuration +NANDO:1200027 Neuromyelitis optica spectrum disorders skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:MappingCuration +NANDO:1200028 Baló concentric sclerosis skos:exactMatch MONDO:0016430 Balo concentric sclerosis semapv:MappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:MappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:MappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:MappingCuration +NANDO:1200031 Multifocal motor neuropathy skos:exactMatch MONDO:0018979 multifocal motor neuropathy semapv:MappingCuration +NANDO:1200032 Sporadic inclusion body myositis skos:exactMatch MONDO:0007827 inclusion body myositis semapv:MappingCuration +NANDO:1200033 Crow-Fukase syndrome skos:exactMatch MONDO:0017364 POEMS syndrome semapv:MappingCuration +NANDO:1200034 Multiple system atrophy skos:exactMatch MONDO:0007803 multiple system atrophy semapv:MappingCuration +NANDO:1200035 Multiple system atrophy, cerebellar type skos:exactMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:MappingCuration +NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:exactMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:MappingCuration +NANDO:1200037 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:MappingCuration +NANDO:1200041 Spinocerebellar ataxia type 3 skos:exactMatch MONDO:0007182 Machado-Joseph disease semapv:MappingCuration +NANDO:1200042 Spinocerebellar ataxia type 6 skos:exactMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:MappingCuration +NANDO:1200043 Dentatorubropallidoluysian atrophy skos:exactMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:MappingCuration +NANDO:1200044 Spinocerebellar ataxia type 31 skos:exactMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:MappingCuration +NANDO:1200045 Spinocerebellar ataxia type 1 skos:exactMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:MappingCuration +NANDO:1200046 Spinocerebellar ataxia type 2 skos:exactMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:MappingCuration +NANDO:1200047 Spinocerebellar ataxia type 7 skos:exactMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:MappingCuration +NANDO:1200048 Spinocerebellar ataxia type 36 skos:exactMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:MappingCuration +NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:exactMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:MappingCuration +NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:exactMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:MappingCuration +NANDO:1200052 Hereditary spastic paraplegia skos:exactMatch MONDO:0019064 hereditary spastic paraplegia semapv:MappingCuration +NANDO:1200053 Pure hereditary spastic paraplegia skos:exactMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:MappingCuration +NANDO:1200054 Complex hereditary spastic paraplegia skos:exactMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:MappingCuration +NANDO:1200055 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:MappingCuration +NANDO:1200056 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:MappingCuration +NANDO:1200057 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:MappingCuration +NANDO:1200058 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:MappingCuration +NANDO:1200059 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:MappingCuration +NANDO:1200061 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:MappingCuration +NANDO:1200062 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:MappingCuration +NANDO:1200063 Niemann-Pick disease type C skos:exactMatch MONDO:0018982 Niemann-Pick disease type C semapv:MappingCuration +NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:MappingCuration +NANDO:1200066 GM1 gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:MappingCuration +NANDO:1200067 Infantile GM1 gangliosidosis skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:MappingCuration +NANDO:1200068 Juvenile GM1 gangliosidosis skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:MappingCuration +NANDO:1200069 Adult GM1 gangliosidosis skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:MappingCuration +NANDO:1200070 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:MappingCuration +NANDO:1200071 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:MappingCuration +NANDO:1200072 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:MappingCuration +NANDO:1200073 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:MappingCuration +NANDO:1200074 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:MappingCuration +NANDO:1200075 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:MappingCuration +NANDO:1200077 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:MappingCuration +NANDO:1200078 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:MappingCuration +NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:MappingCuration +NANDO:1200082 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:MappingCuration +NANDO:1200083 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:MappingCuration +NANDO:1200086 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:MappingCuration +NANDO:1200094 Hurler syndrome skos:exactMatch MONDO:0011758 Hurler syndrome semapv:MappingCuration +NANDO:1200095 Scheie syndrome skos:exactMatch MONDO:0011760 Scheie syndrome semapv:MappingCuration +NANDO:1200096 Hurler-Scheie syndrome skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:MappingCuration +NANDO:1200097 Hunter syndrome skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:MappingCuration +NANDO:1200098 Hunter syndrome type A skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:MappingCuration +NANDO:1200099 Hunter syndrome type B skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:MappingCuration +NANDO:1200100 Sanfilippo disease skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:MappingCuration +NANDO:1200101 Sanfilippo disease type A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:MappingCuration +NANDO:1200102 Sanfilippo disease type B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:MappingCuration +NANDO:1200103 Sanfilippo disease type C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:MappingCuration +NANDO:1200104 Sanfilippo disease type D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:MappingCuration +NANDO:1200105 Morquio syndrome skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:MappingCuration +NANDO:1200106 Morquio syndrome type A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:MappingCuration +NANDO:1200107 Morquio syndrome type B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:MappingCuration +NANDO:1200108 Maroteaux-Lamy syndrome skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:MappingCuration +NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:MappingCuration +NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:MappingCuration +NANDO:1200111 Sly syndrome skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:MappingCuration +NANDO:1200115 Hyaluronidase deficiency skos:exactMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:MappingCuration +NANDO:1200116 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:MappingCuration +NANDO:1200117 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:MappingCuration +NANDO:1200118 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:MappingCuration +NANDO:1200119 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:MappingCuration +NANDO:1200120 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:MappingCuration +NANDO:1200124 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:MappingCuration +NANDO:1200125 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:MappingCuration +NANDO:1200126 Alpha-mannosidosis skos:exactMatch MONDO:0009561 alpha-mannosidosis semapv:MappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:MappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:MappingCuration +NANDO:1200128 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:MappingCuration +NANDO:1200129 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:MappingCuration +NANDO:1200130 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:MappingCuration +NANDO:1200133 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:MappingCuration +NANDO:1200134 Schindler disease skos:exactMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:MappingCuration +NANDO:1200135 Schindler disease type I skos:exactMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:MappingCuration +NANDO:1200136 Schindler disease type 2 skos:exactMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:MappingCuration +NANDO:1200137 Schindler disease type 3 skos:exactMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:MappingCuration +NANDO:1200138 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:MappingCuration +NANDO:1200139 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:MappingCuration +NANDO:1200142 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:MappingCuration +NANDO:1200143 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:MappingCuration +NANDO:1200144 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:MappingCuration +NANDO:1200145 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:MappingCuration +NANDO:1200146 Free sialic acid storage disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:MappingCuration +NANDO:1200147 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:MappingCuration +NANDO:1200148 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:MappingCuration +NANDO:1200149 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:MappingCuration +NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:MappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:MappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:1200157 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:MappingCuration +NANDO:1200161 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:MappingCuration +NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:MappingCuration +NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:MappingCuration +NANDO:1200163 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:MappingCuration +NANDO:1200164 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:MappingCuration +NANDO:1200165 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:MappingCuration +NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:MappingCuration +NANDO:1200168 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:MappingCuration +NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:MappingCuration +NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:MappingCuration +NANDO:1200175 Leigh's encephalomyelopathy skos:exactMatch MONDO:0009723 Leigh syndrome semapv:MappingCuration +NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:exactMatch MONDO:0010789 MELAS syndrome semapv:MappingCuration +NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:MappingCuration +NANDO:1200178 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:MappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100133 mitochondrial complex I deficiency semapv:MappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:MappingCuration +NANDO:1200181 Mitochondrial complex II deficiency skos:exactMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:MappingCuration +NANDO:1200183 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:MappingCuration +NANDO:1200186 Prion disease skos:exactMatch MONDO:0005429 prion disease semapv:MappingCuration +NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:MappingCuration +NANDO:1200188 Genetic prion diseases skos:exactMatch MONDO:0017234 inherited prion disease semapv:MappingCuration +NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:MappingCuration +NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:MappingCuration +NANDO:1200191 Fatal familial insomnia skos:exactMatch MONDO:0010808 fatal familial insomnia semapv:MappingCuration +NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:exactMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:MappingCuration +NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:MappingCuration +NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:MappingCuration +NANDO:1200195 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration +NANDO:1200196 Typical subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration +NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration +NANDO:1200205 Progressive multifocal leukoencephalopathy skos:exactMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:MappingCuration +NANDO:1200206 HTLV-1-associated myelopathy skos:exactMatch MONDO:0008039 tropical spastic paraparesis semapv:MappingCuration +NANDO:1200207 Idiopathic basal ganglia calcification skos:exactMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:MappingCuration +NANDO:1200208 Familial idiopathic basal ganglia calcification skos:exactMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:MappingCuration +NANDO:1200209 Systemic amyloidosis skos:exactMatch MONDO:0017816 primary systemic amyloidosis semapv:MappingCuration +NANDO:1200211 Amyloid light-chain amyloidosis skos:exactMatch MONDO:0019438 AL amyloidosis semapv:MappingCuration +NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:exactMatch MONDO:0018018 wild type ATTR amyloidosis semapv:MappingCuration +NANDO:1200214 Familial amyloid polyneuropathy skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:MappingCuration +NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:MappingCuration +NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:MappingCuration +NANDO:1200216 Distal myopathy skos:exactMatch MONDO:0018949 distal myopathy semapv:MappingCuration +NANDO:1200217 Miyoshi myopathy skos:exactMatch MONDO:0009685 Miyoshi myopathy semapv:MappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0007827 inclusion body myositis semapv:MappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0011603 GNE myopathy semapv:MappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:MappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:MappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 oculopharyngodistal myopathy semapv:MappingCuration +NANDO:1200220 Bethlem Myopathy skos:exactMatch MONDO:0008029 Bethlem myopathy semapv:MappingCuration +NANDO:1200222 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:MappingCuration +NANDO:1200223 X-linked Myopathy with excessive autophagy skos:exactMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:MappingCuration +NANDO:1200224 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:MappingCuration +NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:MappingCuration +NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0021061 neurofibromatosis semapv:MappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:MappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:MappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0007039 neurofibromatosis type 2 semapv:MappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:MappingCuration +NANDO:1200228 Pemphigus skos:exactMatch MONDO:0006594 pemphigus semapv:MappingCuration +NANDO:1200229 Pemphigus vulgaris skos:exactMatch MONDO:0008219 pemphigus vulgaris semapv:MappingCuration +NANDO:1200230 Pemphigus foliaceus skos:exactMatch MONDO:0019324 pemphigus foliaceus semapv:MappingCuration +NANDO:1200231 Paraneoplastic pemphigus skos:exactMatch MONDO:0018974 paraneoplastic pemphigus semapv:MappingCuration +NANDO:1200232 Pemphigus vegetans skos:exactMatch MONDO:0019322 pemphigus vegetans semapv:MappingCuration +NANDO:1200233 Pemphigus erythematosus skos:exactMatch MONDO:0019323 pemphigus erythematosus semapv:MappingCuration +NANDO:1200234 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:MappingCuration +NANDO:1200235 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:MappingCuration +NANDO:1200236 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:MappingCuration +NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:MappingCuration +NANDO:1200239 Kindler syndrome skos:exactMatch MONDO:0008260 Kindler syndrome semapv:MappingCuration +NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:MappingCuration +NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:MappingCuration +NANDO:1200243 Impetigo herpetiformis skos:exactMatch MONDO:0004591 impetigo herpetiformis semapv:MappingCuration +NANDO:1200244 Acrodermatitis continua of Hallopeau skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:MappingCuration +NANDO:1200245 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:MappingCuration +NANDO:1200246 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:MappingCuration +NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:MappingCuration +NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:MappingCuration +NANDO:1200258 Giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:MappingCuration +NANDO:1200259 Cranial giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:MappingCuration +NANDO:1200260 Large-vessel giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:MappingCuration +NANDO:1200261 Polyarteritis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:MappingCuration +NANDO:1200262 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:MappingCuration +NANDO:1200263 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:MappingCuration +NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:MappingCuration +NANDO:1200265 Rheumatoid vasculitis skos:exactMatch MONDO:0043267 rheumatoid vasculitis semapv:MappingCuration +NANDO:1200266 Buerger's disease skos:exactMatch MONDO:0008889 thromboangiitis obliterans semapv:MappingCuration +NANDO:1200267 Primary antiphospholipid antibody syndrome skos:exactMatch MONDO:0005204 primary antiphospholipid syndrome semapv:MappingCuration +NANDO:1200270 Catastrophic antiphospholipid syndrome skos:exactMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:MappingCuration +NANDO:1200271 Antiphospholipid antibody-related disease skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:MappingCuration +NANDO:1200272 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:MappingCuration +NANDO:1200274 Dermatomyositis skos:exactMatch MONDO:0016367 dermatomyositis semapv:MappingCuration +NANDO:1200275 Amyopathic dermatomyositis skos:exactMatch MONDO:0043317 amyopathic dermatomyositis semapv:MappingCuration +NANDO:1200276 Polymyositis skos:exactMatch MONDO:0019127 polymyositis semapv:MappingCuration +NANDO:1200277 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:MappingCuration +NANDO:1200278 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:MappingCuration +NANDO:1200279 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:MappingCuration +NANDO:1200280 Primary Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:MappingCuration +NANDO:1200282 Adult Still's disease skos:exactMatch MONDO:0019355 adult-onset Still disease semapv:MappingCuration +NANDO:1200283 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:MappingCuration +NANDO:1200284 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:MappingCuration +NANDO:1200286 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration +NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration +NANDO:1200292 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:MappingCuration +NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:MappingCuration +NANDO:1200294 Secondary restrictive cardiomyopathy skos:exactMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:MappingCuration +NANDO:1200295 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:MappingCuration +NANDO:1200296 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:MappingCuration +NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:MappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0015909 aplastic anemia semapv:MappingCuration +NANDO:1200302 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:MappingCuration +NANDO:1200303 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:MappingCuration +NANDO:1200304 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:MappingCuration +NANDO:1200305 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:MappingCuration +NANDO:1200306 Warm antibody hemolytic anemia skos:exactMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:MappingCuration +NANDO:1200307 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:MappingCuration +NANDO:1200308 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:MappingCuration +NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:exactMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:MappingCuration +NANDO:1200310 Evans syndrome skos:exactMatch MONDO:0016030 Evans syndrome semapv:MappingCuration +NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:MappingCuration +NANDO:1200315 Idiopathic thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:MappingCuration +NANDO:1200316 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:MappingCuration +NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:MappingCuration +NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:MappingCuration +NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:MappingCuration +NANDO:1200320 Primary immunodeficiency syndrome skos:exactMatch MONDO:0003778 inborn error of immunity semapv:MappingCuration +NANDO:1200321 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:MappingCuration +NANDO:1200322 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:MappingCuration +NANDO:1200323 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:MappingCuration +NANDO:1200324 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:MappingCuration +NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:MappingCuration +NANDO:1200326 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:MappingCuration +NANDO:1200327 Zap-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:MappingCuration +NANDO:1200328 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:MappingCuration +NANDO:1200329 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:MappingCuration +NANDO:1200330 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:MappingCuration +NANDO:1200331 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:MappingCuration +NANDO:1200332 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:MappingCuration +NANDO:1200333 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:MappingCuration +NANDO:1200334 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:MappingCuration +NANDO:1200336 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:MappingCuration +NANDO:1200337 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:MappingCuration +NANDO:1200338 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:MappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:MappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:MappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:MappingCuration +NANDO:1200340 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:MappingCuration +NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:MappingCuration +NANDO:1200342 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:MappingCuration +NANDO:1200343 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:MappingCuration +NANDO:1200344 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:MappingCuration +NANDO:1200345 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:MappingCuration +NANDO:1200346 IgG subclass deficiency skos:exactMatch MONDO:0045045 selective IgG immunodeficiency semapv:MappingCuration +NANDO:1200347 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:MappingCuration +NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:MappingCuration +NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:MappingCuration +NANDO:1200350 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:MappingCuration +NANDO:1200351 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:MappingCuration +NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:MappingCuration +NANDO:1200353 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:MappingCuration +NANDO:1200354 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:MappingCuration +NANDO:1200355 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:MappingCuration +NANDO:1200356 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:MappingCuration +NANDO:1200357 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:MappingCuration +NANDO:1200358 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:MappingCuration +NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:MappingCuration +NANDO:1200361 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:MappingCuration +NANDO:1200362 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:MappingCuration +NANDO:1200363 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:MappingCuration +NANDO:1200364 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:MappingCuration +NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:MappingCuration +NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:MappingCuration +NANDO:1200366 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:MappingCuration +NANDO:1200367 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:MappingCuration +NANDO:1200368 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:MappingCuration +NANDO:1200369 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:MappingCuration +NANDO:1200371 Ossification of posterior longitudinal ligament skos:exactMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:MappingCuration +NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:exactMatch MONDO:0005965 spinal stenosis semapv:MappingCuration +NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:exactMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:MappingCuration +NANDO:1200375 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:MappingCuration +NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:MappingCuration +NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:exactMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:MappingCuration +NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:exactMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:MappingCuration +NANDO:1200379 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:MappingCuration +NANDO:1200381 Central precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:MappingCuration +NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:exactMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:MappingCuration +NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:exactMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:MappingCuration +NANDO:1200385 Growth hormone secreting pituitary adenoma skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:MappingCuration +NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:MappingCuration +NANDO:1200387 Hypopituitarism syndrome skos:exactMatch MONDO:0005152 hypopituitarism semapv:MappingCuration +NANDO:1200388 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:MappingCuration +NANDO:1200390 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:MappingCuration +NANDO:1200394 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:MappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:MappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:MappingCuration +NANDO:1200396 Congenital adrenal enzyme deficiency skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:MappingCuration +NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:MappingCuration +NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:MappingCuration +NANDO:1200399 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:MappingCuration +NANDO:1200400 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:MappingCuration +NANDO:1200401 17-α-Hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:MappingCuration +NANDO:1200402 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:MappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:MappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration +NANDO:1200404 DAX1 abnormality skos:exactMatch MONDO:0010226 46,XY sex reversal 2 semapv:MappingCuration +NANDO:1200405 SF-1 abnormality skos:exactMatch MONDO:0013066 46,XY sex reversal 3 semapv:MappingCuration +NANDO:1200406 IMAge syndrome skos:exactMatch MONDO:0013873 IMAGe syndrome semapv:MappingCuration +NANDO:1200408 MC2R deficiency skos:exactMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:MappingCuration +NANDO:1200409 MRAP deficiency skos:exactMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:MappingCuration +NANDO:1200410 Allgrove syndrome skos:exactMatch MONDO:0009279 triple-A syndrome semapv:MappingCuration +NANDO:1200411 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:MappingCuration +NANDO:1200411 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:MappingCuration +NANDO:1200412 Autoimmune Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:MappingCuration +NANDO:1200415 Sarcoidosis skos:exactMatch MONDO:0019338 sarcoidosis semapv:MappingCuration +NANDO:1200416 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:MappingCuration +NANDO:1200417 Idiopathic pulmonary fibrosis skos:exactMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:MappingCuration +NANDO:1200419 Non-specific interstitial pneumonia skos:exactMatch MONDO:0019622 non-specific interstitial pneumonia semapv:MappingCuration +NANDO:1200420 Acute interstitial pneumonia skos:exactMatch MONDO:0019203 acute interstitial pneumonia semapv:MappingCuration +NANDO:1200421 Cryptogenic organizing pneumonia skos:exactMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:MappingCuration +NANDO:1200422 Desquamative interstitial pneumonia skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:MappingCuration +NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:MappingCuration +NANDO:1200424 Lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:MappingCuration +NANDO:1200425 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:MappingCuration +NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:MappingCuration +NANDO:1200427 Pulmonary veno-occlusive disease skos:exactMatch MONDO:0009937 pulmonary venoocclusive disease semapv:MappingCuration +NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:exactMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:MappingCuration +NANDO:1200430 Lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 lymphangioleiomyomatosis semapv:MappingCuration +NANDO:1200431 Retinitis pigmentosa skos:exactMatch MONDO:0019200 retinitis pigmentosa semapv:MappingCuration +NANDO:1200437 Budd-Chiari syndrome skos:exactMatch MONDO:0010947 Budd-Chiari syndrome semapv:MappingCuration +NANDO:1200438 Idiopathic portal hypertension skos:exactMatch MONDO:0021969 Banti syndrome semapv:MappingCuration +NANDO:1200439 Primary biliary cholangitis skos:exactMatch MONDO:0005388 primary biliary cholangitis semapv:MappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:MappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:MappingCuration +NANDO:1200441 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:MappingCuration +NANDO:1200442 Typical autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:MappingCuration +NANDO:1200444 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:MappingCuration +NANDO:1200445 small bowel Crohn disease skos:exactMatch MONDO:0005539 small bowel Crohn disease semapv:MappingCuration +NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:MappingCuration +NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005532 Crohn's colitis semapv:MappingCuration +NANDO:1200447 Crohn ileocolitis skos:exactMatch MONDO:0005534 ileocolitis semapv:MappingCuration +NANDO:1200449 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:MappingCuration +NANDO:1200450 Pan-ulcerative colitis skos:exactMatch MONDO:0005536 pancolitis semapv:MappingCuration +NANDO:1200451 Left-sided colitis skos:exactMatch MONDO:0005533 distal colitis semapv:MappingCuration +NANDO:1200454 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:MappingCuration +NANDO:1200456 Eosinophilic esophagitis skos:exactMatch MONDO:0005361 eosinophilic esophagitis semapv:MappingCuration +NANDO:1200457 Eosinophilic gastroenteritis skos:exactMatch MONDO:0016129 eosinophilic gastroenteritis semapv:MappingCuration +NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:MappingCuration +NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingCuration +NANDO:1200460 Congenital isolated hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:MappingCuration +NANDO:1200461 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:MappingCuration +NANDO:1200462 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:MappingCuration +NANDO:1200463 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:MappingCuration +NANDO:1200464 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:MappingCuration +NANDO:1200465 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:MappingCuration +NANDO:1200466 Familial cold autoinflammatorysyndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:MappingCuration +NANDO:1200467 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:MappingCuration +NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:MappingCuration +NANDO:1200469 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:MappingCuration +NANDO:1200470 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:MappingCuration +NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:MappingCuration +NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:MappingCuration +NANDO:1200473 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:MappingCuration +NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:MappingCuration +NANDO:1200476 Blau syndrome skos:exactMatch MONDO:0008523 Blau syndrome semapv:MappingCuration +NANDO:1200477 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:MappingCuration +NANDO:1200478 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:MappingCuration +NANDO:1200479 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:MappingCuration +NANDO:1200481 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:MappingCuration +NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:MappingCuration +NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:MappingCuration +NANDO:1200483 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:MappingCuration +NANDO:1200485 Marinesco-Sjogren syndrome skos:exactMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:MappingCuration +NANDO:1200486 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:MappingCuration +NANDO:1200487 Dystrophinopathies skos:exactMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:MappingCuration +NANDO:1200488 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:MappingCuration +NANDO:1200489 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:MappingCuration +NANDO:1200490 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:MappingCuration +NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:MappingCuration +NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:MappingCuration +NANDO:1200493 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:MappingCuration +NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:MappingCuration +NANDO:1200495 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:MappingCuration +NANDO:1200496 Non-dystrophic myotonia skos:exactMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:MappingCuration +NANDO:1200497 Myotonia congenita skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:MappingCuration +NANDO:1200498 Thomsen disease skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:MappingCuration +NANDO:1200499 Becker disease skos:exactMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:MappingCuration +NANDO:1200500 Sodium channel myotonia skos:exactMatch MONDO:0018959 potassium-aggravated myotonia semapv:MappingCuration +NANDO:1200501 Paramyotonia congenita skos:exactMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:MappingCuration +NANDO:1200502 Hereditary periodic paralysis skos:exactMatch MONDO:0000995 familial periodic paralysis semapv:MappingCuration +NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:exactMatch MONDO:0008223 hypokalemic periodic paralysis semapv:MappingCuration +NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:exactMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:MappingCuration +NANDO:1200506 Syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:MappingCuration +NANDO:1200507 Symptomatic syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:MappingCuration +NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:MappingCuration +NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:MappingCuration +NANDO:1200510 Isaacs syndrome skos:exactMatch MONDO:0019399 Isaac syndrome semapv:MappingCuration +NANDO:1200511 Hereditary dystonia skos:exactMatch MONDO:0044807 inherited dystonia semapv:MappingCuration +NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:MappingCuration +NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0044808 obsolete early onset primary dystonia semapv:MappingCuration +NANDO:1200513 Dystonia 2 skos:exactMatch MONDO:0009141 torsion dystonia 2 semapv:MappingCuration +NANDO:1200514 Dystonia 3 skos:exactMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:MappingCuration +NANDO:1200515 Dystonia 4 skos:exactMatch MONDO:0007493 torsion dystonia 4 semapv:MappingCuration +NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0007495 dystonia 5 semapv:MappingCuration +NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:MappingCuration +NANDO:1200517 Dystonia 6 skos:exactMatch MONDO:0011264 torsion dystonia 6 semapv:MappingCuration +NANDO:1200518 Dystonia 7 skos:exactMatch MONDO:0011200 torsion dystonia 7 semapv:MappingCuration +NANDO:1200519 Dystonia 8 skos:exactMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:MappingCuration +NANDO:1200520 Dystonia 9 skos:exactMatch MONDO:0010983 dystonia 9 semapv:MappingCuration +NANDO:1200521 Dystonia 10 skos:exactMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:MappingCuration +NANDO:1200522 Dystonia 11 skos:exactMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:MappingCuration +NANDO:1200523 Dystonia 12 skos:exactMatch MONDO:0007496 dystonia 12 semapv:MappingCuration +NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:exactMatch MONDO:0007496 dystonia 12 semapv:MappingCuration +NANDO:1200525 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration +NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:exactMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:MappingCuration +NANDO:1200527 Dystonia 13 skos:exactMatch MONDO:0011886 torsion dystonia 13 semapv:MappingCuration +NANDO:1200528 Dystonia 15 skos:exactMatch MONDO:0011844 myoclonic dystonia 15 semapv:MappingCuration +NANDO:1200529 Dystonia 16 skos:exactMatch MONDO:0012789 dystonia 16 semapv:MappingCuration +NANDO:1200530 Dystonia 17 skos:exactMatch MONDO:0012895 torsion dystonia 17 semapv:MappingCuration +NANDO:1200531 Dystonia 18 skos:exactMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:MappingCuration +NANDO:1200532 Dystonia 19 skos:exactMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:MappingCuration +NANDO:1200533 Dystonia 20 skos:exactMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:MappingCuration +NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:MappingCuration +NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:MappingCuration +NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:MappingCuration +NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:exactMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:MappingCuration +NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:exactMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:MappingCuration +NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:MappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:MappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:MappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:MappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:MappingCuration +NANDO:1200542 Neuroferritinopathy skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:MappingCuration +NANDO:1200543 Superficial siderosis skos:exactMatch MONDO:0016594 superficial siderosis semapv:MappingCuration +NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0010829 CARASIL syndrome semapv:MappingCuration +NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:exactMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:MappingCuration +NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:exactMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:MappingCuration +NANDO:1200547 Perry syndrome skos:exactMatch MONDO:0008201 Perry syndrome semapv:MappingCuration +NANDO:1200548 Frontotemporal lobar degeneration skos:exactMatch MONDO:0017276 frontotemporal dementia semapv:MappingCuration +NANDO:1200549 Behavioral variant frontotemporal dementia skos:exactMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:MappingCuration +NANDO:1200550 Semantic dementia skos:exactMatch MONDO:0010857 semantic dementia semapv:MappingCuration +NANDO:1200551 Bickerstaff's brainstem encephalitis skos:exactMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:MappingCuration +NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingCuration +NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:MappingCuration +NANDO:1200554 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:MappingCuration +NANDO:1200555 Alexander disease type I skos:exactMatch MONDO:0018209 Alexander disease type I semapv:MappingCuration +NANDO:1200556 Alexander disease type II skos:exactMatch MONDO:0018210 Alexander disease type II semapv:MappingCuration +NANDO:1200558 Congenital suprabulbar paresis skos:exactMatch MONDO:0008503 Worster-Drought syndrome semapv:MappingCuration +NANDO:1200559 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:MappingCuration +NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:MappingCuration +NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:MappingCuration +NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:MappingCuration +NANDO:1200562 Aicardi syndrome skos:exactMatch MONDO:0010568 Aicardi syndrome semapv:MappingCuration +NANDO:1200563 Hemimegalencephaly skos:exactMatch MONDO:0020492 hemimegalencephaly semapv:MappingCuration +NANDO:1200564 Focal cortical dysplasia skos:exactMatch MONDO:0019009 isolated focal cortical dysplasia semapv:MappingCuration +NANDO:1200565 Focal cortical dysplasia type 1a skos:exactMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:MappingCuration +NANDO:1200566 Focal cortical dysplasia type 1b skos:exactMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:MappingCuration +NANDO:1200567 Focal cortical dysplasia type 1c skos:exactMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:MappingCuration +NANDO:1200574 Neuronal migration defects skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:MappingCuration +NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:MappingCuration +NANDO:1200576 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:MappingCuration +NANDO:1200577 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:MappingCuration +NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:MappingCuration +NANDO:1200579 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:MappingCuration +NANDO:1200580 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:MappingCuration +NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:MappingCuration +NANDO:1200582 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:MappingCuration +NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:MappingCuration +NANDO:1200584 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:MappingCuration +NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:MappingCuration +NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:MappingCuration +NANDO:1200587 Dravet syndrome skos:exactMatch MONDO:0100135 Dravet syndrome semapv:MappingCuration +NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:exactMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:MappingCuration +NANDO:1200589 Myoclonic absence epilepsy skos:exactMatch MONDO:0019487 epilepsy with myoclonic absences semapv:MappingCuration +NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:exactMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:MappingCuration +NANDO:1200591 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:MappingCuration +NANDO:1200592 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:MappingCuration +NANDO:1200593 Ohtahara syndrome skos:exactMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:MappingCuration +NANDO:1200594 Early myoclonic encephalopathy skos:exactMatch MONDO:0016022 early myoclonic encephalopathy semapv:MappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:MappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:MappingCuration +NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:exactMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:MappingCuration +NANDO:1200597 Ring chromosome 20 syndrome skos:exactMatch MONDO:0015436 ring chromosome 20 semapv:MappingCuration +NANDO:1200598 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:MappingCuration +NANDO:1200599 PCDH19-related syndrome skos:exactMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:MappingCuration +NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:MappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0019123 continuous spikes and waves during sleep semapv:MappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:MappingCuration +NANDO:1200602 Landau-Kleffner syndrome skos:exactMatch MONDO:0009509 Landau-Kleffner syndrome semapv:MappingCuration +NANDO:1200603 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:MappingCuration +NANDO:1200604 Typical Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:MappingCuration +NANDO:1200605 Atypical Rett syndrome skos:exactMatch MONDO:0017746 atypical Rett syndrome semapv:MappingCuration +NANDO:1200606 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:MappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:MappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:MappingCuration +NANDO:1200608 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:MappingCuration +NANDO:1200609 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:MappingCuration +NANDO:1200610 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:MappingCuration +NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:MappingCuration +NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:MappingCuration +NANDO:1200613 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:MappingCuration +NANDO:1200614 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:MappingCuration +NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:MappingCuration +NANDO:1200616 Congenital ichthyosiform erythroderma skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:MappingCuration +NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0017778 lamellar ichthyosis semapv:MappingCuration +NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:MappingCuration +NANDO:1200618 Ichthyosis syndrome skos:exactMatch MONDO:0019269 ichthyosis semapv:MappingCuration +NANDO:1200619 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:MappingCuration +NANDO:1200620 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:MappingCuration +NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:MappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:MappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:MappingCuration +NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:MappingCuration +NANDO:1200624 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:MappingCuration +NANDO:1200625 Recessive X-linked ichtyosis skos:exactMatch MONDO:0010622 recessive X-linked ichthyosis semapv:MappingCuration +NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:exactMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:MappingCuration +NANDO:1200627 Trichothiodystrophy skos:exactMatch MONDO:0018053 trichothiodystrophy semapv:MappingCuration +NANDO:1200628 Ichthyosis follicularis skos:exactMatch MONDO:0043094 ichthyosis, follicular semapv:MappingCuration +NANDO:1200629 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:MappingCuration +NANDO:1200630 Conradi Hünermann Happle syndrome skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:MappingCuration +NANDO:1200631 Benign familial pemphigus skos:exactMatch MONDO:0008218 Hailey-Hailey disease semapv:MappingCuration +NANDO:1200633 Bullous pemphigoid skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:MappingCuration +NANDO:1200634 Mucous membrane pemphigoid skos:exactMatch MONDO:0018746 mucous membrane pemphigoid semapv:MappingCuration +NANDO:1200635 Epidermolysis bullosa acquisita skos:exactMatch MONDO:0018747 acquired epidermolysis bullosa semapv:MappingCuration +NANDO:1200637 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:MappingCuration +NANDO:1200638 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:MappingCuration +NANDO:1200639 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:MappingCuration +NANDO:1200640 Griscelli syndrome skos:exactMatch MONDO:0018306 Griscelli syndrome semapv:MappingCuration +NANDO:1200641 Non-syndromic oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:MappingCuration +NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:MappingCuration +NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:MappingCuration +NANDO:1200643 Pseudoxanthoma elasticum skos:exactMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:MappingCuration +NANDO:1200644 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:MappingCuration +NANDO:1200645 Ehlers-Danlos Syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:MappingCuration +NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:MappingCuration +NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:MappingCuration +NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:MappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:MappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:MappingCuration +NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingCuration +NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingCuration +NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:MappingCuration +NANDO:1200653 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:MappingCuration +NANDO:1200654 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:MappingCuration +NANDO:1200655 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:MappingCuration +NANDO:1200656 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:MappingCuration +NANDO:1200657 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:MappingCuration +NANDO:1200658 Nasu-Hakola disease skos:exactMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:MappingCuration +NANDO:1200659 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:MappingCuration +NANDO:1200660 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:MappingCuration +NANDO:1200661 Joubert syndrome and related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:MappingCuration +NANDO:1200662 Arima syndrome skos:exactMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:MappingCuration +NANDO:1200663 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:MappingCuration +NANDO:1200664 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:MappingCuration +NANDO:1200665 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:MappingCuration +NANDO:1200666 Crouzon's syndrome skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:MappingCuration +NANDO:1200667 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:MappingCuration +NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:MappingCuration +NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:MappingCuration +NANDO:1200669 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:MappingCuration +NANDO:1200670 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:MappingCuration +NANDO:1200671 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:MappingCuration +NANDO:1200672 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:MappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0007029 branchio-oto-renal syndrome semapv:MappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0018878 branchiootic syndrome semapv:MappingCuration +NANDO:1200676 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:MappingCuration +NANDO:1200677 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:MappingCuration +NANDO:1200678 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:MappingCuration +NANDO:1200679 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:MappingCuration +NANDO:1200680 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:MappingCuration +NANDO:1200681 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:MappingCuration +NANDO:1200682 1p36 deletion syndrome skos:exactMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:MappingCuration +NANDO:1200683 4p deletion syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:MappingCuration +NANDO:1200684 5p deletion syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:MappingCuration +NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:exactMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:MappingCuration +NANDO:1200686 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:MappingCuration +NANDO:1200687 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:MappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:MappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:MappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:MappingCuration +NANDO:1200689 Emanuel syndrome skos:exactMatch MONDO:0012176 Emanuel syndrome semapv:MappingCuration +NANDO:1200690 Fragile X syndrome related diseases skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:MappingCuration +NANDO:1200691 Fragile X tremor/ataxia syndrome skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:MappingCuration +NANDO:1200692 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:MappingCuration +NANDO:1200698 Corrected transposition of great arteries skos:exactMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:MappingCuration +NANDO:1200699 Complete transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration +NANDO:1200704 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:MappingCuration +NANDO:1200705 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:MappingCuration +NANDO:1200706 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:MappingCuration +NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:MappingCuration +NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:MappingCuration +NANDO:1200709 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:MappingCuration +NANDO:1200710 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:MappingCuration +NANDO:1200711 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:MappingCuration +NANDO:1200712 Alport's syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:MappingCuration +NANDO:1200713 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:MappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:MappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:MappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:MappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:MappingCuration +NANDO:1200718 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:MappingCuration +NANDO:1200719 Primary nephrotic syndrome skos:exactMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:MappingCuration +NANDO:1200720 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:MappingCuration +NANDO:1200721 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:MappingCuration +NANDO:1200722 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:MappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:MappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:MappingCuration +NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:MappingCuration +NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:MappingCuration +NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:MappingCuration +NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:exactMatch MONDO:0019736 dense deposit disease semapv:MappingCuration +NANDO:1200741 Henoch-Schonlein purpura nephritis skos:exactMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:MappingCuration +NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:MappingCuration +NANDO:1200743 Interstitial cystitis (Hunner type) skos:exactMatch MONDO:0018301 interstitial cystitis semapv:MappingCuration +NANDO:1200744 Osler disease skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:MappingCuration +NANDO:1200745 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:MappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:MappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:MappingCuration +NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:MappingCuration +NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:MappingCuration +NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:exactMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:MappingCuration +NANDO:1200750 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:MappingCuration +NANDO:1200752 Obesity hypoventilation syndrome skos:exactMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:MappingCuration +NANDO:1200753 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:MappingCuration +NANDO:1200755 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:MappingCuration +NANDO:1200756 Carney complex skos:exactMatch MONDO:0015285 Carney complex semapv:MappingCuration +NANDO:1200757 Wolfram syndrome skos:exactMatch MONDO:0018105 Wolfram syndrome semapv:MappingCuration +NANDO:1200758 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:MappingCuration +NANDO:1200759 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:MappingCuration +NANDO:1200760 Zellweger syndrome skos:exactMatch MONDO:0019609 Zellweger spectrum disorders semapv:MappingCuration +NANDO:1200761 Neonatal adrenoleukodystrophy skos:exactMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:MappingCuration +NANDO:1200762 Infantile Refsum disease skos:exactMatch MONDO:0019174 obsolete infantile Refsum disease semapv:MappingCuration +NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:MappingCuration +NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:exactMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:MappingCuration +NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:MappingCuration +NANDO:1200766 D-bifunctional protein deficiency skos:exactMatch MONDO:0009855 d-bifunctional protein deficiency semapv:MappingCuration +NANDO:1200767 Sterol carrier protein 2 deficiency skos:exactMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:MappingCuration +NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:exactMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:MappingCuration +NANDO:1200769 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:MappingCuration +NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:exactMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:MappingCuration +NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:MappingCuration +NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:MappingCuration +NANDO:1200773 Primary hyperoxaluria type 1 skos:exactMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:MappingCuration +NANDO:1200774 Acatalasemia skos:exactMatch MONDO:0013571 acatalasia semapv:MappingCuration +NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:MappingCuration +NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:MappingCuration +NANDO:1200776 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:MappingCuration +NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:MappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:MappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:MappingCuration +NANDO:1200780 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:MappingCuration +NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:MappingCuration +NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:exactMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:MappingCuration +NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:exactMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:MappingCuration +NANDO:1200784 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:MappingCuration +NANDO:1200785 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:MappingCuration +NANDO:1200786 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:MappingCuration +NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:MappingCuration +NANDO:1200788 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:MappingCuration +NANDO:1200789 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:MappingCuration +NANDO:1200790 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:MappingCuration +NANDO:1200791 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:MappingCuration +NANDO:1200792 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:MappingCuration +NANDO:1200793 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:MappingCuration +NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:exactMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:MappingCuration +NANDO:1200795 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:MappingCuration +NANDO:1200796 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:MappingCuration +NANDO:1200797 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:MappingCuration +NANDO:1200798 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:MappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:MappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:MappingCuration +NANDO:1200800 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:MappingCuration +NANDO:1200801 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:MappingCuration +NANDO:1200802 Urea cycle disorder skos:exactMatch MONDO:0004739 urea cycle disorder semapv:MappingCuration +NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:MappingCuration +NANDO:1200804 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:MappingCuration +NANDO:1200805 Classic citrullinemia skos:exactMatch MONDO:0008988 citrullinemia type I semapv:MappingCuration +NANDO:1200806 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:MappingCuration +NANDO:1200807 Argininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:MappingCuration +NANDO:1200808 NAGS deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:MappingCuration +NANDO:1200809 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:MappingCuration +NANDO:1200810 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:MappingCuration +NANDO:1200811 Porphyria skos:exactMatch MONDO:0037939 porphyria semapv:MappingCuration +NANDO:1200812 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:MappingCuration +NANDO:1200813 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:MappingCuration +NANDO:1200814 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:MappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:MappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:MappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:MappingCuration +NANDO:1200816 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:MappingCuration +NANDO:1200818 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:MappingCuration +NANDO:1200819 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:MappingCuration +NANDO:1200820 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:MappingCuration +NANDO:1200821 Holocarboxylase synthetase deficiency skos:exactMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:MappingCuration +NANDO:1200822 Biotinidase deficiency skos:exactMatch MONDO:0009665 biotinidase deficiency semapv:MappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:MappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0016118 obsolete muscular glycogenosis semapv:MappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:MappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:MappingCuration +NANDO:1200825 Glycogen storage diseases type II skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:MappingCuration +NANDO:1200826 Glycogen storage diseases type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:MappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0008222 Andersen-Tawil syndrome semapv:MappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:MappingCuration +NANDO:1200828 Glycogen storage diseases type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:MappingCuration +NANDO:1200829 Glycogen storage diseases type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:MappingCuration +NANDO:1200830 Glycogen storage diseases type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:MappingCuration +NANDO:1200832 Glycogen storage diseases type X skos:exactMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:MappingCuration +NANDO:1200833 Glycogen storage diseases type XI skos:exactMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:MappingCuration +NANDO:1200834 Glycogen storage diseases type XII skos:exactMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:MappingCuration +NANDO:1200835 Glycogen storage diseases type XIII skos:exactMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:MappingCuration +NANDO:1200836 Glycogen storage diseases type XIV skos:exactMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:MappingCuration +NANDO:1200837 Glycogen storage diseases type XV skos:exactMatch MONDO:0013291 glycogen storage disease XV semapv:MappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0002412 disorder of glycogen metabolism semapv:MappingCuration +NANDO:1200840 Hepatic glycogen storage disease type Ia skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:MappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:MappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:MappingCuration +NANDO:1200844 Hepatic GSD type IIIc skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:MappingCuration +NANDO:1200846 Hepatic glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:MappingCuration +NANDO:1200847 Hepatic glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:MappingCuration +NANDO:1200848 Hepatic glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:MappingCuration +NANDO:1200849 Hepatic glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:MappingCuration +NANDO:1200850 Hepatic glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:MappingCuration +NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:MappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0009515 Norum disease semapv:MappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0018999 LCAT deficiency semapv:MappingCuration +NANDO:1200853 Sitosterolemia skos:exactMatch MONDO:0008863 sitosterolemia semapv:MappingCuration +NANDO:1200854 Tangier disease skos:exactMatch MONDO:0008783 Tangier disease semapv:MappingCuration +NANDO:1200856 Cerebrotendinous xanthomatosis skos:exactMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:MappingCuration +NANDO:1200857 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:MappingCuration +NANDO:1200858 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:MappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0006536 congenital generalized lipodystrophy semapv:MappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:MappingCuration +NANDO:1200860 Acquired generalized lipodystrophy skos:exactMatch MONDO:0019193 acquired generalized lipodystrophy semapv:MappingCuration +NANDO:1200861 Familial partial lipodystrophy skos:exactMatch MONDO:0020088 familial partial lipodystrophy semapv:MappingCuration +NANDO:1200862 Acquired partial lipodystrophy skos:exactMatch MONDO:0012104 acquired partial lipodystrophy semapv:MappingCuration +NANDO:1200863 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:MappingCuration +NANDO:1200864 Typical familial Mediterranean fever skos:exactMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:MappingCuration +NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:MappingCuration +NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0012481 mevalonic aciduria semapv:MappingCuration +NANDO:1200867 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:MappingCuration +NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:MappingCuration +NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:MappingCuration +NANDO:1200870 Ankylosing spondylitis skos:exactMatch MONDO:0005306 ankylosing spondylitis semapv:MappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:MappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:MappingCuration +NANDO:1200873 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:MappingCuration +NANDO:1200874 Thanatophoric dysplasia skos:exactMatch MONDO:0017042 thanatophoric dysplasia semapv:MappingCuration +NANDO:1200875 Thanatophoric dysplasia type 1 skos:exactMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:MappingCuration +NANDO:1200876 Thanatophoric dysplasia type 2 skos:exactMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:MappingCuration +NANDO:1200877 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:MappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:MappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:MappingCuration +NANDO:1200879 obsolete Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:MappingCuration +NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:MappingCuration +NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:MappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:MappingCuration +NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:MappingCuration +NANDO:1200885 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:MappingCuration +NANDO:1200886 Congenital dyserythropoietic anemia type I skos:exactMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:MappingCuration +NANDO:1200887 Congenital dyserythropoietic anemia type II skos:exactMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:MappingCuration +NANDO:1200888 Congenital dyserythropoietic anemia type III skos:exactMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:MappingCuration +NANDO:1200890 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:MappingCuration +NANDO:1200891 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:MappingCuration +NANDO:1200893 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:MappingCuration +NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:exactMatch MONDO:0020599 acquired coagulation factor deficiency semapv:MappingCuration +NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:exactMatch MONDO:0021133 acquired factor XIII deficiency semapv:MappingCuration +NANDO:1200898 Acquired hemophilia A skos:exactMatch MONDO:0019139 acquired hemophilia semapv:MappingCuration +NANDO:1200899 Acquired von Willebrand disease skos:exactMatch MONDO:0020460 acquired von willebrand syndrome semapv:MappingCuration +NANDO:1200901 Cronkhite-Canada syndrome skos:exactMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:MappingCuration +NANDO:1200903 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:MappingCuration +NANDO:1200909 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:MappingCuration +NANDO:1200910 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:MappingCuration +NANDO:1200911 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:MappingCuration +NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:MappingCuration +NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:MappingCuration +NANDO:1200918 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:MappingCuration +NANDO:1200919 Typical Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:MappingCuration +NANDO:1200921 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:MappingCuration +NANDO:1200922 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:MappingCuration +NANDO:1200923 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:MappingCuration +NANDO:1200924 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:MappingCuration +NANDO:1200925 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:MappingCuration +NANDO:1200928 IgG4-related sclerosing cholangitis skos:exactMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:MappingCuration +NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:MappingCuration +NANDO:1200930 IgG4-related kidney disease skos:exactMatch MONDO:0018671 IgG4-related kidney disease semapv:MappingCuration +NANDO:1200931 Macular dystrophy skos:exactMatch MONDO:0020242 hereditary macular dystrophy semapv:MappingCuration +NANDO:1200932 Vitelliform macular dystrophy skos:exactMatch MONDO:0000390 vitelliform macular dystrophy semapv:MappingCuration +NANDO:1200933 Stargardt disease skos:exactMatch MONDO:0019353 Stargardt disease semapv:MappingCuration +NANDO:1200934 Occult macular dystrophy skos:exactMatch MONDO:0013316 occult macular dystrophy semapv:MappingCuration +NANDO:1200936 Cone dystrophy skos:exactMatch MONDO:0000455 cone dystrophy semapv:MappingCuration +NANDO:1200937 Cone-rod dystrophy skos:exactMatch MONDO:0015993 cone-rod dystrophy semapv:MappingCuration +NANDO:1200938 X-linked juvenile retinoschisis skos:exactMatch MONDO:0010725 X-linked retinoschisis semapv:MappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0004890 partial central choroid dystrophy semapv:MappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0008982 central areolar choroidal dystrophy semapv:MappingCuration +NANDO:1200940 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:MappingCuration +NANDO:1200941 Usher syndrome skos:exactMatch MONDO:0019501 Usher syndrome semapv:MappingCuration +NANDO:1200942 Usher syndrome type I skos:exactMatch MONDO:0010168 Usher syndrome type 1 semapv:MappingCuration +NANDO:1200943 Usher syndrome Type II skos:exactMatch MONDO:0016484 Usher syndrome type 2 semapv:MappingCuration +NANDO:1200944 Usher syndrome Type III skos:exactMatch MONDO:0016485 Usher syndrome type 3 semapv:MappingCuration +NANDO:1200948 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:MappingCuration +NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:MappingCuration +NANDO:1200951 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:MappingCuration +NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:MappingCuration +NANDO:1200953 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:MappingCuration +NANDO:1200954 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:MappingCuration +NANDO:1200955 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:MappingCuration +NANDO:1200956 Benign adult familial myoclonus epilepsy skos:exactMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:MappingCuration +NANDO:1200957 Congenital anomalies syndrome skos:exactMatch MONDO:0000839 obsolete congenital abnormality semapv:MappingCuration +NANDO:1200958 Partial trisomy 1q skos:exactMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:MappingCuration +NANDO:1200959 9q34 deletion syndrome skos:exactMatch MONDO:0012455 Kleefstra syndrome semapv:MappingCuration +NANDO:1200960 Cornelia de lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:MappingCuration +NANDO:1200961 Smith-lemli-opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:MappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0011514 tricuspid atresia semapv:MappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0019813 congenital tricuspid stenosis semapv:MappingCuration +NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:MappingCuration +NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0020398 congenital mitral stenosis semapv:MappingCuration +NANDO:1200964 Congenital pulmonary vein stenosis skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:MappingCuration +NANDO:1200967 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:MappingCuration +NANDO:1200969 Carnitine cycle disorders skos:exactMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:MappingCuration +NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:MappingCuration +NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:MappingCuration +NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:MappingCuration +NANDO:1200973 Systemic primary carnitine deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:MappingCuration +NANDO:1200974 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:MappingCuration +NANDO:1200978 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:MappingCuration +NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:exactMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:MappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:MappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0016603 citrullinemia type II semapv:MappingCuration +NANDO:1200982 Sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:MappingCuration +NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:exactMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:MappingCuration +NANDO:1200984 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:MappingCuration +NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:exactMatch MONDO:0017353 neonatal glycine encephalopathy semapv:MappingCuration +NANDO:1200986 Infantile nonketotic hyperglycinemia skos:exactMatch MONDO:0017354 infantile glycine encephalopathy semapv:MappingCuration +NANDO:1200987 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:MappingCuration +NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:MappingCuration +NANDO:1200989 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:MappingCuration +NANDO:1200990 3-methylglutaconic aciduria type I skos:exactMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:MappingCuration +NANDO:1200991 3-methylglutaconicaciduria type II skos:exactMatch MONDO:0010543 Barth syndrome semapv:MappingCuration +NANDO:1200992 3-methylglutaconic aciduria type III skos:exactMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:MappingCuration +NANDO:1200994 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:MappingCuration +NANDO:1200996 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:MappingCuration +NANDO:1200997 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:MappingCuration +NANDO:1200998 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:MappingCuration +NANDO:1201000 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 anterior segment dysgenesis semapv:MappingCuration +NANDO:1201001 Aniridia skos:exactMatch MONDO:0019172 aniridia semapv:MappingCuration +NANDO:1201003 Congenital tracheal stenosis skos:exactMatch MONDO:0011340 congenital tracheal stenosis semapv:MappingCuration +NANDO:1201004 Congenital subglottic stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:MappingCuration +NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:exactMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:MappingCuration +NANDO:1201007 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:MappingCuration +NANDO:1201009 Systemic granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:MappingCuration +NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:exactMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:MappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:MappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0019563 CREST syndrome semapv:MappingCuration +NANDO:1201018 Hepatic glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:MappingCuration +NANDO:1201019 Hepatic glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:MappingCuration +NANDO:1201020 Hepatic glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:MappingCuration +NANDO:1201021 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:MappingCuration +NANDO:1201029 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:MappingCuration +NANDO:2100002 Leukemia skos:exactMatch MONDO:0004355 childhood leukemia semapv:MappingCuration +NANDO:2100002 Leukemia skos:exactMatch MONDO:0005059 leukemia semapv:MappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:MappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:MappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003659 pediatric lymphoma semapv:MappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003660 adult lymphoma semapv:MappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0005062 lymphoma semapv:MappingCuration +NANDO:2100005 Histiocytosis skos:exactMatch MONDO:0002637 histiocytosis semapv:MappingCuration +NANDO:2100007 Central nervous system tumors skos:exactMatch MONDO:0002714 central nervous system cancer semapv:MappingCuration +NANDO:2100008 Chronic kidney disease skos:exactMatch MONDO:0005300 chronic kidney disease semapv:MappingCuration +NANDO:2100009 Nephrotic syndrome skos:exactMatch MONDO:0005377 nephrotic syndrome semapv:MappingCuration +NANDO:2100012 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:MappingCuration +NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:MappingCuration +NANDO:2100015 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:MappingCuration +NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:MappingCuration +NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:MappingCuration +NANDO:2100019 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:MappingCuration +NANDO:2100020 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:MappingCuration +NANDO:2100021 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:MappingCuration +NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0005300 chronic kidney disease semapv:MappingCuration +NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0024327 chronic renal failure syndrome semapv:MappingCuration +NANDO:2100027 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:MappingCuration +NANDO:2100028 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:MappingCuration +NANDO:2100031 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:MappingCuration +NANDO:2100032 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:MappingCuration +NANDO:2100034 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:MappingCuration +NANDO:2100035 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:MappingCuration +NANDO:2100036 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:MappingCuration +NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:MappingCuration +NANDO:2100039 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:MappingCuration +NANDO:2100040 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:MappingCuration +NANDO:2100043 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:MappingCuration +NANDO:2100044 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:MappingCuration +NANDO:2100046 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:MappingCuration +NANDO:2100049 Ventricular tachycardia skos:exactMatch MONDO:0005477 ventricular tachycardia semapv:MappingCuration +NANDO:2100050 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:MappingCuration +NANDO:2100051 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:MappingCuration +NANDO:2100052 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:MappingCuration +NANDO:2100053 Long QT syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:MappingCuration +NANDO:2100054 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration +NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:MappingCuration +NANDO:2100057 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:MappingCuration +NANDO:2100058 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:MappingCuration +NANDO:2100060 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:MappingCuration +NANDO:2100061 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:MappingCuration +NANDO:2100064 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:MappingCuration +NANDO:2100070 Ischemic heart disease skos:exactMatch MONDO:0024644 myocardial ischemia semapv:MappingCuration +NANDO:2100071 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:MappingCuration +NANDO:2100073 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:MappingCuration +NANDO:2100075 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:MappingCuration +NANDO:2100076 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:MappingCuration +NANDO:2100077 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:MappingCuration +NANDO:2100079 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration +NANDO:2100080 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:MappingCuration +NANDO:2100082 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:MappingCuration +NANDO:2100083 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:MappingCuration +NANDO:2100084 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:MappingCuration +NANDO:2100085 Atrial septal defect skos:exactMatch MONDO:0006664 atrial septal defect semapv:MappingCuration +NANDO:2100086 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:MappingCuration +NANDO:2100087 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:MappingCuration +NANDO:2100090 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:MappingCuration +NANDO:2100092 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:MappingCuration +NANDO:2100093 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:MappingCuration +NANDO:2100095 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:MappingCuration +NANDO:2100098 Aortic stenosis skos:exactMatch MONDO:0004978 obsolete aortic stenosis semapv:MappingCuration +NANDO:2100101 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:MappingCuration +NANDO:2100103 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:MappingCuration +NANDO:2100105 Valvular heart disease skos:exactMatch MONDO:0002869 heart valve disorder semapv:MappingCuration +NANDO:2100109 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:MappingCuration +NANDO:2100110 Hypopituitarism skos:exactMatch MONDO:0005152 hypopituitarism semapv:MappingCuration +NANDO:2100111 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:MappingCuration +NANDO:2100112 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:MappingCuration +NANDO:2100114 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:MappingCuration +NANDO:2100115 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:MappingCuration +NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:MappingCuration +NANDO:2100117 Diabetes insipidus skos:exactMatch MONDO:0004782 diabetes insipidus semapv:MappingCuration +NANDO:2100119 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:MappingCuration +NANDO:2100120 Hypothyroidism skos:exactMatch MONDO:0005420 hypothyroidism semapv:MappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:MappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:MappingCuration +NANDO:2100123 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:MappingCuration +NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:MappingCuration +NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:MappingCuration +NANDO:2100125 Autoimmune polyendocrinopathy skos:exactMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:MappingCuration +NANDO:2100126 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:MappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:MappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:MappingCuration +NANDO:2100131 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:MappingCuration +NANDO:2100132 Hypoaldosteronism skos:exactMatch MONDO:0015900 hypoaldosteronism disease semapv:MappingCuration +NANDO:2100133 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:MappingCuration +NANDO:2100134 Congenital adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:MappingCuration +NANDO:2100135 Precocious puberty skos:exactMatch MONDO:0000088 precocious puberty semapv:MappingCuration +NANDO:2100138 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:MappingCuration +NANDO:2100139 Hypergonadotropic hypogonadism skos:exactMatch MONDO:0005387 primary ovarian failure semapv:MappingCuration +NANDO:2100140 Disorders of sex development skos:exactMatch MONDO:0002145 disorder of sexual differentiation semapv:MappingCuration +NANDO:2100142 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:MappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:MappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:MappingCuration +NANDO:2100144 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:MappingCuration +NANDO:2100147 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:MappingCuration +NANDO:2100148 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 multiple endocrine neoplasia semapv:MappingCuration +NANDO:2100149 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:MappingCuration +NANDO:2100151 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:MappingCuration +NANDO:2100152 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:MappingCuration +NANDO:2100154 Relapsing Polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:MappingCuration +NANDO:2100156 Autoinflammatory disease skos:exactMatch MONDO:0019751 autoinflammatory syndrome semapv:MappingCuration +NANDO:2100157 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:MappingCuration +NANDO:2100158 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:MappingCuration +NANDO:2100159 Inborn errors of metabolism skos:exactMatch MONDO:0019052 inborn errors of metabolism semapv:MappingCuration +NANDO:2100160 Disorder of amino acid metabolism skos:exactMatch MONDO:0037871 amino acid metabolism disease semapv:MappingCuration +NANDO:2100161 Disorder of organic acid metabolism skos:exactMatch MONDO:0045022 disorder of organic acid metabolism semapv:MappingCuration +NANDO:2100162 Disorder of fatty-acid metabolism skos:exactMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:MappingCuration +NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:MappingCuration +NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:MappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:MappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0037792 carbohydrate metabolism disease semapv:MappingCuration +NANDO:2100165 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:MappingCuration +NANDO:2100166 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:MappingCuration +NANDO:2100172 Connective tissue disorder skos:exactMatch MONDO:0003900 connective tissue disorder semapv:MappingCuration +NANDO:2100174 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:MappingCuration +NANDO:2100175 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:MappingCuration +NANDO:2100176 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:MappingCuration +NANDO:2100177 Pure red cell aplasia skos:exactMatch MONDO:0001705 pure red-cell aplasia semapv:MappingCuration +NANDO:2100178 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:MappingCuration +NANDO:2100179 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:MappingCuration +NANDO:2100180 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:MappingCuration +NANDO:2100181 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:MappingCuration +NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:MappingCuration +NANDO:2100183 Hereditary hemolytic anemia skos:exactMatch MONDO:0003689 familial hemolytic anemia semapv:MappingCuration +NANDO:2100186 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:MappingCuration +NANDO:2100187 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:MappingCuration +NANDO:2100188 Thrombocytopenic purpura skos:exactMatch MONDO:0043768 thrombocytopenic purpura semapv:MappingCuration +NANDO:2100189 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:MappingCuration +NANDO:2100192 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:MappingCuration +NANDO:2100193 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:MappingCuration +NANDO:2100194 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:MappingCuration +NANDO:2100197 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:MappingCuration +NANDO:2100198 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:MappingCuration +NANDO:2100200 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:MappingCuration +NANDO:2100201 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:MappingCuration +NANDO:2100202 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:MappingCuration +NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0015131 combined immunodeficiency semapv:MappingCuration +NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:MappingCuration +NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0003778 inborn error of immunity semapv:MappingCuration +NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0021094 immunodeficiency disease semapv:MappingCuration +NANDO:2100212 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:MappingCuration +NANDO:2100213 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:MappingCuration +NANDO:2100214 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:MappingCuration +NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:MappingCuration +NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:MappingCuration +NANDO:2100216 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:MappingCuration +NANDO:2100217 Brain malformation skos:exactMatch MONDO:0016054 cerebral malformation semapv:MappingCuration +NANDO:2100218 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:MappingCuration +NANDO:2100219 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:MappingCuration +NANDO:2100220 Neurocutaneous syndrome skos:exactMatch MONDO:0042983 neurocutaneous syndrome semapv:MappingCuration +NANDO:2100221 Progeroid syndromes skos:exactMatch MONDO:0015333 progeroid syndrome semapv:MappingCuration +NANDO:2100223 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:MappingCuration +NANDO:2100224 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:MappingCuration +NANDO:2100226 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:MappingCuration +NANDO:2100227 Craniosynostosis skos:exactMatch MONDO:0015469 craniosynostosis semapv:MappingCuration +NANDO:2100228 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:MappingCuration +NANDO:2100229 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:MappingCuration +NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:MappingCuration +NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0019079 proximal spinal muscular atrophy semapv:MappingCuration +NANDO:2100233 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:MappingCuration +NANDO:2100234 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:MappingCuration +NANDO:2100235 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:MappingCuration +NANDO:2100237 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:MappingCuration +NANDO:2100238 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:MappingCuration +NANDO:2100239 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration +NANDO:2100240 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:MappingCuration +NANDO:2100241 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:MappingCuration +NANDO:2100242 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:MappingCuration +NANDO:2100244 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:MappingCuration +NANDO:2100245 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration +NANDO:2100246 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:MappingCuration +NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingCuration +NANDO:2100248 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:MappingCuration +NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:MappingCuration +NANDO:2100250 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:MappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:MappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:MappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:MappingCuration +NANDO:2100252 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:MappingCuration +NANDO:2100255 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:MappingCuration +NANDO:2100256 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:MappingCuration +NANDO:2100257 Polyposis skos:exactMatch MONDO:0000147 polyposis semapv:MappingCuration +NANDO:2100258 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:MappingCuration +NANDO:2100259 Inflammatory bowel disease skos:exactMatch MONDO:0005265 inflammatory bowel disease semapv:MappingCuration +NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:MappingCuration +NANDO:2100264 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:MappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:MappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:MappingCuration +NANDO:2100267 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:MappingCuration +NANDO:2100268 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:MappingCuration +NANDO:2100272 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:MappingCuration +NANDO:2100274 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:MappingCuration +NANDO:2100279 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:MappingCuration +NANDO:2100280 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:MappingCuration +NANDO:2100281 Skin disease skos:exactMatch MONDO:0005093 skin disorder semapv:MappingCuration +NANDO:2100283 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:MappingCuration +NANDO:2100284 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:MappingCuration +NANDO:2100285 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:MappingCuration +NANDO:2100286 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:MappingCuration +NANDO:2100287 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:MappingCuration +NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:MappingCuration +NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:MappingCuration +NANDO:2100290 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:MappingCuration +NANDO:2100291 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:MappingCuration +NANDO:2100293 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:MappingCuration +NANDO:2100294 Vascular disease skos:exactMatch MONDO:0005385 vascular disorder semapv:MappingCuration +NANDO:2100295 Vascular malformation skos:exactMatch MONDO:0024291 vascular malformation semapv:MappingCuration +NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:MappingCuration +NANDO:2100297 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:MappingCuration +NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:MappingCuration +NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:exactMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:MappingCuration +NANDO:2200003 T-cell lymphoblastic leukemia skos:exactMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:MappingCuration +NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:exactMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:MappingCuration +NANDO:2200005 Acute myeloid leukemia without maturation skos:exactMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:MappingCuration +NANDO:2200006 Acute myeloid leukemia with maturation skos:exactMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:MappingCuration +NANDO:2200007 Acute promyelocytic leukemia skos:exactMatch MONDO:0012883 acute promyelocytic leukemia semapv:MappingCuration +NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:MappingCuration +NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:MappingCuration +NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:MappingCuration +NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:MappingCuration +NANDO:2200010 Acute erythremia skos:exactMatch MONDO:0017858 acute erythroid leukemia semapv:MappingCuration +NANDO:2200011 Acute megakaryoblastic leukemia skos:exactMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:MappingCuration +NANDO:2200012 NK cell leukemia skos:exactMatch MONDO:0019470 aggressive NK-cell leukemia semapv:MappingCuration +NANDO:2200013 Chronic myeloid leukemia skos:exactMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:MappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:MappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:MappingCuration +NANDO:2200015 Juvenile myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:MappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:MappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0020321 acute undifferentiated leukemia semapv:MappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:MappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0020743 mixed phenotype acute leukemia semapv:MappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:MappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:MappingCuration +NANDO:2200020 Mature B-cell lymphoma skos:exactMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:MappingCuration +NANDO:2200021 Anaplastic large cell lymphoma skos:exactMatch MONDO:0020325 anaplastic large cell lymphoma semapv:MappingCuration +NANDO:2200022 Precursor B lymphoblastic lymphoma skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:MappingCuration +NANDO:2200023 Precursor T lymphoblastic lymphoma skos:exactMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:MappingCuration +NANDO:2200024 Hodgkin lymphoma skos:exactMatch MONDO:0004952 Hodgkins lymphoma semapv:MappingCuration +NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:exactMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:MappingCuration +NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:exactMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:MappingCuration +NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:exactMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:MappingCuration +NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:exactMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:MappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:MappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:MappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0018310 Langerhans cell histiocytosis semapv:MappingCuration +NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:exactMatch MONDO:0015540 hemophagocytic syndrome semapv:MappingCuration +NANDO:2200034 Follicular dendritic cell sarcoma skos:exactMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:MappingCuration +NANDO:2200035 Interdigitating dendritic cell sarcoma skos:exactMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:MappingCuration +NANDO:2200036 Langerhans cell sarcoma skos:exactMatch MONDO:0019480 Langerhans cell sarcoma semapv:MappingCuration +NANDO:2200037 Juvenile xanthogranuloma skos:exactMatch MONDO:0015534 juvenile xanthogranuloma semapv:MappingCuration +NANDO:2200038 Erdheim-Chester disease skos:exactMatch MONDO:0018153 Erdheim-Chester disease semapv:MappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:MappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:MappingCuration +NANDO:2200040 Neuroblastoma skos:exactMatch MONDO:0005072 neuroblastoma semapv:MappingCuration +NANDO:2200041 Ganglioneuroblastoma skos:exactMatch MONDO:0005035 ganglioneuroblastoma semapv:MappingCuration +NANDO:2200042 Retinoblastoma skos:exactMatch MONDO:0008380 retinoblastoma semapv:MappingCuration +NANDO:2200043 Wilms tumour skos:exactMatch MONDO:0019004 kidney Wilms tumor semapv:MappingCuration +NANDO:2200044 Clear cell sarcoma of the kidney skos:exactMatch MONDO:0005006 clear cell sarcoma of kidney semapv:MappingCuration +NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005086 renal cell carcinoma semapv:MappingCuration +NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005549 renal cell adenocarcinoma semapv:MappingCuration +NANDO:2200046 Hepatoblastoma skos:exactMatch MONDO:0018666 hepatoblastoma semapv:MappingCuration +NANDO:2200047 Hepatocellular carcinoma skos:exactMatch MONDO:0007256 hepatocellular carcinoma semapv:MappingCuration +NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0002623 pediatric osteosarcoma semapv:MappingCuration +NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0009807 osteosarcoma semapv:MappingCuration +NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:MappingCuration +NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:MappingCuration +NANDO:2200050 Chondrosarcoma skos:exactMatch MONDO:0008977 chondrosarcoma semapv:MappingCuration +NANDO:2200051 Chondroblastoma skos:exactMatch MONDO:0004997 chondroblastoma semapv:MappingCuration +NANDO:2200052 Malignancy in giant cell tumour of bone skos:exactMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:MappingCuration +NANDO:2200053 Ewing's sarcoma skos:exactMatch MONDO:0012817 Ewing sarcoma semapv:MappingCuration +NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:MappingCuration +NANDO:2200056 Rhabdomyosarcoma skos:exactMatch MONDO:0005212 rhabdomyosarcoma semapv:MappingCuration +NANDO:2200057 Malignant rhabdoid tumour skos:exactMatch MONDO:0002728 rhabdoid tumor semapv:MappingCuration +NANDO:2200058 Undifferentiated sarcoma skos:exactMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:MappingCuration +NANDO:2200059 Desmoplastic small round cell tumors skos:exactMatch MONDO:0019373 desmoplastic small round cell tumor semapv:MappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002676 adult fibrosarcoma semapv:MappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002678 pediatric fibrosarcoma semapv:MappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0005164 fibrosarcoma semapv:MappingCuration +NANDO:2200061 Synovial sarcoma skos:exactMatch MONDO:0010434 synovial sarcoma semapv:MappingCuration +NANDO:2200062 Clear cell sarcoma skos:exactMatch MONDO:0002926 clear cell sarcoma semapv:MappingCuration +NANDO:2200063 Alveolar soft part sarcoma skos:exactMatch MONDO:0011655 alveolar soft part sarcoma semapv:MappingCuration +NANDO:2200064 Leiomyosarcoma skos:exactMatch MONDO:0005058 leiomyosarcoma semapv:MappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003585 adult liposarcoma semapv:MappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003587 pediatric liposarcoma semapv:MappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0005060 liposarcoma semapv:MappingCuration +NANDO:2200066 Dysgerminoma skos:exactMatch MONDO:0003002 dysgerminoma semapv:MappingCuration +NANDO:2200067 Embryonal carcinoma skos:exactMatch MONDO:0005440 embryonal carcinoma semapv:MappingCuration +NANDO:2200068 Polyembryoma skos:exactMatch MONDO:0015863 polyembryoma semapv:MappingCuration +NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0005744 yolk sac tumor semapv:MappingCuration +NANDO:2200070 Choriocarcinoma skos:exactMatch MONDO:0005207 choriocarcinoma semapv:MappingCuration +NANDO:2200071 Mixed germ cell tumour skos:exactMatch MONDO:0015864 mixed germ cell tumor semapv:MappingCuration +NANDO:2200072 Sex-cord stromal tumour skos:exactMatch MONDO:0006055 sex cord-stromal tumor semapv:MappingCuration +NANDO:2200073 Adrenocortical carcinoma skos:exactMatch MONDO:0006639 adrenal cortex carcinoma semapv:MappingCuration +NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0002108 thyroid cancer semapv:MappingCuration +NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0015075 thyroid gland carcinoma semapv:MappingCuration +NANDO:2200076 Salivary grand carcinoma skos:exactMatch MONDO:0000521 salivary gland carcinoma semapv:MappingCuration +NANDO:2200077 Malignant melanoma skos:exactMatch MONDO:0005105 melanoma semapv:MappingCuration +NANDO:2200078 Pheochromocytoma skos:exactMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:MappingCuration +NANDO:2200079 Malignant thymoma skos:exactMatch MONDO:0006451 thymic carcinoma semapv:MappingCuration +NANDO:2200080 Pleuropulmonaryblastoma skos:exactMatch MONDO:0011014 pleuropulmonary blastoma semapv:MappingCuration +NANDO:2200081 Bronchial tumour skos:exactMatch MONDO:0002807 bronchial neoplasm semapv:MappingCuration +NANDO:2200082 Pancreatoblastoma skos:exactMatch MONDO:0019035 pancreatoblastoma semapv:MappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:MappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0016691 pilocytic astrocytoma semapv:MappingCuration +NANDO:2200085 Diffuse astrocytoma skos:exactMatch MONDO:0016686 diffuse astrocytoma semapv:MappingCuration +NANDO:2200086 Anaplastic astrocytoma skos:exactMatch MONDO:0016684 anaplastic astrocytoma semapv:MappingCuration +NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0018177 glioblastoma semapv:MappingCuration +NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0020690 adult glioblastoma semapv:MappingCuration +NANDO:2200088 Ependymoma skos:exactMatch MONDO:0016698 ependymoma semapv:MappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002540 childhood oligodendroglioma semapv:MappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002543 adult oligodendroglioma semapv:MappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0016695 oligodendroglioma semapv:MappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002794 adult medulloblastoma semapv:MappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002797 childhood medulloblastoma semapv:MappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0007959 medulloblastoma semapv:MappingCuration +NANDO:2200091 Craniopharyngioma skos:exactMatch MONDO:0018907 craniopharyngioma semapv:MappingCuration +NANDO:2200092 Pineocytoma skos:exactMatch MONDO:0016723 pineocytoma semapv:MappingCuration +NANDO:2200093 Choroid plexus papilloma skos:exactMatch MONDO:0009837 choroid plexus papilloma semapv:MappingCuration +NANDO:2200094 Meningioma skos:exactMatch MONDO:0003057 pediatric meningioma semapv:MappingCuration +NANDO:2200094 Meningioma skos:exactMatch MONDO:0016642 meningioma semapv:MappingCuration +NANDO:2200095 Pituitary adenoma skos:exactMatch MONDO:0006373 pituitary gland adenoma semapv:MappingCuration +NANDO:2200096 Ganglioglioma skos:exactMatch MONDO:0016733 ganglioglioma semapv:MappingCuration +NANDO:2200097 Gangliocytoma skos:exactMatch MONDO:0016730 gangliocytoma semapv:MappingCuration +NANDO:2200098 Chordoma skos:exactMatch MONDO:0008978 chordoma semapv:MappingCuration +NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:MappingCuration +NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:MappingCuration +NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:exactMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:MappingCuration +NANDO:2200102 Malignant neurinoma skos:exactMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:MappingCuration +NANDO:2200103 Neurinoma skos:exactMatch MONDO:0002546 schwannoma semapv:MappingCuration +NANDO:2200104 Teratoma of the central nervous system skos:exactMatch MONDO:0002718 central nervous system teratoma semapv:MappingCuration +NANDO:2200105 Mature teratoma skos:exactMatch MONDO:0003517 mature teratoma semapv:MappingCuration +NANDO:2200106 Immature teratoma skos:exactMatch MONDO:0024746 immature teratoma semapv:MappingCuration +NANDO:2200107 Teratoma with malignant transformation skos:exactMatch MONDO:0006444 teratoma with malignant transformation semapv:MappingCuration +NANDO:2200108 Intracranial germ cell tumour skos:exactMatch MONDO:0004218 childhood germ cell brain tumor semapv:MappingCuration +NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:exactMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:MappingCuration +NANDO:2200112 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:MappingCuration +NANDO:2200113 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:MappingCuration +NANDO:2200114 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:MappingCuration +NANDO:2200116 Denys-Drash syndrome skos:exactMatch MONDO:0008682 Denys-Drash syndrome semapv:MappingCuration +NANDO:2200117 Pierson syndrome skos:exactMatch MONDO:0012184 Pierson syndrome semapv:MappingCuration +NANDO:2200118 Central nervous system malformation syndrome skos:exactMatch MONDO:0020022 central nervous system malformation semapv:MappingCuration +NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:MappingCuration +NANDO:2200120 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:MappingCuration +NANDO:2200121 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:MappingCuration +NANDO:2200122 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:MappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:MappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:MappingCuration +NANDO:2200125 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:MappingCuration +NANDO:2200126 Alport syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:MappingCuration +NANDO:2200127 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:MappingCuration +NANDO:2200128 Lupus nephritis skos:exactMatch MONDO:0005556 lupus nephritis semapv:MappingCuration +NANDO:2200131 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:MappingCuration +NANDO:2200132 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:MappingCuration +NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:exactMatch MONDO:0007671 fibronectin glomerulopathy semapv:MappingCuration +NANDO:2200134 Lipoprotein glomerulopathy skos:exactMatch MONDO:0012725 lipoprotein glomerulopathy semapv:MappingCuration +NANDO:2200136 Tubulointerstitial nephritis skos:exactMatch MONDO:0001085 interstitial nephritis semapv:MappingCuration +NANDO:2200137 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:MappingCuration +NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0019065 amyloidosis semapv:MappingCuration +NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:MappingCuration +NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:MappingCuration +NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:MappingCuration +NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:MappingCuration +NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:MappingCuration +NANDO:2200144 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:MappingCuration +NANDO:2200145 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:MappingCuration +NANDO:2200146 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:MappingCuration +NANDO:2200152 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:MappingCuration +NANDO:2200153 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:MappingCuration +NANDO:2200154 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:MappingCuration +NANDO:2200155 Hypoplastic kidney skos:exactMatch MONDO:0019637 renal hypoplasia semapv:MappingCuration +NANDO:2200156 Renal aplasia skos:exactMatch MONDO:0018470 renal agenesis semapv:MappingCuration +NANDO:2200157 Potter syndrome skos:exactMatch MONDO:0001558 Potter sequence semapv:MappingCuration +NANDO:2200158 Multicystic dysplastic kidney skos:exactMatch MONDO:0015988 multicystic dysplastic kidney semapv:MappingCuration +NANDO:2200159 Oligomeganephronia skos:exactMatch MONDO:0016407 oligomeganephronia semapv:MappingCuration +NANDO:2200161 Renal dysplasia skos:exactMatch MONDO:0019638 renal dysplasia semapv:MappingCuration +NANDO:2200170 Medullary cystic kidney skos:exactMatch MONDO:0019005 nephronophthisis semapv:MappingCuration +NANDO:2200171 Multilocular cysts of the kidney skos:exactMatch MONDO:0019983 multiloculated renal cyst semapv:MappingCuration +NANDO:2200172 Simple renal cyst skos:exactMatch MONDO:0002473 cystic kidney disease semapv:MappingCuration +NANDO:2200173 Medullary sponge kidney skos:exactMatch MONDO:0015268 medullary sponge kidney semapv:MappingCuration +NANDO:2200176 Ureteropelvic junction obstruction skos:exactMatch MONDO:0007741 congenital hydronephrosis semapv:MappingCuration +NANDO:2200177 Megacalycosis skos:exactMatch MONDO:0019639 congenital megacalycosis semapv:MappingCuration +NANDO:2200178 Obstructive uropathy skos:exactMatch MONDO:0003330 urinary tract obstruction semapv:MappingCuration +NANDO:2200179 Vesicoureteral reflux skos:exactMatch MONDO:0006007 vesicoureteral reflux semapv:MappingCuration +NANDO:2200183 Ureteroceles skos:exactMatch MONDO:0008628 ureterocele semapv:MappingCuration +NANDO:2200184 Megaureter skos:exactMatch MONDO:0018960 congenital primary megaureter semapv:MappingCuration +NANDO:2200185 Prune belly syndrome skos:exactMatch MONDO:0007032 prune belly syndrome semapv:MappingCuration +NANDO:2200187 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:MappingCuration +NANDO:2200188 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:MappingCuration +NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:MappingCuration +NANDO:2200194 Tracheal stenosis skos:exactMatch MONDO:0002568 tracheal stenosis semapv:MappingCuration +NANDO:2200195 Tracheomalacia skos:exactMatch MONDO:0019804 tracheomalacia semapv:MappingCuration +NANDO:2200198 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:MappingCuration +NANDO:2200199 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:MappingCuration +NANDO:2200200 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:MappingCuration +NANDO:2200202 Pulmonary alveolar microlithiasis skos:exactMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:MappingCuration +NANDO:2200203 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:MappingCuration +NANDO:2200204 Kartagener syndrome skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:MappingCuration +NANDO:2200205 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:MappingCuration +NANDO:2200206 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:MappingCuration +NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:MappingCuration +NANDO:2200209 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:MappingCuration +NANDO:2200210 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:MappingCuration +NANDO:2200212 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:MappingCuration +NANDO:2200213 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:MappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0000468 third-degree atrioventricular block semapv:MappingCuration +NANDO:2200215 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:MappingCuration +NANDO:2200216 Polymorphic ventricular premature beat skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:MappingCuration +NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:exactMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:MappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005479 atrial tachycardia semapv:MappingCuration +NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:MappingCuration +NANDO:2200225 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:MappingCuration +NANDO:2200226 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:MappingCuration +NANDO:2200227 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:MappingCuration +NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:MappingCuration +NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0019171 familial long QT syndrome semapv:MappingCuration +NANDO:2200229 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration +NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:MappingCuration +NANDO:2200231 Non-compaction of the ventricle skos:exactMatch MONDO:0018901 left ventricular noncompaction semapv:MappingCuration +NANDO:2200232 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:MappingCuration +NANDO:2200233 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:MappingCuration +NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0006779 heart aneurysm semapv:MappingCuration +NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0015677 cardiac diverticulum semapv:MappingCuration +NANDO:2200235 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:MappingCuration +NANDO:2200236 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:MappingCuration +NANDO:2200239 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:MappingCuration +NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:exactMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:MappingCuration +NANDO:2200246 Stenosis or atresia of coronary artery skos:exactMatch MONDO:0006715 coronary stenosis semapv:MappingCuration +NANDO:2200248 Myocardial infarction skos:exactMatch MONDO:0005068 myocardial infarction semapv:MappingCuration +NANDO:2200249 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:MappingCuration +NANDO:2200250 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:MappingCuration +NANDO:2200251 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:MappingCuration +NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:MappingCuration +NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:MappingCuration +NANDO:2200254 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:MappingCuration +NANDO:2200256 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:MappingCuration +NANDO:2200257 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:MappingCuration +NANDO:2200258 Complete transposition of the great arteries skos:exactMatch MONDO:0000153 transposition of the great arteries semapv:MappingCuration +NANDO:2200259 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration +NANDO:2200260 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:MappingCuration +NANDO:2200262 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:MappingCuration +NANDO:2200263 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:MappingCuration +NANDO:2200264 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:MappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:MappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020439 patent foramen ovale semapv:MappingCuration +NANDO:2200267 Atrial septal defect, sinus venosus type skos:exactMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:MappingCuration +NANDO:2200268 Incomplete atrioventricular septal defect skos:exactMatch MONDO:0015275 partial atrioventricular canal semapv:MappingCuration +NANDO:2200269 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:MappingCuration +NANDO:2200270 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:MappingCuration +NANDO:2200271 Total anomalous pulmonary venous connection skos:exactMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:MappingCuration +NANDO:2200272 Partial anomalous pulmonary venous connection skos:exactMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:MappingCuration +NANDO:2200273 Pulmonary venous obstruction skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:MappingCuration +NANDO:2200274 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:MappingCuration +NANDO:2200275 Double-chambered right ventricle skos:exactMatch MONDO:0016581 conotruncal heart malformations semapv:MappingCuration +NANDO:2200276 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:MappingCuration +NANDO:2200277 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:MappingCuration +NANDO:2200278 Supravalvular pulmonary stenosis skos:exactMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:MappingCuration +NANDO:2200280 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:MappingCuration +NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:exactMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:MappingCuration +NANDO:2200282 Unilateral absence of a pulmonary artery skos:exactMatch MONDO:0020007 absence of the pulmonary artery semapv:MappingCuration +NANDO:2200283 Coarctation of the aorta skos:exactMatch MONDO:0007345 aorta coarctation semapv:MappingCuration +NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0007345 aorta coarctation semapv:MappingCuration +NANDO:2200285 Supravalvular aortic stenosis skos:exactMatch MONDO:0008504 supravalvular aortic stenosis semapv:MappingCuration +NANDO:2200286 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:MappingCuration +NANDO:2200288 Interruption of aortic arch complex skos:exactMatch MONDO:0009010 aortic arch interruption semapv:MappingCuration +NANDO:2200290 Double aortic arch disease skos:exactMatch MONDO:0020413 encircling double aortic arch semapv:MappingCuration +NANDO:2200293 Aneurysm of sinus valsalva skos:exactMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:MappingCuration +NANDO:2200294 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:MappingCuration +NANDO:2200295 Pulmonary arteriovenous fistulae skos:exactMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:MappingCuration +NANDO:2200296 Coronary artery fistula skos:exactMatch MONDO:0016081 coronary arterial fistulas semapv:MappingCuration +NANDO:2200298 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:MappingCuration +NANDO:2200299 Chronic cor pulmonale skos:exactMatch MONDO:0001493 chronic pulmonary heart disease semapv:MappingCuration +NANDO:2200300 Tricuspid valve stenosis skos:exactMatch MONDO:0005997 tricuspid valve stenosis semapv:MappingCuration +NANDO:2200301 Tricuspid valve regurgitation skos:exactMatch MONDO:0002870 tricuspid valve insufficiency semapv:MappingCuration +NANDO:2200302 Mitral valve stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:MappingCuration +NANDO:2200303 Mitral regurgitation skos:exactMatch MONDO:0001298 congenital mitral valve insufficiency semapv:MappingCuration +NANDO:2200304 Pulmonary valve stenosis skos:exactMatch MONDO:0006936 pulmonary valve stenosis semapv:MappingCuration +NANDO:2200305 Pulmonary valve regurgitation skos:exactMatch MONDO:0001927 pulmonary valve insufficiency semapv:MappingCuration +NANDO:2200306 Aortic valve stenosis skos:exactMatch MONDO:0042981 aortic valve stenosis semapv:MappingCuration +NANDO:2200307 Aortic valve regurgitation skos:exactMatch MONDO:0005648 aortic valve insufficiency semapv:MappingCuration +NANDO:2200308 Supramitral ring skos:exactMatch MONDO:0020400 congenital supravalvular mitral ring semapv:MappingCuration +NANDO:2200312 Congenital hypopituitarism skos:exactMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:MappingCuration +NANDO:2200313 Acquired hypopituitarism skos:exactMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:MappingCuration +NANDO:2200314 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:MappingCuration +NANDO:2200315 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:MappingCuration +NANDO:2200317 Congenital growth hormone deficiency skos:exactMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:MappingCuration +NANDO:2200320 IGF1 insensitivity skos:exactMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:MappingCuration +NANDO:2200321 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:MappingCuration +NANDO:2200322 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:MappingCuration +NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:MappingCuration +NANDO:2200324 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:MappingCuration +NANDO:2200325 Adipsic hypernatremia skos:exactMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:MappingCuration +NANDO:2200326 Nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:MappingCuration +NANDO:2200328 Basedow disease skos:exactMatch MONDO:0005364 Graves disease semapv:MappingCuration +NANDO:2200329 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:MappingCuration +NANDO:2200330 Ectoic thyroid skos:exactMatch MONDO:0019854 thyroid ectopia semapv:MappingCuration +NANDO:2200331 Thyroid agenesis skos:exactMatch MONDO:0019855 athyreosis semapv:MappingCuration +NANDO:2200332 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:MappingCuration +NANDO:2200333 Congenital hypothyroidism skos:exactMatch MONDO:0018612 congenital hypothyroidism semapv:MappingCuration +NANDO:2200335 Hashimoto disease skos:exactMatch MONDO:0007699 Hashimoto thyroiditis semapv:MappingCuration +NANDO:2200336 Atrophic thyroiditis skos:exactMatch MONDO:0005624 atrophic thyroiditis semapv:MappingCuration +NANDO:2200340 Central hypothyroidism skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:MappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:MappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:MappingCuration +NANDO:2200343 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:MappingCuration +NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:MappingCuration +NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:MappingCuration +NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:MappingCuration +NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:exactMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:MappingCuration +NANDO:2200348 Pseudopseudohypoparathyroidism skos:exactMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:MappingCuration +NANDO:2200349 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:MappingCuration +NANDO:2200350 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:MappingCuration +NANDO:2200351 Ectopic ACTH syndrome skos:exactMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:MappingCuration +NANDO:2200352 Adrenal adenoma skos:exactMatch MONDO:0003924 adrenal cortex adenoma semapv:MappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:MappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration +NANDO:2200358 Glucocorticoid resistance skos:exactMatch MONDO:0014421 glucocorticoid resistance semapv:MappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:MappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:MappingCuration +NANDO:2200360 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:MappingCuration +NANDO:2200360 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:MappingCuration +NANDO:2200361 Aldosteronism skos:exactMatch MONDO:0001422 primary aldosteronism semapv:MappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:MappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:MappingCuration +NANDO:2200363 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:MappingCuration +NANDO:2200365 Aldosterone synthase deficiency skos:exactMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:MappingCuration +NANDO:2200367 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:MappingCuration +NANDO:2200368 Pseudohypoaldosteronism type I skos:exactMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:MappingCuration +NANDO:2200369 Pseudohypoaldosteronism type II skos:exactMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:MappingCuration +NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:MappingCuration +NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:MappingCuration +NANDO:2200372 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:MappingCuration +NANDO:2200373 17 alpha-hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:MappingCuration +NANDO:2200375 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:MappingCuration +NANDO:2200377 Gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:MappingCuration +NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0015791 peripheral precocious puberty semapv:MappingCuration +NANDO:2200379 Hyperestrogenism skos:exactMatch MONDO:0001946 obsolete hyperestrogenism semapv:MappingCuration +NANDO:2200380 Hyperandrogenism skos:exactMatch MONDO:0001324 obsolete hyperandrogenism semapv:MappingCuration +NANDO:2200381 Kallmann syndrome skos:exactMatch MONDO:0018800 Kallmann syndrome semapv:MappingCuration +NANDO:2200382 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:MappingCuration +NANDO:2200383 Testicular dysgenesis skos:exactMatch MONDO:0005437 testicular dysgenesis syndrome semapv:MappingCuration +NANDO:2200386 Klinefelter syndrome skos:exactMatch MONDO:0006823 Klinefelter syndrome semapv:MappingCuration +NANDO:2200387 Ovotesticular dsd skos:exactMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:MappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0001969 mixed gonadal dysgenesis semapv:MappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:MappingCuration +NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:MappingCuration +NANDO:2200391 Androgen insensitivity syndrome skos:exactMatch MONDO:0019154 androgen insensitivity syndrome semapv:MappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020040 46,XY disorder of sex development semapv:MappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:MappingCuration +NANDO:2200394 Vipoma skos:exactMatch MONDO:0019960 VIPoma semapv:MappingCuration +NANDO:2200395 Gastrinoma skos:exactMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:MappingCuration +NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0005369 carcinoid tumor semapv:MappingCuration +NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0006689 obsolete carcinoid syndrome semapv:MappingCuration +NANDO:2200397 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:MappingCuration +NANDO:2200398 Insulinoma skos:exactMatch MONDO:0024677 pancreatic insulinoma semapv:MappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:MappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:MappingCuration +NANDO:2200401 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:MappingCuration +NANDO:2200402 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:MappingCuration +NANDO:2200403 Primary hypophosphatemic rickets skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:MappingCuration +NANDO:2200404 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:MappingCuration +NANDO:2200405 Multiple endocrine neoplasia type 1 skos:exactMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:MappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:MappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:MappingCuration +NANDO:2200408 Von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:MappingCuration +NANDO:2200409 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:MappingCuration +NANDO:2200410 Turner syndrome skos:exactMatch MONDO:0019499 Turner syndrome semapv:MappingCuration +NANDO:2200411 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:MappingCuration +NANDO:2200412 McCune-Albright syndrome skos:exactMatch MONDO:0018919 McCune-Albright syndrome semapv:MappingCuration +NANDO:2200413 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:MappingCuration +NANDO:2200414 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 Bardet-Biedl syndrome semapv:MappingCuration +NANDO:2200415 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:MappingCuration +NANDO:2200416 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:MappingCuration +NANDO:2200418 Juvenile dermatomyositis skos:exactMatch MONDO:0008054 juvenile dermatomyositis semapv:MappingCuration +NANDO:2200419 Juvenile polymyositis skos:exactMatch MONDO:0019734 juvenile polymyositis semapv:MappingCuration +NANDO:2200420 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:MappingCuration +NANDO:2200421 Anti-phospholipid antibody syndrome skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:MappingCuration +NANDO:2200422 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:MappingCuration +NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:MappingCuration +NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:MappingCuration +NANDO:2200424 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:MappingCuration +NANDO:2200426 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:MappingCuration +NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:MappingCuration +NANDO:2200428 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:MappingCuration +NANDO:2200429 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:MappingCuration +NANDO:2200430 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:MappingCuration +NANDO:2200431 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:MappingCuration +NANDO:2200432 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:MappingCuration +NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:MappingCuration +NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:exactMatch MONDO:0008523 Blau syndrome semapv:MappingCuration +NANDO:2200435 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:MappingCuration +NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:MappingCuration +NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0017708 mevalonate kinase deficiency semapv:MappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0004471 bacterial arthritis semapv:MappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:MappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0018824 pyoderma gangrenosum semapv:MappingCuration +NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:MappingCuration +NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:exactMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:MappingCuration +NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:MappingCuration +NANDO:2200443 CARD14 deficiency skos:exactMatch MONDO:0011269 psoriasis 2 semapv:MappingCuration +NANDO:2200444 Cherubism skos:exactMatch MONDO:0007315 cherubism semapv:MappingCuration +NANDO:2200446 IL10 deficiency skos:exactMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:MappingCuration +NANDO:2200447 IL-10RA deficiency skos:exactMatch MONDO:0013153 inflammatory bowel disease 28 semapv:MappingCuration +NANDO:2200448 IL-10RB deficiency skos:exactMatch MONDO:0012941 inflammatory bowel disease 25 semapv:MappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:MappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:MappingCuration +NANDO:2200451 PLCg2 deficiency skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:MappingCuration +NANDO:2200452 IL36RN deficiency skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:MappingCuration +NANDO:2200453 Majeed syndrome skos:exactMatch MONDO:0012316 Majeed syndrome semapv:MappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:MappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:MappingCuration +NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:MappingCuration +NANDO:2200456 RBCK1 deficiency skos:exactMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:MappingCuration +NANDO:2200457 SLC29A3 deficiency skos:exactMatch MONDO:0011273 H syndrome semapv:MappingCuration +NANDO:2200458 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:MappingCuration +NANDO:2200460 Diabetes mellitus type 1 skos:exactMatch MONDO:0005147 type 1 diabetes mellitus semapv:MappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0005148 type 2 diabetes mellitus semapv:MappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:MappingCuration +NANDO:2200462 Maturity-onset diabetes of the young skos:exactMatch MONDO:0018911 maturity-onset diabetes of the young semapv:MappingCuration +NANDO:2200463 Neonatal diabetes mellitus skos:exactMatch MONDO:0016391 neonatal diabetes mellitus semapv:MappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0005827 lipoatrophic diabetes semapv:MappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:MappingCuration +NANDO:2200467 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:MappingCuration +NANDO:2200468 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:MappingCuration +NANDO:2200469 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:MappingCuration +NANDO:2200470 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:MappingCuration +NANDO:2200471 Hyperprolinemia skos:exactMatch MONDO:0023419 hyperprolinemia semapv:MappingCuration +NANDO:2200472 Prolidase deficiency skos:exactMatch MONDO:0008221 prolidase deficiency semapv:MappingCuration +NANDO:2200473 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:MappingCuration +NANDO:2200474 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:MappingCuration +NANDO:2200475 Hypermethioninemia skos:exactMatch MONDO:0000351 disorder of methionine catabolism semapv:MappingCuration +NANDO:2200476 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:MappingCuration +NANDO:2200477 N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:MappingCuration +NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:MappingCuration +NANDO:2200479 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:MappingCuration +NANDO:2200480 Argininosuccinate synthetase deficiency skos:exactMatch MONDO:0008988 citrullinemia type I semapv:MappingCuration +NANDO:2200481 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:MappingCuration +NANDO:2200482 Hyperargininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:MappingCuration +NANDO:2200483 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:MappingCuration +NANDO:2200484 Hyperornithinemia skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:MappingCuration +NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch MONDO:0009393 ornithine translocase deficiency semapv:MappingCuration +NANDO:2200486 Gyrate atrophy of choroid and retina skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:MappingCuration +NANDO:2200487 Hartnup disease skos:exactMatch MONDO:0009324 Hartnup disease semapv:MappingCuration +NANDO:2200488 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:MappingCuration +NANDO:2200489 Cystinuria skos:exactMatch MONDO:0009067 cystinuria semapv:MappingCuration +NANDO:2200491 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:MappingCuration +NANDO:2200492 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:MappingCuration +NANDO:2200493 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:MappingCuration +NANDO:2200494 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:MappingCuration +NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:MappingCuration +NANDO:2200496 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:MappingCuration +NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:MappingCuration +NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:MappingCuration +NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:MappingCuration +NANDO:2200500 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:MappingCuration +NANDO:2200501 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:MappingCuration +NANDO:2200502 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:MappingCuration +NANDO:2200503 Primary hyperoxaluria skos:exactMatch MONDO:0002474 primary hyperoxaluria semapv:MappingCuration +NANDO:2200504 Alkaptonuria skos:exactMatch MONDO:0008753 alkaptonuria semapv:MappingCuration +NANDO:2200505 Glycerol kinase deficiency skos:exactMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:MappingCuration +NANDO:2200506 Inborn errors of bile acid metabolism skos:exactMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:MappingCuration +NANDO:2200508 Organic cation transporter 2 deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:MappingCuration +NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:MappingCuration +NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:MappingCuration +NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:MappingCuration +NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:MappingCuration +NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:MappingCuration +NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:MappingCuration +NANDO:2200515 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:MappingCuration +NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:MappingCuration +NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:MappingCuration +NANDO:2200519 Pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:MappingCuration +NANDO:2200520 Fumarase deficiency skos:exactMatch MONDO:0011730 fumaric aciduria semapv:MappingCuration +NANDO:2200522 Mitochondrial respiratory chain disorders skos:exactMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:MappingCuration +NANDO:2200523 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:MappingCuration +NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:exactMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:MappingCuration +NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:exactMatch MONDO:0010789 MELAS syndrome semapv:MappingCuration +NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:MappingCuration +NANDO:2200527 Leigh syndrome skos:exactMatch MONDO:0009723 Leigh syndrome semapv:MappingCuration +NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:MappingCuration +NANDO:2200529 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:MappingCuration +NANDO:2200531 Hereditary fructose intolerance skos:exactMatch MONDO:0009249 hereditary fructose intolerance semapv:MappingCuration +NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:MappingCuration +NANDO:2200533 Galactokinase deficiency skos:exactMatch MONDO:0009255 galactokinase deficiency semapv:MappingCuration +NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:exactMatch MONDO:0009257 galactose epimerase deficiency semapv:MappingCuration +NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:exactMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:MappingCuration +NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:MappingCuration +NANDO:2200537 Glycogen synthase deficiency skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:MappingCuration +NANDO:2200538 Glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:MappingCuration +NANDO:2200539 Glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:MappingCuration +NANDO:2200540 Glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:MappingCuration +NANDO:2200541 Glycogen storage disease type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:MappingCuration +NANDO:2200542 Glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:MappingCuration +NANDO:2200543 Glycogen storage disease type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:MappingCuration +NANDO:2200544 Glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:MappingCuration +NANDO:2200545 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:MappingCuration +NANDO:2200547 Mucopolysaccharidosis type I skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:MappingCuration +NANDO:2200548 Mucopolysaccharidosis type II skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:MappingCuration +NANDO:2200549 Mucopolysaccharidosis type III skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:MappingCuration +NANDO:2200550 Mucopolysaccharidosis type IV skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:MappingCuration +NANDO:2200551 Mucopolysaccharidosis type VI skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:MappingCuration +NANDO:2200552 Mucopolysaccharidosis type VII skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:MappingCuration +NANDO:2200553 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:MappingCuration +NANDO:2200555 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:MappingCuration +NANDO:2200556 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:MappingCuration +NANDO:2200557 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:MappingCuration +NANDO:2200558 GM1 Gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:MappingCuration +NANDO:2200559 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:MappingCuration +NANDO:2200560 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:MappingCuration +NANDO:2200561 Niemann-Pick disease skos:exactMatch MONDO:0001982 Niemann-Pick disease semapv:MappingCuration +NANDO:2200562 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:MappingCuration +NANDO:2200563 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:MappingCuration +NANDO:2200564 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:MappingCuration +NANDO:2200565 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:MappingCuration +NANDO:2200566 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:MappingCuration +NANDO:2200567 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:MappingCuration +NANDO:2200568 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:MappingCuration +NANDO:2200569 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:MappingCuration +NANDO:2200570 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:MappingCuration +NANDO:2200571 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:MappingCuration +NANDO:2200572 Free Sialic Acid Storage Disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:MappingCuration +NANDO:2200573 Neuronal ceroid lipofuscinoses skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:2200575 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:MappingCuration +NANDO:2200576 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:MappingCuration +NANDO:2200577 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:MappingCuration +NANDO:2200579 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:MappingCuration +NANDO:2200580 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:MappingCuration +NANDO:2200581 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:MappingCuration +NANDO:2200582 Aceruloplasminemia skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:MappingCuration +NANDO:2200583 Sulfite oxidase deficiency skos:exactMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:MappingCuration +NANDO:2200584 Acrodermatitis enteropathica skos:exactMatch MONDO:0008713 acrodermatitis enteropathica semapv:MappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:MappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:MappingCuration +NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:exactMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:MappingCuration +NANDO:2200588 Xanthinuria skos:exactMatch MONDO:0000721 xanthinuria semapv:MappingCuration +NANDO:2200590 Orotic aciduria skos:exactMatch MONDO:0009797 orotic aciduria semapv:MappingCuration +NANDO:2200592 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:MappingCuration +NANDO:2200594 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:MappingCuration +NANDO:2200595 Tyrosine hydroxylase deficiency skos:exactMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:MappingCuration +NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:MappingCuration +NANDO:2200597 Dopamine beta hydroxylase deficiency skos:exactMatch MONDO:0009123 orthostatic hypotension 1 semapv:MappingCuration +NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:exactMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:MappingCuration +NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:MappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0005439 familial hypercholesterolemia semapv:MappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:MappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0016525 familial hyperaldosteronism semapv:MappingCuration +NANDO:2200604 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:MappingCuration +NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0017773 hypoalphalipoproteinemia semapv:MappingCuration +NANDO:2200607 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:MappingCuration +NANDO:2200608 Lipoid proteinosis skos:exactMatch MONDO:0009530 lipoid proteinosis semapv:MappingCuration +NANDO:2200611 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:MappingCuration +NANDO:2200612 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:MappingCuration +NANDO:2200614 Congenital red cell aplasia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:MappingCuration +NANDO:2200615 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:MappingCuration +NANDO:2200616 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:MappingCuration +NANDO:2200617 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:MappingCuration +NANDO:2200618 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:MappingCuration +NANDO:2200619 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:MappingCuration +NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:MappingCuration +NANDO:2200622 Hereditary spherocytosis skos:exactMatch MONDO:0019350 hereditary spherocytosis semapv:MappingCuration +NANDO:2200623 Hereditary stomatocytosis skos:exactMatch MONDO:0020102 hereditary stomatocytosis semapv:MappingCuration +NANDO:2200624 Sickle cell disease skos:exactMatch MONDO:0011382 sickle cell anemia semapv:MappingCuration +NANDO:2200625 Unstable hemoglobin disease skos:exactMatch MONDO:0020459 unstable hemoglobin disease semapv:MappingCuration +NANDO:2200626 Thalassemia skos:exactMatch MONDO:0000984 thalassemia semapv:MappingCuration +NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:exactMatch MONDO:0005775 G6PD deficiency semapv:MappingCuration +NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:MappingCuration +NANDO:2200630 Hereditary elliptocytosis skos:exactMatch MONDO:0017319 hereditary elliptocytosis semapv:MappingCuration +NANDO:2200631 Hereditary pyropoikilocytosis skos:exactMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:MappingCuration +NANDO:2200633 Stomatocytic xerocytosis skos:exactMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:MappingCuration +NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:exactMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:MappingCuration +NANDO:2200635 Hemoglobin C disease skos:exactMatch MONDO:0016242 hemoglobin C disease semapv:MappingCuration +NANDO:2200636 Hemolytic anemia skos:exactMatch MONDO:0003664 hemolytic anemia semapv:MappingCuration +NANDO:2200637 Hypersplenism skos:exactMatch MONDO:0006795 hypersplenism semapv:MappingCuration +NANDO:2200639 Disseminated intravascular coagulation skos:exactMatch MONDO:0001243 disseminated intravascular coagulation semapv:MappingCuration +NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:exactMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:MappingCuration +NANDO:2200641 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:MappingCuration +NANDO:2200643 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:MappingCuration +NANDO:2200644 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:MappingCuration +NANDO:2200645 Immune thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:MappingCuration +NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:exactMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:MappingCuration +NANDO:2200648 Heparin-induced thrombocytopenia skos:exactMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:MappingCuration +NANDO:2200649 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:MappingCuration +NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:MappingCuration +NANDO:2200652 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:MappingCuration +NANDO:2200653 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:MappingCuration +NANDO:2200654 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:MappingCuration +NANDO:2200655 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:MappingCuration +NANDO:2200656 Bernard-Soulier syndrome skos:exactMatch MONDO:0009276 Bernard-Soulier syndrome semapv:MappingCuration +NANDO:2200657 Thrombasthenia skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:MappingCuration +NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:exactMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:MappingCuration +NANDO:2200661 Thrombocytopenia with absent radii skos:exactMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:MappingCuration +NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:exactMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:MappingCuration +NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:exactMatch MONDO:0008555 thrombocytopenia 2 semapv:MappingCuration +NANDO:2200664 ITGA2B/ITGB3 mutations skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:MappingCuration +NANDO:2200665 ACTN1 mutations skos:exactMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:MappingCuration +NANDO:2200667 β-1 tubulin disorders skos:exactMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:MappingCuration +NANDO:2200668 Platelet-type von Willebrand disease skos:exactMatch MONDO:0008332 platelet-type von Willebrand disease semapv:MappingCuration +NANDO:2200669 ADP receptor deficiencies skos:exactMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:MappingCuration +NANDO:2200670 Abnormalities in platelet collagen receptors skos:exactMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:MappingCuration +NANDO:2200671 Scott syndrome skos:exactMatch MONDO:0009885 Scott syndrome semapv:MappingCuration +NANDO:2200674 Factor V deficiency skos:exactMatch MONDO:0020586 factor V deficiency semapv:MappingCuration +NANDO:2200675 Factor VII deficiency skos:exactMatch MONDO:0002244 factor VII deficiency semapv:MappingCuration +NANDO:2200676 Hemophilia A skos:exactMatch MONDO:0010602 hemophilia A semapv:MappingCuration +NANDO:2200677 Hemophilia B skos:exactMatch MONDO:0010604 hemophilia B semapv:MappingCuration +NANDO:2200678 Factor X deficiency skos:exactMatch MONDO:0002247 factor X deficiency semapv:MappingCuration +NANDO:2200679 Factor XI deficiency skos:exactMatch MONDO:0020587 factor XI deficiency semapv:MappingCuration +NANDO:2200680 Factor XII deficiency skos:exactMatch MONDO:0009315 congenital factor XII deficiency semapv:MappingCuration +NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0002241 factor XIII deficiency semapv:MappingCuration +NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0018029 congenital factor XIII deficiency semapv:MappingCuration +NANDO:2200682 Von Willebrand disease skos:exactMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:MappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0012901 inherited prekallikrein deficiency semapv:MappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0044744 prekallikrein deficiency semapv:MappingCuration +NANDO:2200685 High molecular weight kininogen deficiency skos:exactMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:MappingCuration +NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:exactMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:MappingCuration +NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:exactMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:MappingCuration +NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:exactMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:MappingCuration +NANDO:2200689 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:MappingCuration +NANDO:2200690 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:MappingCuration +NANDO:2200692 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:MappingCuration +NANDO:2200693 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:MappingCuration +NANDO:2200694 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:MappingCuration +NANDO:2200695 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:MappingCuration +NANDO:2200696 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:MappingCuration +NANDO:2200697 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:MappingCuration +NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:MappingCuration +NANDO:2200699 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:MappingCuration +NANDO:2200701 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:MappingCuration +NANDO:2200702 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:MappingCuration +NANDO:2200704 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:MappingCuration +NANDO:2200705 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:MappingCuration +NANDO:2200706 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:MappingCuration +NANDO:2200707 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:MappingCuration +NANDO:2200708 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:MappingCuration +NANDO:2200710 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:MappingCuration +NANDO:2200711 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:MappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:MappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:MappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:MappingCuration +NANDO:2200713 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:MappingCuration +NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:MappingCuration +NANDO:2200715 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:MappingCuration +NANDO:2200716 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:MappingCuration +NANDO:2200717 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:MappingCuration +NANDO:2200718 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:MappingCuration +NANDO:2200719 Isolated IgG subclass deficiency skos:exactMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:MappingCuration +NANDO:2200720 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:MappingCuration +NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:MappingCuration +NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:MappingCuration +NANDO:2200724 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:MappingCuration +NANDO:2200725 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:MappingCuration +NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:MappingCuration +NANDO:2200728 Perforin deficiency skos:exactMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:MappingCuration +NANDO:2200729 UNC13D/Munc13-4 deficiency skos:exactMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:MappingCuration +NANDO:2200730 Syntaxin 11 deficiency skos:exactMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:MappingCuration +NANDO:2200731 STXBP2/Munc18-2 deficiency skos:exactMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:MappingCuration +NANDO:2200732 Griscelli syndrome type 2 skos:exactMatch MONDO:0011872 Griscelli syndrome type 2 semapv:MappingCuration +NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:exactMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:MappingCuration +NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:exactMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:MappingCuration +NANDO:2200735 CD27 deficiency skos:exactMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:MappingCuration +NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:MappingCuration +NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:MappingCuration +NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:MappingCuration +NANDO:2200740 Caspase-8 deficiency skos:exactMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:MappingCuration +NANDO:2200741 Fas-associated death domain protein deficiency skos:exactMatch MONDO:0013408 FADD-related immunodeficiency semapv:MappingCuration +NANDO:2200743 PKC-δ deficiency skos:exactMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:MappingCuration +NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:exactMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:MappingCuration +NANDO:2200745 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:MappingCuration +NANDO:2200746 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:MappingCuration +NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:exactMatch MONDO:0011405 poikiloderma with neutropenia semapv:MappingCuration +NANDO:2200750 Cohen syndrome skos:exactMatch MONDO:0008999 Cohen syndrome semapv:MappingCuration +NANDO:2200751 Barth syndrome skos:exactMatch MONDO:0010543 Barth syndrome semapv:MappingCuration +NANDO:2200752 P14 deficiency skos:exactMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:MappingCuration +NANDO:2200753 X linked severe congenital neutropenia skos:exactMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:MappingCuration +NANDO:2200754 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:MappingCuration +NANDO:2200755 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:MappingCuration +NANDO:2200756 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:MappingCuration +NANDO:2200757 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:MappingCuration +NANDO:2200758 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:MappingCuration +NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:MappingCuration +NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:MappingCuration +NANDO:2200762 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:MappingCuration +NANDO:2200763 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:MappingCuration +NANDO:2200764 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:MappingCuration +NANDO:2200766 HOIL-1 deficiency skos:exactMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:MappingCuration +NANDO:2200767 WHIM syndrome skos:exactMatch MONDO:0008674 obsolete WHIM syndrome semapv:MappingCuration +NANDO:2200768 Epidermodysplasia verruciformis skos:exactMatch MONDO:0009176 epidermodysplasia verruciformis semapv:MappingCuration +NANDO:2200770 STAT2 deficiency skos:exactMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:MappingCuration +NANDO:2200771 MCM4 mutation skos:exactMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:MappingCuration +NANDO:2200772 Herpes simplex encephalitis skos:exactMatch MONDO:0012521 herpes simplex encephalitis semapv:MappingCuration +NANDO:2200774 Trypanosomiasis skos:exactMatch MONDO:0000940 trypanosomiasis semapv:MappingCuration +NANDO:2200775 Isolated congenital asplenia skos:exactMatch MONDO:0010066 familial isolated congenital asplenia semapv:MappingCuration +NANDO:2200776 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:MappingCuration +NANDO:2200777 C1q deficiency skos:exactMatch MONDO:0013343 C1Q deficiency semapv:MappingCuration +NANDO:2200779 C1s deficiency skos:exactMatch MONDO:0013419 complement component C1s deficiency semapv:MappingCuration +NANDO:2200781 C2 deficiency skos:exactMatch MONDO:0009006 complement component 2 deficiency semapv:MappingCuration +NANDO:2200782 C3 deficiency skos:exactMatch MONDO:0013417 complement component 3 deficiency semapv:MappingCuration +NANDO:2200783 C5 deficiency skos:exactMatch MONDO:0012295 complement component 5 deficiency semapv:MappingCuration +NANDO:2200784 C6 deficiency skos:exactMatch MONDO:0012908 complement component 6 deficiency semapv:MappingCuration +NANDO:2200785 C7 deficiency skos:exactMatch MONDO:0012412 complement component 7 deficiency semapv:MappingCuration +NANDO:2200787 C9 deficiency skos:exactMatch MONDO:0013445 complement component 9 deficiency semapv:MappingCuration +NANDO:2200789 Properdin deficiency skos:exactMatch MONDO:0010713 properdin deficiency, X-linked semapv:MappingCuration +NANDO:2200791 Factor H deficiency skos:exactMatch MONDO:0012350 complement factor H deficiency semapv:MappingCuration +NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:exactMatch MONDO:0017398 3MC syndrome semapv:MappingCuration +NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:MappingCuration +NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:MappingCuration +NANDO:2200797 Factor B deficiency skos:exactMatch MONDO:0014255 complement factor b deficiency semapv:MappingCuration +NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:MappingCuration +NANDO:2200803 CD46 deficiency skos:exactMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:MappingCuration +NANDO:2200804 Primary CD59 deficiency skos:exactMatch MONDO:0012858 primary CD59 deficiency semapv:MappingCuration +NANDO:2200805 Hyper eosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:MappingCuration +NANDO:2200806 Hypereosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:MappingCuration +NANDO:2200807 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:MappingCuration +NANDO:2200808 Chronic active EB virus infection skos:exactMatch MONDO:0009194 immunodeficiency 32B semapv:MappingCuration +NANDO:2200809 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:MappingCuration +NANDO:2200810 HIV infection skos:exactMatch MONDO:0005109 HIV infectious disease semapv:MappingCuration +NANDO:2200812 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:MappingCuration +NANDO:2200813 Meningoencephalocele skos:exactMatch MONDO:0017079 meningoencephalocele semapv:MappingCuration +NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:MappingCuration +NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:MappingCuration +NANDO:2200815 Spinal lipoma skos:exactMatch MONDO:0001790 spinal cord lipoma semapv:MappingCuration +NANDO:2200816 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:MappingCuration +NANDO:2200817 Lissencephaly skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:MappingCuration +NANDO:2200818 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:MappingCuration +NANDO:2200819 Holoprosencephaly skos:exactMatch MONDO:0016296 holoprosencephaly semapv:MappingCuration +NANDO:2200820 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:MappingCuration +NANDO:2200821 Dandy-Walker syndrome skos:exactMatch MONDO:0009072 Dandy-Walker syndrome semapv:MappingCuration +NANDO:2200822 Congenital hydrocephalus skos:exactMatch MONDO:0016349 congenital hydrocephalus semapv:MappingCuration +NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:exactMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:MappingCuration +NANDO:2200824 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:MappingCuration +NANDO:2200825 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:MappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:MappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:MappingCuration +NANDO:2200827 Neurocutaneous melanosis skos:exactMatch MONDO:0009578 neurocutaneous melanocytosis semapv:MappingCuration +NANDO:2200828 Gorlin syndrome skos:exactMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:MappingCuration +NANDO:2200829 von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:MappingCuration +NANDO:2200830 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:MappingCuration +NANDO:2200831 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:MappingCuration +NANDO:2200832 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:MappingCuration +NANDO:2200833 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:MappingCuration +NANDO:2200834 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:MappingCuration +NANDO:2200835 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:MappingCuration +NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:MappingCuration +NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:MappingCuration +NANDO:2200838 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:MappingCuration +NANDO:2200839 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:MappingCuration +NANDO:2200840 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:MappingCuration +NANDO:2200842 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:MappingCuration +NANDO:2200843 Non-syndromic craniosynostosis skos:exactMatch MONDO:0015337 isolated craniosynostosis semapv:MappingCuration +NANDO:2200844 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:MappingCuration +NANDO:2200845 Crouzon disease skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:MappingCuration +NANDO:2200847 Carpenter syndrome skos:exactMatch MONDO:0019012 Carpenter syndrome semapv:MappingCuration +NANDO:2200848 Saethre-Chotzen syndrome skos:exactMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:MappingCuration +NANDO:2200850 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:MappingCuration +NANDO:2200851 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:MappingCuration +NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:exactMatch MONDO:0002327 intracranial cavernous angioma semapv:MappingCuration +NANDO:2200853 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:MappingCuration +NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:MappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:MappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:MappingCuration +NANDO:2200856 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:MappingCuration +NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:MappingCuration +NANDO:2200858 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:MappingCuration +NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:MappingCuration +NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:MappingCuration +NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:exactMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:MappingCuration +NANDO:2200862 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:MappingCuration +NANDO:2200864 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:MappingCuration +NANDO:2200865 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:MappingCuration +NANDO:2200866 LMNA-related congenital muscular dystrophy skos:exactMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:MappingCuration +NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:MappingCuration +NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:MappingCuration +NANDO:2200868 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:MappingCuration +NANDO:2200869 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:MappingCuration +NANDO:2200870 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:MappingCuration +NANDO:2200871 Multicore disease skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:MappingCuration +NANDO:2200875 Reducing body myopathy skos:exactMatch MONDO:0019948 reducing body myopathy semapv:MappingCuration +NANDO:2200876 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:MappingCuration +NANDO:2200877 Severe myoclonic epilepsy in infancy skos:exactMatch MONDO:0100135 Dravet syndrome semapv:MappingCuration +NANDO:2200878 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:MappingCuration +NANDO:2200879 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:MappingCuration +NANDO:2200880 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:MappingCuration +NANDO:2200881 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:MappingCuration +NANDO:2200882 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:MappingCuration +NANDO:2200883 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration +NANDO:2200884 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:MappingCuration +NANDO:2200885 Segawa syndrome skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:MappingCuration +NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:MappingCuration +NANDO:2200887 Infantile neuroaxonal dystrophy skos:exactMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:MappingCuration +NANDO:2200888 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:MappingCuration +NANDO:2200889 Congenital herpes simplex virus infection skos:exactMatch MONDO:0017381 congenital herpes simplex virus infection semapv:MappingCuration +NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0005713 obsolete MONDO:0005713 semapv:MappingCuration +NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0017361 congenital rubella syndrome semapv:MappingCuration +NANDO:2200891 Congenital cytomegalovirus infection skos:exactMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:MappingCuration +NANDO:2200892 Congenital toxoplasmosis skos:exactMatch MONDO:0005715 congenital toxoplasmosis semapv:MappingCuration +NANDO:2200893 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:MappingCuration +NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:exactMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:MappingCuration +NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:exactMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:MappingCuration +NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:exactMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:MappingCuration +NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:exactMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:MappingCuration +NANDO:2200899 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration +NANDO:2200900 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:MappingCuration +NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingCuration +NANDO:2200902 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:MappingCuration +NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:MappingCuration +NANDO:2200904 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:MappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:MappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:MappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:MappingCuration +NANDO:2200906 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:MappingCuration +NANDO:2200907 Lactose intolerance skos:exactMatch MONDO:0009116 obsolete lactose intolerance semapv:MappingCuration +NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:exactMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:MappingCuration +NANDO:2200909 Glucose-galactose malabsorption skos:exactMatch MONDO:0011731 glucose-galactose malabsorption semapv:MappingCuration +NANDO:2200910 Enterokinase deficiency skos:exactMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:MappingCuration +NANDO:2200911 Amylase deficiency skos:exactMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:MappingCuration +NANDO:2200912 Lipase deficiency skos:exactMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:MappingCuration +NANDO:2200913 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:MappingCuration +NANDO:2200914 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:MappingCuration +NANDO:2200915 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 classic familial adenomatous polyposis semapv:MappingCuration +NANDO:2200916 Juvenile polyposis skos:exactMatch MONDO:0017380 juvenile polyposis syndrome semapv:MappingCuration +NANDO:2200917 Peutz-Jeghers syndrome skos:exactMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:MappingCuration +NANDO:2200918 Cowden syndrome skos:exactMatch MONDO:0016063 Cowden disease semapv:MappingCuration +NANDO:2200919 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:MappingCuration +NANDO:2200920 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:MappingCuration +NANDO:2200921 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:MappingCuration +NANDO:2200923 Autoimmune enteropathy skos:exactMatch MONDO:0019787 autoimmune enteropathy semapv:MappingCuration +NANDO:2200924 IPEX syndrome skos:exactMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:MappingCuration +NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:MappingCuration +NANDO:2200930 biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:MappingCuration +NANDO:2200930 biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:MappingCuration +NANDO:2200931 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:MappingCuration +NANDO:2200933 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:MappingCuration +NANDO:2200934 Caroli disease skos:exactMatch MONDO:0010913 Caroli disease semapv:MappingCuration +NANDO:2200934 Caroli disease skos:exactMatch MONDO:0018808 Caroli syndrome semapv:MappingCuration +NANDO:2200936 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:MappingCuration +NANDO:2200937 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:MappingCuration +NANDO:2200941 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:MappingCuration +NANDO:2200942 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:MappingCuration +NANDO:2200943 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:MappingCuration +NANDO:2200944 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:MappingCuration +NANDO:2200945 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:MappingCuration +NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:MappingCuration +NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:MappingCuration +NANDO:2200950 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:MappingCuration +NANDO:2200951 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:MappingCuration +NANDO:2200952 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:MappingCuration +NANDO:2200953 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:MappingCuration +NANDO:2200954 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:MappingCuration +NANDO:2200955 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:MappingCuration +NANDO:2200956 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:MappingCuration +NANDO:2200957 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:MappingCuration +NANDO:2200958 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:MappingCuration +NANDO:2200959 Beckwith-Wiedemann syndrome skos:exactMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:MappingCuration +NANDO:2200960 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:MappingCuration +NANDO:2200961 5p- syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:MappingCuration +NANDO:2200962 4p- Syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:MappingCuration +NANDO:2200963 Trisomy 18 skos:exactMatch MONDO:0018071 trisomy 18 semapv:MappingCuration +NANDO:2200964 Trisomy 13 skos:exactMatch MONDO:0018068 trisomy 13 semapv:MappingCuration +NANDO:2200965 Down syndrome skos:exactMatch MONDO:0008608 Down syndrome semapv:MappingCuration +NANDO:2200967 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:MappingCuration +NANDO:2200968 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:MappingCuration +NANDO:2200969 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 Loeys-Dietz syndrome semapv:MappingCuration +NANDO:2200970 Camurati-Engelmann disease skos:exactMatch MONDO:0007542 Camurati-Engelmann disease semapv:MappingCuration +NANDO:2200971 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:MappingCuration +NANDO:2200972 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:MappingCuration +NANDO:2200973 Hallermann-Streiff syndrome skos:exactMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:MappingCuration +NANDO:2200974 Incontinentia pigmenti skos:exactMatch MONDO:0010631 incontinentia pigmenti semapv:MappingCuration +NANDO:2200975 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:MappingCuration +NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:MappingCuration +NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:MappingCuration +NANDO:2200977 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:MappingCuration +NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:exactMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:MappingCuration +NANDO:2200979 Smith-Lemli-Opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:MappingCuration +NANDO:2200980 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:MappingCuration +NANDO:2200981 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:MappingCuration +NANDO:2200982 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:MappingCuration +NANDO:2200983 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:MappingCuration +NANDO:2200984 MECP2 duplication syndrome skos:exactMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:MappingCuration +NANDO:2200985 Takenouchi-Kosaki syndrome skos:exactMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:MappingCuration +NANDO:2200986 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:MappingCuration +NANDO:2200987 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:MappingCuration +NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:MappingCuration +NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:MappingCuration +NANDO:2200990 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:MappingCuration +NANDO:2200991 Autosomal recessive congenital ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:MappingCuration +NANDO:2200992 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:MappingCuration +NANDO:2200993 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:MappingCuration +NANDO:2200994 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:MappingCuration +NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:MappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:MappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:MappingCuration +NANDO:2200998 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:MappingCuration +NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:exactMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:MappingCuration +NANDO:2201000 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:MappingCuration +NANDO:2201001 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:MappingCuration +NANDO:2201002 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:MappingCuration +NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:MappingCuration +NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0021061 neurofibromatosis semapv:MappingCuration +NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:MappingCuration +NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:MappingCuration +NANDO:2201005 Anhidrotic ectodermal dysplasia skos:exactMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:MappingCuration +NANDO:2201006 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:MappingCuration +NANDO:2201007 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:MappingCuration +NANDO:2201008 Thoracic insufficiency syndrome skos:exactMatch MONDO:0015929 thoracic malformation semapv:MappingCuration +NANDO:2201009 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:MappingCuration +NANDO:2201010 Hypochondroplasia skos:exactMatch MONDO:0007793 hypochondroplasia semapv:MappingCuration +NANDO:2201011 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:MappingCuration +NANDO:2201012 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:MappingCuration +NANDO:2201013 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:MappingCuration +NANDO:2201014 Multiple cartilaginous exostosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:MappingCuration +NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:MappingCuration +NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:MappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:MappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0016068 fibrochondrogenesis semapv:MappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0022800 type 2 collagenopathy semapv:MappingCuration +NANDO:2201017 Chondrodysplasia punctata skos:exactMatch MONDO:0019701 chondrodysplasia punctata semapv:MappingCuration +NANDO:2201018 Pseudoachondroplasia skos:exactMatch MONDO:0008322 pseudoachondroplasia semapv:MappingCuration +NANDO:2201019 Larsen syndrome skos:exactMatch MONDO:0007875 Larsen syndrome semapv:MappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:MappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:MappingCuration +NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:exactMatch MONDO:0018240 TRPV4-related bone disorder semapv:MappingCuration +NANDO:2201022 Osteosclerotic diseases skos:exactMatch MONDO:0002933 osteosclerosis semapv:MappingCuration +NANDO:2201023 Pycnodysostosis skos:exactMatch MONDO:0009940 pycnodysostosis semapv:MappingCuration +NANDO:2201024 Osteopoikilosis skos:exactMatch MONDO:0001414 osteopoikilosis semapv:MappingCuration +NANDO:2201026 Beals syndrome skos:exactMatch MONDO:0007363 congenital contractural arachnodactyly semapv:MappingCuration +NANDO:2201027 Blue rubber bleb nevus syndrome skos:exactMatch MONDO:0007203 blue rubber bleb nevus semapv:MappingCuration +NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:MappingCuration +NANDO:2201031 Primary lymphedema skos:exactMatch MONDO:0019175 primary lymphedema semapv:MappingCuration +NANDO:2201032 Lymphangioma skos:exactMatch MONDO:0002013 lymphangioma semapv:MappingCuration +NANDO:2201033 Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:MappingCuration +NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:MappingCuration +NANDO:2201035 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:MappingCuration +NANDO:2201038 Bilateral retinoblastoma skos:exactMatch MONDO:0003075 bilateral retinoblastoma semapv:MappingCuration +NANDO:2201040 Bronchomalacia skos:exactMatch MONDO:0008888 Williams-Campbell syndrome semapv:MappingCuration +NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration +NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:exactMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:MappingCuration +NANDO:2201047 Familial pulmonary arterial hypertension skos:exactMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:MappingCuration +NANDO:2201048 Secondary pulmonary arterial hypertension skos:exactMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:MappingCuration +NANDO:2201050 Familial central diabetes insipidus skos:exactMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:MappingCuration +NANDO:2201052 Multiple endocrine neoplasia type 2A skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:MappingCuration +NANDO:2201053 Multiple endocrine neoplasia type 2B skos:exactMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:MappingCuration +NANDO:2201054 Medullary thyroid carcinoma skos:exactMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:MappingCuration +NANDO:2201055 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:MappingCuration +NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:MappingCuration +NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:MappingCuration +NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:exactMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:MappingCuration +NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:exactMatch MONDO:0011849 psoriatic arthritis semapv:MappingCuration +NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:exactMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:MappingCuration +NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:MappingCuration +NANDO:2201067 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:MappingCuration +NANDO:2201068 familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:MappingCuration +NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:MappingCuration +NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:exactMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:MappingCuration +NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:exactMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:MappingCuration +NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:exactMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:MappingCuration +NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:exactMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:MappingCuration +NANDO:2201075 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:MappingCuration +NANDO:2201076 BH4 deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:MappingCuration +NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:MappingCuration +NANDO:2201078 Classic form maple syrup urine disease skos:exactMatch MONDO:0017051 classic maple syrup urine disease semapv:MappingCuration +NANDO:2201079 Intermediate maple syrup urine disease skos:exactMatch MONDO:0017052 intermediate maple syrup urine disease semapv:MappingCuration +NANDO:2201080 Intermittent maple syrup urine disease skos:exactMatch MONDO:0017053 intermittent maple syrup urine disease semapv:MappingCuration +NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:exactMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:MappingCuration +NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:MappingCuration +NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:MappingCuration +NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016601 adult-onset citrullinemia type I semapv:MappingCuration +NANDO:2201105 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:MappingCuration +NANDO:2201106 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:MappingCuration +NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:MappingCuration +NANDO:2201108 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:MappingCuration +NANDO:2201109 Methylcobalamin deficiency cblE type skos:exactMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:MappingCuration +NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:exactMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:MappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:MappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0021915 arakawa syndrome 2 semapv:MappingCuration +NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:MappingCuration +NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:MappingCuration +NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:MappingCuration +NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:MappingCuration +NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:MappingCuration +NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:MappingCuration +NANDO:2201151 Glycogen storage disease type 0a skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:MappingCuration +NANDO:2201152 Glycogen storage disease type 0b skos:exactMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:MappingCuration +NANDO:2201153 Glycogen storage disease type 1a skos:exactMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:MappingCuration +NANDO:2201154 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:MappingCuration +NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:exactMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:MappingCuration +NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:exactMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:MappingCuration +NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:exactMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:MappingCuration +NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:exactMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:MappingCuration +NANDO:2201163 Glycogen storage disease type IV, adult form skos:exactMatch MONDO:0009897 adult polyglucosan body disease semapv:MappingCuration +NANDO:2201164 Glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:MappingCuration +NANDO:2201165 Glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:MappingCuration +NANDO:2201166 Glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:MappingCuration +NANDO:2201167 Glycogen storage disease type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:MappingCuration +NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:MappingCuration +NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0011758 Hurler syndrome semapv:MappingCuration +NANDO:2201169 Scheie disease skos:exactMatch MONDO:0011760 Scheie syndrome semapv:MappingCuration +NANDO:2201170 Hurler-Scheie disease skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:MappingCuration +NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:MappingCuration +NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:MappingCuration +NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:MappingCuration +NANDO:2201174 Mucopolysaccharidosis type III A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:MappingCuration +NANDO:2201175 Mucopolysaccharidosis type III B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:MappingCuration +NANDO:2201176 Mucopolysaccharidosis type III C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:MappingCuration +NANDO:2201177 Mucopolysaccharidosis type III D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:MappingCuration +NANDO:2201178 Mucopolysaccharidosis type IV A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:MappingCuration +NANDO:2201179 Mucopolysaccharidosis type IV B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:MappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:MappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:MappingCuration +NANDO:2201189 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:MappingCuration +NANDO:2201190 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:MappingCuration +NANDO:2201191 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:MappingCuration +NANDO:2201192 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:MappingCuration +NANDO:2201193 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:MappingCuration +NANDO:2201196 GM1 gangliosidosis, infantile form skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:MappingCuration +NANDO:2201197 GM1 gangliosidosis, juvenile form skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:MappingCuration +NANDO:2201198 GM1 gangliosidosis, adult form skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:MappingCuration +NANDO:2201199 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:MappingCuration +NANDO:2201200 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:MappingCuration +NANDO:2201201 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:MappingCuration +NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:MappingCuration +NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:MappingCuration +NANDO:2201204 Metachromatic leukodystrophy, adult form skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:MappingCuration +NANDO:2201205 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:MappingCuration +NANDO:2201206 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:MappingCuration +NANDO:2201207 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:MappingCuration +NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:MappingCuration +NANDO:2201210 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:MappingCuration +NANDO:2201211 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:MappingCuration +NANDO:2201212 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:MappingCuration +NANDO:2201216 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:MappingCuration +NANDO:2201219 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:MappingCuration +NANDO:2201229 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:MappingCuration +NANDO:2201232 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:MappingCuration +NANDO:2201233 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:MappingCuration +NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:MappingCuration +NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:MappingCuration +NANDO:2201235 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:MappingCuration +NANDO:2201236 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:MappingCuration +NANDO:2201237 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:MappingCuration +NANDO:2201238 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:MappingCuration +NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:MappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:MappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:MappingCuration +NANDO:2201248 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:MappingCuration +NANDO:2201255 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:MappingCuration +NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:MappingCuration +NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:MappingCuration +NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:MappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:MappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:MappingCuration +NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingCuration +NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingCuration +NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:MappingCuration +NANDO:2201263 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:MappingCuration +NANDO:2201264 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:MappingCuration +NANDO:2201265 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:MappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:MappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:MappingCuration +NANDO:2201267 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:MappingCuration +NANDO:2201269 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:MappingCuration +NANDO:2201270 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:MappingCuration +NANDO:2201273 α-thalassemia skos:exactMatch MONDO:0011399 alpha thalassemia semapv:MappingCuration +NANDO:2201274 β-thalassemia skos:exactMatch MONDO:0019402 beta thalassemia semapv:MappingCuration +NANDO:2201275 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:MappingCuration +NANDO:2201276 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:MappingCuration +NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:MappingCuration +NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:MappingCuration +NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:MappingCuration +NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:MappingCuration +NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:MappingCuration +NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:MappingCuration +NANDO:2201288 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:MappingCuration +NANDO:2201289 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:MappingCuration +NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:MappingCuration +NANDO:2201291 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:MappingCuration +NANDO:2201292 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:MappingCuration +NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:MappingCuration +NANDO:2201294 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:MappingCuration +NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:MappingCuration +NANDO:2201296 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:MappingCuration +NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:MappingCuration +NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:MappingCuration +NANDO:2201299 AGAT deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:MappingCuration +NANDO:2201300 GAMT deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:MappingCuration +NANDO:2201301 SLC6A8 deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:MappingCuration +NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:exactMatch MONDO:0018112 isolated scaphocephaly semapv:MappingCuration +NANDO:2201305 Non-syndromic metopic craniosynostosis skos:exactMatch MONDO:0018065 isolated trigonocephaly semapv:MappingCuration +NANDO:2201317 Anti-NMDA receptor encephalitis skos:exactMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:MappingCuration +NANDO:2201319 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:MappingCuration +NANDO:2201320 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:MappingCuration +NANDO:2201321 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:MappingCuration +NANDO:2201322 Neuromyelitis optica skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:MappingCuration +NANDO:2201341 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:MappingCuration +NANDO:2201342 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:MappingCuration +NANDO:2201343 Dystrophic epidermolysis bullosa skos:exactMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:MappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008702 achondrogenesis type II semapv:MappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:MappingCuration +NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:MappingCuration +NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0019669 hypochondrogenesis semapv:MappingCuration +NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:exactMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:MappingCuration +NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:MappingCuration +NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:MappingCuration +NANDO:2201350 Kniest dysplasia skos:exactMatch MONDO:0007987 Kniest dysplasia semapv:MappingCuration +NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:exactMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:MappingCuration +NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:MappingCuration +NANDO:2201354 Stickler syndrome type 1 skos:exactMatch MONDO:0007160 Stickler syndrome type 1 semapv:MappingCuration +NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:MappingCuration +NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:MappingCuration +NANDO:2201358 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:MappingCuration +NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:MappingCuration +NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:MappingCuration +NANDO:2201361 Greenberg dysplasia skos:exactMatch MONDO:0008974 Greenberg dysplasia semapv:MappingCuration +NANDO:2201362 Astley-Kendall dysplasia skos:exactMatch MONDO:0019408 Astley-Kendall dysplasia semapv:MappingCuration +NANDO:2201364 Melorheostosis skos:exactMatch MONDO:0007970 melorheostosis semapv:MappingCuration +NANDO:2201365 Dysosteosclerosis skos:exactMatch MONDO:0009138 dysosteosclerosis semapv:MappingCuration +NANDO:2201366 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 craniometaphyseal dysplasia semapv:MappingCuration +NANDO:2201367 Metaphyseal dysplasias skos:exactMatch MONDO:0009943 Pyle disease semapv:MappingCuration +NANDO:2201368 Craniodiaphyseal dysplasia skos:exactMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:MappingCuration +NANDO:2201369 Sclerosteosis skos:exactMatch MONDO:0017838 sclerosteosis semapv:MappingCuration +NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:MappingCuration +NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:MappingCuration +NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:MappingCuration +NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:MappingCuration +NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:MappingCuration +NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:MappingCuration +NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:MappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0009326 congenital heart block semapv:MappingCuration +NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:MappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:MappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:MappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:MappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:MappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0019328 macrocystic lymphatic malformation semapv:MappingCuration +NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0007099 familial visceral amyloidosis semapv:MappingCuration +NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0007879 larynx atresia semapv:MappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005310 atrial flutter semapv:MappingCuration +NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0015446 atypical coarctation of aorta semapv:MappingCuration +NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:MappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:MappingCuration +NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:MappingCuration +NANDO:1200174 Chronic progressive external ophthalmoplegia skos:exactMatch MONDO:0005181 progressive external ophthalmoplegia semapv:MappingCuration +NANDO:1201032 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:MappingCuration +NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:MappingCuration +NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:MappingCuration +NANDO:1201035 Creatine transporter deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:MappingCuration +NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:MappingCuration +NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:MappingCuration +NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:exactMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:MappingCuration +NANDO:1201038 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:MappingCuration +NANDO:1201039 Homocystinuria type 1 skos:exactMatch MONDO:0009352 classic homocystinuria semapv:MappingCuration +NANDO:1201040 Homocystinuria type 2 skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:MappingCuration +NANDO:1201041 Homocystinuria type 3 skos:exactMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:MappingCuration +NANDO:1201042 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:MappingCuration +NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:MappingCuration +NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:MappingCuration +NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:MappingCuration +NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:MappingCuration +NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:MappingCuration +NANDO:1201048 Acquired factor X inhibitor skos:exactMatch MONDO:0021134 acquired factor X deficiency semapv:MappingCuration +NANDO:1201049 Senior-Loken syndrome skos:exactMatch MONDO:0017842 Senior-Loken syndrome semapv:MappingCuration +NANDO:1201050 COACH syndrome skos:exactMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:MappingCuration +NANDO:1201051 Oral-facial-digital syndrome skos:exactMatch MONDO:0015375 orofaciodigital syndrome semapv:MappingCuration +NANDO:1201056 End-plate acetylcholine esterase deficiency skos:exactMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:MappingCuration +NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:exactMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:MappingCuration +NANDO:1201058 RAPADILINO syndrome skos:exactMatch MONDO:0009955 rapadilino syndrome semapv:MappingCuration +NANDO:1201059 Baller-Gerold syndrome skos:exactMatch MONDO:0009039 Baller-Gerold syndrome semapv:MappingCuration +NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:MappingCuration +NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:exactMatch MONDO:0019731 AApoAI amyloidosis semapv:MappingCuration +NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:exactMatch MONDO:0007097 Finnish type amyloidosis semapv:MappingCuration +NANDO:1201064 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:MappingCuration +NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:MappingCuration +NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:MappingCuration +NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:exactMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:MappingCuration +NANDO:1201068 Agyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:MappingCuration +NANDO:1201068 Agyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:MappingCuration +NANDO:1201069 Pachygyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:MappingCuration +NANDO:1201069 Pachygyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:MappingCuration +NANDO:1201070 Subcortical band heterotopia skos:exactMatch MONDO:0020491 subcortical band heterotopia semapv:MappingCuration +NANDO:1201079 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 periventricular nodular heterotopia semapv:MappingCuration +NANDO:1201071 Polymicrogyria skos:exactMatch MONDO:0000087 polymicrogyria semapv:MappingCuration +NANDO:1201072 Cobblestone brain malformation skos:exactMatch MONDO:0018869 cobblestone lissencephaly semapv:MappingCuration +NANDO:1201073 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:MappingCuration +NANDO:1201074 Porencephaly skos:exactMatch MONDO:0017410 porencephaly semapv:MappingCuration +NANDO:1201080 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:MappingCuration +NANDO:1201081 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:MappingCuration +NANDO:1201083 Miller Dieker syndrome skos:exactMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:MappingCuration +NANDO:1201075 Pseudohypoparathyroidism type 1A skos:exactMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:MappingCuration +NANDO:1201076 Pseudohypoparathyroidism type 1B skos:exactMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:MappingCuration +NANDO:1201077 Pseudohypoparathyroidism type 1C skos:exactMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:MappingCuration +NANDO:1201078 Pseudohypoparathyroidism type 2 skos:exactMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:MappingCuration +NANDO:2201385 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:MappingCuration +NANDO:1200892 Hereditary sideroblastic anemia skos:exactMatch MONDO:0020099 inherited sideroblastic anemia semapv:MappingCuration +NANDO:1200079 Late infantile metachromatic leukodystrophy skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:MappingCuration +NANDO:1200081 Adult metachromatic leukodystrophy skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:MappingCuration +NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:MappingCuration +NANDO:1200428 Pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:MappingCuration +NANDO:1200480 Minicore myopathy skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:MappingCuration +NANDO:1200568 Focal cortical dysplasia type 2a skos:exactMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:MappingCuration +NANDO:1200569 Focal cortical dysplasia type 2b skos:exactMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:MappingCuration +NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:MappingCuration +NANDO:1200693 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:MappingCuration +NANDO:1200751 Alveolar hypoventilation syndrome skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:MappingCuration +NANDO:1200817 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:MappingCuration +NANDO:1200831 Phosphoglycerate kinase deficiency skos:exactMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:MappingCuration +NANDO:1200889 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:MappingCuration +NANDO:1200995 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:MappingCuration +NANDO:2200054 Primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:MappingCuration +NANDO:2200111 Diffuse mesangial sclerosis skos:exactMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:MappingCuration +NANDO:2200197 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:MappingCuration +NANDO:2200261 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:MappingCuration +NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:exactMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:MappingCuration +NANDO:2200355 Isolated ACTH deficiency skos:exactMatch MONDO:0008720|MONDO:0016042 semapv:MappingCuration +NANDO:2200374 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:MappingCuration +NANDO:2200384 Ovarian dysgenesis skos:exactMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:MappingCuration +NANDO:2200389 5 alpha-reductase deficiency skos:exactMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:MappingCuration +NANDO:2200425 Polyangiitis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:MappingCuration +NANDO:2200441 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:MappingCuration +NANDO:2200450 Deficiency of the enzyme ADA2 skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:MappingCuration +NANDO:2200459 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:MappingCuration +NANDO:2200603 Familial combined hyperlipidemia skos:exactMatch MONDO:0001336 familial hyperlipidemia semapv:MappingCuration +NANDO:2200610 Congenital porphyria skos:exactMatch MONDO:0019142 inherited porphyria semapv:MappingCuration +NANDO:2200613 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:MappingCuration +NANDO:2200672 Afibrinogenemia skos:exactMatch MONDO:0008737 congenital afibrinogenemia semapv:MappingCuration +NANDO:2200673 Hypoprothrombinemia skos:exactMatch MONDO:0013361 congenital prothrombin deficiency semapv:MappingCuration +NANDO:2200700 ZAP-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:MappingCuration +NANDO:2200737 STAT5b deficiency skos:exactMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:MappingCuration +NANDO:2200773 CARD9 deficiency skos:exactMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:MappingCuration +NANDO:2200788 Factor D deficiency skos:exactMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:MappingCuration +NANDO:2200790 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:MappingCuration +NANDO:2200793 MASP2 deficiency skos:exactMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:MappingCuration +NANDO:2200794 Ficolin 3 Deficiency skos:exactMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:MappingCuration +NANDO:2200798 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:MappingCuration +NANDO:2200872 Minicore myopathy skos:exactMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:MappingCuration +NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:MappingCuration +NANDO:2201268 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:MappingCuration +NANDO:2201277 Secondary aplastic anemia skos:exactMatch MONDO:0015610 acquired aplastic anemia semapv:MappingCuration +NANDO:2201351 Spondyloperipheral dysplasia skos:exactMatch MONDO:0010078 spondyloperipheral dysplasia semapv:MappingCuration From 029a1ade981e11c68aa78586f9dd8d8ab0f6fee8 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Thu, 16 May 2024 16:46:20 +0300 Subject: [PATCH 02/14] Update mondo-nando.sssom.tsv --- src/mappings/mondo-nando.sssom.tsv | 4691 ++++++++++++++-------------- 1 file changed, 2345 insertions(+), 2346 deletions(-) diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index 748aef9a..c037f184 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -10,2349 +10,2348 @@ #mapping_set_description: "This mapping set is manually curated by the NANDO team at nanbyodata.jp." #mapping_provider: "http://nanbyodata.jp" subject_id subject_label predicate_id object_id object_label mapping_justification -NANDO:1100001 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:MappingCuration -NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0004955 obsolete metabolic syndrome semapv:MappingCuration -NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0005066 metabolic disease semapv:MappingCuration -NANDO:1100004 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:MappingCuration -NANDO:1100005 Cardiovascular disease skos:exactMatch MONDO:0004995 cardiovascular disorder semapv:MappingCuration -NANDO:1100006 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:MappingCuration -NANDO:1100009 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:MappingCuration -NANDO:1100010 Respiratory disease skos:exactMatch MONDO:0005087 respiratory system disorder semapv:MappingCuration -NANDO:1100013 Gastrointestinal disease skos:exactMatch MONDO:0004335 digestive system disorder semapv:MappingCuration -NANDO:1100014 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:MappingCuration -NANDO:1100015 Otorhinolaryngological disease skos:exactMatch MONDO:0024623 otorhinolaryngologic disease semapv:MappingCuration -NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0010735 Kennedy disease semapv:MappingCuration -NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0016113 bulbospinal muscular atrophy semapv:MappingCuration -NANDO:1200002 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:MappingCuration -NANDO:1200003 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:MappingCuration -NANDO:1200004 Spinal muscular atrophy type I skos:exactMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:MappingCuration -NANDO:1200005 Spinal muscular atrophy type II skos:exactMatch MONDO:0009673 spinal muscular atrophy, type II semapv:MappingCuration -NANDO:1200006 Spinal muscular atrophy type III skos:exactMatch MONDO:0009672 spinal muscular atrophy, type III semapv:MappingCuration -NANDO:1200007 Spinal muscular atrophy type IV skos:exactMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:MappingCuration -NANDO:1200008 Primary lateral sclerosis skos:exactMatch MONDO:0018155 lateral sclerosis semapv:MappingCuration -NANDO:1200009 Progressive supranuclear palsy skos:exactMatch MONDO:0019037 progressive supranuclear palsy semapv:MappingCuration -NANDO:1200010 Parkinson's disease skos:exactMatch MONDO:0005180 Parkinson disease semapv:MappingCuration -NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022308 corticobasal degeneration disorder semapv:MappingCuration -NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022880 obsolete corticobasal degeneration semapv:MappingCuration -NANDO:1200012 Huntington's disease skos:exactMatch MONDO:0007739 Huntington disease semapv:MappingCuration -NANDO:1200013 Neuroacanthocytosis skos:exactMatch MONDO:0016987 neuroacanthocytosis semapv:MappingCuration -NANDO:1200014 Chorea-acanthocytosis skos:exactMatch MONDO:0008695 chorea-acanthocytosis semapv:MappingCuration -NANDO:1200015 McLeod syndrome skos:exactMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:MappingCuration -NANDO:1200016 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:MappingCuration -NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:exactMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:MappingCuration -NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:exactMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:MappingCuration -NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:exactMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:MappingCuration -NANDO:1200020 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:MappingCuration -NANDO:1200021 Congenital myasthenic syndrome skos:exactMatch MONDO:0018940 congenital myasthenic syndrome semapv:MappingCuration -NANDO:1200023 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:MappingCuration -NANDO:1200024 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:MappingCuration -NANDO:1200025 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:MappingCuration -NANDO:1200026 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:MappingCuration -NANDO:1200027 Neuromyelitis optica spectrum disorders skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:MappingCuration -NANDO:1200028 Baló concentric sclerosis skos:exactMatch MONDO:0016430 Balo concentric sclerosis semapv:MappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:MappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:MappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:MappingCuration -NANDO:1200031 Multifocal motor neuropathy skos:exactMatch MONDO:0018979 multifocal motor neuropathy semapv:MappingCuration -NANDO:1200032 Sporadic inclusion body myositis skos:exactMatch MONDO:0007827 inclusion body myositis semapv:MappingCuration -NANDO:1200033 Crow-Fukase syndrome skos:exactMatch MONDO:0017364 POEMS syndrome semapv:MappingCuration -NANDO:1200034 Multiple system atrophy skos:exactMatch MONDO:0007803 multiple system atrophy semapv:MappingCuration -NANDO:1200035 Multiple system atrophy, cerebellar type skos:exactMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:MappingCuration -NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:exactMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:MappingCuration -NANDO:1200037 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:MappingCuration -NANDO:1200041 Spinocerebellar ataxia type 3 skos:exactMatch MONDO:0007182 Machado-Joseph disease semapv:MappingCuration -NANDO:1200042 Spinocerebellar ataxia type 6 skos:exactMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:MappingCuration -NANDO:1200043 Dentatorubropallidoluysian atrophy skos:exactMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:MappingCuration -NANDO:1200044 Spinocerebellar ataxia type 31 skos:exactMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:MappingCuration -NANDO:1200045 Spinocerebellar ataxia type 1 skos:exactMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:MappingCuration -NANDO:1200046 Spinocerebellar ataxia type 2 skos:exactMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:MappingCuration -NANDO:1200047 Spinocerebellar ataxia type 7 skos:exactMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:MappingCuration -NANDO:1200048 Spinocerebellar ataxia type 36 skos:exactMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:MappingCuration -NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:exactMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:MappingCuration -NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:exactMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:MappingCuration -NANDO:1200052 Hereditary spastic paraplegia skos:exactMatch MONDO:0019064 hereditary spastic paraplegia semapv:MappingCuration -NANDO:1200053 Pure hereditary spastic paraplegia skos:exactMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:MappingCuration -NANDO:1200054 Complex hereditary spastic paraplegia skos:exactMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:MappingCuration -NANDO:1200055 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:MappingCuration -NANDO:1200056 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:MappingCuration -NANDO:1200057 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:MappingCuration -NANDO:1200058 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:MappingCuration -NANDO:1200059 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:MappingCuration -NANDO:1200061 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:MappingCuration -NANDO:1200062 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:MappingCuration -NANDO:1200063 Niemann-Pick disease type C skos:exactMatch MONDO:0018982 Niemann-Pick disease type C semapv:MappingCuration -NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:MappingCuration -NANDO:1200066 GM1 gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:MappingCuration -NANDO:1200067 Infantile GM1 gangliosidosis skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:MappingCuration -NANDO:1200068 Juvenile GM1 gangliosidosis skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:MappingCuration -NANDO:1200069 Adult GM1 gangliosidosis skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:MappingCuration -NANDO:1200070 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:MappingCuration -NANDO:1200071 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:MappingCuration -NANDO:1200072 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:MappingCuration -NANDO:1200073 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:MappingCuration -NANDO:1200074 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:MappingCuration -NANDO:1200075 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:MappingCuration -NANDO:1200077 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:MappingCuration -NANDO:1200078 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:MappingCuration -NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:MappingCuration -NANDO:1200082 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:MappingCuration -NANDO:1200083 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:MappingCuration -NANDO:1200086 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:MappingCuration -NANDO:1200094 Hurler syndrome skos:exactMatch MONDO:0011758 Hurler syndrome semapv:MappingCuration -NANDO:1200095 Scheie syndrome skos:exactMatch MONDO:0011760 Scheie syndrome semapv:MappingCuration -NANDO:1200096 Hurler-Scheie syndrome skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:MappingCuration -NANDO:1200097 Hunter syndrome skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:MappingCuration -NANDO:1200098 Hunter syndrome type A skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:MappingCuration -NANDO:1200099 Hunter syndrome type B skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:MappingCuration -NANDO:1200100 Sanfilippo disease skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:MappingCuration -NANDO:1200101 Sanfilippo disease type A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:MappingCuration -NANDO:1200102 Sanfilippo disease type B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:MappingCuration -NANDO:1200103 Sanfilippo disease type C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:MappingCuration -NANDO:1200104 Sanfilippo disease type D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:MappingCuration -NANDO:1200105 Morquio syndrome skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:MappingCuration -NANDO:1200106 Morquio syndrome type A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:MappingCuration -NANDO:1200107 Morquio syndrome type B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:MappingCuration -NANDO:1200108 Maroteaux-Lamy syndrome skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:MappingCuration -NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:MappingCuration -NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:MappingCuration -NANDO:1200111 Sly syndrome skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:MappingCuration -NANDO:1200115 Hyaluronidase deficiency skos:exactMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:MappingCuration -NANDO:1200116 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:MappingCuration -NANDO:1200117 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:MappingCuration -NANDO:1200118 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:MappingCuration -NANDO:1200119 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:MappingCuration -NANDO:1200120 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:MappingCuration -NANDO:1200124 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:MappingCuration -NANDO:1200125 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:MappingCuration -NANDO:1200126 Alpha-mannosidosis skos:exactMatch MONDO:0009561 alpha-mannosidosis semapv:MappingCuration -NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:MappingCuration -NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:MappingCuration -NANDO:1200128 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:MappingCuration -NANDO:1200129 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:MappingCuration -NANDO:1200130 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:MappingCuration -NANDO:1200133 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:MappingCuration -NANDO:1200134 Schindler disease skos:exactMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:MappingCuration -NANDO:1200135 Schindler disease type I skos:exactMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:MappingCuration -NANDO:1200136 Schindler disease type 2 skos:exactMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:MappingCuration -NANDO:1200137 Schindler disease type 3 skos:exactMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:MappingCuration -NANDO:1200138 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:MappingCuration -NANDO:1200139 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:MappingCuration -NANDO:1200142 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:MappingCuration -NANDO:1200143 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:MappingCuration -NANDO:1200144 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:MappingCuration -NANDO:1200145 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:MappingCuration -NANDO:1200146 Free sialic acid storage disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:MappingCuration -NANDO:1200147 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:MappingCuration -NANDO:1200148 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:MappingCuration -NANDO:1200149 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:MappingCuration -NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:MappingCuration -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:MappingCuration -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:1200157 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:MappingCuration -NANDO:1200161 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:MappingCuration -NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:MappingCuration -NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:MappingCuration -NANDO:1200163 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:MappingCuration -NANDO:1200164 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:MappingCuration -NANDO:1200165 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:MappingCuration -NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:MappingCuration -NANDO:1200168 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:MappingCuration -NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:MappingCuration -NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:MappingCuration -NANDO:1200175 Leigh's encephalomyelopathy skos:exactMatch MONDO:0009723 Leigh syndrome semapv:MappingCuration -NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:exactMatch MONDO:0010789 MELAS syndrome semapv:MappingCuration -NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:MappingCuration -NANDO:1200178 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:MappingCuration -NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100133 mitochondrial complex I deficiency semapv:MappingCuration -NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:MappingCuration -NANDO:1200181 Mitochondrial complex II deficiency skos:exactMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:MappingCuration -NANDO:1200183 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:MappingCuration -NANDO:1200186 Prion disease skos:exactMatch MONDO:0005429 prion disease semapv:MappingCuration -NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:MappingCuration -NANDO:1200188 Genetic prion diseases skos:exactMatch MONDO:0017234 inherited prion disease semapv:MappingCuration -NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:MappingCuration -NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:MappingCuration -NANDO:1200191 Fatal familial insomnia skos:exactMatch MONDO:0010808 fatal familial insomnia semapv:MappingCuration -NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:exactMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:MappingCuration -NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:MappingCuration -NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:MappingCuration -NANDO:1200195 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration -NANDO:1200196 Typical subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration -NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration -NANDO:1200205 Progressive multifocal leukoencephalopathy skos:exactMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:MappingCuration -NANDO:1200206 HTLV-1-associated myelopathy skos:exactMatch MONDO:0008039 tropical spastic paraparesis semapv:MappingCuration -NANDO:1200207 Idiopathic basal ganglia calcification skos:exactMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:MappingCuration -NANDO:1200208 Familial idiopathic basal ganglia calcification skos:exactMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:MappingCuration -NANDO:1200209 Systemic amyloidosis skos:exactMatch MONDO:0017816 primary systemic amyloidosis semapv:MappingCuration -NANDO:1200211 Amyloid light-chain amyloidosis skos:exactMatch MONDO:0019438 AL amyloidosis semapv:MappingCuration -NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:exactMatch MONDO:0018018 wild type ATTR amyloidosis semapv:MappingCuration -NANDO:1200214 Familial amyloid polyneuropathy skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:MappingCuration -NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:MappingCuration -NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:MappingCuration -NANDO:1200216 Distal myopathy skos:exactMatch MONDO:0018949 distal myopathy semapv:MappingCuration -NANDO:1200217 Miyoshi myopathy skos:exactMatch MONDO:0009685 Miyoshi myopathy semapv:MappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0007827 inclusion body myositis semapv:MappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0011603 GNE myopathy semapv:MappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:MappingCuration -NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:MappingCuration -NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 oculopharyngodistal myopathy semapv:MappingCuration -NANDO:1200220 Bethlem Myopathy skos:exactMatch MONDO:0008029 Bethlem myopathy semapv:MappingCuration -NANDO:1200222 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:MappingCuration -NANDO:1200223 X-linked Myopathy with excessive autophagy skos:exactMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:MappingCuration -NANDO:1200224 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:MappingCuration -NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:MappingCuration -NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0021061 neurofibromatosis semapv:MappingCuration -NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:MappingCuration -NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:MappingCuration -NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0007039 neurofibromatosis type 2 semapv:MappingCuration -NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:MappingCuration -NANDO:1200228 Pemphigus skos:exactMatch MONDO:0006594 pemphigus semapv:MappingCuration -NANDO:1200229 Pemphigus vulgaris skos:exactMatch MONDO:0008219 pemphigus vulgaris semapv:MappingCuration -NANDO:1200230 Pemphigus foliaceus skos:exactMatch MONDO:0019324 pemphigus foliaceus semapv:MappingCuration -NANDO:1200231 Paraneoplastic pemphigus skos:exactMatch MONDO:0018974 paraneoplastic pemphigus semapv:MappingCuration -NANDO:1200232 Pemphigus vegetans skos:exactMatch MONDO:0019322 pemphigus vegetans semapv:MappingCuration -NANDO:1200233 Pemphigus erythematosus skos:exactMatch MONDO:0019323 pemphigus erythematosus semapv:MappingCuration -NANDO:1200234 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:MappingCuration -NANDO:1200235 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:MappingCuration -NANDO:1200236 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:MappingCuration -NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:MappingCuration -NANDO:1200239 Kindler syndrome skos:exactMatch MONDO:0008260 Kindler syndrome semapv:MappingCuration -NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:MappingCuration -NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:MappingCuration -NANDO:1200243 Impetigo herpetiformis skos:exactMatch MONDO:0004591 impetigo herpetiformis semapv:MappingCuration -NANDO:1200244 Acrodermatitis continua of Hallopeau skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:MappingCuration -NANDO:1200245 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:MappingCuration -NANDO:1200246 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:MappingCuration -NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:MappingCuration -NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:MappingCuration -NANDO:1200258 Giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:MappingCuration -NANDO:1200259 Cranial giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:MappingCuration -NANDO:1200260 Large-vessel giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:MappingCuration -NANDO:1200261 Polyarteritis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:MappingCuration -NANDO:1200262 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:MappingCuration -NANDO:1200263 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:MappingCuration -NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:MappingCuration -NANDO:1200265 Rheumatoid vasculitis skos:exactMatch MONDO:0043267 rheumatoid vasculitis semapv:MappingCuration -NANDO:1200266 Buerger's disease skos:exactMatch MONDO:0008889 thromboangiitis obliterans semapv:MappingCuration -NANDO:1200267 Primary antiphospholipid antibody syndrome skos:exactMatch MONDO:0005204 primary antiphospholipid syndrome semapv:MappingCuration -NANDO:1200270 Catastrophic antiphospholipid syndrome skos:exactMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:MappingCuration -NANDO:1200271 Antiphospholipid antibody-related disease skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:MappingCuration -NANDO:1200272 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:MappingCuration -NANDO:1200274 Dermatomyositis skos:exactMatch MONDO:0016367 dermatomyositis semapv:MappingCuration -NANDO:1200275 Amyopathic dermatomyositis skos:exactMatch MONDO:0043317 amyopathic dermatomyositis semapv:MappingCuration -NANDO:1200276 Polymyositis skos:exactMatch MONDO:0019127 polymyositis semapv:MappingCuration -NANDO:1200277 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:MappingCuration -NANDO:1200278 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:MappingCuration -NANDO:1200279 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:MappingCuration -NANDO:1200280 Primary Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:MappingCuration -NANDO:1200282 Adult Still's disease skos:exactMatch MONDO:0019355 adult-onset Still disease semapv:MappingCuration -NANDO:1200283 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:MappingCuration -NANDO:1200284 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:MappingCuration -NANDO:1200286 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration -NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration -NANDO:1200292 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:MappingCuration -NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:MappingCuration -NANDO:1200294 Secondary restrictive cardiomyopathy skos:exactMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:MappingCuration -NANDO:1200295 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:MappingCuration -NANDO:1200296 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:MappingCuration -NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:MappingCuration -NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0015909 aplastic anemia semapv:MappingCuration -NANDO:1200302 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:MappingCuration -NANDO:1200303 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:MappingCuration -NANDO:1200304 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:MappingCuration -NANDO:1200305 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:MappingCuration -NANDO:1200306 Warm antibody hemolytic anemia skos:exactMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:MappingCuration -NANDO:1200307 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:MappingCuration -NANDO:1200308 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:MappingCuration -NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:exactMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:MappingCuration -NANDO:1200310 Evans syndrome skos:exactMatch MONDO:0016030 Evans syndrome semapv:MappingCuration -NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:MappingCuration -NANDO:1200315 Idiopathic thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:MappingCuration -NANDO:1200316 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:MappingCuration -NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:MappingCuration -NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:MappingCuration -NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:MappingCuration -NANDO:1200320 Primary immunodeficiency syndrome skos:exactMatch MONDO:0003778 inborn error of immunity semapv:MappingCuration -NANDO:1200321 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:MappingCuration -NANDO:1200322 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:MappingCuration -NANDO:1200323 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:MappingCuration -NANDO:1200324 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:MappingCuration -NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:MappingCuration -NANDO:1200326 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:MappingCuration -NANDO:1200327 Zap-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:MappingCuration -NANDO:1200328 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:MappingCuration -NANDO:1200329 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:MappingCuration -NANDO:1200330 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:MappingCuration -NANDO:1200331 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:MappingCuration -NANDO:1200332 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:MappingCuration -NANDO:1200333 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:MappingCuration -NANDO:1200334 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:MappingCuration -NANDO:1200336 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:MappingCuration -NANDO:1200337 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:MappingCuration -NANDO:1200338 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:MappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:MappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:MappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:MappingCuration -NANDO:1200340 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:MappingCuration -NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:MappingCuration -NANDO:1200342 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:MappingCuration -NANDO:1200343 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:MappingCuration -NANDO:1200344 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:MappingCuration -NANDO:1200345 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:MappingCuration -NANDO:1200346 IgG subclass deficiency skos:exactMatch MONDO:0045045 selective IgG immunodeficiency semapv:MappingCuration -NANDO:1200347 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:MappingCuration -NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:MappingCuration -NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:MappingCuration -NANDO:1200350 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:MappingCuration -NANDO:1200351 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:MappingCuration -NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:MappingCuration -NANDO:1200353 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:MappingCuration -NANDO:1200354 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:MappingCuration -NANDO:1200355 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:MappingCuration -NANDO:1200356 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:MappingCuration -NANDO:1200357 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:MappingCuration -NANDO:1200358 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:MappingCuration -NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:MappingCuration -NANDO:1200361 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:MappingCuration -NANDO:1200362 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:MappingCuration -NANDO:1200363 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:MappingCuration -NANDO:1200364 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:MappingCuration -NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:MappingCuration -NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:MappingCuration -NANDO:1200366 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:MappingCuration -NANDO:1200367 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:MappingCuration -NANDO:1200368 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:MappingCuration -NANDO:1200369 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:MappingCuration -NANDO:1200371 Ossification of posterior longitudinal ligament skos:exactMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:MappingCuration -NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:exactMatch MONDO:0005965 spinal stenosis semapv:MappingCuration -NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:exactMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:MappingCuration -NANDO:1200375 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:MappingCuration -NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:MappingCuration -NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:exactMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:MappingCuration -NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:exactMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:MappingCuration -NANDO:1200379 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:MappingCuration -NANDO:1200381 Central precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:MappingCuration -NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:exactMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:MappingCuration -NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:exactMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:MappingCuration -NANDO:1200385 Growth hormone secreting pituitary adenoma skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:MappingCuration -NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:MappingCuration -NANDO:1200387 Hypopituitarism syndrome skos:exactMatch MONDO:0005152 hypopituitarism semapv:MappingCuration -NANDO:1200388 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:MappingCuration -NANDO:1200390 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:MappingCuration -NANDO:1200394 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:MappingCuration -NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:MappingCuration -NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:MappingCuration -NANDO:1200396 Congenital adrenal enzyme deficiency skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:MappingCuration -NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:MappingCuration -NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:MappingCuration -NANDO:1200399 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:MappingCuration -NANDO:1200400 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:MappingCuration -NANDO:1200401 17-α-Hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:MappingCuration -NANDO:1200402 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:MappingCuration -NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:MappingCuration -NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration -NANDO:1200404 DAX1 abnormality skos:exactMatch MONDO:0010226 46,XY sex reversal 2 semapv:MappingCuration -NANDO:1200405 SF-1 abnormality skos:exactMatch MONDO:0013066 46,XY sex reversal 3 semapv:MappingCuration -NANDO:1200406 IMAge syndrome skos:exactMatch MONDO:0013873 IMAGe syndrome semapv:MappingCuration -NANDO:1200408 MC2R deficiency skos:exactMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:MappingCuration -NANDO:1200409 MRAP deficiency skos:exactMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:MappingCuration -NANDO:1200410 Allgrove syndrome skos:exactMatch MONDO:0009279 triple-A syndrome semapv:MappingCuration -NANDO:1200411 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:MappingCuration -NANDO:1200411 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:MappingCuration -NANDO:1200412 Autoimmune Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:MappingCuration -NANDO:1200415 Sarcoidosis skos:exactMatch MONDO:0019338 sarcoidosis semapv:MappingCuration -NANDO:1200416 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:MappingCuration -NANDO:1200417 Idiopathic pulmonary fibrosis skos:exactMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:MappingCuration -NANDO:1200419 Non-specific interstitial pneumonia skos:exactMatch MONDO:0019622 non-specific interstitial pneumonia semapv:MappingCuration -NANDO:1200420 Acute interstitial pneumonia skos:exactMatch MONDO:0019203 acute interstitial pneumonia semapv:MappingCuration -NANDO:1200421 Cryptogenic organizing pneumonia skos:exactMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:MappingCuration -NANDO:1200422 Desquamative interstitial pneumonia skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:MappingCuration -NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:MappingCuration -NANDO:1200424 Lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:MappingCuration -NANDO:1200425 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:MappingCuration -NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:MappingCuration -NANDO:1200427 Pulmonary veno-occlusive disease skos:exactMatch MONDO:0009937 pulmonary venoocclusive disease semapv:MappingCuration -NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:exactMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:MappingCuration -NANDO:1200430 Lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 lymphangioleiomyomatosis semapv:MappingCuration -NANDO:1200431 Retinitis pigmentosa skos:exactMatch MONDO:0019200 retinitis pigmentosa semapv:MappingCuration -NANDO:1200437 Budd-Chiari syndrome skos:exactMatch MONDO:0010947 Budd-Chiari syndrome semapv:MappingCuration -NANDO:1200438 Idiopathic portal hypertension skos:exactMatch MONDO:0021969 Banti syndrome semapv:MappingCuration -NANDO:1200439 Primary biliary cholangitis skos:exactMatch MONDO:0005388 primary biliary cholangitis semapv:MappingCuration -NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:MappingCuration -NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:MappingCuration -NANDO:1200441 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:MappingCuration -NANDO:1200442 Typical autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:MappingCuration -NANDO:1200444 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:MappingCuration -NANDO:1200445 small bowel Crohn disease skos:exactMatch MONDO:0005539 small bowel Crohn disease semapv:MappingCuration -NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:MappingCuration -NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005532 Crohn's colitis semapv:MappingCuration -NANDO:1200447 Crohn ileocolitis skos:exactMatch MONDO:0005534 ileocolitis semapv:MappingCuration -NANDO:1200449 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:MappingCuration -NANDO:1200450 Pan-ulcerative colitis skos:exactMatch MONDO:0005536 pancolitis semapv:MappingCuration -NANDO:1200451 Left-sided colitis skos:exactMatch MONDO:0005533 distal colitis semapv:MappingCuration -NANDO:1200454 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:MappingCuration -NANDO:1200456 Eosinophilic esophagitis skos:exactMatch MONDO:0005361 eosinophilic esophagitis semapv:MappingCuration -NANDO:1200457 Eosinophilic gastroenteritis skos:exactMatch MONDO:0016129 eosinophilic gastroenteritis semapv:MappingCuration -NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:MappingCuration -NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingCuration -NANDO:1200460 Congenital isolated hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:MappingCuration -NANDO:1200461 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:MappingCuration -NANDO:1200462 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:MappingCuration -NANDO:1200463 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:MappingCuration -NANDO:1200464 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:MappingCuration -NANDO:1200465 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:MappingCuration -NANDO:1200466 Familial cold autoinflammatorysyndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:MappingCuration -NANDO:1200467 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:MappingCuration -NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:MappingCuration -NANDO:1200469 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:MappingCuration -NANDO:1200470 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:MappingCuration -NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:MappingCuration -NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:MappingCuration -NANDO:1200473 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:MappingCuration -NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:MappingCuration -NANDO:1200476 Blau syndrome skos:exactMatch MONDO:0008523 Blau syndrome semapv:MappingCuration -NANDO:1200477 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:MappingCuration -NANDO:1200478 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:MappingCuration -NANDO:1200479 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:MappingCuration -NANDO:1200481 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:MappingCuration -NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:MappingCuration -NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:MappingCuration -NANDO:1200483 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:MappingCuration -NANDO:1200485 Marinesco-Sjogren syndrome skos:exactMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:MappingCuration -NANDO:1200486 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:MappingCuration -NANDO:1200487 Dystrophinopathies skos:exactMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:MappingCuration -NANDO:1200488 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:MappingCuration -NANDO:1200489 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:MappingCuration -NANDO:1200490 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:MappingCuration -NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:MappingCuration -NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:MappingCuration -NANDO:1200493 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:MappingCuration -NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:MappingCuration -NANDO:1200495 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:MappingCuration -NANDO:1200496 Non-dystrophic myotonia skos:exactMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:MappingCuration -NANDO:1200497 Myotonia congenita skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:MappingCuration -NANDO:1200498 Thomsen disease skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:MappingCuration -NANDO:1200499 Becker disease skos:exactMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:MappingCuration -NANDO:1200500 Sodium channel myotonia skos:exactMatch MONDO:0018959 potassium-aggravated myotonia semapv:MappingCuration -NANDO:1200501 Paramyotonia congenita skos:exactMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:MappingCuration -NANDO:1200502 Hereditary periodic paralysis skos:exactMatch MONDO:0000995 familial periodic paralysis semapv:MappingCuration -NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:exactMatch MONDO:0008223 hypokalemic periodic paralysis semapv:MappingCuration -NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:exactMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:MappingCuration -NANDO:1200506 Syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:MappingCuration -NANDO:1200507 Symptomatic syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:MappingCuration -NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:MappingCuration -NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:MappingCuration -NANDO:1200510 Isaacs syndrome skos:exactMatch MONDO:0019399 Isaac syndrome semapv:MappingCuration -NANDO:1200511 Hereditary dystonia skos:exactMatch MONDO:0044807 inherited dystonia semapv:MappingCuration -NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:MappingCuration -NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0044808 obsolete early onset primary dystonia semapv:MappingCuration -NANDO:1200513 Dystonia 2 skos:exactMatch MONDO:0009141 torsion dystonia 2 semapv:MappingCuration -NANDO:1200514 Dystonia 3 skos:exactMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:MappingCuration -NANDO:1200515 Dystonia 4 skos:exactMatch MONDO:0007493 torsion dystonia 4 semapv:MappingCuration -NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0007495 dystonia 5 semapv:MappingCuration -NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:MappingCuration -NANDO:1200517 Dystonia 6 skos:exactMatch MONDO:0011264 torsion dystonia 6 semapv:MappingCuration -NANDO:1200518 Dystonia 7 skos:exactMatch MONDO:0011200 torsion dystonia 7 semapv:MappingCuration -NANDO:1200519 Dystonia 8 skos:exactMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:MappingCuration -NANDO:1200520 Dystonia 9 skos:exactMatch MONDO:0010983 dystonia 9 semapv:MappingCuration -NANDO:1200521 Dystonia 10 skos:exactMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:MappingCuration -NANDO:1200522 Dystonia 11 skos:exactMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:MappingCuration -NANDO:1200523 Dystonia 12 skos:exactMatch MONDO:0007496 dystonia 12 semapv:MappingCuration -NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:exactMatch MONDO:0007496 dystonia 12 semapv:MappingCuration -NANDO:1200525 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration -NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:exactMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:MappingCuration -NANDO:1200527 Dystonia 13 skos:exactMatch MONDO:0011886 torsion dystonia 13 semapv:MappingCuration -NANDO:1200528 Dystonia 15 skos:exactMatch MONDO:0011844 myoclonic dystonia 15 semapv:MappingCuration -NANDO:1200529 Dystonia 16 skos:exactMatch MONDO:0012789 dystonia 16 semapv:MappingCuration -NANDO:1200530 Dystonia 17 skos:exactMatch MONDO:0012895 torsion dystonia 17 semapv:MappingCuration -NANDO:1200531 Dystonia 18 skos:exactMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:MappingCuration -NANDO:1200532 Dystonia 19 skos:exactMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:MappingCuration -NANDO:1200533 Dystonia 20 skos:exactMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:MappingCuration -NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:MappingCuration -NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:MappingCuration -NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:MappingCuration -NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:exactMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:MappingCuration -NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:exactMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:MappingCuration -NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:MappingCuration -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:MappingCuration -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:MappingCuration -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:MappingCuration -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:MappingCuration -NANDO:1200542 Neuroferritinopathy skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:MappingCuration -NANDO:1200543 Superficial siderosis skos:exactMatch MONDO:0016594 superficial siderosis semapv:MappingCuration -NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0010829 CARASIL syndrome semapv:MappingCuration -NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:exactMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:MappingCuration -NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:exactMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:MappingCuration -NANDO:1200547 Perry syndrome skos:exactMatch MONDO:0008201 Perry syndrome semapv:MappingCuration -NANDO:1200548 Frontotemporal lobar degeneration skos:exactMatch MONDO:0017276 frontotemporal dementia semapv:MappingCuration -NANDO:1200549 Behavioral variant frontotemporal dementia skos:exactMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:MappingCuration -NANDO:1200550 Semantic dementia skos:exactMatch MONDO:0010857 semantic dementia semapv:MappingCuration -NANDO:1200551 Bickerstaff's brainstem encephalitis skos:exactMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:MappingCuration -NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingCuration -NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:MappingCuration -NANDO:1200554 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:MappingCuration -NANDO:1200555 Alexander disease type I skos:exactMatch MONDO:0018209 Alexander disease type I semapv:MappingCuration -NANDO:1200556 Alexander disease type II skos:exactMatch MONDO:0018210 Alexander disease type II semapv:MappingCuration -NANDO:1200558 Congenital suprabulbar paresis skos:exactMatch MONDO:0008503 Worster-Drought syndrome semapv:MappingCuration -NANDO:1200559 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:MappingCuration -NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:MappingCuration -NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:MappingCuration -NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:MappingCuration -NANDO:1200562 Aicardi syndrome skos:exactMatch MONDO:0010568 Aicardi syndrome semapv:MappingCuration -NANDO:1200563 Hemimegalencephaly skos:exactMatch MONDO:0020492 hemimegalencephaly semapv:MappingCuration -NANDO:1200564 Focal cortical dysplasia skos:exactMatch MONDO:0019009 isolated focal cortical dysplasia semapv:MappingCuration -NANDO:1200565 Focal cortical dysplasia type 1a skos:exactMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:MappingCuration -NANDO:1200566 Focal cortical dysplasia type 1b skos:exactMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:MappingCuration -NANDO:1200567 Focal cortical dysplasia type 1c skos:exactMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:MappingCuration -NANDO:1200574 Neuronal migration defects skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:MappingCuration -NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:MappingCuration -NANDO:1200576 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:MappingCuration -NANDO:1200577 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:MappingCuration -NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:MappingCuration -NANDO:1200579 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:MappingCuration -NANDO:1200580 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:MappingCuration -NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:MappingCuration -NANDO:1200582 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:MappingCuration -NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:MappingCuration -NANDO:1200584 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:MappingCuration -NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:MappingCuration -NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:MappingCuration -NANDO:1200587 Dravet syndrome skos:exactMatch MONDO:0100135 Dravet syndrome semapv:MappingCuration -NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:exactMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:MappingCuration -NANDO:1200589 Myoclonic absence epilepsy skos:exactMatch MONDO:0019487 epilepsy with myoclonic absences semapv:MappingCuration -NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:exactMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:MappingCuration -NANDO:1200591 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:MappingCuration -NANDO:1200592 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:MappingCuration -NANDO:1200593 Ohtahara syndrome skos:exactMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:MappingCuration -NANDO:1200594 Early myoclonic encephalopathy skos:exactMatch MONDO:0016022 early myoclonic encephalopathy semapv:MappingCuration -NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:MappingCuration -NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:MappingCuration -NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:exactMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:MappingCuration -NANDO:1200597 Ring chromosome 20 syndrome skos:exactMatch MONDO:0015436 ring chromosome 20 semapv:MappingCuration -NANDO:1200598 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:MappingCuration -NANDO:1200599 PCDH19-related syndrome skos:exactMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:MappingCuration -NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:MappingCuration -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0019123 continuous spikes and waves during sleep semapv:MappingCuration -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:MappingCuration -NANDO:1200602 Landau-Kleffner syndrome skos:exactMatch MONDO:0009509 Landau-Kleffner syndrome semapv:MappingCuration -NANDO:1200603 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:MappingCuration -NANDO:1200604 Typical Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:MappingCuration -NANDO:1200605 Atypical Rett syndrome skos:exactMatch MONDO:0017746 atypical Rett syndrome semapv:MappingCuration -NANDO:1200606 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:MappingCuration -NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:MappingCuration -NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:MappingCuration -NANDO:1200608 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:MappingCuration -NANDO:1200609 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:MappingCuration -NANDO:1200610 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:MappingCuration -NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:MappingCuration -NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:MappingCuration -NANDO:1200613 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:MappingCuration -NANDO:1200614 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:MappingCuration -NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:MappingCuration -NANDO:1200616 Congenital ichthyosiform erythroderma skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:MappingCuration -NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0017778 lamellar ichthyosis semapv:MappingCuration -NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:MappingCuration -NANDO:1200618 Ichthyosis syndrome skos:exactMatch MONDO:0019269 ichthyosis semapv:MappingCuration -NANDO:1200619 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:MappingCuration -NANDO:1200620 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:MappingCuration -NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:MappingCuration -NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:MappingCuration -NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:MappingCuration -NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:MappingCuration -NANDO:1200624 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:MappingCuration -NANDO:1200625 Recessive X-linked ichtyosis skos:exactMatch MONDO:0010622 recessive X-linked ichthyosis semapv:MappingCuration -NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:exactMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:MappingCuration -NANDO:1200627 Trichothiodystrophy skos:exactMatch MONDO:0018053 trichothiodystrophy semapv:MappingCuration -NANDO:1200628 Ichthyosis follicularis skos:exactMatch MONDO:0043094 ichthyosis, follicular semapv:MappingCuration -NANDO:1200629 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:MappingCuration -NANDO:1200630 Conradi Hünermann Happle syndrome skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:MappingCuration -NANDO:1200631 Benign familial pemphigus skos:exactMatch MONDO:0008218 Hailey-Hailey disease semapv:MappingCuration -NANDO:1200633 Bullous pemphigoid skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:MappingCuration -NANDO:1200634 Mucous membrane pemphigoid skos:exactMatch MONDO:0018746 mucous membrane pemphigoid semapv:MappingCuration -NANDO:1200635 Epidermolysis bullosa acquisita skos:exactMatch MONDO:0018747 acquired epidermolysis bullosa semapv:MappingCuration -NANDO:1200637 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:MappingCuration -NANDO:1200638 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:MappingCuration -NANDO:1200639 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:MappingCuration -NANDO:1200640 Griscelli syndrome skos:exactMatch MONDO:0018306 Griscelli syndrome semapv:MappingCuration -NANDO:1200641 Non-syndromic oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:MappingCuration -NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:MappingCuration -NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:MappingCuration -NANDO:1200643 Pseudoxanthoma elasticum skos:exactMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:MappingCuration -NANDO:1200644 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:MappingCuration -NANDO:1200645 Ehlers-Danlos Syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:MappingCuration -NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:MappingCuration -NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:MappingCuration -NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:MappingCuration -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:MappingCuration -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:MappingCuration -NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingCuration -NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingCuration -NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:MappingCuration -NANDO:1200653 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:MappingCuration -NANDO:1200654 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:MappingCuration -NANDO:1200655 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:MappingCuration -NANDO:1200656 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:MappingCuration -NANDO:1200657 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:MappingCuration -NANDO:1200658 Nasu-Hakola disease skos:exactMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:MappingCuration -NANDO:1200659 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:MappingCuration -NANDO:1200660 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:MappingCuration -NANDO:1200661 Joubert syndrome and related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:MappingCuration -NANDO:1200662 Arima syndrome skos:exactMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:MappingCuration -NANDO:1200663 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:MappingCuration -NANDO:1200664 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:MappingCuration -NANDO:1200665 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:MappingCuration -NANDO:1200666 Crouzon's syndrome skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:MappingCuration -NANDO:1200667 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:MappingCuration -NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:MappingCuration -NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:MappingCuration -NANDO:1200669 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:MappingCuration -NANDO:1200670 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:MappingCuration -NANDO:1200671 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:MappingCuration -NANDO:1200672 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:MappingCuration -NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0007029 branchio-oto-renal syndrome semapv:MappingCuration -NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0018878 branchiootic syndrome semapv:MappingCuration -NANDO:1200676 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:MappingCuration -NANDO:1200677 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:MappingCuration -NANDO:1200678 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:MappingCuration -NANDO:1200679 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:MappingCuration -NANDO:1200680 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:MappingCuration -NANDO:1200681 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:MappingCuration -NANDO:1200682 1p36 deletion syndrome skos:exactMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:MappingCuration -NANDO:1200683 4p deletion syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:MappingCuration -NANDO:1200684 5p deletion syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:MappingCuration -NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:exactMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:MappingCuration -NANDO:1200686 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:MappingCuration -NANDO:1200687 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:MappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:MappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:MappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:MappingCuration -NANDO:1200689 Emanuel syndrome skos:exactMatch MONDO:0012176 Emanuel syndrome semapv:MappingCuration -NANDO:1200690 Fragile X syndrome related diseases skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:MappingCuration -NANDO:1200691 Fragile X tremor/ataxia syndrome skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:MappingCuration -NANDO:1200692 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:MappingCuration -NANDO:1200698 Corrected transposition of great arteries skos:exactMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:MappingCuration -NANDO:1200699 Complete transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration -NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration -NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration -NANDO:1200704 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:MappingCuration -NANDO:1200705 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:MappingCuration -NANDO:1200706 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:MappingCuration -NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:MappingCuration -NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:MappingCuration -NANDO:1200709 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:MappingCuration -NANDO:1200710 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:MappingCuration -NANDO:1200711 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:MappingCuration -NANDO:1200712 Alport's syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:MappingCuration -NANDO:1200713 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:MappingCuration -NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:MappingCuration -NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:MappingCuration -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:MappingCuration -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:MappingCuration -NANDO:1200718 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:MappingCuration -NANDO:1200719 Primary nephrotic syndrome skos:exactMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:MappingCuration -NANDO:1200720 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:MappingCuration -NANDO:1200721 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:MappingCuration -NANDO:1200722 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:MappingCuration -NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:MappingCuration -NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:MappingCuration -NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:MappingCuration -NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:MappingCuration -NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:MappingCuration -NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:exactMatch MONDO:0019736 dense deposit disease semapv:MappingCuration -NANDO:1200741 Henoch-Schonlein purpura nephritis skos:exactMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:MappingCuration -NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:MappingCuration -NANDO:1200743 Interstitial cystitis (Hunner type) skos:exactMatch MONDO:0018301 interstitial cystitis semapv:MappingCuration -NANDO:1200744 Osler disease skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:MappingCuration -NANDO:1200745 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:MappingCuration -NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:MappingCuration -NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:MappingCuration -NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:MappingCuration -NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:MappingCuration -NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:exactMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:MappingCuration -NANDO:1200750 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:MappingCuration -NANDO:1200752 Obesity hypoventilation syndrome skos:exactMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:MappingCuration -NANDO:1200753 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:MappingCuration -NANDO:1200755 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:MappingCuration -NANDO:1200756 Carney complex skos:exactMatch MONDO:0015285 Carney complex semapv:MappingCuration -NANDO:1200757 Wolfram syndrome skos:exactMatch MONDO:0018105 Wolfram syndrome semapv:MappingCuration -NANDO:1200758 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:MappingCuration -NANDO:1200759 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:MappingCuration -NANDO:1200760 Zellweger syndrome skos:exactMatch MONDO:0019609 Zellweger spectrum disorders semapv:MappingCuration -NANDO:1200761 Neonatal adrenoleukodystrophy skos:exactMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:MappingCuration -NANDO:1200762 Infantile Refsum disease skos:exactMatch MONDO:0019174 obsolete infantile Refsum disease semapv:MappingCuration -NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:MappingCuration -NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:exactMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:MappingCuration -NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:MappingCuration -NANDO:1200766 D-bifunctional protein deficiency skos:exactMatch MONDO:0009855 d-bifunctional protein deficiency semapv:MappingCuration -NANDO:1200767 Sterol carrier protein 2 deficiency skos:exactMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:MappingCuration -NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:exactMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:MappingCuration -NANDO:1200769 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:MappingCuration -NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:exactMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:MappingCuration -NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:MappingCuration -NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:MappingCuration -NANDO:1200773 Primary hyperoxaluria type 1 skos:exactMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:MappingCuration -NANDO:1200774 Acatalasemia skos:exactMatch MONDO:0013571 acatalasia semapv:MappingCuration -NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:MappingCuration -NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:MappingCuration -NANDO:1200776 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:MappingCuration -NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:MappingCuration -NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:MappingCuration -NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:MappingCuration -NANDO:1200780 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:MappingCuration -NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:MappingCuration -NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:exactMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:MappingCuration -NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:exactMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:MappingCuration -NANDO:1200784 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:MappingCuration -NANDO:1200785 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:MappingCuration -NANDO:1200786 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:MappingCuration -NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:MappingCuration -NANDO:1200788 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:MappingCuration -NANDO:1200789 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:MappingCuration -NANDO:1200790 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:MappingCuration -NANDO:1200791 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:MappingCuration -NANDO:1200792 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:MappingCuration -NANDO:1200793 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:MappingCuration -NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:exactMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:MappingCuration -NANDO:1200795 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:MappingCuration -NANDO:1200796 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:MappingCuration -NANDO:1200797 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:MappingCuration -NANDO:1200798 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:MappingCuration -NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:MappingCuration -NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:MappingCuration -NANDO:1200800 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:MappingCuration -NANDO:1200801 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:MappingCuration -NANDO:1200802 Urea cycle disorder skos:exactMatch MONDO:0004739 urea cycle disorder semapv:MappingCuration -NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:MappingCuration -NANDO:1200804 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:MappingCuration -NANDO:1200805 Classic citrullinemia skos:exactMatch MONDO:0008988 citrullinemia type I semapv:MappingCuration -NANDO:1200806 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:MappingCuration -NANDO:1200807 Argininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:MappingCuration -NANDO:1200808 NAGS deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:MappingCuration -NANDO:1200809 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:MappingCuration -NANDO:1200810 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:MappingCuration -NANDO:1200811 Porphyria skos:exactMatch MONDO:0037939 porphyria semapv:MappingCuration -NANDO:1200812 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:MappingCuration -NANDO:1200813 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:MappingCuration -NANDO:1200814 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:MappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:MappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:MappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:MappingCuration -NANDO:1200816 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:MappingCuration -NANDO:1200818 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:MappingCuration -NANDO:1200819 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:MappingCuration -NANDO:1200820 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:MappingCuration -NANDO:1200821 Holocarboxylase synthetase deficiency skos:exactMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:MappingCuration -NANDO:1200822 Biotinidase deficiency skos:exactMatch MONDO:0009665 biotinidase deficiency semapv:MappingCuration -NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:MappingCuration -NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0016118 obsolete muscular glycogenosis semapv:MappingCuration -NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:MappingCuration -NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:MappingCuration -NANDO:1200825 Glycogen storage diseases type II skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:MappingCuration -NANDO:1200826 Glycogen storage diseases type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:MappingCuration -NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0008222 Andersen-Tawil syndrome semapv:MappingCuration -NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:MappingCuration -NANDO:1200828 Glycogen storage diseases type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:MappingCuration -NANDO:1200829 Glycogen storage diseases type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:MappingCuration -NANDO:1200830 Glycogen storage diseases type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:MappingCuration -NANDO:1200832 Glycogen storage diseases type X skos:exactMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:MappingCuration -NANDO:1200833 Glycogen storage diseases type XI skos:exactMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:MappingCuration -NANDO:1200834 Glycogen storage diseases type XII skos:exactMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:MappingCuration -NANDO:1200835 Glycogen storage diseases type XIII skos:exactMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:MappingCuration -NANDO:1200836 Glycogen storage diseases type XIV skos:exactMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:MappingCuration -NANDO:1200837 Glycogen storage diseases type XV skos:exactMatch MONDO:0013291 glycogen storage disease XV semapv:MappingCuration -NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0002412 disorder of glycogen metabolism semapv:MappingCuration -NANDO:1200840 Hepatic glycogen storage disease type Ia skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:MappingCuration -NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:MappingCuration -NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:MappingCuration -NANDO:1200844 Hepatic GSD type IIIc skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:MappingCuration -NANDO:1200846 Hepatic glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:MappingCuration -NANDO:1200847 Hepatic glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:MappingCuration -NANDO:1200848 Hepatic glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:MappingCuration -NANDO:1200849 Hepatic glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:MappingCuration -NANDO:1200850 Hepatic glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:MappingCuration -NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:MappingCuration -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0009515 Norum disease semapv:MappingCuration -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0018999 LCAT deficiency semapv:MappingCuration -NANDO:1200853 Sitosterolemia skos:exactMatch MONDO:0008863 sitosterolemia semapv:MappingCuration -NANDO:1200854 Tangier disease skos:exactMatch MONDO:0008783 Tangier disease semapv:MappingCuration -NANDO:1200856 Cerebrotendinous xanthomatosis skos:exactMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:MappingCuration -NANDO:1200857 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:MappingCuration -NANDO:1200858 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:MappingCuration -NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0006536 congenital generalized lipodystrophy semapv:MappingCuration -NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:MappingCuration -NANDO:1200860 Acquired generalized lipodystrophy skos:exactMatch MONDO:0019193 acquired generalized lipodystrophy semapv:MappingCuration -NANDO:1200861 Familial partial lipodystrophy skos:exactMatch MONDO:0020088 familial partial lipodystrophy semapv:MappingCuration -NANDO:1200862 Acquired partial lipodystrophy skos:exactMatch MONDO:0012104 acquired partial lipodystrophy semapv:MappingCuration -NANDO:1200863 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:MappingCuration -NANDO:1200864 Typical familial Mediterranean fever skos:exactMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:MappingCuration -NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:MappingCuration -NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0012481 mevalonic aciduria semapv:MappingCuration -NANDO:1200867 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:MappingCuration -NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:MappingCuration -NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:MappingCuration -NANDO:1200870 Ankylosing spondylitis skos:exactMatch MONDO:0005306 ankylosing spondylitis semapv:MappingCuration -NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:MappingCuration -NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:MappingCuration -NANDO:1200873 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:MappingCuration -NANDO:1200874 Thanatophoric dysplasia skos:exactMatch MONDO:0017042 thanatophoric dysplasia semapv:MappingCuration -NANDO:1200875 Thanatophoric dysplasia type 1 skos:exactMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:MappingCuration -NANDO:1200876 Thanatophoric dysplasia type 2 skos:exactMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:MappingCuration -NANDO:1200877 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:MappingCuration -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:MappingCuration -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:MappingCuration -NANDO:1200879 obsolete Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:MappingCuration -NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:MappingCuration -NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:MappingCuration -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:MappingCuration -NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:MappingCuration -NANDO:1200885 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:MappingCuration -NANDO:1200886 Congenital dyserythropoietic anemia type I skos:exactMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:MappingCuration -NANDO:1200887 Congenital dyserythropoietic anemia type II skos:exactMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:MappingCuration -NANDO:1200888 Congenital dyserythropoietic anemia type III skos:exactMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:MappingCuration -NANDO:1200890 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:MappingCuration -NANDO:1200891 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:MappingCuration -NANDO:1200893 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:MappingCuration -NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:exactMatch MONDO:0020599 acquired coagulation factor deficiency semapv:MappingCuration -NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:exactMatch MONDO:0021133 acquired factor XIII deficiency semapv:MappingCuration -NANDO:1200898 Acquired hemophilia A skos:exactMatch MONDO:0019139 acquired hemophilia semapv:MappingCuration -NANDO:1200899 Acquired von Willebrand disease skos:exactMatch MONDO:0020460 acquired von willebrand syndrome semapv:MappingCuration -NANDO:1200901 Cronkhite-Canada syndrome skos:exactMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:MappingCuration -NANDO:1200903 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:MappingCuration -NANDO:1200909 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:MappingCuration -NANDO:1200910 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:MappingCuration -NANDO:1200911 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:MappingCuration -NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:MappingCuration -NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:MappingCuration -NANDO:1200918 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:MappingCuration -NANDO:1200919 Typical Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:MappingCuration -NANDO:1200921 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:MappingCuration -NANDO:1200922 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:MappingCuration -NANDO:1200923 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:MappingCuration -NANDO:1200924 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:MappingCuration -NANDO:1200925 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:MappingCuration -NANDO:1200928 IgG4-related sclerosing cholangitis skos:exactMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:MappingCuration -NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:MappingCuration -NANDO:1200930 IgG4-related kidney disease skos:exactMatch MONDO:0018671 IgG4-related kidney disease semapv:MappingCuration -NANDO:1200931 Macular dystrophy skos:exactMatch MONDO:0020242 hereditary macular dystrophy semapv:MappingCuration -NANDO:1200932 Vitelliform macular dystrophy skos:exactMatch MONDO:0000390 vitelliform macular dystrophy semapv:MappingCuration -NANDO:1200933 Stargardt disease skos:exactMatch MONDO:0019353 Stargardt disease semapv:MappingCuration -NANDO:1200934 Occult macular dystrophy skos:exactMatch MONDO:0013316 occult macular dystrophy semapv:MappingCuration -NANDO:1200936 Cone dystrophy skos:exactMatch MONDO:0000455 cone dystrophy semapv:MappingCuration -NANDO:1200937 Cone-rod dystrophy skos:exactMatch MONDO:0015993 cone-rod dystrophy semapv:MappingCuration -NANDO:1200938 X-linked juvenile retinoschisis skos:exactMatch MONDO:0010725 X-linked retinoschisis semapv:MappingCuration -NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0004890 partial central choroid dystrophy semapv:MappingCuration -NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0008982 central areolar choroidal dystrophy semapv:MappingCuration -NANDO:1200940 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:MappingCuration -NANDO:1200941 Usher syndrome skos:exactMatch MONDO:0019501 Usher syndrome semapv:MappingCuration -NANDO:1200942 Usher syndrome type I skos:exactMatch MONDO:0010168 Usher syndrome type 1 semapv:MappingCuration -NANDO:1200943 Usher syndrome Type II skos:exactMatch MONDO:0016484 Usher syndrome type 2 semapv:MappingCuration -NANDO:1200944 Usher syndrome Type III skos:exactMatch MONDO:0016485 Usher syndrome type 3 semapv:MappingCuration -NANDO:1200948 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:MappingCuration -NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:MappingCuration -NANDO:1200951 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:MappingCuration -NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:MappingCuration -NANDO:1200953 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:MappingCuration -NANDO:1200954 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:MappingCuration -NANDO:1200955 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:MappingCuration -NANDO:1200956 Benign adult familial myoclonus epilepsy skos:exactMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:MappingCuration -NANDO:1200957 Congenital anomalies syndrome skos:exactMatch MONDO:0000839 obsolete congenital abnormality semapv:MappingCuration -NANDO:1200958 Partial trisomy 1q skos:exactMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:MappingCuration -NANDO:1200959 9q34 deletion syndrome skos:exactMatch MONDO:0012455 Kleefstra syndrome semapv:MappingCuration -NANDO:1200960 Cornelia de lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:MappingCuration -NANDO:1200961 Smith-lemli-opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:MappingCuration -NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0011514 tricuspid atresia semapv:MappingCuration -NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0019813 congenital tricuspid stenosis semapv:MappingCuration -NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:MappingCuration -NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0020398 congenital mitral stenosis semapv:MappingCuration -NANDO:1200964 Congenital pulmonary vein stenosis skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:MappingCuration -NANDO:1200967 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:MappingCuration -NANDO:1200969 Carnitine cycle disorders skos:exactMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:MappingCuration -NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:MappingCuration -NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:MappingCuration -NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:MappingCuration -NANDO:1200973 Systemic primary carnitine deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:MappingCuration -NANDO:1200974 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:MappingCuration -NANDO:1200978 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:MappingCuration -NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:exactMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:MappingCuration -NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:MappingCuration -NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0016603 citrullinemia type II semapv:MappingCuration -NANDO:1200982 Sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:MappingCuration -NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:exactMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:MappingCuration -NANDO:1200984 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:MappingCuration -NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:exactMatch MONDO:0017353 neonatal glycine encephalopathy semapv:MappingCuration -NANDO:1200986 Infantile nonketotic hyperglycinemia skos:exactMatch MONDO:0017354 infantile glycine encephalopathy semapv:MappingCuration -NANDO:1200987 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:MappingCuration -NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:MappingCuration -NANDO:1200989 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:MappingCuration -NANDO:1200990 3-methylglutaconic aciduria type I skos:exactMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:MappingCuration -NANDO:1200991 3-methylglutaconicaciduria type II skos:exactMatch MONDO:0010543 Barth syndrome semapv:MappingCuration -NANDO:1200992 3-methylglutaconic aciduria type III skos:exactMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:MappingCuration -NANDO:1200994 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:MappingCuration -NANDO:1200996 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:MappingCuration -NANDO:1200997 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:MappingCuration -NANDO:1200998 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:MappingCuration -NANDO:1201000 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 anterior segment dysgenesis semapv:MappingCuration -NANDO:1201001 Aniridia skos:exactMatch MONDO:0019172 aniridia semapv:MappingCuration -NANDO:1201003 Congenital tracheal stenosis skos:exactMatch MONDO:0011340 congenital tracheal stenosis semapv:MappingCuration -NANDO:1201004 Congenital subglottic stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:MappingCuration -NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:exactMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:MappingCuration -NANDO:1201007 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:MappingCuration -NANDO:1201009 Systemic granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:MappingCuration -NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:exactMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:MappingCuration -NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:MappingCuration -NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0019563 CREST syndrome semapv:MappingCuration -NANDO:1201018 Hepatic glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:MappingCuration -NANDO:1201019 Hepatic glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:MappingCuration -NANDO:1201020 Hepatic glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:MappingCuration -NANDO:1201021 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:MappingCuration -NANDO:1201029 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:MappingCuration -NANDO:2100002 Leukemia skos:exactMatch MONDO:0004355 childhood leukemia semapv:MappingCuration -NANDO:2100002 Leukemia skos:exactMatch MONDO:0005059 leukemia semapv:MappingCuration -NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:MappingCuration -NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:MappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003659 pediatric lymphoma semapv:MappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003660 adult lymphoma semapv:MappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0005062 lymphoma semapv:MappingCuration -NANDO:2100005 Histiocytosis skos:exactMatch MONDO:0002637 histiocytosis semapv:MappingCuration -NANDO:2100007 Central nervous system tumors skos:exactMatch MONDO:0002714 central nervous system cancer semapv:MappingCuration -NANDO:2100008 Chronic kidney disease skos:exactMatch MONDO:0005300 chronic kidney disease semapv:MappingCuration -NANDO:2100009 Nephrotic syndrome skos:exactMatch MONDO:0005377 nephrotic syndrome semapv:MappingCuration -NANDO:2100012 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:MappingCuration -NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:MappingCuration -NANDO:2100015 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:MappingCuration -NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:MappingCuration -NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:MappingCuration -NANDO:2100019 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:MappingCuration -NANDO:2100020 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:MappingCuration -NANDO:2100021 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:MappingCuration -NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0005300 chronic kidney disease semapv:MappingCuration -NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0024327 chronic renal failure syndrome semapv:MappingCuration -NANDO:2100027 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:MappingCuration -NANDO:2100028 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:MappingCuration -NANDO:2100031 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:MappingCuration -NANDO:2100032 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:MappingCuration -NANDO:2100034 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:MappingCuration -NANDO:2100035 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:MappingCuration -NANDO:2100036 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:MappingCuration -NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:MappingCuration -NANDO:2100039 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:MappingCuration -NANDO:2100040 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:MappingCuration -NANDO:2100043 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:MappingCuration -NANDO:2100044 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:MappingCuration -NANDO:2100046 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:MappingCuration -NANDO:2100049 Ventricular tachycardia skos:exactMatch MONDO:0005477 ventricular tachycardia semapv:MappingCuration -NANDO:2100050 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:MappingCuration -NANDO:2100051 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:MappingCuration -NANDO:2100052 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:MappingCuration -NANDO:2100053 Long QT syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:MappingCuration -NANDO:2100054 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration -NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:MappingCuration -NANDO:2100057 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:MappingCuration -NANDO:2100058 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:MappingCuration -NANDO:2100060 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:MappingCuration -NANDO:2100061 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:MappingCuration -NANDO:2100064 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:MappingCuration -NANDO:2100070 Ischemic heart disease skos:exactMatch MONDO:0024644 myocardial ischemia semapv:MappingCuration -NANDO:2100071 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:MappingCuration -NANDO:2100073 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:MappingCuration -NANDO:2100075 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:MappingCuration -NANDO:2100076 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:MappingCuration -NANDO:2100077 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:MappingCuration -NANDO:2100079 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration -NANDO:2100080 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:MappingCuration -NANDO:2100082 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:MappingCuration -NANDO:2100083 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:MappingCuration -NANDO:2100084 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:MappingCuration -NANDO:2100085 Atrial septal defect skos:exactMatch MONDO:0006664 atrial septal defect semapv:MappingCuration -NANDO:2100086 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:MappingCuration -NANDO:2100087 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:MappingCuration -NANDO:2100090 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:MappingCuration -NANDO:2100092 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:MappingCuration -NANDO:2100093 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:MappingCuration -NANDO:2100095 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:MappingCuration -NANDO:2100098 Aortic stenosis skos:exactMatch MONDO:0004978 obsolete aortic stenosis semapv:MappingCuration -NANDO:2100101 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:MappingCuration -NANDO:2100103 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:MappingCuration -NANDO:2100105 Valvular heart disease skos:exactMatch MONDO:0002869 heart valve disorder semapv:MappingCuration -NANDO:2100109 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:MappingCuration -NANDO:2100110 Hypopituitarism skos:exactMatch MONDO:0005152 hypopituitarism semapv:MappingCuration -NANDO:2100111 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:MappingCuration -NANDO:2100112 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:MappingCuration -NANDO:2100114 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:MappingCuration -NANDO:2100115 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:MappingCuration -NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:MappingCuration -NANDO:2100117 Diabetes insipidus skos:exactMatch MONDO:0004782 diabetes insipidus semapv:MappingCuration -NANDO:2100119 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:MappingCuration -NANDO:2100120 Hypothyroidism skos:exactMatch MONDO:0005420 hypothyroidism semapv:MappingCuration -NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:MappingCuration -NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:MappingCuration -NANDO:2100123 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:MappingCuration -NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:MappingCuration -NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:MappingCuration -NANDO:2100125 Autoimmune polyendocrinopathy skos:exactMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:MappingCuration -NANDO:2100126 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:MappingCuration -NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:MappingCuration -NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:MappingCuration -NANDO:2100131 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:MappingCuration -NANDO:2100132 Hypoaldosteronism skos:exactMatch MONDO:0015900 hypoaldosteronism disease semapv:MappingCuration -NANDO:2100133 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:MappingCuration -NANDO:2100134 Congenital adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:MappingCuration -NANDO:2100135 Precocious puberty skos:exactMatch MONDO:0000088 precocious puberty semapv:MappingCuration -NANDO:2100138 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:MappingCuration -NANDO:2100139 Hypergonadotropic hypogonadism skos:exactMatch MONDO:0005387 primary ovarian failure semapv:MappingCuration -NANDO:2100140 Disorders of sex development skos:exactMatch MONDO:0002145 disorder of sexual differentiation semapv:MappingCuration -NANDO:2100142 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:MappingCuration -NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:MappingCuration -NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:MappingCuration -NANDO:2100144 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:MappingCuration -NANDO:2100147 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:MappingCuration -NANDO:2100148 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 multiple endocrine neoplasia semapv:MappingCuration -NANDO:2100149 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:MappingCuration -NANDO:2100151 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:MappingCuration -NANDO:2100152 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:MappingCuration -NANDO:2100154 Relapsing Polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:MappingCuration -NANDO:2100156 Autoinflammatory disease skos:exactMatch MONDO:0019751 autoinflammatory syndrome semapv:MappingCuration -NANDO:2100157 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:MappingCuration -NANDO:2100158 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:MappingCuration -NANDO:2100159 Inborn errors of metabolism skos:exactMatch MONDO:0019052 inborn errors of metabolism semapv:MappingCuration -NANDO:2100160 Disorder of amino acid metabolism skos:exactMatch MONDO:0037871 amino acid metabolism disease semapv:MappingCuration -NANDO:2100161 Disorder of organic acid metabolism skos:exactMatch MONDO:0045022 disorder of organic acid metabolism semapv:MappingCuration -NANDO:2100162 Disorder of fatty-acid metabolism skos:exactMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:MappingCuration -NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:MappingCuration -NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:MappingCuration -NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:MappingCuration -NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0037792 carbohydrate metabolism disease semapv:MappingCuration -NANDO:2100165 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:MappingCuration -NANDO:2100166 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:MappingCuration -NANDO:2100172 Connective tissue disorder skos:exactMatch MONDO:0003900 connective tissue disorder semapv:MappingCuration -NANDO:2100174 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:MappingCuration -NANDO:2100175 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:MappingCuration -NANDO:2100176 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:MappingCuration -NANDO:2100177 Pure red cell aplasia skos:exactMatch MONDO:0001705 pure red-cell aplasia semapv:MappingCuration -NANDO:2100178 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:MappingCuration -NANDO:2100179 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:MappingCuration -NANDO:2100180 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:MappingCuration -NANDO:2100181 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:MappingCuration -NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:MappingCuration -NANDO:2100183 Hereditary hemolytic anemia skos:exactMatch MONDO:0003689 familial hemolytic anemia semapv:MappingCuration -NANDO:2100186 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:MappingCuration -NANDO:2100187 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:MappingCuration -NANDO:2100188 Thrombocytopenic purpura skos:exactMatch MONDO:0043768 thrombocytopenic purpura semapv:MappingCuration -NANDO:2100189 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:MappingCuration -NANDO:2100192 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:MappingCuration -NANDO:2100193 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:MappingCuration -NANDO:2100194 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:MappingCuration -NANDO:2100197 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:MappingCuration -NANDO:2100198 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:MappingCuration -NANDO:2100200 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:MappingCuration -NANDO:2100201 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:MappingCuration -NANDO:2100202 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:MappingCuration -NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0015131 combined immunodeficiency semapv:MappingCuration -NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:MappingCuration -NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0003778 inborn error of immunity semapv:MappingCuration -NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0021094 immunodeficiency disease semapv:MappingCuration -NANDO:2100212 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:MappingCuration -NANDO:2100213 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:MappingCuration -NANDO:2100214 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:MappingCuration -NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:MappingCuration -NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:MappingCuration -NANDO:2100216 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:MappingCuration -NANDO:2100217 Brain malformation skos:exactMatch MONDO:0016054 cerebral malformation semapv:MappingCuration -NANDO:2100218 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:MappingCuration -NANDO:2100219 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:MappingCuration -NANDO:2100220 Neurocutaneous syndrome skos:exactMatch MONDO:0042983 neurocutaneous syndrome semapv:MappingCuration -NANDO:2100221 Progeroid syndromes skos:exactMatch MONDO:0015333 progeroid syndrome semapv:MappingCuration -NANDO:2100223 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:MappingCuration -NANDO:2100224 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:MappingCuration -NANDO:2100226 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:MappingCuration -NANDO:2100227 Craniosynostosis skos:exactMatch MONDO:0015469 craniosynostosis semapv:MappingCuration -NANDO:2100228 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:MappingCuration -NANDO:2100229 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:MappingCuration -NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:MappingCuration -NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0019079 proximal spinal muscular atrophy semapv:MappingCuration -NANDO:2100233 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:MappingCuration -NANDO:2100234 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:MappingCuration -NANDO:2100235 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:MappingCuration -NANDO:2100237 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:MappingCuration -NANDO:2100238 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:MappingCuration -NANDO:2100239 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration -NANDO:2100240 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:MappingCuration -NANDO:2100241 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:MappingCuration -NANDO:2100242 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:MappingCuration -NANDO:2100244 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:MappingCuration -NANDO:2100245 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration -NANDO:2100246 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:MappingCuration -NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingCuration -NANDO:2100248 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:MappingCuration -NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:MappingCuration -NANDO:2100250 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:MappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:MappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:MappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:MappingCuration -NANDO:2100252 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:MappingCuration -NANDO:2100255 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:MappingCuration -NANDO:2100256 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:MappingCuration -NANDO:2100257 Polyposis skos:exactMatch MONDO:0000147 polyposis semapv:MappingCuration -NANDO:2100258 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:MappingCuration -NANDO:2100259 Inflammatory bowel disease skos:exactMatch MONDO:0005265 inflammatory bowel disease semapv:MappingCuration -NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:MappingCuration -NANDO:2100264 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:MappingCuration -NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:MappingCuration -NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:MappingCuration -NANDO:2100267 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:MappingCuration -NANDO:2100268 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:MappingCuration -NANDO:2100272 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:MappingCuration -NANDO:2100274 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:MappingCuration -NANDO:2100279 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:MappingCuration -NANDO:2100280 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:MappingCuration -NANDO:2100281 Skin disease skos:exactMatch MONDO:0005093 skin disorder semapv:MappingCuration -NANDO:2100283 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:MappingCuration -NANDO:2100284 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:MappingCuration -NANDO:2100285 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:MappingCuration -NANDO:2100286 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:MappingCuration -NANDO:2100287 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:MappingCuration -NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:MappingCuration -NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:MappingCuration -NANDO:2100290 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:MappingCuration -NANDO:2100291 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:MappingCuration -NANDO:2100293 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:MappingCuration -NANDO:2100294 Vascular disease skos:exactMatch MONDO:0005385 vascular disorder semapv:MappingCuration -NANDO:2100295 Vascular malformation skos:exactMatch MONDO:0024291 vascular malformation semapv:MappingCuration -NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:MappingCuration -NANDO:2100297 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:MappingCuration -NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:MappingCuration -NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:exactMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:MappingCuration -NANDO:2200003 T-cell lymphoblastic leukemia skos:exactMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:MappingCuration -NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:exactMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:MappingCuration -NANDO:2200005 Acute myeloid leukemia without maturation skos:exactMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:MappingCuration -NANDO:2200006 Acute myeloid leukemia with maturation skos:exactMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:MappingCuration -NANDO:2200007 Acute promyelocytic leukemia skos:exactMatch MONDO:0012883 acute promyelocytic leukemia semapv:MappingCuration -NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:MappingCuration -NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:MappingCuration -NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:MappingCuration -NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:MappingCuration -NANDO:2200010 Acute erythremia skos:exactMatch MONDO:0017858 acute erythroid leukemia semapv:MappingCuration -NANDO:2200011 Acute megakaryoblastic leukemia skos:exactMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:MappingCuration -NANDO:2200012 NK cell leukemia skos:exactMatch MONDO:0019470 aggressive NK-cell leukemia semapv:MappingCuration -NANDO:2200013 Chronic myeloid leukemia skos:exactMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:MappingCuration -NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:MappingCuration -NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:MappingCuration -NANDO:2200015 Juvenile myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:MappingCuration -NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:MappingCuration -NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0020321 acute undifferentiated leukemia semapv:MappingCuration -NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:MappingCuration -NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0020743 mixed phenotype acute leukemia semapv:MappingCuration -NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:MappingCuration -NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:MappingCuration -NANDO:2200020 Mature B-cell lymphoma skos:exactMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:MappingCuration -NANDO:2200021 Anaplastic large cell lymphoma skos:exactMatch MONDO:0020325 anaplastic large cell lymphoma semapv:MappingCuration -NANDO:2200022 Precursor B lymphoblastic lymphoma skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:MappingCuration -NANDO:2200023 Precursor T lymphoblastic lymphoma skos:exactMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:MappingCuration -NANDO:2200024 Hodgkin lymphoma skos:exactMatch MONDO:0004952 Hodgkins lymphoma semapv:MappingCuration -NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:exactMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:MappingCuration -NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:exactMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:MappingCuration -NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:exactMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:MappingCuration -NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:exactMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:MappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:MappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:MappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0018310 Langerhans cell histiocytosis semapv:MappingCuration -NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:exactMatch MONDO:0015540 hemophagocytic syndrome semapv:MappingCuration -NANDO:2200034 Follicular dendritic cell sarcoma skos:exactMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:MappingCuration -NANDO:2200035 Interdigitating dendritic cell sarcoma skos:exactMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:MappingCuration -NANDO:2200036 Langerhans cell sarcoma skos:exactMatch MONDO:0019480 Langerhans cell sarcoma semapv:MappingCuration -NANDO:2200037 Juvenile xanthogranuloma skos:exactMatch MONDO:0015534 juvenile xanthogranuloma semapv:MappingCuration -NANDO:2200038 Erdheim-Chester disease skos:exactMatch MONDO:0018153 Erdheim-Chester disease semapv:MappingCuration -NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:MappingCuration -NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:MappingCuration -NANDO:2200040 Neuroblastoma skos:exactMatch MONDO:0005072 neuroblastoma semapv:MappingCuration -NANDO:2200041 Ganglioneuroblastoma skos:exactMatch MONDO:0005035 ganglioneuroblastoma semapv:MappingCuration -NANDO:2200042 Retinoblastoma skos:exactMatch MONDO:0008380 retinoblastoma semapv:MappingCuration -NANDO:2200043 Wilms tumour skos:exactMatch MONDO:0019004 kidney Wilms tumor semapv:MappingCuration -NANDO:2200044 Clear cell sarcoma of the kidney skos:exactMatch MONDO:0005006 clear cell sarcoma of kidney semapv:MappingCuration -NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005086 renal cell carcinoma semapv:MappingCuration -NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005549 renal cell adenocarcinoma semapv:MappingCuration -NANDO:2200046 Hepatoblastoma skos:exactMatch MONDO:0018666 hepatoblastoma semapv:MappingCuration -NANDO:2200047 Hepatocellular carcinoma skos:exactMatch MONDO:0007256 hepatocellular carcinoma semapv:MappingCuration -NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0002623 pediatric osteosarcoma semapv:MappingCuration -NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0009807 osteosarcoma semapv:MappingCuration -NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:MappingCuration -NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:MappingCuration -NANDO:2200050 Chondrosarcoma skos:exactMatch MONDO:0008977 chondrosarcoma semapv:MappingCuration -NANDO:2200051 Chondroblastoma skos:exactMatch MONDO:0004997 chondroblastoma semapv:MappingCuration -NANDO:2200052 Malignancy in giant cell tumour of bone skos:exactMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:MappingCuration -NANDO:2200053 Ewing's sarcoma skos:exactMatch MONDO:0012817 Ewing sarcoma semapv:MappingCuration -NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:MappingCuration -NANDO:2200056 Rhabdomyosarcoma skos:exactMatch MONDO:0005212 rhabdomyosarcoma semapv:MappingCuration -NANDO:2200057 Malignant rhabdoid tumour skos:exactMatch MONDO:0002728 rhabdoid tumor semapv:MappingCuration -NANDO:2200058 Undifferentiated sarcoma skos:exactMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:MappingCuration -NANDO:2200059 Desmoplastic small round cell tumors skos:exactMatch MONDO:0019373 desmoplastic small round cell tumor semapv:MappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002676 adult fibrosarcoma semapv:MappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002678 pediatric fibrosarcoma semapv:MappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0005164 fibrosarcoma semapv:MappingCuration -NANDO:2200061 Synovial sarcoma skos:exactMatch MONDO:0010434 synovial sarcoma semapv:MappingCuration -NANDO:2200062 Clear cell sarcoma skos:exactMatch MONDO:0002926 clear cell sarcoma semapv:MappingCuration -NANDO:2200063 Alveolar soft part sarcoma skos:exactMatch MONDO:0011655 alveolar soft part sarcoma semapv:MappingCuration -NANDO:2200064 Leiomyosarcoma skos:exactMatch MONDO:0005058 leiomyosarcoma semapv:MappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003585 adult liposarcoma semapv:MappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003587 pediatric liposarcoma semapv:MappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0005060 liposarcoma semapv:MappingCuration -NANDO:2200066 Dysgerminoma skos:exactMatch MONDO:0003002 dysgerminoma semapv:MappingCuration -NANDO:2200067 Embryonal carcinoma skos:exactMatch MONDO:0005440 embryonal carcinoma semapv:MappingCuration -NANDO:2200068 Polyembryoma skos:exactMatch MONDO:0015863 polyembryoma semapv:MappingCuration -NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0005744 yolk sac tumor semapv:MappingCuration -NANDO:2200070 Choriocarcinoma skos:exactMatch MONDO:0005207 choriocarcinoma semapv:MappingCuration -NANDO:2200071 Mixed germ cell tumour skos:exactMatch MONDO:0015864 mixed germ cell tumor semapv:MappingCuration -NANDO:2200072 Sex-cord stromal tumour skos:exactMatch MONDO:0006055 sex cord-stromal tumor semapv:MappingCuration -NANDO:2200073 Adrenocortical carcinoma skos:exactMatch MONDO:0006639 adrenal cortex carcinoma semapv:MappingCuration -NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0002108 thyroid cancer semapv:MappingCuration -NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0015075 thyroid gland carcinoma semapv:MappingCuration -NANDO:2200076 Salivary grand carcinoma skos:exactMatch MONDO:0000521 salivary gland carcinoma semapv:MappingCuration -NANDO:2200077 Malignant melanoma skos:exactMatch MONDO:0005105 melanoma semapv:MappingCuration -NANDO:2200078 Pheochromocytoma skos:exactMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:MappingCuration -NANDO:2200079 Malignant thymoma skos:exactMatch MONDO:0006451 thymic carcinoma semapv:MappingCuration -NANDO:2200080 Pleuropulmonaryblastoma skos:exactMatch MONDO:0011014 pleuropulmonary blastoma semapv:MappingCuration -NANDO:2200081 Bronchial tumour skos:exactMatch MONDO:0002807 bronchial neoplasm semapv:MappingCuration -NANDO:2200082 Pancreatoblastoma skos:exactMatch MONDO:0019035 pancreatoblastoma semapv:MappingCuration -NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:MappingCuration -NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0016691 pilocytic astrocytoma semapv:MappingCuration -NANDO:2200085 Diffuse astrocytoma skos:exactMatch MONDO:0016686 diffuse astrocytoma semapv:MappingCuration -NANDO:2200086 Anaplastic astrocytoma skos:exactMatch MONDO:0016684 anaplastic astrocytoma semapv:MappingCuration -NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0018177 glioblastoma semapv:MappingCuration -NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0020690 adult glioblastoma semapv:MappingCuration -NANDO:2200088 Ependymoma skos:exactMatch MONDO:0016698 ependymoma semapv:MappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002540 childhood oligodendroglioma semapv:MappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002543 adult oligodendroglioma semapv:MappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0016695 oligodendroglioma semapv:MappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002794 adult medulloblastoma semapv:MappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002797 childhood medulloblastoma semapv:MappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0007959 medulloblastoma semapv:MappingCuration -NANDO:2200091 Craniopharyngioma skos:exactMatch MONDO:0018907 craniopharyngioma semapv:MappingCuration -NANDO:2200092 Pineocytoma skos:exactMatch MONDO:0016723 pineocytoma semapv:MappingCuration -NANDO:2200093 Choroid plexus papilloma skos:exactMatch MONDO:0009837 choroid plexus papilloma semapv:MappingCuration -NANDO:2200094 Meningioma skos:exactMatch MONDO:0003057 pediatric meningioma semapv:MappingCuration -NANDO:2200094 Meningioma skos:exactMatch MONDO:0016642 meningioma semapv:MappingCuration -NANDO:2200095 Pituitary adenoma skos:exactMatch MONDO:0006373 pituitary gland adenoma semapv:MappingCuration -NANDO:2200096 Ganglioglioma skos:exactMatch MONDO:0016733 ganglioglioma semapv:MappingCuration -NANDO:2200097 Gangliocytoma skos:exactMatch MONDO:0016730 gangliocytoma semapv:MappingCuration -NANDO:2200098 Chordoma skos:exactMatch MONDO:0008978 chordoma semapv:MappingCuration -NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:MappingCuration -NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:MappingCuration -NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:exactMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:MappingCuration -NANDO:2200102 Malignant neurinoma skos:exactMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:MappingCuration -NANDO:2200103 Neurinoma skos:exactMatch MONDO:0002546 schwannoma semapv:MappingCuration -NANDO:2200104 Teratoma of the central nervous system skos:exactMatch MONDO:0002718 central nervous system teratoma semapv:MappingCuration -NANDO:2200105 Mature teratoma skos:exactMatch MONDO:0003517 mature teratoma semapv:MappingCuration -NANDO:2200106 Immature teratoma skos:exactMatch MONDO:0024746 immature teratoma semapv:MappingCuration -NANDO:2200107 Teratoma with malignant transformation skos:exactMatch MONDO:0006444 teratoma with malignant transformation semapv:MappingCuration -NANDO:2200108 Intracranial germ cell tumour skos:exactMatch MONDO:0004218 childhood germ cell brain tumor semapv:MappingCuration -NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:exactMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:MappingCuration -NANDO:2200112 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:MappingCuration -NANDO:2200113 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:MappingCuration -NANDO:2200114 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:MappingCuration -NANDO:2200116 Denys-Drash syndrome skos:exactMatch MONDO:0008682 Denys-Drash syndrome semapv:MappingCuration -NANDO:2200117 Pierson syndrome skos:exactMatch MONDO:0012184 Pierson syndrome semapv:MappingCuration -NANDO:2200118 Central nervous system malformation syndrome skos:exactMatch MONDO:0020022 central nervous system malformation semapv:MappingCuration -NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:MappingCuration -NANDO:2200120 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:MappingCuration -NANDO:2200121 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:MappingCuration -NANDO:2200122 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:MappingCuration -NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:MappingCuration -NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:MappingCuration -NANDO:2200125 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:MappingCuration -NANDO:2200126 Alport syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:MappingCuration -NANDO:2200127 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:MappingCuration -NANDO:2200128 Lupus nephritis skos:exactMatch MONDO:0005556 lupus nephritis semapv:MappingCuration -NANDO:2200131 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:MappingCuration -NANDO:2200132 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:MappingCuration -NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:exactMatch MONDO:0007671 fibronectin glomerulopathy semapv:MappingCuration -NANDO:2200134 Lipoprotein glomerulopathy skos:exactMatch MONDO:0012725 lipoprotein glomerulopathy semapv:MappingCuration -NANDO:2200136 Tubulointerstitial nephritis skos:exactMatch MONDO:0001085 interstitial nephritis semapv:MappingCuration -NANDO:2200137 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:MappingCuration -NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0019065 amyloidosis semapv:MappingCuration -NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:MappingCuration -NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:MappingCuration -NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:MappingCuration -NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:MappingCuration -NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:MappingCuration -NANDO:2200144 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:MappingCuration -NANDO:2200145 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:MappingCuration -NANDO:2200146 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:MappingCuration -NANDO:2200152 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:MappingCuration -NANDO:2200153 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:MappingCuration -NANDO:2200154 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:MappingCuration -NANDO:2200155 Hypoplastic kidney skos:exactMatch MONDO:0019637 renal hypoplasia semapv:MappingCuration -NANDO:2200156 Renal aplasia skos:exactMatch MONDO:0018470 renal agenesis semapv:MappingCuration -NANDO:2200157 Potter syndrome skos:exactMatch MONDO:0001558 Potter sequence semapv:MappingCuration -NANDO:2200158 Multicystic dysplastic kidney skos:exactMatch MONDO:0015988 multicystic dysplastic kidney semapv:MappingCuration -NANDO:2200159 Oligomeganephronia skos:exactMatch MONDO:0016407 oligomeganephronia semapv:MappingCuration -NANDO:2200161 Renal dysplasia skos:exactMatch MONDO:0019638 renal dysplasia semapv:MappingCuration -NANDO:2200170 Medullary cystic kidney skos:exactMatch MONDO:0019005 nephronophthisis semapv:MappingCuration -NANDO:2200171 Multilocular cysts of the kidney skos:exactMatch MONDO:0019983 multiloculated renal cyst semapv:MappingCuration -NANDO:2200172 Simple renal cyst skos:exactMatch MONDO:0002473 cystic kidney disease semapv:MappingCuration -NANDO:2200173 Medullary sponge kidney skos:exactMatch MONDO:0015268 medullary sponge kidney semapv:MappingCuration -NANDO:2200176 Ureteropelvic junction obstruction skos:exactMatch MONDO:0007741 congenital hydronephrosis semapv:MappingCuration -NANDO:2200177 Megacalycosis skos:exactMatch MONDO:0019639 congenital megacalycosis semapv:MappingCuration -NANDO:2200178 Obstructive uropathy skos:exactMatch MONDO:0003330 urinary tract obstruction semapv:MappingCuration -NANDO:2200179 Vesicoureteral reflux skos:exactMatch MONDO:0006007 vesicoureteral reflux semapv:MappingCuration -NANDO:2200183 Ureteroceles skos:exactMatch MONDO:0008628 ureterocele semapv:MappingCuration -NANDO:2200184 Megaureter skos:exactMatch MONDO:0018960 congenital primary megaureter semapv:MappingCuration -NANDO:2200185 Prune belly syndrome skos:exactMatch MONDO:0007032 prune belly syndrome semapv:MappingCuration -NANDO:2200187 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:MappingCuration -NANDO:2200188 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:MappingCuration -NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:MappingCuration -NANDO:2200194 Tracheal stenosis skos:exactMatch MONDO:0002568 tracheal stenosis semapv:MappingCuration -NANDO:2200195 Tracheomalacia skos:exactMatch MONDO:0019804 tracheomalacia semapv:MappingCuration -NANDO:2200198 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:MappingCuration -NANDO:2200199 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:MappingCuration -NANDO:2200200 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:MappingCuration -NANDO:2200202 Pulmonary alveolar microlithiasis skos:exactMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:MappingCuration -NANDO:2200203 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:MappingCuration -NANDO:2200204 Kartagener syndrome skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:MappingCuration -NANDO:2200205 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:MappingCuration -NANDO:2200206 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:MappingCuration -NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:MappingCuration -NANDO:2200209 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:MappingCuration -NANDO:2200210 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:MappingCuration -NANDO:2200212 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:MappingCuration -NANDO:2200213 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:MappingCuration -NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0000468 third-degree atrioventricular block semapv:MappingCuration -NANDO:2200215 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:MappingCuration -NANDO:2200216 Polymorphic ventricular premature beat skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:MappingCuration -NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:exactMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:MappingCuration -NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005479 atrial tachycardia semapv:MappingCuration -NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:MappingCuration -NANDO:2200225 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:MappingCuration -NANDO:2200226 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:MappingCuration -NANDO:2200227 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:MappingCuration -NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:MappingCuration -NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0019171 familial long QT syndrome semapv:MappingCuration -NANDO:2200229 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration -NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:MappingCuration -NANDO:2200231 Non-compaction of the ventricle skos:exactMatch MONDO:0018901 left ventricular noncompaction semapv:MappingCuration -NANDO:2200232 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:MappingCuration -NANDO:2200233 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:MappingCuration -NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0006779 heart aneurysm semapv:MappingCuration -NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0015677 cardiac diverticulum semapv:MappingCuration -NANDO:2200235 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:MappingCuration -NANDO:2200236 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:MappingCuration -NANDO:2200239 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:MappingCuration -NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:exactMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:MappingCuration -NANDO:2200246 Stenosis or atresia of coronary artery skos:exactMatch MONDO:0006715 coronary stenosis semapv:MappingCuration -NANDO:2200248 Myocardial infarction skos:exactMatch MONDO:0005068 myocardial infarction semapv:MappingCuration -NANDO:2200249 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:MappingCuration -NANDO:2200250 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:MappingCuration -NANDO:2200251 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:MappingCuration -NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:MappingCuration -NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:MappingCuration -NANDO:2200254 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:MappingCuration -NANDO:2200256 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:MappingCuration -NANDO:2200257 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:MappingCuration -NANDO:2200258 Complete transposition of the great arteries skos:exactMatch MONDO:0000153 transposition of the great arteries semapv:MappingCuration -NANDO:2200259 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:MappingCuration -NANDO:2200260 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:MappingCuration -NANDO:2200262 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:MappingCuration -NANDO:2200263 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:MappingCuration -NANDO:2200264 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:MappingCuration -NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:MappingCuration -NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020439 patent foramen ovale semapv:MappingCuration -NANDO:2200267 Atrial septal defect, sinus venosus type skos:exactMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:MappingCuration -NANDO:2200268 Incomplete atrioventricular septal defect skos:exactMatch MONDO:0015275 partial atrioventricular canal semapv:MappingCuration -NANDO:2200269 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:MappingCuration -NANDO:2200270 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:MappingCuration -NANDO:2200271 Total anomalous pulmonary venous connection skos:exactMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:MappingCuration -NANDO:2200272 Partial anomalous pulmonary venous connection skos:exactMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:MappingCuration -NANDO:2200273 Pulmonary venous obstruction skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:MappingCuration -NANDO:2200274 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:MappingCuration -NANDO:2200275 Double-chambered right ventricle skos:exactMatch MONDO:0016581 conotruncal heart malformations semapv:MappingCuration -NANDO:2200276 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:MappingCuration -NANDO:2200277 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:MappingCuration -NANDO:2200278 Supravalvular pulmonary stenosis skos:exactMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:MappingCuration -NANDO:2200280 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:MappingCuration -NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:exactMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:MappingCuration -NANDO:2200282 Unilateral absence of a pulmonary artery skos:exactMatch MONDO:0020007 absence of the pulmonary artery semapv:MappingCuration -NANDO:2200283 Coarctation of the aorta skos:exactMatch MONDO:0007345 aorta coarctation semapv:MappingCuration -NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0007345 aorta coarctation semapv:MappingCuration -NANDO:2200285 Supravalvular aortic stenosis skos:exactMatch MONDO:0008504 supravalvular aortic stenosis semapv:MappingCuration -NANDO:2200286 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:MappingCuration -NANDO:2200288 Interruption of aortic arch complex skos:exactMatch MONDO:0009010 aortic arch interruption semapv:MappingCuration -NANDO:2200290 Double aortic arch disease skos:exactMatch MONDO:0020413 encircling double aortic arch semapv:MappingCuration -NANDO:2200293 Aneurysm of sinus valsalva skos:exactMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:MappingCuration -NANDO:2200294 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:MappingCuration -NANDO:2200295 Pulmonary arteriovenous fistulae skos:exactMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:MappingCuration -NANDO:2200296 Coronary artery fistula skos:exactMatch MONDO:0016081 coronary arterial fistulas semapv:MappingCuration -NANDO:2200298 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:MappingCuration -NANDO:2200299 Chronic cor pulmonale skos:exactMatch MONDO:0001493 chronic pulmonary heart disease semapv:MappingCuration -NANDO:2200300 Tricuspid valve stenosis skos:exactMatch MONDO:0005997 tricuspid valve stenosis semapv:MappingCuration -NANDO:2200301 Tricuspid valve regurgitation skos:exactMatch MONDO:0002870 tricuspid valve insufficiency semapv:MappingCuration -NANDO:2200302 Mitral valve stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:MappingCuration -NANDO:2200303 Mitral regurgitation skos:exactMatch MONDO:0001298 congenital mitral valve insufficiency semapv:MappingCuration -NANDO:2200304 Pulmonary valve stenosis skos:exactMatch MONDO:0006936 pulmonary valve stenosis semapv:MappingCuration -NANDO:2200305 Pulmonary valve regurgitation skos:exactMatch MONDO:0001927 pulmonary valve insufficiency semapv:MappingCuration -NANDO:2200306 Aortic valve stenosis skos:exactMatch MONDO:0042981 aortic valve stenosis semapv:MappingCuration -NANDO:2200307 Aortic valve regurgitation skos:exactMatch MONDO:0005648 aortic valve insufficiency semapv:MappingCuration -NANDO:2200308 Supramitral ring skos:exactMatch MONDO:0020400 congenital supravalvular mitral ring semapv:MappingCuration -NANDO:2200312 Congenital hypopituitarism skos:exactMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:MappingCuration -NANDO:2200313 Acquired hypopituitarism skos:exactMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:MappingCuration -NANDO:2200314 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:MappingCuration -NANDO:2200315 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:MappingCuration -NANDO:2200317 Congenital growth hormone deficiency skos:exactMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:MappingCuration -NANDO:2200320 IGF1 insensitivity skos:exactMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:MappingCuration -NANDO:2200321 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:MappingCuration -NANDO:2200322 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:MappingCuration -NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:MappingCuration -NANDO:2200324 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:MappingCuration -NANDO:2200325 Adipsic hypernatremia skos:exactMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:MappingCuration -NANDO:2200326 Nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:MappingCuration -NANDO:2200328 Basedow disease skos:exactMatch MONDO:0005364 Graves disease semapv:MappingCuration -NANDO:2200329 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:MappingCuration -NANDO:2200330 Ectoic thyroid skos:exactMatch MONDO:0019854 thyroid ectopia semapv:MappingCuration -NANDO:2200331 Thyroid agenesis skos:exactMatch MONDO:0019855 athyreosis semapv:MappingCuration -NANDO:2200332 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:MappingCuration -NANDO:2200333 Congenital hypothyroidism skos:exactMatch MONDO:0018612 congenital hypothyroidism semapv:MappingCuration -NANDO:2200335 Hashimoto disease skos:exactMatch MONDO:0007699 Hashimoto thyroiditis semapv:MappingCuration -NANDO:2200336 Atrophic thyroiditis skos:exactMatch MONDO:0005624 atrophic thyroiditis semapv:MappingCuration -NANDO:2200340 Central hypothyroidism skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:MappingCuration -NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:MappingCuration -NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:MappingCuration -NANDO:2200343 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:MappingCuration -NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:MappingCuration -NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:MappingCuration -NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:MappingCuration -NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:exactMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:MappingCuration -NANDO:2200348 Pseudopseudohypoparathyroidism skos:exactMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:MappingCuration -NANDO:2200349 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:MappingCuration -NANDO:2200350 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:MappingCuration -NANDO:2200351 Ectopic ACTH syndrome skos:exactMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:MappingCuration -NANDO:2200352 Adrenal adenoma skos:exactMatch MONDO:0003924 adrenal cortex adenoma semapv:MappingCuration -NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:MappingCuration -NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration -NANDO:2200358 Glucocorticoid resistance skos:exactMatch MONDO:0014421 glucocorticoid resistance semapv:MappingCuration -NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:MappingCuration -NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:MappingCuration -NANDO:2200360 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:MappingCuration -NANDO:2200360 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:MappingCuration -NANDO:2200361 Aldosteronism skos:exactMatch MONDO:0001422 primary aldosteronism semapv:MappingCuration -NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:MappingCuration -NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:MappingCuration -NANDO:2200363 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:MappingCuration -NANDO:2200365 Aldosterone synthase deficiency skos:exactMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:MappingCuration -NANDO:2200367 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:MappingCuration -NANDO:2200368 Pseudohypoaldosteronism type I skos:exactMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:MappingCuration -NANDO:2200369 Pseudohypoaldosteronism type II skos:exactMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:MappingCuration -NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:MappingCuration -NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:MappingCuration -NANDO:2200372 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:MappingCuration -NANDO:2200373 17 alpha-hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:MappingCuration -NANDO:2200375 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:MappingCuration -NANDO:2200377 Gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:MappingCuration -NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0015791 peripheral precocious puberty semapv:MappingCuration -NANDO:2200379 Hyperestrogenism skos:exactMatch MONDO:0001946 obsolete hyperestrogenism semapv:MappingCuration -NANDO:2200380 Hyperandrogenism skos:exactMatch MONDO:0001324 obsolete hyperandrogenism semapv:MappingCuration -NANDO:2200381 Kallmann syndrome skos:exactMatch MONDO:0018800 Kallmann syndrome semapv:MappingCuration -NANDO:2200382 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:MappingCuration -NANDO:2200383 Testicular dysgenesis skos:exactMatch MONDO:0005437 testicular dysgenesis syndrome semapv:MappingCuration -NANDO:2200386 Klinefelter syndrome skos:exactMatch MONDO:0006823 Klinefelter syndrome semapv:MappingCuration -NANDO:2200387 Ovotesticular dsd skos:exactMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:MappingCuration -NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0001969 mixed gonadal dysgenesis semapv:MappingCuration -NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:MappingCuration -NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:MappingCuration -NANDO:2200391 Androgen insensitivity syndrome skos:exactMatch MONDO:0019154 androgen insensitivity syndrome semapv:MappingCuration -NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020040 46,XY disorder of sex development semapv:MappingCuration -NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:MappingCuration -NANDO:2200394 Vipoma skos:exactMatch MONDO:0019960 VIPoma semapv:MappingCuration -NANDO:2200395 Gastrinoma skos:exactMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:MappingCuration -NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0005369 carcinoid tumor semapv:MappingCuration -NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0006689 obsolete carcinoid syndrome semapv:MappingCuration -NANDO:2200397 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:MappingCuration -NANDO:2200398 Insulinoma skos:exactMatch MONDO:0024677 pancreatic insulinoma semapv:MappingCuration -NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:MappingCuration -NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:MappingCuration -NANDO:2200401 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:MappingCuration -NANDO:2200402 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:MappingCuration -NANDO:2200403 Primary hypophosphatemic rickets skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:MappingCuration -NANDO:2200404 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:MappingCuration -NANDO:2200405 Multiple endocrine neoplasia type 1 skos:exactMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:MappingCuration -NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:MappingCuration -NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:MappingCuration -NANDO:2200408 Von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:MappingCuration -NANDO:2200409 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:MappingCuration -NANDO:2200410 Turner syndrome skos:exactMatch MONDO:0019499 Turner syndrome semapv:MappingCuration -NANDO:2200411 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:MappingCuration -NANDO:2200412 McCune-Albright syndrome skos:exactMatch MONDO:0018919 McCune-Albright syndrome semapv:MappingCuration -NANDO:2200413 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:MappingCuration -NANDO:2200414 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 Bardet-Biedl syndrome semapv:MappingCuration -NANDO:2200415 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:MappingCuration -NANDO:2200416 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:MappingCuration -NANDO:2200418 Juvenile dermatomyositis skos:exactMatch MONDO:0008054 juvenile dermatomyositis semapv:MappingCuration -NANDO:2200419 Juvenile polymyositis skos:exactMatch MONDO:0019734 juvenile polymyositis semapv:MappingCuration -NANDO:2200420 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:MappingCuration -NANDO:2200421 Anti-phospholipid antibody syndrome skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:MappingCuration -NANDO:2200422 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:MappingCuration -NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:MappingCuration -NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:MappingCuration -NANDO:2200424 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:MappingCuration -NANDO:2200426 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:MappingCuration -NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:MappingCuration -NANDO:2200428 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:MappingCuration -NANDO:2200429 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:MappingCuration -NANDO:2200430 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:MappingCuration -NANDO:2200431 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:MappingCuration -NANDO:2200432 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:MappingCuration -NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:MappingCuration -NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:exactMatch MONDO:0008523 Blau syndrome semapv:MappingCuration -NANDO:2200435 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:MappingCuration -NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:MappingCuration -NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0017708 mevalonate kinase deficiency semapv:MappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0004471 bacterial arthritis semapv:MappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:MappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0018824 pyoderma gangrenosum semapv:MappingCuration -NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:MappingCuration -NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:exactMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:MappingCuration -NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:MappingCuration -NANDO:2200443 CARD14 deficiency skos:exactMatch MONDO:0011269 psoriasis 2 semapv:MappingCuration -NANDO:2200444 Cherubism skos:exactMatch MONDO:0007315 cherubism semapv:MappingCuration -NANDO:2200446 IL10 deficiency skos:exactMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:MappingCuration -NANDO:2200447 IL-10RA deficiency skos:exactMatch MONDO:0013153 inflammatory bowel disease 28 semapv:MappingCuration -NANDO:2200448 IL-10RB deficiency skos:exactMatch MONDO:0012941 inflammatory bowel disease 25 semapv:MappingCuration -NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:MappingCuration -NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:MappingCuration -NANDO:2200451 PLCg2 deficiency skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:MappingCuration -NANDO:2200452 IL36RN deficiency skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:MappingCuration -NANDO:2200453 Majeed syndrome skos:exactMatch MONDO:0012316 Majeed syndrome semapv:MappingCuration -NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:MappingCuration -NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:MappingCuration -NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:MappingCuration -NANDO:2200456 RBCK1 deficiency skos:exactMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:MappingCuration -NANDO:2200457 SLC29A3 deficiency skos:exactMatch MONDO:0011273 H syndrome semapv:MappingCuration -NANDO:2200458 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:MappingCuration -NANDO:2200460 Diabetes mellitus type 1 skos:exactMatch MONDO:0005147 type 1 diabetes mellitus semapv:MappingCuration -NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0005148 type 2 diabetes mellitus semapv:MappingCuration -NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:MappingCuration -NANDO:2200462 Maturity-onset diabetes of the young skos:exactMatch MONDO:0018911 maturity-onset diabetes of the young semapv:MappingCuration -NANDO:2200463 Neonatal diabetes mellitus skos:exactMatch MONDO:0016391 neonatal diabetes mellitus semapv:MappingCuration -NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0005827 lipoatrophic diabetes semapv:MappingCuration -NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:MappingCuration -NANDO:2200467 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:MappingCuration -NANDO:2200468 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:MappingCuration -NANDO:2200469 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:MappingCuration -NANDO:2200470 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:MappingCuration -NANDO:2200471 Hyperprolinemia skos:exactMatch MONDO:0023419 hyperprolinemia semapv:MappingCuration -NANDO:2200472 Prolidase deficiency skos:exactMatch MONDO:0008221 prolidase deficiency semapv:MappingCuration -NANDO:2200473 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:MappingCuration -NANDO:2200474 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:MappingCuration -NANDO:2200475 Hypermethioninemia skos:exactMatch MONDO:0000351 disorder of methionine catabolism semapv:MappingCuration -NANDO:2200476 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:MappingCuration -NANDO:2200477 N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:MappingCuration -NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:MappingCuration -NANDO:2200479 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:MappingCuration -NANDO:2200480 Argininosuccinate synthetase deficiency skos:exactMatch MONDO:0008988 citrullinemia type I semapv:MappingCuration -NANDO:2200481 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:MappingCuration -NANDO:2200482 Hyperargininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:MappingCuration -NANDO:2200483 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:MappingCuration -NANDO:2200484 Hyperornithinemia skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:MappingCuration -NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch MONDO:0009393 ornithine translocase deficiency semapv:MappingCuration -NANDO:2200486 Gyrate atrophy of choroid and retina skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:MappingCuration -NANDO:2200487 Hartnup disease skos:exactMatch MONDO:0009324 Hartnup disease semapv:MappingCuration -NANDO:2200488 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:MappingCuration -NANDO:2200489 Cystinuria skos:exactMatch MONDO:0009067 cystinuria semapv:MappingCuration -NANDO:2200491 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:MappingCuration -NANDO:2200492 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:MappingCuration -NANDO:2200493 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:MappingCuration -NANDO:2200494 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:MappingCuration -NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:MappingCuration -NANDO:2200496 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:MappingCuration -NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:MappingCuration -NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:MappingCuration -NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:MappingCuration -NANDO:2200500 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:MappingCuration -NANDO:2200501 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:MappingCuration -NANDO:2200502 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:MappingCuration -NANDO:2200503 Primary hyperoxaluria skos:exactMatch MONDO:0002474 primary hyperoxaluria semapv:MappingCuration -NANDO:2200504 Alkaptonuria skos:exactMatch MONDO:0008753 alkaptonuria semapv:MappingCuration -NANDO:2200505 Glycerol kinase deficiency skos:exactMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:MappingCuration -NANDO:2200506 Inborn errors of bile acid metabolism skos:exactMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:MappingCuration -NANDO:2200508 Organic cation transporter 2 deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:MappingCuration -NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:MappingCuration -NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:MappingCuration -NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:MappingCuration -NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:MappingCuration -NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:MappingCuration -NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:MappingCuration -NANDO:2200515 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:MappingCuration -NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:MappingCuration -NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:MappingCuration -NANDO:2200519 Pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:MappingCuration -NANDO:2200520 Fumarase deficiency skos:exactMatch MONDO:0011730 fumaric aciduria semapv:MappingCuration -NANDO:2200522 Mitochondrial respiratory chain disorders skos:exactMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:MappingCuration -NANDO:2200523 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:MappingCuration -NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:exactMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:MappingCuration -NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:exactMatch MONDO:0010789 MELAS syndrome semapv:MappingCuration -NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:MappingCuration -NANDO:2200527 Leigh syndrome skos:exactMatch MONDO:0009723 Leigh syndrome semapv:MappingCuration -NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:MappingCuration -NANDO:2200529 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:MappingCuration -NANDO:2200531 Hereditary fructose intolerance skos:exactMatch MONDO:0009249 hereditary fructose intolerance semapv:MappingCuration -NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:MappingCuration -NANDO:2200533 Galactokinase deficiency skos:exactMatch MONDO:0009255 galactokinase deficiency semapv:MappingCuration -NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:exactMatch MONDO:0009257 galactose epimerase deficiency semapv:MappingCuration -NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:exactMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:MappingCuration -NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:MappingCuration -NANDO:2200537 Glycogen synthase deficiency skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:MappingCuration -NANDO:2200538 Glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:MappingCuration -NANDO:2200539 Glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:MappingCuration -NANDO:2200540 Glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:MappingCuration -NANDO:2200541 Glycogen storage disease type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:MappingCuration -NANDO:2200542 Glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:MappingCuration -NANDO:2200543 Glycogen storage disease type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:MappingCuration -NANDO:2200544 Glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:MappingCuration -NANDO:2200545 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:MappingCuration -NANDO:2200547 Mucopolysaccharidosis type I skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:MappingCuration -NANDO:2200548 Mucopolysaccharidosis type II skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:MappingCuration -NANDO:2200549 Mucopolysaccharidosis type III skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:MappingCuration -NANDO:2200550 Mucopolysaccharidosis type IV skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:MappingCuration -NANDO:2200551 Mucopolysaccharidosis type VI skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:MappingCuration -NANDO:2200552 Mucopolysaccharidosis type VII skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:MappingCuration -NANDO:2200553 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:MappingCuration -NANDO:2200555 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:MappingCuration -NANDO:2200556 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:MappingCuration -NANDO:2200557 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:MappingCuration -NANDO:2200558 GM1 Gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:MappingCuration -NANDO:2200559 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:MappingCuration -NANDO:2200560 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:MappingCuration -NANDO:2200561 Niemann-Pick disease skos:exactMatch MONDO:0001982 Niemann-Pick disease semapv:MappingCuration -NANDO:2200562 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:MappingCuration -NANDO:2200563 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:MappingCuration -NANDO:2200564 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:MappingCuration -NANDO:2200565 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:MappingCuration -NANDO:2200566 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:MappingCuration -NANDO:2200567 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:MappingCuration -NANDO:2200568 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:MappingCuration -NANDO:2200569 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:MappingCuration -NANDO:2200570 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:MappingCuration -NANDO:2200571 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:MappingCuration -NANDO:2200572 Free Sialic Acid Storage Disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:MappingCuration -NANDO:2200573 Neuronal ceroid lipofuscinoses skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:2200575 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:MappingCuration -NANDO:2200576 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:MappingCuration -NANDO:2200577 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:MappingCuration -NANDO:2200579 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:MappingCuration -NANDO:2200580 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:MappingCuration -NANDO:2200581 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:MappingCuration -NANDO:2200582 Aceruloplasminemia skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:MappingCuration -NANDO:2200583 Sulfite oxidase deficiency skos:exactMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:MappingCuration -NANDO:2200584 Acrodermatitis enteropathica skos:exactMatch MONDO:0008713 acrodermatitis enteropathica semapv:MappingCuration -NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:MappingCuration -NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:MappingCuration -NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:exactMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:MappingCuration -NANDO:2200588 Xanthinuria skos:exactMatch MONDO:0000721 xanthinuria semapv:MappingCuration -NANDO:2200590 Orotic aciduria skos:exactMatch MONDO:0009797 orotic aciduria semapv:MappingCuration -NANDO:2200592 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:MappingCuration -NANDO:2200594 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:MappingCuration -NANDO:2200595 Tyrosine hydroxylase deficiency skos:exactMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:MappingCuration -NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:MappingCuration -NANDO:2200597 Dopamine beta hydroxylase deficiency skos:exactMatch MONDO:0009123 orthostatic hypotension 1 semapv:MappingCuration -NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:exactMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:MappingCuration -NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:MappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0005439 familial hypercholesterolemia semapv:MappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:MappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0016525 familial hyperaldosteronism semapv:MappingCuration -NANDO:2200604 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:MappingCuration -NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0017773 hypoalphalipoproteinemia semapv:MappingCuration -NANDO:2200607 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:MappingCuration -NANDO:2200608 Lipoid proteinosis skos:exactMatch MONDO:0009530 lipoid proteinosis semapv:MappingCuration -NANDO:2200611 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:MappingCuration -NANDO:2200612 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:MappingCuration -NANDO:2200614 Congenital red cell aplasia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:MappingCuration -NANDO:2200615 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:MappingCuration -NANDO:2200616 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:MappingCuration -NANDO:2200617 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:MappingCuration -NANDO:2200618 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:MappingCuration -NANDO:2200619 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:MappingCuration -NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:MappingCuration -NANDO:2200622 Hereditary spherocytosis skos:exactMatch MONDO:0019350 hereditary spherocytosis semapv:MappingCuration -NANDO:2200623 Hereditary stomatocytosis skos:exactMatch MONDO:0020102 hereditary stomatocytosis semapv:MappingCuration -NANDO:2200624 Sickle cell disease skos:exactMatch MONDO:0011382 sickle cell anemia semapv:MappingCuration -NANDO:2200625 Unstable hemoglobin disease skos:exactMatch MONDO:0020459 unstable hemoglobin disease semapv:MappingCuration -NANDO:2200626 Thalassemia skos:exactMatch MONDO:0000984 thalassemia semapv:MappingCuration -NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:exactMatch MONDO:0005775 G6PD deficiency semapv:MappingCuration -NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:MappingCuration -NANDO:2200630 Hereditary elliptocytosis skos:exactMatch MONDO:0017319 hereditary elliptocytosis semapv:MappingCuration -NANDO:2200631 Hereditary pyropoikilocytosis skos:exactMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:MappingCuration -NANDO:2200633 Stomatocytic xerocytosis skos:exactMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:MappingCuration -NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:exactMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:MappingCuration -NANDO:2200635 Hemoglobin C disease skos:exactMatch MONDO:0016242 hemoglobin C disease semapv:MappingCuration -NANDO:2200636 Hemolytic anemia skos:exactMatch MONDO:0003664 hemolytic anemia semapv:MappingCuration -NANDO:2200637 Hypersplenism skos:exactMatch MONDO:0006795 hypersplenism semapv:MappingCuration -NANDO:2200639 Disseminated intravascular coagulation skos:exactMatch MONDO:0001243 disseminated intravascular coagulation semapv:MappingCuration -NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:exactMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:MappingCuration -NANDO:2200641 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:MappingCuration -NANDO:2200643 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:MappingCuration -NANDO:2200644 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:MappingCuration -NANDO:2200645 Immune thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:MappingCuration -NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:exactMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:MappingCuration -NANDO:2200648 Heparin-induced thrombocytopenia skos:exactMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:MappingCuration -NANDO:2200649 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:MappingCuration -NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:MappingCuration -NANDO:2200652 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:MappingCuration -NANDO:2200653 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:MappingCuration -NANDO:2200654 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:MappingCuration -NANDO:2200655 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:MappingCuration -NANDO:2200656 Bernard-Soulier syndrome skos:exactMatch MONDO:0009276 Bernard-Soulier syndrome semapv:MappingCuration -NANDO:2200657 Thrombasthenia skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:MappingCuration -NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:exactMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:MappingCuration -NANDO:2200661 Thrombocytopenia with absent radii skos:exactMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:MappingCuration -NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:exactMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:MappingCuration -NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:exactMatch MONDO:0008555 thrombocytopenia 2 semapv:MappingCuration -NANDO:2200664 ITGA2B/ITGB3 mutations skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:MappingCuration -NANDO:2200665 ACTN1 mutations skos:exactMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:MappingCuration -NANDO:2200667 β-1 tubulin disorders skos:exactMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:MappingCuration -NANDO:2200668 Platelet-type von Willebrand disease skos:exactMatch MONDO:0008332 platelet-type von Willebrand disease semapv:MappingCuration -NANDO:2200669 ADP receptor deficiencies skos:exactMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:MappingCuration -NANDO:2200670 Abnormalities in platelet collagen receptors skos:exactMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:MappingCuration -NANDO:2200671 Scott syndrome skos:exactMatch MONDO:0009885 Scott syndrome semapv:MappingCuration -NANDO:2200674 Factor V deficiency skos:exactMatch MONDO:0020586 factor V deficiency semapv:MappingCuration -NANDO:2200675 Factor VII deficiency skos:exactMatch MONDO:0002244 factor VII deficiency semapv:MappingCuration -NANDO:2200676 Hemophilia A skos:exactMatch MONDO:0010602 hemophilia A semapv:MappingCuration -NANDO:2200677 Hemophilia B skos:exactMatch MONDO:0010604 hemophilia B semapv:MappingCuration -NANDO:2200678 Factor X deficiency skos:exactMatch MONDO:0002247 factor X deficiency semapv:MappingCuration -NANDO:2200679 Factor XI deficiency skos:exactMatch MONDO:0020587 factor XI deficiency semapv:MappingCuration -NANDO:2200680 Factor XII deficiency skos:exactMatch MONDO:0009315 congenital factor XII deficiency semapv:MappingCuration -NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0002241 factor XIII deficiency semapv:MappingCuration -NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0018029 congenital factor XIII deficiency semapv:MappingCuration -NANDO:2200682 Von Willebrand disease skos:exactMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:MappingCuration -NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0012901 inherited prekallikrein deficiency semapv:MappingCuration -NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0044744 prekallikrein deficiency semapv:MappingCuration -NANDO:2200685 High molecular weight kininogen deficiency skos:exactMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:MappingCuration -NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:exactMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:MappingCuration -NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:exactMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:MappingCuration -NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:exactMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:MappingCuration -NANDO:2200689 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:MappingCuration -NANDO:2200690 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:MappingCuration -NANDO:2200692 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:MappingCuration -NANDO:2200693 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:MappingCuration -NANDO:2200694 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:MappingCuration -NANDO:2200695 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:MappingCuration -NANDO:2200696 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:MappingCuration -NANDO:2200697 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:MappingCuration -NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:MappingCuration -NANDO:2200699 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:MappingCuration -NANDO:2200701 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:MappingCuration -NANDO:2200702 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:MappingCuration -NANDO:2200704 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:MappingCuration -NANDO:2200705 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:MappingCuration -NANDO:2200706 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:MappingCuration -NANDO:2200707 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:MappingCuration -NANDO:2200708 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:MappingCuration -NANDO:2200710 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:MappingCuration -NANDO:2200711 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:MappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:MappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:MappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:MappingCuration -NANDO:2200713 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:MappingCuration -NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:MappingCuration -NANDO:2200715 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:MappingCuration -NANDO:2200716 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:MappingCuration -NANDO:2200717 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:MappingCuration -NANDO:2200718 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:MappingCuration -NANDO:2200719 Isolated IgG subclass deficiency skos:exactMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:MappingCuration -NANDO:2200720 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:MappingCuration -NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:MappingCuration -NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:MappingCuration -NANDO:2200724 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:MappingCuration -NANDO:2200725 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:MappingCuration -NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:MappingCuration -NANDO:2200728 Perforin deficiency skos:exactMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:MappingCuration -NANDO:2200729 UNC13D/Munc13-4 deficiency skos:exactMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:MappingCuration -NANDO:2200730 Syntaxin 11 deficiency skos:exactMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:MappingCuration -NANDO:2200731 STXBP2/Munc18-2 deficiency skos:exactMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:MappingCuration -NANDO:2200732 Griscelli syndrome type 2 skos:exactMatch MONDO:0011872 Griscelli syndrome type 2 semapv:MappingCuration -NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:exactMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:MappingCuration -NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:exactMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:MappingCuration -NANDO:2200735 CD27 deficiency skos:exactMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:MappingCuration -NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:MappingCuration -NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:MappingCuration -NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:MappingCuration -NANDO:2200740 Caspase-8 deficiency skos:exactMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:MappingCuration -NANDO:2200741 Fas-associated death domain protein deficiency skos:exactMatch MONDO:0013408 FADD-related immunodeficiency semapv:MappingCuration -NANDO:2200743 PKC-δ deficiency skos:exactMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:MappingCuration -NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:exactMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:MappingCuration -NANDO:2200745 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:MappingCuration -NANDO:2200746 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:MappingCuration -NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:exactMatch MONDO:0011405 poikiloderma with neutropenia semapv:MappingCuration -NANDO:2200750 Cohen syndrome skos:exactMatch MONDO:0008999 Cohen syndrome semapv:MappingCuration -NANDO:2200751 Barth syndrome skos:exactMatch MONDO:0010543 Barth syndrome semapv:MappingCuration -NANDO:2200752 P14 deficiency skos:exactMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:MappingCuration -NANDO:2200753 X linked severe congenital neutropenia skos:exactMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:MappingCuration -NANDO:2200754 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:MappingCuration -NANDO:2200755 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:MappingCuration -NANDO:2200756 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:MappingCuration -NANDO:2200757 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:MappingCuration -NANDO:2200758 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:MappingCuration -NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:MappingCuration -NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:MappingCuration -NANDO:2200762 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:MappingCuration -NANDO:2200763 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:MappingCuration -NANDO:2200764 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:MappingCuration -NANDO:2200766 HOIL-1 deficiency skos:exactMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:MappingCuration -NANDO:2200767 WHIM syndrome skos:exactMatch MONDO:0008674 obsolete WHIM syndrome semapv:MappingCuration -NANDO:2200768 Epidermodysplasia verruciformis skos:exactMatch MONDO:0009176 epidermodysplasia verruciformis semapv:MappingCuration -NANDO:2200770 STAT2 deficiency skos:exactMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:MappingCuration -NANDO:2200771 MCM4 mutation skos:exactMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:MappingCuration -NANDO:2200772 Herpes simplex encephalitis skos:exactMatch MONDO:0012521 herpes simplex encephalitis semapv:MappingCuration -NANDO:2200774 Trypanosomiasis skos:exactMatch MONDO:0000940 trypanosomiasis semapv:MappingCuration -NANDO:2200775 Isolated congenital asplenia skos:exactMatch MONDO:0010066 familial isolated congenital asplenia semapv:MappingCuration -NANDO:2200776 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:MappingCuration -NANDO:2200777 C1q deficiency skos:exactMatch MONDO:0013343 C1Q deficiency semapv:MappingCuration -NANDO:2200779 C1s deficiency skos:exactMatch MONDO:0013419 complement component C1s deficiency semapv:MappingCuration -NANDO:2200781 C2 deficiency skos:exactMatch MONDO:0009006 complement component 2 deficiency semapv:MappingCuration -NANDO:2200782 C3 deficiency skos:exactMatch MONDO:0013417 complement component 3 deficiency semapv:MappingCuration -NANDO:2200783 C5 deficiency skos:exactMatch MONDO:0012295 complement component 5 deficiency semapv:MappingCuration -NANDO:2200784 C6 deficiency skos:exactMatch MONDO:0012908 complement component 6 deficiency semapv:MappingCuration -NANDO:2200785 C7 deficiency skos:exactMatch MONDO:0012412 complement component 7 deficiency semapv:MappingCuration -NANDO:2200787 C9 deficiency skos:exactMatch MONDO:0013445 complement component 9 deficiency semapv:MappingCuration -NANDO:2200789 Properdin deficiency skos:exactMatch MONDO:0010713 properdin deficiency, X-linked semapv:MappingCuration -NANDO:2200791 Factor H deficiency skos:exactMatch MONDO:0012350 complement factor H deficiency semapv:MappingCuration -NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:exactMatch MONDO:0017398 3MC syndrome semapv:MappingCuration -NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:MappingCuration -NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:MappingCuration -NANDO:2200797 Factor B deficiency skos:exactMatch MONDO:0014255 complement factor b deficiency semapv:MappingCuration -NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:MappingCuration -NANDO:2200803 CD46 deficiency skos:exactMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:MappingCuration -NANDO:2200804 Primary CD59 deficiency skos:exactMatch MONDO:0012858 primary CD59 deficiency semapv:MappingCuration -NANDO:2200805 Hyper eosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:MappingCuration -NANDO:2200806 Hypereosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:MappingCuration -NANDO:2200807 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:MappingCuration -NANDO:2200808 Chronic active EB virus infection skos:exactMatch MONDO:0009194 immunodeficiency 32B semapv:MappingCuration -NANDO:2200809 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:MappingCuration -NANDO:2200810 HIV infection skos:exactMatch MONDO:0005109 HIV infectious disease semapv:MappingCuration -NANDO:2200812 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:MappingCuration -NANDO:2200813 Meningoencephalocele skos:exactMatch MONDO:0017079 meningoencephalocele semapv:MappingCuration -NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:MappingCuration -NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:MappingCuration -NANDO:2200815 Spinal lipoma skos:exactMatch MONDO:0001790 spinal cord lipoma semapv:MappingCuration -NANDO:2200816 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:MappingCuration -NANDO:2200817 Lissencephaly skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:MappingCuration -NANDO:2200818 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:MappingCuration -NANDO:2200819 Holoprosencephaly skos:exactMatch MONDO:0016296 holoprosencephaly semapv:MappingCuration -NANDO:2200820 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:MappingCuration -NANDO:2200821 Dandy-Walker syndrome skos:exactMatch MONDO:0009072 Dandy-Walker syndrome semapv:MappingCuration -NANDO:2200822 Congenital hydrocephalus skos:exactMatch MONDO:0016349 congenital hydrocephalus semapv:MappingCuration -NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:exactMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:MappingCuration -NANDO:2200824 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:MappingCuration -NANDO:2200825 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:MappingCuration -NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:MappingCuration -NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:MappingCuration -NANDO:2200827 Neurocutaneous melanosis skos:exactMatch MONDO:0009578 neurocutaneous melanocytosis semapv:MappingCuration -NANDO:2200828 Gorlin syndrome skos:exactMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:MappingCuration -NANDO:2200829 von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:MappingCuration -NANDO:2200830 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:MappingCuration -NANDO:2200831 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:MappingCuration -NANDO:2200832 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:MappingCuration -NANDO:2200833 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:MappingCuration -NANDO:2200834 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:MappingCuration -NANDO:2200835 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:MappingCuration -NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:MappingCuration -NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:MappingCuration -NANDO:2200838 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:MappingCuration -NANDO:2200839 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:MappingCuration -NANDO:2200840 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:MappingCuration -NANDO:2200842 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:MappingCuration -NANDO:2200843 Non-syndromic craniosynostosis skos:exactMatch MONDO:0015337 isolated craniosynostosis semapv:MappingCuration -NANDO:2200844 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:MappingCuration -NANDO:2200845 Crouzon disease skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:MappingCuration -NANDO:2200847 Carpenter syndrome skos:exactMatch MONDO:0019012 Carpenter syndrome semapv:MappingCuration -NANDO:2200848 Saethre-Chotzen syndrome skos:exactMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:MappingCuration -NANDO:2200850 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:MappingCuration -NANDO:2200851 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:MappingCuration -NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:exactMatch MONDO:0002327 intracranial cavernous angioma semapv:MappingCuration -NANDO:2200853 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:MappingCuration -NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:MappingCuration -NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:MappingCuration -NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:MappingCuration -NANDO:2200856 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:MappingCuration -NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:MappingCuration -NANDO:2200858 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:MappingCuration -NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:MappingCuration -NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:MappingCuration -NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:exactMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:MappingCuration -NANDO:2200862 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:MappingCuration -NANDO:2200864 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:MappingCuration -NANDO:2200865 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:MappingCuration -NANDO:2200866 LMNA-related congenital muscular dystrophy skos:exactMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:MappingCuration -NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:MappingCuration -NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:MappingCuration -NANDO:2200868 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:MappingCuration -NANDO:2200869 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:MappingCuration -NANDO:2200870 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:MappingCuration -NANDO:2200871 Multicore disease skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:MappingCuration -NANDO:2200875 Reducing body myopathy skos:exactMatch MONDO:0019948 reducing body myopathy semapv:MappingCuration -NANDO:2200876 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:MappingCuration -NANDO:2200877 Severe myoclonic epilepsy in infancy skos:exactMatch MONDO:0100135 Dravet syndrome semapv:MappingCuration -NANDO:2200878 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:MappingCuration -NANDO:2200879 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:MappingCuration -NANDO:2200880 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:MappingCuration -NANDO:2200881 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:MappingCuration -NANDO:2200882 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:MappingCuration -NANDO:2200883 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:MappingCuration -NANDO:2200884 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:MappingCuration -NANDO:2200885 Segawa syndrome skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:MappingCuration -NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:MappingCuration -NANDO:2200887 Infantile neuroaxonal dystrophy skos:exactMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:MappingCuration -NANDO:2200888 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:MappingCuration -NANDO:2200889 Congenital herpes simplex virus infection skos:exactMatch MONDO:0017381 congenital herpes simplex virus infection semapv:MappingCuration -NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0005713 obsolete MONDO:0005713 semapv:MappingCuration -NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0017361 congenital rubella syndrome semapv:MappingCuration -NANDO:2200891 Congenital cytomegalovirus infection skos:exactMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:MappingCuration -NANDO:2200892 Congenital toxoplasmosis skos:exactMatch MONDO:0005715 congenital toxoplasmosis semapv:MappingCuration -NANDO:2200893 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:MappingCuration -NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:exactMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:MappingCuration -NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:exactMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:MappingCuration -NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:exactMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:MappingCuration -NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:exactMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:MappingCuration -NANDO:2200899 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:MappingCuration -NANDO:2200900 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:MappingCuration -NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingCuration -NANDO:2200902 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:MappingCuration -NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:MappingCuration -NANDO:2200904 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:MappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:MappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:MappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:MappingCuration -NANDO:2200906 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:MappingCuration -NANDO:2200907 Lactose intolerance skos:exactMatch MONDO:0009116 obsolete lactose intolerance semapv:MappingCuration -NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:exactMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:MappingCuration -NANDO:2200909 Glucose-galactose malabsorption skos:exactMatch MONDO:0011731 glucose-galactose malabsorption semapv:MappingCuration -NANDO:2200910 Enterokinase deficiency skos:exactMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:MappingCuration -NANDO:2200911 Amylase deficiency skos:exactMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:MappingCuration -NANDO:2200912 Lipase deficiency skos:exactMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:MappingCuration -NANDO:2200913 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:MappingCuration -NANDO:2200914 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:MappingCuration -NANDO:2200915 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 classic familial adenomatous polyposis semapv:MappingCuration -NANDO:2200916 Juvenile polyposis skos:exactMatch MONDO:0017380 juvenile polyposis syndrome semapv:MappingCuration -NANDO:2200917 Peutz-Jeghers syndrome skos:exactMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:MappingCuration -NANDO:2200918 Cowden syndrome skos:exactMatch MONDO:0016063 Cowden disease semapv:MappingCuration -NANDO:2200919 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:MappingCuration -NANDO:2200920 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:MappingCuration -NANDO:2200921 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:MappingCuration -NANDO:2200923 Autoimmune enteropathy skos:exactMatch MONDO:0019787 autoimmune enteropathy semapv:MappingCuration -NANDO:2200924 IPEX syndrome skos:exactMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:MappingCuration -NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:MappingCuration -NANDO:2200930 biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:MappingCuration -NANDO:2200930 biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:MappingCuration -NANDO:2200931 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:MappingCuration -NANDO:2200933 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:MappingCuration -NANDO:2200934 Caroli disease skos:exactMatch MONDO:0010913 Caroli disease semapv:MappingCuration -NANDO:2200934 Caroli disease skos:exactMatch MONDO:0018808 Caroli syndrome semapv:MappingCuration -NANDO:2200936 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:MappingCuration -NANDO:2200937 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:MappingCuration -NANDO:2200941 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:MappingCuration -NANDO:2200942 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:MappingCuration -NANDO:2200943 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:MappingCuration -NANDO:2200944 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:MappingCuration -NANDO:2200945 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:MappingCuration -NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:MappingCuration -NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingCuration -NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:MappingCuration -NANDO:2200950 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:MappingCuration -NANDO:2200951 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:MappingCuration -NANDO:2200952 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:MappingCuration -NANDO:2200953 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:MappingCuration -NANDO:2200954 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:MappingCuration -NANDO:2200955 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:MappingCuration -NANDO:2200956 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:MappingCuration -NANDO:2200957 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:MappingCuration -NANDO:2200958 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:MappingCuration -NANDO:2200959 Beckwith-Wiedemann syndrome skos:exactMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:MappingCuration -NANDO:2200960 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:MappingCuration -NANDO:2200961 5p- syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:MappingCuration -NANDO:2200962 4p- Syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:MappingCuration -NANDO:2200963 Trisomy 18 skos:exactMatch MONDO:0018071 trisomy 18 semapv:MappingCuration -NANDO:2200964 Trisomy 13 skos:exactMatch MONDO:0018068 trisomy 13 semapv:MappingCuration -NANDO:2200965 Down syndrome skos:exactMatch MONDO:0008608 Down syndrome semapv:MappingCuration -NANDO:2200967 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:MappingCuration -NANDO:2200968 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:MappingCuration -NANDO:2200969 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 Loeys-Dietz syndrome semapv:MappingCuration -NANDO:2200970 Camurati-Engelmann disease skos:exactMatch MONDO:0007542 Camurati-Engelmann disease semapv:MappingCuration -NANDO:2200971 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:MappingCuration -NANDO:2200972 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:MappingCuration -NANDO:2200973 Hallermann-Streiff syndrome skos:exactMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:MappingCuration -NANDO:2200974 Incontinentia pigmenti skos:exactMatch MONDO:0010631 incontinentia pigmenti semapv:MappingCuration -NANDO:2200975 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:MappingCuration -NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:MappingCuration -NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:MappingCuration -NANDO:2200977 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:MappingCuration -NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:exactMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:MappingCuration -NANDO:2200979 Smith-Lemli-Opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:MappingCuration -NANDO:2200980 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:MappingCuration -NANDO:2200981 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:MappingCuration -NANDO:2200982 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:MappingCuration -NANDO:2200983 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:MappingCuration -NANDO:2200984 MECP2 duplication syndrome skos:exactMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:MappingCuration -NANDO:2200985 Takenouchi-Kosaki syndrome skos:exactMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:MappingCuration -NANDO:2200986 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:MappingCuration -NANDO:2200987 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:MappingCuration -NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:MappingCuration -NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:MappingCuration -NANDO:2200990 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:MappingCuration -NANDO:2200991 Autosomal recessive congenital ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:MappingCuration -NANDO:2200992 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:MappingCuration -NANDO:2200993 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:MappingCuration -NANDO:2200994 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:MappingCuration -NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:MappingCuration -NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:MappingCuration -NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:MappingCuration -NANDO:2200998 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:MappingCuration -NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:exactMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:MappingCuration -NANDO:2201000 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:MappingCuration -NANDO:2201001 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:MappingCuration -NANDO:2201002 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:MappingCuration -NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:MappingCuration -NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0021061 neurofibromatosis semapv:MappingCuration -NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:MappingCuration -NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:MappingCuration -NANDO:2201005 Anhidrotic ectodermal dysplasia skos:exactMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:MappingCuration -NANDO:2201006 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:MappingCuration -NANDO:2201007 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:MappingCuration -NANDO:2201008 Thoracic insufficiency syndrome skos:exactMatch MONDO:0015929 thoracic malformation semapv:MappingCuration -NANDO:2201009 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:MappingCuration -NANDO:2201010 Hypochondroplasia skos:exactMatch MONDO:0007793 hypochondroplasia semapv:MappingCuration -NANDO:2201011 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:MappingCuration -NANDO:2201012 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:MappingCuration -NANDO:2201013 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:MappingCuration -NANDO:2201014 Multiple cartilaginous exostosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:MappingCuration -NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:MappingCuration -NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:MappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:MappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0016068 fibrochondrogenesis semapv:MappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0022800 type 2 collagenopathy semapv:MappingCuration -NANDO:2201017 Chondrodysplasia punctata skos:exactMatch MONDO:0019701 chondrodysplasia punctata semapv:MappingCuration -NANDO:2201018 Pseudoachondroplasia skos:exactMatch MONDO:0008322 pseudoachondroplasia semapv:MappingCuration -NANDO:2201019 Larsen syndrome skos:exactMatch MONDO:0007875 Larsen syndrome semapv:MappingCuration -NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:MappingCuration -NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:MappingCuration -NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:exactMatch MONDO:0018240 TRPV4-related bone disorder semapv:MappingCuration -NANDO:2201022 Osteosclerotic diseases skos:exactMatch MONDO:0002933 osteosclerosis semapv:MappingCuration -NANDO:2201023 Pycnodysostosis skos:exactMatch MONDO:0009940 pycnodysostosis semapv:MappingCuration -NANDO:2201024 Osteopoikilosis skos:exactMatch MONDO:0001414 osteopoikilosis semapv:MappingCuration -NANDO:2201026 Beals syndrome skos:exactMatch MONDO:0007363 congenital contractural arachnodactyly semapv:MappingCuration -NANDO:2201027 Blue rubber bleb nevus syndrome skos:exactMatch MONDO:0007203 blue rubber bleb nevus semapv:MappingCuration -NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:MappingCuration -NANDO:2201031 Primary lymphedema skos:exactMatch MONDO:0019175 primary lymphedema semapv:MappingCuration -NANDO:2201032 Lymphangioma skos:exactMatch MONDO:0002013 lymphangioma semapv:MappingCuration -NANDO:2201033 Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:MappingCuration -NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:MappingCuration -NANDO:2201035 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:MappingCuration -NANDO:2201038 Bilateral retinoblastoma skos:exactMatch MONDO:0003075 bilateral retinoblastoma semapv:MappingCuration -NANDO:2201040 Bronchomalacia skos:exactMatch MONDO:0008888 Williams-Campbell syndrome semapv:MappingCuration -NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:MappingCuration -NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:exactMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:MappingCuration -NANDO:2201047 Familial pulmonary arterial hypertension skos:exactMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:MappingCuration -NANDO:2201048 Secondary pulmonary arterial hypertension skos:exactMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:MappingCuration -NANDO:2201050 Familial central diabetes insipidus skos:exactMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:MappingCuration -NANDO:2201052 Multiple endocrine neoplasia type 2A skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:MappingCuration -NANDO:2201053 Multiple endocrine neoplasia type 2B skos:exactMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:MappingCuration -NANDO:2201054 Medullary thyroid carcinoma skos:exactMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:MappingCuration -NANDO:2201055 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:MappingCuration -NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:MappingCuration -NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:MappingCuration -NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:exactMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:MappingCuration -NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:exactMatch MONDO:0011849 psoriatic arthritis semapv:MappingCuration -NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:exactMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:MappingCuration -NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:MappingCuration -NANDO:2201067 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:MappingCuration -NANDO:2201068 familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:MappingCuration -NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:MappingCuration -NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:exactMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:MappingCuration -NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:exactMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:MappingCuration -NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:exactMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:MappingCuration -NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:exactMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:MappingCuration -NANDO:2201075 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:MappingCuration -NANDO:2201076 BH4 deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:MappingCuration -NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:MappingCuration -NANDO:2201078 Classic form maple syrup urine disease skos:exactMatch MONDO:0017051 classic maple syrup urine disease semapv:MappingCuration -NANDO:2201079 Intermediate maple syrup urine disease skos:exactMatch MONDO:0017052 intermediate maple syrup urine disease semapv:MappingCuration -NANDO:2201080 Intermittent maple syrup urine disease skos:exactMatch MONDO:0017053 intermittent maple syrup urine disease semapv:MappingCuration -NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:exactMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:MappingCuration -NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:MappingCuration -NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:MappingCuration -NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016601 adult-onset citrullinemia type I semapv:MappingCuration -NANDO:2201105 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:MappingCuration -NANDO:2201106 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:MappingCuration -NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:MappingCuration -NANDO:2201108 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:MappingCuration -NANDO:2201109 Methylcobalamin deficiency cblE type skos:exactMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:MappingCuration -NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:exactMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:MappingCuration -NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:MappingCuration -NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0021915 arakawa syndrome 2 semapv:MappingCuration -NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:MappingCuration -NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:MappingCuration -NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:MappingCuration -NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:MappingCuration -NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:MappingCuration -NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:MappingCuration -NANDO:2201151 Glycogen storage disease type 0a skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:MappingCuration -NANDO:2201152 Glycogen storage disease type 0b skos:exactMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:MappingCuration -NANDO:2201153 Glycogen storage disease type 1a skos:exactMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:MappingCuration -NANDO:2201154 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:MappingCuration -NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:exactMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:MappingCuration -NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:exactMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:MappingCuration -NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:exactMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:MappingCuration -NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:exactMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:MappingCuration -NANDO:2201163 Glycogen storage disease type IV, adult form skos:exactMatch MONDO:0009897 adult polyglucosan body disease semapv:MappingCuration -NANDO:2201164 Glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:MappingCuration -NANDO:2201165 Glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:MappingCuration -NANDO:2201166 Glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:MappingCuration -NANDO:2201167 Glycogen storage disease type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:MappingCuration -NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:MappingCuration -NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0011758 Hurler syndrome semapv:MappingCuration -NANDO:2201169 Scheie disease skos:exactMatch MONDO:0011760 Scheie syndrome semapv:MappingCuration -NANDO:2201170 Hurler-Scheie disease skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:MappingCuration -NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:MappingCuration -NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:MappingCuration -NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:MappingCuration -NANDO:2201174 Mucopolysaccharidosis type III A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:MappingCuration -NANDO:2201175 Mucopolysaccharidosis type III B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:MappingCuration -NANDO:2201176 Mucopolysaccharidosis type III C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:MappingCuration -NANDO:2201177 Mucopolysaccharidosis type III D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:MappingCuration -NANDO:2201178 Mucopolysaccharidosis type IV A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:MappingCuration -NANDO:2201179 Mucopolysaccharidosis type IV B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:MappingCuration -NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:MappingCuration -NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:MappingCuration -NANDO:2201189 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:MappingCuration -NANDO:2201190 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:MappingCuration -NANDO:2201191 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:MappingCuration -NANDO:2201192 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:MappingCuration -NANDO:2201193 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:MappingCuration -NANDO:2201196 GM1 gangliosidosis, infantile form skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:MappingCuration -NANDO:2201197 GM1 gangliosidosis, juvenile form skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:MappingCuration -NANDO:2201198 GM1 gangliosidosis, adult form skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:MappingCuration -NANDO:2201199 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:MappingCuration -NANDO:2201200 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:MappingCuration -NANDO:2201201 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:MappingCuration -NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:MappingCuration -NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:MappingCuration -NANDO:2201204 Metachromatic leukodystrophy, adult form skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:MappingCuration -NANDO:2201205 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:MappingCuration -NANDO:2201206 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:MappingCuration -NANDO:2201207 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:MappingCuration -NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:MappingCuration -NANDO:2201210 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:MappingCuration -NANDO:2201211 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:MappingCuration -NANDO:2201212 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:MappingCuration -NANDO:2201216 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:MappingCuration -NANDO:2201219 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:MappingCuration -NANDO:2201229 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:MappingCuration -NANDO:2201232 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:MappingCuration -NANDO:2201233 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:MappingCuration -NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:MappingCuration -NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:MappingCuration -NANDO:2201235 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:MappingCuration -NANDO:2201236 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:MappingCuration -NANDO:2201237 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:MappingCuration -NANDO:2201238 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:MappingCuration -NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:MappingCuration -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:MappingCuration -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:MappingCuration -NANDO:2201248 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:MappingCuration -NANDO:2201255 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:MappingCuration -NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:MappingCuration -NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:MappingCuration -NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:MappingCuration -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:MappingCuration -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:MappingCuration -NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingCuration -NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingCuration -NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:MappingCuration -NANDO:2201263 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:MappingCuration -NANDO:2201264 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:MappingCuration -NANDO:2201265 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:MappingCuration -NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:MappingCuration -NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:MappingCuration -NANDO:2201267 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:MappingCuration -NANDO:2201269 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:MappingCuration -NANDO:2201270 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:MappingCuration -NANDO:2201273 α-thalassemia skos:exactMatch MONDO:0011399 alpha thalassemia semapv:MappingCuration -NANDO:2201274 β-thalassemia skos:exactMatch MONDO:0019402 beta thalassemia semapv:MappingCuration -NANDO:2201275 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:MappingCuration -NANDO:2201276 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:MappingCuration -NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:MappingCuration -NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:MappingCuration -NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:MappingCuration -NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:MappingCuration -NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:MappingCuration -NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:MappingCuration -NANDO:2201288 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:MappingCuration -NANDO:2201289 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:MappingCuration -NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:MappingCuration -NANDO:2201291 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:MappingCuration -NANDO:2201292 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:MappingCuration -NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:MappingCuration -NANDO:2201294 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:MappingCuration -NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:MappingCuration -NANDO:2201296 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:MappingCuration -NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:MappingCuration -NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:MappingCuration -NANDO:2201299 AGAT deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:MappingCuration -NANDO:2201300 GAMT deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:MappingCuration -NANDO:2201301 SLC6A8 deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:MappingCuration -NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:exactMatch MONDO:0018112 isolated scaphocephaly semapv:MappingCuration -NANDO:2201305 Non-syndromic metopic craniosynostosis skos:exactMatch MONDO:0018065 isolated trigonocephaly semapv:MappingCuration -NANDO:2201317 Anti-NMDA receptor encephalitis skos:exactMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:MappingCuration -NANDO:2201319 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:MappingCuration -NANDO:2201320 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:MappingCuration -NANDO:2201321 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:MappingCuration -NANDO:2201322 Neuromyelitis optica skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:MappingCuration -NANDO:2201341 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:MappingCuration -NANDO:2201342 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:MappingCuration -NANDO:2201343 Dystrophic epidermolysis bullosa skos:exactMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:MappingCuration -NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008702 achondrogenesis type II semapv:MappingCuration -NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:MappingCuration -NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:MappingCuration -NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0019669 hypochondrogenesis semapv:MappingCuration -NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:exactMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:MappingCuration -NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:MappingCuration -NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:MappingCuration -NANDO:2201350 Kniest dysplasia skos:exactMatch MONDO:0007987 Kniest dysplasia semapv:MappingCuration -NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:exactMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:MappingCuration -NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:MappingCuration -NANDO:2201354 Stickler syndrome type 1 skos:exactMatch MONDO:0007160 Stickler syndrome type 1 semapv:MappingCuration -NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:MappingCuration -NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:MappingCuration -NANDO:2201358 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:MappingCuration -NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:MappingCuration -NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:MappingCuration -NANDO:2201361 Greenberg dysplasia skos:exactMatch MONDO:0008974 Greenberg dysplasia semapv:MappingCuration -NANDO:2201362 Astley-Kendall dysplasia skos:exactMatch MONDO:0019408 Astley-Kendall dysplasia semapv:MappingCuration -NANDO:2201364 Melorheostosis skos:exactMatch MONDO:0007970 melorheostosis semapv:MappingCuration -NANDO:2201365 Dysosteosclerosis skos:exactMatch MONDO:0009138 dysosteosclerosis semapv:MappingCuration -NANDO:2201366 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 craniometaphyseal dysplasia semapv:MappingCuration -NANDO:2201367 Metaphyseal dysplasias skos:exactMatch MONDO:0009943 Pyle disease semapv:MappingCuration -NANDO:2201368 Craniodiaphyseal dysplasia skos:exactMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:MappingCuration -NANDO:2201369 Sclerosteosis skos:exactMatch MONDO:0017838 sclerosteosis semapv:MappingCuration -NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:MappingCuration -NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:MappingCuration -NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:MappingCuration -NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:MappingCuration -NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:MappingCuration -NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:MappingCuration -NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:MappingCuration -NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0009326 congenital heart block semapv:MappingCuration -NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:MappingCuration -NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:MappingCuration -NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:MappingCuration -NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:MappingCuration -NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:MappingCuration -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0019328 macrocystic lymphatic malformation semapv:MappingCuration -NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0007099 familial visceral amyloidosis semapv:MappingCuration -NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0007879 larynx atresia semapv:MappingCuration -NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005310 atrial flutter semapv:MappingCuration -NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0015446 atypical coarctation of aorta semapv:MappingCuration -NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:MappingCuration -NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:MappingCuration -NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:MappingCuration -NANDO:1200174 Chronic progressive external ophthalmoplegia skos:exactMatch MONDO:0005181 progressive external ophthalmoplegia semapv:MappingCuration -NANDO:1201032 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:MappingCuration -NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:MappingCuration -NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:MappingCuration -NANDO:1201035 Creatine transporter deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:MappingCuration -NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:MappingCuration -NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:MappingCuration -NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:exactMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:MappingCuration -NANDO:1201038 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:MappingCuration -NANDO:1201039 Homocystinuria type 1 skos:exactMatch MONDO:0009352 classic homocystinuria semapv:MappingCuration -NANDO:1201040 Homocystinuria type 2 skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:MappingCuration -NANDO:1201041 Homocystinuria type 3 skos:exactMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:MappingCuration -NANDO:1201042 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:MappingCuration -NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:MappingCuration -NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:MappingCuration -NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:MappingCuration -NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:MappingCuration -NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:MappingCuration -NANDO:1201048 Acquired factor X inhibitor skos:exactMatch MONDO:0021134 acquired factor X deficiency semapv:MappingCuration -NANDO:1201049 Senior-Loken syndrome skos:exactMatch MONDO:0017842 Senior-Loken syndrome semapv:MappingCuration -NANDO:1201050 COACH syndrome skos:exactMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:MappingCuration -NANDO:1201051 Oral-facial-digital syndrome skos:exactMatch MONDO:0015375 orofaciodigital syndrome semapv:MappingCuration -NANDO:1201056 End-plate acetylcholine esterase deficiency skos:exactMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:MappingCuration -NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:exactMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:MappingCuration -NANDO:1201058 RAPADILINO syndrome skos:exactMatch MONDO:0009955 rapadilino syndrome semapv:MappingCuration -NANDO:1201059 Baller-Gerold syndrome skos:exactMatch MONDO:0009039 Baller-Gerold syndrome semapv:MappingCuration -NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:MappingCuration -NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:exactMatch MONDO:0019731 AApoAI amyloidosis semapv:MappingCuration -NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:exactMatch MONDO:0007097 Finnish type amyloidosis semapv:MappingCuration -NANDO:1201064 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:MappingCuration -NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:MappingCuration -NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:MappingCuration -NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:exactMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:MappingCuration -NANDO:1201068 Agyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:MappingCuration -NANDO:1201068 Agyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:MappingCuration -NANDO:1201069 Pachygyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:MappingCuration -NANDO:1201069 Pachygyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:MappingCuration -NANDO:1201070 Subcortical band heterotopia skos:exactMatch MONDO:0020491 subcortical band heterotopia semapv:MappingCuration -NANDO:1201079 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 periventricular nodular heterotopia semapv:MappingCuration -NANDO:1201071 Polymicrogyria skos:exactMatch MONDO:0000087 polymicrogyria semapv:MappingCuration -NANDO:1201072 Cobblestone brain malformation skos:exactMatch MONDO:0018869 cobblestone lissencephaly semapv:MappingCuration -NANDO:1201073 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:MappingCuration -NANDO:1201074 Porencephaly skos:exactMatch MONDO:0017410 porencephaly semapv:MappingCuration -NANDO:1201080 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:MappingCuration -NANDO:1201081 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:MappingCuration -NANDO:1201083 Miller Dieker syndrome skos:exactMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:MappingCuration -NANDO:1201075 Pseudohypoparathyroidism type 1A skos:exactMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:MappingCuration -NANDO:1201076 Pseudohypoparathyroidism type 1B skos:exactMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:MappingCuration -NANDO:1201077 Pseudohypoparathyroidism type 1C skos:exactMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:MappingCuration -NANDO:1201078 Pseudohypoparathyroidism type 2 skos:exactMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:MappingCuration -NANDO:2201385 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:MappingCuration -NANDO:1200892 Hereditary sideroblastic anemia skos:exactMatch MONDO:0020099 inherited sideroblastic anemia semapv:MappingCuration -NANDO:1200079 Late infantile metachromatic leukodystrophy skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:MappingCuration -NANDO:1200081 Adult metachromatic leukodystrophy skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:MappingCuration -NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:MappingCuration -NANDO:1200428 Pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:MappingCuration -NANDO:1200480 Minicore myopathy skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:MappingCuration -NANDO:1200568 Focal cortical dysplasia type 2a skos:exactMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:MappingCuration -NANDO:1200569 Focal cortical dysplasia type 2b skos:exactMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:MappingCuration -NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:MappingCuration -NANDO:1200693 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:MappingCuration -NANDO:1200751 Alveolar hypoventilation syndrome skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:MappingCuration -NANDO:1200817 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:MappingCuration -NANDO:1200831 Phosphoglycerate kinase deficiency skos:exactMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:MappingCuration -NANDO:1200889 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:MappingCuration -NANDO:1200995 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:MappingCuration -NANDO:2200054 Primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:MappingCuration -NANDO:2200111 Diffuse mesangial sclerosis skos:exactMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:MappingCuration -NANDO:2200197 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:MappingCuration -NANDO:2200261 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:MappingCuration -NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:exactMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:MappingCuration -NANDO:2200355 Isolated ACTH deficiency skos:exactMatch MONDO:0008720|MONDO:0016042 semapv:MappingCuration -NANDO:2200374 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:MappingCuration -NANDO:2200384 Ovarian dysgenesis skos:exactMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:MappingCuration -NANDO:2200389 5 alpha-reductase deficiency skos:exactMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:MappingCuration -NANDO:2200425 Polyangiitis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:MappingCuration -NANDO:2200441 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:MappingCuration -NANDO:2200450 Deficiency of the enzyme ADA2 skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:MappingCuration -NANDO:2200459 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:MappingCuration -NANDO:2200603 Familial combined hyperlipidemia skos:exactMatch MONDO:0001336 familial hyperlipidemia semapv:MappingCuration -NANDO:2200610 Congenital porphyria skos:exactMatch MONDO:0019142 inherited porphyria semapv:MappingCuration -NANDO:2200613 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:MappingCuration -NANDO:2200672 Afibrinogenemia skos:exactMatch MONDO:0008737 congenital afibrinogenemia semapv:MappingCuration -NANDO:2200673 Hypoprothrombinemia skos:exactMatch MONDO:0013361 congenital prothrombin deficiency semapv:MappingCuration -NANDO:2200700 ZAP-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:MappingCuration -NANDO:2200737 STAT5b deficiency skos:exactMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:MappingCuration -NANDO:2200773 CARD9 deficiency skos:exactMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:MappingCuration -NANDO:2200788 Factor D deficiency skos:exactMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:MappingCuration -NANDO:2200790 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:MappingCuration -NANDO:2200793 MASP2 deficiency skos:exactMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:MappingCuration -NANDO:2200794 Ficolin 3 Deficiency skos:exactMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:MappingCuration -NANDO:2200798 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:MappingCuration -NANDO:2200872 Minicore myopathy skos:exactMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:MappingCuration -NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:MappingCuration -NANDO:2201268 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:MappingCuration -NANDO:2201277 Secondary aplastic anemia skos:exactMatch MONDO:0015610 acquired aplastic anemia semapv:MappingCuration -NANDO:2201351 Spondyloperipheral dysplasia skos:exactMatch MONDO:0010078 spondyloperipheral dysplasia semapv:MappingCuration +NANDO:1100001 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualManualMappingCuration +NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0004955 obsolete metabolic syndrome semapv:ManualManualMappingCuration +NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0005066 metabolic disease semapv:ManualManualMappingCuration +NANDO:1100004 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualManualMappingCuration +NANDO:1100005 Cardiovascular disease skos:exactMatch MONDO:0004995 cardiovascular disorder semapv:ManualManualMappingCuration +NANDO:1100006 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualManualMappingCuration +NANDO:1100009 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualManualMappingCuration +NANDO:1100010 Respiratory disease skos:exactMatch MONDO:0005087 respiratory system disorder semapv:ManualManualMappingCuration +NANDO:1100013 Gastrointestinal disease skos:exactMatch MONDO:0004335 digestive system disorder semapv:ManualManualMappingCuration +NANDO:1100014 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualManualMappingCuration +NANDO:1100015 Otorhinolaryngological disease skos:exactMatch MONDO:0024623 otorhinolaryngologic disease semapv:ManualManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0010735 Kennedy disease semapv:ManualManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0016113 bulbospinal muscular atrophy semapv:ManualManualMappingCuration +NANDO:1200002 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:ManualManualMappingCuration +NANDO:1200003 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualManualMappingCuration +NANDO:1200004 Spinal muscular atrophy type I skos:exactMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:ManualManualMappingCuration +NANDO:1200005 Spinal muscular atrophy type II skos:exactMatch MONDO:0009673 spinal muscular atrophy, type II semapv:ManualManualMappingCuration +NANDO:1200006 Spinal muscular atrophy type III skos:exactMatch MONDO:0009672 spinal muscular atrophy, type III semapv:ManualManualMappingCuration +NANDO:1200007 Spinal muscular atrophy type IV skos:exactMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:ManualManualMappingCuration +NANDO:1200008 Primary lateral sclerosis skos:exactMatch MONDO:0018155 lateral sclerosis semapv:ManualManualMappingCuration +NANDO:1200009 Progressive supranuclear palsy skos:exactMatch MONDO:0019037 progressive supranuclear palsy semapv:ManualManualMappingCuration +NANDO:1200010 Parkinson's disease skos:exactMatch MONDO:0005180 Parkinson disease semapv:ManualManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022308 corticobasal degeneration disorder semapv:ManualManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022880 obsolete corticobasal degeneration semapv:ManualManualMappingCuration +NANDO:1200012 Huntington's disease skos:exactMatch MONDO:0007739 Huntington disease semapv:ManualManualMappingCuration +NANDO:1200013 Neuroacanthocytosis skos:exactMatch MONDO:0016987 neuroacanthocytosis semapv:ManualManualMappingCuration +NANDO:1200014 Chorea-acanthocytosis skos:exactMatch MONDO:0008695 chorea-acanthocytosis semapv:ManualManualMappingCuration +NANDO:1200015 McLeod syndrome skos:exactMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:ManualManualMappingCuration +NANDO:1200016 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualManualMappingCuration +NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:exactMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:ManualManualMappingCuration +NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:exactMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:ManualManualMappingCuration +NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:exactMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:ManualManualMappingCuration +NANDO:1200020 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualManualMappingCuration +NANDO:1200021 Congenital myasthenic syndrome skos:exactMatch MONDO:0018940 congenital myasthenic syndrome semapv:ManualManualMappingCuration +NANDO:1200023 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualManualMappingCuration +NANDO:1200024 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualManualMappingCuration +NANDO:1200025 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualManualMappingCuration +NANDO:1200026 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualManualMappingCuration +NANDO:1200027 Neuromyelitis optica spectrum disorders skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualManualMappingCuration +NANDO:1200028 Baló concentric sclerosis skos:exactMatch MONDO:0016430 Balo concentric sclerosis semapv:ManualManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualManualMappingCuration +NANDO:1200031 Multifocal motor neuropathy skos:exactMatch MONDO:0018979 multifocal motor neuropathy semapv:ManualManualMappingCuration +NANDO:1200032 Sporadic inclusion body myositis skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualManualMappingCuration +NANDO:1200033 Crow-Fukase syndrome skos:exactMatch MONDO:0017364 POEMS syndrome semapv:ManualManualMappingCuration +NANDO:1200034 Multiple system atrophy skos:exactMatch MONDO:0007803 multiple system atrophy semapv:ManualManualMappingCuration +NANDO:1200035 Multiple system atrophy, cerebellar type skos:exactMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:ManualManualMappingCuration +NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:exactMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:ManualManualMappingCuration +NANDO:1200037 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualManualMappingCuration +NANDO:1200041 Spinocerebellar ataxia type 3 skos:exactMatch MONDO:0007182 Machado-Joseph disease semapv:ManualManualMappingCuration +NANDO:1200042 Spinocerebellar ataxia type 6 skos:exactMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:ManualManualMappingCuration +NANDO:1200043 Dentatorubropallidoluysian atrophy skos:exactMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:ManualManualMappingCuration +NANDO:1200044 Spinocerebellar ataxia type 31 skos:exactMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:ManualManualMappingCuration +NANDO:1200045 Spinocerebellar ataxia type 1 skos:exactMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:ManualManualMappingCuration +NANDO:1200046 Spinocerebellar ataxia type 2 skos:exactMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:ManualManualMappingCuration +NANDO:1200047 Spinocerebellar ataxia type 7 skos:exactMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:ManualManualMappingCuration +NANDO:1200048 Spinocerebellar ataxia type 36 skos:exactMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:ManualManualMappingCuration +NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:exactMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:ManualManualMappingCuration +NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:exactMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualManualMappingCuration +NANDO:1200052 Hereditary spastic paraplegia skos:exactMatch MONDO:0019064 hereditary spastic paraplegia semapv:ManualManualMappingCuration +NANDO:1200053 Pure hereditary spastic paraplegia skos:exactMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:ManualManualMappingCuration +NANDO:1200054 Complex hereditary spastic paraplegia skos:exactMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:ManualManualMappingCuration +NANDO:1200055 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualManualMappingCuration +NANDO:1200056 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualManualMappingCuration +NANDO:1200057 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualManualMappingCuration +NANDO:1200058 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualManualMappingCuration +NANDO:1200059 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualManualMappingCuration +NANDO:1200061 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualManualMappingCuration +NANDO:1200062 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualManualMappingCuration +NANDO:1200063 Niemann-Pick disease type C skos:exactMatch MONDO:0018982 Niemann-Pick disease type C semapv:ManualManualMappingCuration +NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualManualMappingCuration +NANDO:1200066 GM1 gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualManualMappingCuration +NANDO:1200067 Infantile GM1 gangliosidosis skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualManualMappingCuration +NANDO:1200068 Juvenile GM1 gangliosidosis skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualManualMappingCuration +NANDO:1200069 Adult GM1 gangliosidosis skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualManualMappingCuration +NANDO:1200070 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualManualMappingCuration +NANDO:1200071 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualManualMappingCuration +NANDO:1200072 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualManualMappingCuration +NANDO:1200073 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualManualMappingCuration +NANDO:1200074 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualManualMappingCuration +NANDO:1200075 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualManualMappingCuration +NANDO:1200077 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualManualMappingCuration +NANDO:1200078 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualManualMappingCuration +NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualManualMappingCuration +NANDO:1200082 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualManualMappingCuration +NANDO:1200083 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualManualMappingCuration +NANDO:1200086 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualManualMappingCuration +NANDO:1200094 Hurler syndrome skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualManualMappingCuration +NANDO:1200095 Scheie syndrome skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualManualMappingCuration +NANDO:1200096 Hurler-Scheie syndrome skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualManualMappingCuration +NANDO:1200097 Hunter syndrome skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualManualMappingCuration +NANDO:1200098 Hunter syndrome type A skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualManualMappingCuration +NANDO:1200099 Hunter syndrome type B skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualManualMappingCuration +NANDO:1200100 Sanfilippo disease skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualManualMappingCuration +NANDO:1200101 Sanfilippo disease type A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualManualMappingCuration +NANDO:1200102 Sanfilippo disease type B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualManualMappingCuration +NANDO:1200103 Sanfilippo disease type C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualManualMappingCuration +NANDO:1200104 Sanfilippo disease type D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualManualMappingCuration +NANDO:1200105 Morquio syndrome skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualManualMappingCuration +NANDO:1200106 Morquio syndrome type A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualManualMappingCuration +NANDO:1200107 Morquio syndrome type B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualManualMappingCuration +NANDO:1200108 Maroteaux-Lamy syndrome skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualManualMappingCuration +NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualManualMappingCuration +NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualManualMappingCuration +NANDO:1200111 Sly syndrome skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualManualMappingCuration +NANDO:1200115 Hyaluronidase deficiency skos:exactMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:ManualManualMappingCuration +NANDO:1200116 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualManualMappingCuration +NANDO:1200117 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualManualMappingCuration +NANDO:1200118 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualManualMappingCuration +NANDO:1200119 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualManualMappingCuration +NANDO:1200120 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualManualMappingCuration +NANDO:1200124 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualManualMappingCuration +NANDO:1200125 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualManualMappingCuration +NANDO:1200126 Alpha-mannosidosis skos:exactMatch MONDO:0009561 alpha-mannosidosis semapv:ManualManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualManualMappingCuration +NANDO:1200128 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualManualMappingCuration +NANDO:1200129 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualManualMappingCuration +NANDO:1200130 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualManualMappingCuration +NANDO:1200133 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualManualMappingCuration +NANDO:1200134 Schindler disease skos:exactMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:ManualManualMappingCuration +NANDO:1200135 Schindler disease type I skos:exactMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:ManualManualMappingCuration +NANDO:1200136 Schindler disease type 2 skos:exactMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:ManualManualMappingCuration +NANDO:1200137 Schindler disease type 3 skos:exactMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:ManualManualMappingCuration +NANDO:1200138 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualManualMappingCuration +NANDO:1200139 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualManualMappingCuration +NANDO:1200142 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualManualMappingCuration +NANDO:1200143 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualManualMappingCuration +NANDO:1200144 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualManualMappingCuration +NANDO:1200145 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualManualMappingCuration +NANDO:1200146 Free sialic acid storage disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualManualMappingCuration +NANDO:1200147 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualManualMappingCuration +NANDO:1200148 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualManualMappingCuration +NANDO:1200149 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualManualMappingCuration +NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:1200157 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualManualMappingCuration +NANDO:1200161 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualManualMappingCuration +NANDO:1200163 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualManualMappingCuration +NANDO:1200164 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualManualMappingCuration +NANDO:1200165 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualManualMappingCuration +NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualManualMappingCuration +NANDO:1200168 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualManualMappingCuration +NANDO:1200175 Leigh's encephalomyelopathy skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualManualMappingCuration +NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualManualMappingCuration +NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualManualMappingCuration +NANDO:1200178 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100133 mitochondrial complex I deficiency semapv:ManualManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:ManualManualMappingCuration +NANDO:1200181 Mitochondrial complex II deficiency skos:exactMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:ManualManualMappingCuration +NANDO:1200183 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualManualMappingCuration +NANDO:1200186 Prion disease skos:exactMatch MONDO:0005429 prion disease semapv:ManualManualMappingCuration +NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration +NANDO:1200188 Genetic prion diseases skos:exactMatch MONDO:0017234 inherited prion disease semapv:ManualManualMappingCuration +NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration +NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:ManualManualMappingCuration +NANDO:1200191 Fatal familial insomnia skos:exactMatch MONDO:0010808 fatal familial insomnia semapv:ManualManualMappingCuration +NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:exactMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration +NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration +NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration +NANDO:1200195 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration +NANDO:1200196 Typical subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration +NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration +NANDO:1200205 Progressive multifocal leukoencephalopathy skos:exactMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:ManualManualMappingCuration +NANDO:1200206 HTLV-1-associated myelopathy skos:exactMatch MONDO:0008039 tropical spastic paraparesis semapv:ManualManualMappingCuration +NANDO:1200207 Idiopathic basal ganglia calcification skos:exactMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:ManualManualMappingCuration +NANDO:1200208 Familial idiopathic basal ganglia calcification skos:exactMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:ManualManualMappingCuration +NANDO:1200209 Systemic amyloidosis skos:exactMatch MONDO:0017816 primary systemic amyloidosis semapv:ManualManualMappingCuration +NANDO:1200211 Amyloid light-chain amyloidosis skos:exactMatch MONDO:0019438 AL amyloidosis semapv:ManualManualMappingCuration +NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:exactMatch MONDO:0018018 wild type ATTR amyloidosis semapv:ManualManualMappingCuration +NANDO:1200214 Familial amyloid polyneuropathy skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualManualMappingCuration +NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualManualMappingCuration +NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:ManualManualMappingCuration +NANDO:1200216 Distal myopathy skos:exactMatch MONDO:0018949 distal myopathy semapv:ManualManualMappingCuration +NANDO:1200217 Miyoshi myopathy skos:exactMatch MONDO:0009685 Miyoshi myopathy semapv:ManualManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0011603 GNE myopathy semapv:ManualManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:ManualManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:ManualManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 oculopharyngodistal myopathy semapv:ManualManualMappingCuration +NANDO:1200220 Bethlem Myopathy skos:exactMatch MONDO:0008029 Bethlem myopathy semapv:ManualManualMappingCuration +NANDO:1200222 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualManualMappingCuration +NANDO:1200223 X-linked Myopathy with excessive autophagy skos:exactMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:ManualManualMappingCuration +NANDO:1200224 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0007039 neurofibromatosis type 2 semapv:ManualManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualManualMappingCuration +NANDO:1200228 Pemphigus skos:exactMatch MONDO:0006594 pemphigus semapv:ManualManualMappingCuration +NANDO:1200229 Pemphigus vulgaris skos:exactMatch MONDO:0008219 pemphigus vulgaris semapv:ManualManualMappingCuration +NANDO:1200230 Pemphigus foliaceus skos:exactMatch MONDO:0019324 pemphigus foliaceus semapv:ManualManualMappingCuration +NANDO:1200231 Paraneoplastic pemphigus skos:exactMatch MONDO:0018974 paraneoplastic pemphigus semapv:ManualManualMappingCuration +NANDO:1200232 Pemphigus vegetans skos:exactMatch MONDO:0019322 pemphigus vegetans semapv:ManualManualMappingCuration +NANDO:1200233 Pemphigus erythematosus skos:exactMatch MONDO:0019323 pemphigus erythematosus semapv:ManualManualMappingCuration +NANDO:1200234 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualManualMappingCuration +NANDO:1200235 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualManualMappingCuration +NANDO:1200236 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualManualMappingCuration +NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualManualMappingCuration +NANDO:1200239 Kindler syndrome skos:exactMatch MONDO:0008260 Kindler syndrome semapv:ManualManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:ManualManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualManualMappingCuration +NANDO:1200243 Impetigo herpetiformis skos:exactMatch MONDO:0004591 impetigo herpetiformis semapv:ManualManualMappingCuration +NANDO:1200244 Acrodermatitis continua of Hallopeau skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualManualMappingCuration +NANDO:1200245 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualManualMappingCuration +NANDO:1200246 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualManualMappingCuration +NANDO:1200258 Giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualManualMappingCuration +NANDO:1200259 Cranial giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualManualMappingCuration +NANDO:1200260 Large-vessel giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualManualMappingCuration +NANDO:1200261 Polyarteritis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualManualMappingCuration +NANDO:1200262 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualManualMappingCuration +NANDO:1200263 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualManualMappingCuration +NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualManualMappingCuration +NANDO:1200265 Rheumatoid vasculitis skos:exactMatch MONDO:0043267 rheumatoid vasculitis semapv:ManualManualMappingCuration +NANDO:1200266 Buerger's disease skos:exactMatch MONDO:0008889 thromboangiitis obliterans semapv:ManualManualMappingCuration +NANDO:1200267 Primary antiphospholipid antibody syndrome skos:exactMatch MONDO:0005204 primary antiphospholipid syndrome semapv:ManualManualMappingCuration +NANDO:1200270 Catastrophic antiphospholipid syndrome skos:exactMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:ManualManualMappingCuration +NANDO:1200271 Antiphospholipid antibody-related disease skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualManualMappingCuration +NANDO:1200272 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualManualMappingCuration +NANDO:1200274 Dermatomyositis skos:exactMatch MONDO:0016367 dermatomyositis semapv:ManualManualMappingCuration +NANDO:1200275 Amyopathic dermatomyositis skos:exactMatch MONDO:0043317 amyopathic dermatomyositis semapv:ManualManualMappingCuration +NANDO:1200276 Polymyositis skos:exactMatch MONDO:0019127 polymyositis semapv:ManualManualMappingCuration +NANDO:1200277 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualManualMappingCuration +NANDO:1200278 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualManualMappingCuration +NANDO:1200279 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualManualMappingCuration +NANDO:1200280 Primary Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualManualMappingCuration +NANDO:1200282 Adult Still's disease skos:exactMatch MONDO:0019355 adult-onset Still disease semapv:ManualManualMappingCuration +NANDO:1200283 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualManualMappingCuration +NANDO:1200284 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualManualMappingCuration +NANDO:1200286 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration +NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration +NANDO:1200292 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualManualMappingCuration +NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualManualMappingCuration +NANDO:1200294 Secondary restrictive cardiomyopathy skos:exactMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:ManualManualMappingCuration +NANDO:1200295 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualManualMappingCuration +NANDO:1200296 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualManualMappingCuration +NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualManualMappingCuration +NANDO:1200302 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualManualMappingCuration +NANDO:1200303 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualManualMappingCuration +NANDO:1200304 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualManualMappingCuration +NANDO:1200305 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualManualMappingCuration +NANDO:1200306 Warm antibody hemolytic anemia skos:exactMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:ManualManualMappingCuration +NANDO:1200307 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualManualMappingCuration +NANDO:1200308 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualManualMappingCuration +NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:exactMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:ManualManualMappingCuration +NANDO:1200310 Evans syndrome skos:exactMatch MONDO:0016030 Evans syndrome semapv:ManualManualMappingCuration +NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualManualMappingCuration +NANDO:1200315 Idiopathic thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualManualMappingCuration +NANDO:1200316 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration +NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration +NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration +NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration +NANDO:1200320 Primary immunodeficiency syndrome skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualManualMappingCuration +NANDO:1200321 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualManualMappingCuration +NANDO:1200322 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualManualMappingCuration +NANDO:1200323 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualManualMappingCuration +NANDO:1200324 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualManualMappingCuration +NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualManualMappingCuration +NANDO:1200326 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualManualMappingCuration +NANDO:1200327 Zap-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualManualMappingCuration +NANDO:1200328 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualManualMappingCuration +NANDO:1200329 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualManualMappingCuration +NANDO:1200330 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualManualMappingCuration +NANDO:1200331 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualManualMappingCuration +NANDO:1200332 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualManualMappingCuration +NANDO:1200333 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualManualMappingCuration +NANDO:1200334 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualManualMappingCuration +NANDO:1200336 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualManualMappingCuration +NANDO:1200337 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualManualMappingCuration +NANDO:1200338 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualManualMappingCuration +NANDO:1200340 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualManualMappingCuration +NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualManualMappingCuration +NANDO:1200342 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualManualMappingCuration +NANDO:1200343 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualManualMappingCuration +NANDO:1200344 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualManualMappingCuration +NANDO:1200345 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualManualMappingCuration +NANDO:1200346 IgG subclass deficiency skos:exactMatch MONDO:0045045 selective IgG immunodeficiency semapv:ManualManualMappingCuration +NANDO:1200347 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualManualMappingCuration +NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualManualMappingCuration +NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualManualMappingCuration +NANDO:1200350 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualManualMappingCuration +NANDO:1200351 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualManualMappingCuration +NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualManualMappingCuration +NANDO:1200353 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualManualMappingCuration +NANDO:1200354 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualManualMappingCuration +NANDO:1200355 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualManualMappingCuration +NANDO:1200356 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualManualMappingCuration +NANDO:1200357 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualManualMappingCuration +NANDO:1200358 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualManualMappingCuration +NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualManualMappingCuration +NANDO:1200361 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualManualMappingCuration +NANDO:1200362 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualManualMappingCuration +NANDO:1200363 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualManualMappingCuration +NANDO:1200364 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualManualMappingCuration +NANDO:1200366 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200367 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualManualMappingCuration +NANDO:1200368 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualManualMappingCuration +NANDO:1200369 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualManualMappingCuration +NANDO:1200371 Ossification of posterior longitudinal ligament skos:exactMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:ManualManualMappingCuration +NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:exactMatch MONDO:0005965 spinal stenosis semapv:ManualManualMappingCuration +NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:exactMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:ManualManualMappingCuration +NANDO:1200375 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualManualMappingCuration +NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualManualMappingCuration +NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:exactMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:ManualManualMappingCuration +NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:exactMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:ManualManualMappingCuration +NANDO:1200379 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualManualMappingCuration +NANDO:1200381 Central precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualManualMappingCuration +NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:exactMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualManualMappingCuration +NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:exactMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:ManualManualMappingCuration +NANDO:1200385 Growth hormone secreting pituitary adenoma skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualManualMappingCuration +NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualManualMappingCuration +NANDO:1200387 Hypopituitarism syndrome skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualManualMappingCuration +NANDO:1200388 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualManualMappingCuration +NANDO:1200390 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualManualMappingCuration +NANDO:1200394 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualManualMappingCuration +NANDO:1200396 Congenital adrenal enzyme deficiency skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualManualMappingCuration +NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualManualMappingCuration +NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:1200399 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualManualMappingCuration +NANDO:1200400 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualManualMappingCuration +NANDO:1200401 17-α-Hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualManualMappingCuration +NANDO:1200402 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration +NANDO:1200404 DAX1 abnormality skos:exactMatch MONDO:0010226 46,XY sex reversal 2 semapv:ManualManualMappingCuration +NANDO:1200405 SF-1 abnormality skos:exactMatch MONDO:0013066 46,XY sex reversal 3 semapv:ManualManualMappingCuration +NANDO:1200406 IMAge syndrome skos:exactMatch MONDO:0013873 IMAGe syndrome semapv:ManualManualMappingCuration +NANDO:1200408 MC2R deficiency skos:exactMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:ManualManualMappingCuration +NANDO:1200409 MRAP deficiency skos:exactMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:ManualManualMappingCuration +NANDO:1200410 Allgrove syndrome skos:exactMatch MONDO:0009279 triple-A syndrome semapv:ManualManualMappingCuration +NANDO:1200411 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualManualMappingCuration +NANDO:1200411 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualManualMappingCuration +NANDO:1200412 Autoimmune Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualManualMappingCuration +NANDO:1200415 Sarcoidosis skos:exactMatch MONDO:0019338 sarcoidosis semapv:ManualManualMappingCuration +NANDO:1200416 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualManualMappingCuration +NANDO:1200417 Idiopathic pulmonary fibrosis skos:exactMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:ManualManualMappingCuration +NANDO:1200419 Non-specific interstitial pneumonia skos:exactMatch MONDO:0019622 non-specific interstitial pneumonia semapv:ManualManualMappingCuration +NANDO:1200420 Acute interstitial pneumonia skos:exactMatch MONDO:0019203 acute interstitial pneumonia semapv:ManualManualMappingCuration +NANDO:1200421 Cryptogenic organizing pneumonia skos:exactMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:ManualManualMappingCuration +NANDO:1200422 Desquamative interstitial pneumonia skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualManualMappingCuration +NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualManualMappingCuration +NANDO:1200424 Lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:ManualManualMappingCuration +NANDO:1200425 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualManualMappingCuration +NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualManualMappingCuration +NANDO:1200427 Pulmonary veno-occlusive disease skos:exactMatch MONDO:0009937 pulmonary venoocclusive disease semapv:ManualManualMappingCuration +NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:exactMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:ManualManualMappingCuration +NANDO:1200430 Lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 lymphangioleiomyomatosis semapv:ManualManualMappingCuration +NANDO:1200431 Retinitis pigmentosa skos:exactMatch MONDO:0019200 retinitis pigmentosa semapv:ManualManualMappingCuration +NANDO:1200437 Budd-Chiari syndrome skos:exactMatch MONDO:0010947 Budd-Chiari syndrome semapv:ManualManualMappingCuration +NANDO:1200438 Idiopathic portal hypertension skos:exactMatch MONDO:0021969 Banti syndrome semapv:ManualManualMappingCuration +NANDO:1200439 Primary biliary cholangitis skos:exactMatch MONDO:0005388 primary biliary cholangitis semapv:ManualManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualManualMappingCuration +NANDO:1200441 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualManualMappingCuration +NANDO:1200442 Typical autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualManualMappingCuration +NANDO:1200444 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualManualMappingCuration +NANDO:1200445 small bowel Crohn disease skos:exactMatch MONDO:0005539 small bowel Crohn disease semapv:ManualManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005532 Crohn's colitis semapv:ManualManualMappingCuration +NANDO:1200447 Crohn ileocolitis skos:exactMatch MONDO:0005534 ileocolitis semapv:ManualManualMappingCuration +NANDO:1200449 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualManualMappingCuration +NANDO:1200450 Pan-ulcerative colitis skos:exactMatch MONDO:0005536 pancolitis semapv:ManualManualMappingCuration +NANDO:1200451 Left-sided colitis skos:exactMatch MONDO:0005533 distal colitis semapv:ManualManualMappingCuration +NANDO:1200454 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualManualMappingCuration +NANDO:1200456 Eosinophilic esophagitis skos:exactMatch MONDO:0005361 eosinophilic esophagitis semapv:ManualManualMappingCuration +NANDO:1200457 Eosinophilic gastroenteritis skos:exactMatch MONDO:0016129 eosinophilic gastroenteritis semapv:ManualManualMappingCuration +NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualManualMappingCuration +NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualManualMappingCuration +NANDO:1200460 Congenital isolated hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualManualMappingCuration +NANDO:1200461 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualManualMappingCuration +NANDO:1200462 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualManualMappingCuration +NANDO:1200463 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualManualMappingCuration +NANDO:1200464 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualManualMappingCuration +NANDO:1200465 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualManualMappingCuration +NANDO:1200466 Familial cold autoinflammatorysyndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualManualMappingCuration +NANDO:1200467 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualManualMappingCuration +NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualManualMappingCuration +NANDO:1200469 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualManualMappingCuration +NANDO:1200470 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualManualMappingCuration +NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualManualMappingCuration +NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualManualMappingCuration +NANDO:1200473 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualManualMappingCuration +NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualManualMappingCuration +NANDO:1200476 Blau syndrome skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualManualMappingCuration +NANDO:1200477 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualManualMappingCuration +NANDO:1200478 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualManualMappingCuration +NANDO:1200479 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualManualMappingCuration +NANDO:1200481 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualManualMappingCuration +NANDO:1200483 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualManualMappingCuration +NANDO:1200485 Marinesco-Sjogren syndrome skos:exactMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:ManualManualMappingCuration +NANDO:1200486 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualManualMappingCuration +NANDO:1200487 Dystrophinopathies skos:exactMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:ManualManualMappingCuration +NANDO:1200488 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualManualMappingCuration +NANDO:1200489 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualManualMappingCuration +NANDO:1200490 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualManualMappingCuration +NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualManualMappingCuration +NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualManualMappingCuration +NANDO:1200493 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:ManualManualMappingCuration +NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualManualMappingCuration +NANDO:1200495 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualManualMappingCuration +NANDO:1200496 Non-dystrophic myotonia skos:exactMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:ManualManualMappingCuration +NANDO:1200497 Myotonia congenita skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualManualMappingCuration +NANDO:1200498 Thomsen disease skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualManualMappingCuration +NANDO:1200499 Becker disease skos:exactMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:ManualManualMappingCuration +NANDO:1200500 Sodium channel myotonia skos:exactMatch MONDO:0018959 potassium-aggravated myotonia semapv:ManualManualMappingCuration +NANDO:1200501 Paramyotonia congenita skos:exactMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:ManualManualMappingCuration +NANDO:1200502 Hereditary periodic paralysis skos:exactMatch MONDO:0000995 familial periodic paralysis semapv:ManualManualMappingCuration +NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:exactMatch MONDO:0008223 hypokalemic periodic paralysis semapv:ManualManualMappingCuration +NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:exactMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:ManualManualMappingCuration +NANDO:1200506 Syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualManualMappingCuration +NANDO:1200507 Symptomatic syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualManualMappingCuration +NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualManualMappingCuration +NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualManualMappingCuration +NANDO:1200510 Isaacs syndrome skos:exactMatch MONDO:0019399 Isaac syndrome semapv:ManualManualMappingCuration +NANDO:1200511 Hereditary dystonia skos:exactMatch MONDO:0044807 inherited dystonia semapv:ManualManualMappingCuration +NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualManualMappingCuration +NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0044808 obsolete early onset primary dystonia semapv:ManualManualMappingCuration +NANDO:1200513 Dystonia 2 skos:exactMatch MONDO:0009141 torsion dystonia 2 semapv:ManualManualMappingCuration +NANDO:1200514 Dystonia 3 skos:exactMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:ManualManualMappingCuration +NANDO:1200515 Dystonia 4 skos:exactMatch MONDO:0007493 torsion dystonia 4 semapv:ManualManualMappingCuration +NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0007495 dystonia 5 semapv:ManualManualMappingCuration +NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualManualMappingCuration +NANDO:1200517 Dystonia 6 skos:exactMatch MONDO:0011264 torsion dystonia 6 semapv:ManualManualMappingCuration +NANDO:1200518 Dystonia 7 skos:exactMatch MONDO:0011200 torsion dystonia 7 semapv:ManualManualMappingCuration +NANDO:1200519 Dystonia 8 skos:exactMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualManualMappingCuration +NANDO:1200520 Dystonia 9 skos:exactMatch MONDO:0010983 dystonia 9 semapv:ManualManualMappingCuration +NANDO:1200521 Dystonia 10 skos:exactMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:ManualManualMappingCuration +NANDO:1200522 Dystonia 11 skos:exactMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:ManualManualMappingCuration +NANDO:1200523 Dystonia 12 skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualManualMappingCuration +NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualManualMappingCuration +NANDO:1200525 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration +NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:exactMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:ManualManualMappingCuration +NANDO:1200527 Dystonia 13 skos:exactMatch MONDO:0011886 torsion dystonia 13 semapv:ManualManualMappingCuration +NANDO:1200528 Dystonia 15 skos:exactMatch MONDO:0011844 myoclonic dystonia 15 semapv:ManualManualMappingCuration +NANDO:1200529 Dystonia 16 skos:exactMatch MONDO:0012789 dystonia 16 semapv:ManualManualMappingCuration +NANDO:1200530 Dystonia 17 skos:exactMatch MONDO:0012895 torsion dystonia 17 semapv:ManualManualMappingCuration +NANDO:1200531 Dystonia 18 skos:exactMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:ManualManualMappingCuration +NANDO:1200532 Dystonia 19 skos:exactMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:ManualManualMappingCuration +NANDO:1200533 Dystonia 20 skos:exactMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualManualMappingCuration +NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualManualMappingCuration +NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:ManualManualMappingCuration +NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:ManualManualMappingCuration +NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:exactMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:ManualManualMappingCuration +NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:exactMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:ManualManualMappingCuration +NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:ManualManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:ManualManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:ManualManualMappingCuration +NANDO:1200542 Neuroferritinopathy skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualManualMappingCuration +NANDO:1200543 Superficial siderosis skos:exactMatch MONDO:0016594 superficial siderosis semapv:ManualManualMappingCuration +NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0010829 CARASIL syndrome semapv:ManualManualMappingCuration +NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:exactMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:ManualManualMappingCuration +NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:exactMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:ManualManualMappingCuration +NANDO:1200547 Perry syndrome skos:exactMatch MONDO:0008201 Perry syndrome semapv:ManualManualMappingCuration +NANDO:1200548 Frontotemporal lobar degeneration skos:exactMatch MONDO:0017276 frontotemporal dementia semapv:ManualManualMappingCuration +NANDO:1200549 Behavioral variant frontotemporal dementia skos:exactMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:ManualManualMappingCuration +NANDO:1200550 Semantic dementia skos:exactMatch MONDO:0010857 semantic dementia semapv:ManualManualMappingCuration +NANDO:1200551 Bickerstaff's brainstem encephalitis skos:exactMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:ManualManualMappingCuration +NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualManualMappingCuration +NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualManualMappingCuration +NANDO:1200554 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualManualMappingCuration +NANDO:1200555 Alexander disease type I skos:exactMatch MONDO:0018209 Alexander disease type I semapv:ManualManualMappingCuration +NANDO:1200556 Alexander disease type II skos:exactMatch MONDO:0018210 Alexander disease type II semapv:ManualManualMappingCuration +NANDO:1200558 Congenital suprabulbar paresis skos:exactMatch MONDO:0008503 Worster-Drought syndrome semapv:ManualManualMappingCuration +NANDO:1200559 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualManualMappingCuration +NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:ManualManualMappingCuration +NANDO:1200562 Aicardi syndrome skos:exactMatch MONDO:0010568 Aicardi syndrome semapv:ManualManualMappingCuration +NANDO:1200563 Hemimegalencephaly skos:exactMatch MONDO:0020492 hemimegalencephaly semapv:ManualManualMappingCuration +NANDO:1200564 Focal cortical dysplasia skos:exactMatch MONDO:0019009 isolated focal cortical dysplasia semapv:ManualManualMappingCuration +NANDO:1200565 Focal cortical dysplasia type 1a skos:exactMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:ManualManualMappingCuration +NANDO:1200566 Focal cortical dysplasia type 1b skos:exactMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:ManualManualMappingCuration +NANDO:1200567 Focal cortical dysplasia type 1c skos:exactMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:ManualManualMappingCuration +NANDO:1200574 Neuronal migration defects skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualManualMappingCuration +NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualManualMappingCuration +NANDO:1200576 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualManualMappingCuration +NANDO:1200577 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualManualMappingCuration +NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualManualMappingCuration +NANDO:1200579 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualManualMappingCuration +NANDO:1200580 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualManualMappingCuration +NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualManualMappingCuration +NANDO:1200582 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualManualMappingCuration +NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualManualMappingCuration +NANDO:1200584 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualManualMappingCuration +NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualManualMappingCuration +NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualManualMappingCuration +NANDO:1200587 Dravet syndrome skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualManualMappingCuration +NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:exactMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:ManualManualMappingCuration +NANDO:1200589 Myoclonic absence epilepsy skos:exactMatch MONDO:0019487 epilepsy with myoclonic absences semapv:ManualManualMappingCuration +NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:exactMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:ManualManualMappingCuration +NANDO:1200591 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualManualMappingCuration +NANDO:1200592 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualManualMappingCuration +NANDO:1200593 Ohtahara syndrome skos:exactMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:ManualManualMappingCuration +NANDO:1200594 Early myoclonic encephalopathy skos:exactMatch MONDO:0016022 early myoclonic encephalopathy semapv:ManualManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:ManualManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:ManualManualMappingCuration +NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:exactMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:ManualManualMappingCuration +NANDO:1200597 Ring chromosome 20 syndrome skos:exactMatch MONDO:0015436 ring chromosome 20 semapv:ManualManualMappingCuration +NANDO:1200598 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualManualMappingCuration +NANDO:1200599 PCDH19-related syndrome skos:exactMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:ManualManualMappingCuration +NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0019123 continuous spikes and waves during sleep semapv:ManualManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:ManualManualMappingCuration +NANDO:1200602 Landau-Kleffner syndrome skos:exactMatch MONDO:0009509 Landau-Kleffner syndrome semapv:ManualManualMappingCuration +NANDO:1200603 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualManualMappingCuration +NANDO:1200604 Typical Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualManualMappingCuration +NANDO:1200605 Atypical Rett syndrome skos:exactMatch MONDO:0017746 atypical Rett syndrome semapv:ManualManualMappingCuration +NANDO:1200606 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualManualMappingCuration +NANDO:1200608 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualManualMappingCuration +NANDO:1200609 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualManualMappingCuration +NANDO:1200610 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualManualMappingCuration +NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualManualMappingCuration +NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualManualMappingCuration +NANDO:1200613 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualManualMappingCuration +NANDO:1200614 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualManualMappingCuration +NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualManualMappingCuration +NANDO:1200616 Congenital ichthyosiform erythroderma skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0017778 lamellar ichthyosis semapv:ManualManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualManualMappingCuration +NANDO:1200618 Ichthyosis syndrome skos:exactMatch MONDO:0019269 ichthyosis semapv:ManualManualMappingCuration +NANDO:1200619 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualManualMappingCuration +NANDO:1200620 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualManualMappingCuration +NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualManualMappingCuration +NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualManualMappingCuration +NANDO:1200624 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualManualMappingCuration +NANDO:1200625 Recessive X-linked ichtyosis skos:exactMatch MONDO:0010622 recessive X-linked ichthyosis semapv:ManualManualMappingCuration +NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:exactMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:ManualManualMappingCuration +NANDO:1200627 Trichothiodystrophy skos:exactMatch MONDO:0018053 trichothiodystrophy semapv:ManualManualMappingCuration +NANDO:1200628 Ichthyosis follicularis skos:exactMatch MONDO:0043094 ichthyosis, follicular semapv:ManualManualMappingCuration +NANDO:1200629 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualManualMappingCuration +NANDO:1200630 Conradi Hünermann Happle syndrome skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualManualMappingCuration +NANDO:1200631 Benign familial pemphigus skos:exactMatch MONDO:0008218 Hailey-Hailey disease semapv:ManualManualMappingCuration +NANDO:1200633 Bullous pemphigoid skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualManualMappingCuration +NANDO:1200634 Mucous membrane pemphigoid skos:exactMatch MONDO:0018746 mucous membrane pemphigoid semapv:ManualManualMappingCuration +NANDO:1200635 Epidermolysis bullosa acquisita skos:exactMatch MONDO:0018747 acquired epidermolysis bullosa semapv:ManualManualMappingCuration +NANDO:1200637 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualManualMappingCuration +NANDO:1200638 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:ManualManualMappingCuration +NANDO:1200639 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualManualMappingCuration +NANDO:1200640 Griscelli syndrome skos:exactMatch MONDO:0018306 Griscelli syndrome semapv:ManualManualMappingCuration +NANDO:1200641 Non-syndromic oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualManualMappingCuration +NANDO:1200643 Pseudoxanthoma elasticum skos:exactMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:ManualManualMappingCuration +NANDO:1200644 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualManualMappingCuration +NANDO:1200645 Ehlers-Danlos Syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualManualMappingCuration +NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualManualMappingCuration +NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualManualMappingCuration +NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualManualMappingCuration +NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualManualMappingCuration +NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualManualMappingCuration +NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualManualMappingCuration +NANDO:1200653 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualManualMappingCuration +NANDO:1200654 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualManualMappingCuration +NANDO:1200655 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualManualMappingCuration +NANDO:1200656 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualManualMappingCuration +NANDO:1200657 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualManualMappingCuration +NANDO:1200658 Nasu-Hakola disease skos:exactMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:ManualManualMappingCuration +NANDO:1200659 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualManualMappingCuration +NANDO:1200660 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualManualMappingCuration +NANDO:1200661 Joubert syndrome and related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualManualMappingCuration +NANDO:1200662 Arima syndrome skos:exactMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:ManualManualMappingCuration +NANDO:1200663 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualManualMappingCuration +NANDO:1200664 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualManualMappingCuration +NANDO:1200665 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualManualMappingCuration +NANDO:1200666 Crouzon's syndrome skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualManualMappingCuration +NANDO:1200667 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualManualMappingCuration +NANDO:1200669 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualManualMappingCuration +NANDO:1200670 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualManualMappingCuration +NANDO:1200671 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:ManualManualMappingCuration +NANDO:1200672 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0007029 branchio-oto-renal syndrome semapv:ManualManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0018878 branchiootic syndrome semapv:ManualManualMappingCuration +NANDO:1200676 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualManualMappingCuration +NANDO:1200677 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualManualMappingCuration +NANDO:1200678 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualManualMappingCuration +NANDO:1200679 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualManualMappingCuration +NANDO:1200680 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualManualMappingCuration +NANDO:1200681 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualManualMappingCuration +NANDO:1200682 1p36 deletion syndrome skos:exactMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:ManualManualMappingCuration +NANDO:1200683 4p deletion syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualManualMappingCuration +NANDO:1200684 5p deletion syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualManualMappingCuration +NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:exactMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:ManualManualMappingCuration +NANDO:1200686 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualManualMappingCuration +NANDO:1200687 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualManualMappingCuration +NANDO:1200689 Emanuel syndrome skos:exactMatch MONDO:0012176 Emanuel syndrome semapv:ManualManualMappingCuration +NANDO:1200690 Fragile X syndrome related diseases skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualManualMappingCuration +NANDO:1200691 Fragile X tremor/ataxia syndrome skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualManualMappingCuration +NANDO:1200692 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualManualMappingCuration +NANDO:1200698 Corrected transposition of great arteries skos:exactMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:ManualManualMappingCuration +NANDO:1200699 Complete transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration +NANDO:1200704 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualManualMappingCuration +NANDO:1200705 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualManualMappingCuration +NANDO:1200706 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualManualMappingCuration +NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualManualMappingCuration +NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualManualMappingCuration +NANDO:1200709 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualManualMappingCuration +NANDO:1200710 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualManualMappingCuration +NANDO:1200711 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualManualMappingCuration +NANDO:1200712 Alport's syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualManualMappingCuration +NANDO:1200713 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualManualMappingCuration +NANDO:1200718 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualManualMappingCuration +NANDO:1200719 Primary nephrotic syndrome skos:exactMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:ManualManualMappingCuration +NANDO:1200720 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualManualMappingCuration +NANDO:1200721 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200722 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration +NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:exactMatch MONDO:0019736 dense deposit disease semapv:ManualManualMappingCuration +NANDO:1200741 Henoch-Schonlein purpura nephritis skos:exactMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:ManualManualMappingCuration +NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualManualMappingCuration +NANDO:1200743 Interstitial cystitis (Hunner type) skos:exactMatch MONDO:0018301 interstitial cystitis semapv:ManualManualMappingCuration +NANDO:1200744 Osler disease skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualManualMappingCuration +NANDO:1200745 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:ManualManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualManualMappingCuration +NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualManualMappingCuration +NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualManualMappingCuration +NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:exactMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:ManualManualMappingCuration +NANDO:1200750 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualManualMappingCuration +NANDO:1200752 Obesity hypoventilation syndrome skos:exactMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:ManualManualMappingCuration +NANDO:1200753 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualManualMappingCuration +NANDO:1200755 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualManualMappingCuration +NANDO:1200756 Carney complex skos:exactMatch MONDO:0015285 Carney complex semapv:ManualManualMappingCuration +NANDO:1200757 Wolfram syndrome skos:exactMatch MONDO:0018105 Wolfram syndrome semapv:ManualManualMappingCuration +NANDO:1200758 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualManualMappingCuration +NANDO:1200759 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualManualMappingCuration +NANDO:1200760 Zellweger syndrome skos:exactMatch MONDO:0019609 Zellweger spectrum disorders semapv:ManualManualMappingCuration +NANDO:1200761 Neonatal adrenoleukodystrophy skos:exactMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:ManualManualMappingCuration +NANDO:1200762 Infantile Refsum disease skos:exactMatch MONDO:0019174 obsolete infantile Refsum disease semapv:ManualManualMappingCuration +NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:ManualManualMappingCuration +NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:exactMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:ManualManualMappingCuration +NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:ManualManualMappingCuration +NANDO:1200766 D-bifunctional protein deficiency skos:exactMatch MONDO:0009855 d-bifunctional protein deficiency semapv:ManualManualMappingCuration +NANDO:1200767 Sterol carrier protein 2 deficiency skos:exactMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:ManualManualMappingCuration +NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:exactMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:ManualManualMappingCuration +NANDO:1200769 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualManualMappingCuration +NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:exactMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:ManualManualMappingCuration +NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:ManualManualMappingCuration +NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:ManualManualMappingCuration +NANDO:1200773 Primary hyperoxaluria type 1 skos:exactMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:ManualManualMappingCuration +NANDO:1200774 Acatalasemia skos:exactMatch MONDO:0013571 acatalasia semapv:ManualManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualManualMappingCuration +NANDO:1200776 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualManualMappingCuration +NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:ManualManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:ManualManualMappingCuration +NANDO:1200780 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualManualMappingCuration +NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualManualMappingCuration +NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:exactMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:ManualManualMappingCuration +NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:exactMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:ManualManualMappingCuration +NANDO:1200784 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualManualMappingCuration +NANDO:1200785 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualManualMappingCuration +NANDO:1200786 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualManualMappingCuration +NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualManualMappingCuration +NANDO:1200788 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualManualMappingCuration +NANDO:1200789 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualManualMappingCuration +NANDO:1200790 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualManualMappingCuration +NANDO:1200791 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualManualMappingCuration +NANDO:1200792 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualManualMappingCuration +NANDO:1200793 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualManualMappingCuration +NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:exactMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualManualMappingCuration +NANDO:1200795 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualManualMappingCuration +NANDO:1200796 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualManualMappingCuration +NANDO:1200797 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualManualMappingCuration +NANDO:1200798 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:ManualManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualManualMappingCuration +NANDO:1200800 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:1200801 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:1200802 Urea cycle disorder skos:exactMatch MONDO:0004739 urea cycle disorder semapv:ManualManualMappingCuration +NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualManualMappingCuration +NANDO:1200804 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualManualMappingCuration +NANDO:1200805 Classic citrullinemia skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualManualMappingCuration +NANDO:1200806 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualManualMappingCuration +NANDO:1200807 Argininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualManualMappingCuration +NANDO:1200808 NAGS deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualManualMappingCuration +NANDO:1200809 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualManualMappingCuration +NANDO:1200810 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualManualMappingCuration +NANDO:1200811 Porphyria skos:exactMatch MONDO:0037939 porphyria semapv:ManualManualMappingCuration +NANDO:1200812 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualManualMappingCuration +NANDO:1200813 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualManualMappingCuration +NANDO:1200814 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:ManualManualMappingCuration +NANDO:1200816 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualManualMappingCuration +NANDO:1200818 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualManualMappingCuration +NANDO:1200819 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualManualMappingCuration +NANDO:1200820 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualManualMappingCuration +NANDO:1200821 Holocarboxylase synthetase deficiency skos:exactMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:ManualManualMappingCuration +NANDO:1200822 Biotinidase deficiency skos:exactMatch MONDO:0009665 biotinidase deficiency semapv:ManualManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0016118 obsolete muscular glycogenosis semapv:ManualManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:ManualManualMappingCuration +NANDO:1200825 Glycogen storage diseases type II skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualManualMappingCuration +NANDO:1200826 Glycogen storage diseases type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0008222 Andersen-Tawil syndrome semapv:ManualManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualManualMappingCuration +NANDO:1200828 Glycogen storage diseases type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualManualMappingCuration +NANDO:1200829 Glycogen storage diseases type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualManualMappingCuration +NANDO:1200830 Glycogen storage diseases type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualManualMappingCuration +NANDO:1200832 Glycogen storage diseases type X skos:exactMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:ManualManualMappingCuration +NANDO:1200833 Glycogen storage diseases type XI skos:exactMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:ManualManualMappingCuration +NANDO:1200834 Glycogen storage diseases type XII skos:exactMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:ManualManualMappingCuration +NANDO:1200835 Glycogen storage diseases type XIII skos:exactMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:ManualManualMappingCuration +NANDO:1200836 Glycogen storage diseases type XIV skos:exactMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:ManualManualMappingCuration +NANDO:1200837 Glycogen storage diseases type XV skos:exactMatch MONDO:0013291 glycogen storage disease XV semapv:ManualManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0002412 disorder of glycogen metabolism semapv:ManualManualMappingCuration +NANDO:1200840 Hepatic glycogen storage disease type Ia skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:ManualManualMappingCuration +NANDO:1200844 Hepatic GSD type IIIc skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualManualMappingCuration +NANDO:1200846 Hepatic glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualManualMappingCuration +NANDO:1200847 Hepatic glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualManualMappingCuration +NANDO:1200848 Hepatic glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualManualMappingCuration +NANDO:1200849 Hepatic glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualManualMappingCuration +NANDO:1200850 Hepatic glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualManualMappingCuration +NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0009515 Norum disease semapv:ManualManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0018999 LCAT deficiency semapv:ManualManualMappingCuration +NANDO:1200853 Sitosterolemia skos:exactMatch MONDO:0008863 sitosterolemia semapv:ManualManualMappingCuration +NANDO:1200854 Tangier disease skos:exactMatch MONDO:0008783 Tangier disease semapv:ManualManualMappingCuration +NANDO:1200856 Cerebrotendinous xanthomatosis skos:exactMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:ManualManualMappingCuration +NANDO:1200857 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualManualMappingCuration +NANDO:1200858 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0006536 congenital generalized lipodystrophy semapv:ManualManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualManualMappingCuration +NANDO:1200860 Acquired generalized lipodystrophy skos:exactMatch MONDO:0019193 acquired generalized lipodystrophy semapv:ManualManualMappingCuration +NANDO:1200861 Familial partial lipodystrophy skos:exactMatch MONDO:0020088 familial partial lipodystrophy semapv:ManualManualMappingCuration +NANDO:1200862 Acquired partial lipodystrophy skos:exactMatch MONDO:0012104 acquired partial lipodystrophy semapv:ManualManualMappingCuration +NANDO:1200863 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualManualMappingCuration +NANDO:1200864 Typical familial Mediterranean fever skos:exactMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:ManualManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0012481 mevalonic aciduria semapv:ManualManualMappingCuration +NANDO:1200867 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualManualMappingCuration +NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualManualMappingCuration +NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualManualMappingCuration +NANDO:1200870 Ankylosing spondylitis skos:exactMatch MONDO:0005306 ankylosing spondylitis semapv:ManualManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualManualMappingCuration +NANDO:1200873 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualManualMappingCuration +NANDO:1200874 Thanatophoric dysplasia skos:exactMatch MONDO:0017042 thanatophoric dysplasia semapv:ManualManualMappingCuration +NANDO:1200875 Thanatophoric dysplasia type 1 skos:exactMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:ManualManualMappingCuration +NANDO:1200876 Thanatophoric dysplasia type 2 skos:exactMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:ManualManualMappingCuration +NANDO:1200877 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualManualMappingCuration +NANDO:1200879 obsolete Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:ManualManualMappingCuration +NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualManualMappingCuration +NANDO:1200885 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualManualMappingCuration +NANDO:1200886 Congenital dyserythropoietic anemia type I skos:exactMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:ManualManualMappingCuration +NANDO:1200887 Congenital dyserythropoietic anemia type II skos:exactMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:ManualManualMappingCuration +NANDO:1200888 Congenital dyserythropoietic anemia type III skos:exactMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:ManualManualMappingCuration +NANDO:1200890 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualManualMappingCuration +NANDO:1200891 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualManualMappingCuration +NANDO:1200893 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualManualMappingCuration +NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:exactMatch MONDO:0020599 acquired coagulation factor deficiency semapv:ManualManualMappingCuration +NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:exactMatch MONDO:0021133 acquired factor XIII deficiency semapv:ManualManualMappingCuration +NANDO:1200898 Acquired hemophilia A skos:exactMatch MONDO:0019139 acquired hemophilia semapv:ManualManualMappingCuration +NANDO:1200899 Acquired von Willebrand disease skos:exactMatch MONDO:0020460 acquired von willebrand syndrome semapv:ManualManualMappingCuration +NANDO:1200901 Cronkhite-Canada syndrome skos:exactMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:ManualManualMappingCuration +NANDO:1200903 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualManualMappingCuration +NANDO:1200909 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualManualMappingCuration +NANDO:1200910 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualManualMappingCuration +NANDO:1200911 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualManualMappingCuration +NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualManualMappingCuration +NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualManualMappingCuration +NANDO:1200918 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualManualMappingCuration +NANDO:1200919 Typical Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualManualMappingCuration +NANDO:1200921 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualManualMappingCuration +NANDO:1200922 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualManualMappingCuration +NANDO:1200923 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualManualMappingCuration +NANDO:1200924 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualManualMappingCuration +NANDO:1200925 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualManualMappingCuration +NANDO:1200928 IgG4-related sclerosing cholangitis skos:exactMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:ManualManualMappingCuration +NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:ManualManualMappingCuration +NANDO:1200930 IgG4-related kidney disease skos:exactMatch MONDO:0018671 IgG4-related kidney disease semapv:ManualManualMappingCuration +NANDO:1200931 Macular dystrophy skos:exactMatch MONDO:0020242 hereditary macular dystrophy semapv:ManualManualMappingCuration +NANDO:1200932 Vitelliform macular dystrophy skos:exactMatch MONDO:0000390 vitelliform macular dystrophy semapv:ManualManualMappingCuration +NANDO:1200933 Stargardt disease skos:exactMatch MONDO:0019353 Stargardt disease semapv:ManualManualMappingCuration +NANDO:1200934 Occult macular dystrophy skos:exactMatch MONDO:0013316 occult macular dystrophy semapv:ManualManualMappingCuration +NANDO:1200936 Cone dystrophy skos:exactMatch MONDO:0000455 cone dystrophy semapv:ManualManualMappingCuration +NANDO:1200937 Cone-rod dystrophy skos:exactMatch MONDO:0015993 cone-rod dystrophy semapv:ManualManualMappingCuration +NANDO:1200938 X-linked juvenile retinoschisis skos:exactMatch MONDO:0010725 X-linked retinoschisis semapv:ManualManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0004890 partial central choroid dystrophy semapv:ManualManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0008982 central areolar choroidal dystrophy semapv:ManualManualMappingCuration +NANDO:1200940 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualManualMappingCuration +NANDO:1200941 Usher syndrome skos:exactMatch MONDO:0019501 Usher syndrome semapv:ManualManualMappingCuration +NANDO:1200942 Usher syndrome type I skos:exactMatch MONDO:0010168 Usher syndrome type 1 semapv:ManualManualMappingCuration +NANDO:1200943 Usher syndrome Type II skos:exactMatch MONDO:0016484 Usher syndrome type 2 semapv:ManualManualMappingCuration +NANDO:1200944 Usher syndrome Type III skos:exactMatch MONDO:0016485 Usher syndrome type 3 semapv:ManualManualMappingCuration +NANDO:1200948 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualManualMappingCuration +NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualManualMappingCuration +NANDO:1200951 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualManualMappingCuration +NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:ManualManualMappingCuration +NANDO:1200953 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualManualMappingCuration +NANDO:1200954 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualManualMappingCuration +NANDO:1200955 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualManualMappingCuration +NANDO:1200956 Benign adult familial myoclonus epilepsy skos:exactMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:ManualManualMappingCuration +NANDO:1200957 Congenital anomalies syndrome skos:exactMatch MONDO:0000839 obsolete congenital abnormality semapv:ManualManualMappingCuration +NANDO:1200958 Partial trisomy 1q skos:exactMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:ManualManualMappingCuration +NANDO:1200959 9q34 deletion syndrome skos:exactMatch MONDO:0012455 Kleefstra syndrome semapv:ManualManualMappingCuration +NANDO:1200960 Cornelia de lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualManualMappingCuration +NANDO:1200961 Smith-lemli-opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0019813 congenital tricuspid stenosis semapv:ManualManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0020398 congenital mitral stenosis semapv:ManualManualMappingCuration +NANDO:1200964 Congenital pulmonary vein stenosis skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualManualMappingCuration +NANDO:1200967 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualManualMappingCuration +NANDO:1200969 Carnitine cycle disorders skos:exactMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:ManualManualMappingCuration +NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualManualMappingCuration +NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualManualMappingCuration +NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualManualMappingCuration +NANDO:1200973 Systemic primary carnitine deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualManualMappingCuration +NANDO:1200974 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualManualMappingCuration +NANDO:1200978 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualManualMappingCuration +NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:exactMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:ManualManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:ManualManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0016603 citrullinemia type II semapv:ManualManualMappingCuration +NANDO:1200982 Sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:ManualManualMappingCuration +NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:exactMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:ManualManualMappingCuration +NANDO:1200984 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualManualMappingCuration +NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:exactMatch MONDO:0017353 neonatal glycine encephalopathy semapv:ManualManualMappingCuration +NANDO:1200986 Infantile nonketotic hyperglycinemia skos:exactMatch MONDO:0017354 infantile glycine encephalopathy semapv:ManualManualMappingCuration +NANDO:1200987 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualManualMappingCuration +NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualManualMappingCuration +NANDO:1200989 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualManualMappingCuration +NANDO:1200990 3-methylglutaconic aciduria type I skos:exactMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:ManualManualMappingCuration +NANDO:1200991 3-methylglutaconicaciduria type II skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualManualMappingCuration +NANDO:1200992 3-methylglutaconic aciduria type III skos:exactMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:ManualManualMappingCuration +NANDO:1200994 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualManualMappingCuration +NANDO:1200996 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualManualMappingCuration +NANDO:1200997 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualManualMappingCuration +NANDO:1200998 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualManualMappingCuration +NANDO:1201000 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 anterior segment dysgenesis semapv:ManualManualMappingCuration +NANDO:1201001 Aniridia skos:exactMatch MONDO:0019172 aniridia semapv:ManualManualMappingCuration +NANDO:1201003 Congenital tracheal stenosis skos:exactMatch MONDO:0011340 congenital tracheal stenosis semapv:ManualManualMappingCuration +NANDO:1201004 Congenital subglottic stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualManualMappingCuration +NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:exactMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:ManualManualMappingCuration +NANDO:1201007 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualManualMappingCuration +NANDO:1201009 Systemic granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualManualMappingCuration +NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:exactMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:ManualManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:ManualManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0019563 CREST syndrome semapv:ManualManualMappingCuration +NANDO:1201018 Hepatic glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualManualMappingCuration +NANDO:1201019 Hepatic glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualManualMappingCuration +NANDO:1201020 Hepatic glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualManualMappingCuration +NANDO:1201021 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualManualMappingCuration +NANDO:1201029 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualManualMappingCuration +NANDO:2100002 Leukemia skos:exactMatch MONDO:0004355 childhood leukemia semapv:ManualManualMappingCuration +NANDO:2100002 Leukemia skos:exactMatch MONDO:0005059 leukemia semapv:ManualManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualManualMappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003659 pediatric lymphoma semapv:ManualManualMappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003660 adult lymphoma semapv:ManualManualMappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0005062 lymphoma semapv:ManualManualMappingCuration +NANDO:2100005 Histiocytosis skos:exactMatch MONDO:0002637 histiocytosis semapv:ManualManualMappingCuration +NANDO:2100007 Central nervous system tumors skos:exactMatch MONDO:0002714 central nervous system cancer semapv:ManualManualMappingCuration +NANDO:2100008 Chronic kidney disease skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualManualMappingCuration +NANDO:2100009 Nephrotic syndrome skos:exactMatch MONDO:0005377 nephrotic syndrome semapv:ManualManualMappingCuration +NANDO:2100012 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualManualMappingCuration +NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualManualMappingCuration +NANDO:2100015 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualManualMappingCuration +NANDO:2100019 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualManualMappingCuration +NANDO:2100020 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualManualMappingCuration +NANDO:2100021 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualManualMappingCuration +NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualManualMappingCuration +NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0024327 chronic renal failure syndrome semapv:ManualManualMappingCuration +NANDO:2100027 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualManualMappingCuration +NANDO:2100028 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualManualMappingCuration +NANDO:2100031 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualManualMappingCuration +NANDO:2100032 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualManualMappingCuration +NANDO:2100034 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualManualMappingCuration +NANDO:2100035 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualManualMappingCuration +NANDO:2100036 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualManualMappingCuration +NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualManualMappingCuration +NANDO:2100039 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualManualMappingCuration +NANDO:2100040 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualManualMappingCuration +NANDO:2100043 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualManualMappingCuration +NANDO:2100044 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualManualMappingCuration +NANDO:2100046 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualManualMappingCuration +NANDO:2100049 Ventricular tachycardia skos:exactMatch MONDO:0005477 ventricular tachycardia semapv:ManualManualMappingCuration +NANDO:2100050 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualManualMappingCuration +NANDO:2100051 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualManualMappingCuration +NANDO:2100052 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualManualMappingCuration +NANDO:2100053 Long QT syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualManualMappingCuration +NANDO:2100054 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration +NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualManualMappingCuration +NANDO:2100057 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualManualMappingCuration +NANDO:2100058 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualManualMappingCuration +NANDO:2100060 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualManualMappingCuration +NANDO:2100061 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualManualMappingCuration +NANDO:2100064 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualManualMappingCuration +NANDO:2100070 Ischemic heart disease skos:exactMatch MONDO:0024644 myocardial ischemia semapv:ManualManualMappingCuration +NANDO:2100071 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualManualMappingCuration +NANDO:2100073 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualManualMappingCuration +NANDO:2100075 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualManualMappingCuration +NANDO:2100076 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualManualMappingCuration +NANDO:2100077 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualManualMappingCuration +NANDO:2100079 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration +NANDO:2100080 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualManualMappingCuration +NANDO:2100082 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualManualMappingCuration +NANDO:2100083 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualManualMappingCuration +NANDO:2100084 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualManualMappingCuration +NANDO:2100085 Atrial septal defect skos:exactMatch MONDO:0006664 atrial septal defect semapv:ManualManualMappingCuration +NANDO:2100086 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualManualMappingCuration +NANDO:2100087 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualManualMappingCuration +NANDO:2100090 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualManualMappingCuration +NANDO:2100092 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualManualMappingCuration +NANDO:2100093 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualManualMappingCuration +NANDO:2100095 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualManualMappingCuration +NANDO:2100098 Aortic stenosis skos:exactMatch MONDO:0004978 obsolete aortic stenosis semapv:ManualManualMappingCuration +NANDO:2100101 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualManualMappingCuration +NANDO:2100103 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualManualMappingCuration +NANDO:2100105 Valvular heart disease skos:exactMatch MONDO:0002869 heart valve disorder semapv:ManualManualMappingCuration +NANDO:2100109 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualManualMappingCuration +NANDO:2100110 Hypopituitarism skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualManualMappingCuration +NANDO:2100111 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualManualMappingCuration +NANDO:2100112 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualManualMappingCuration +NANDO:2100114 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualManualMappingCuration +NANDO:2100115 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualManualMappingCuration +NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualManualMappingCuration +NANDO:2100117 Diabetes insipidus skos:exactMatch MONDO:0004782 diabetes insipidus semapv:ManualManualMappingCuration +NANDO:2100119 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualManualMappingCuration +NANDO:2100120 Hypothyroidism skos:exactMatch MONDO:0005420 hypothyroidism semapv:ManualManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualManualMappingCuration +NANDO:2100123 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualManualMappingCuration +NANDO:2100125 Autoimmune polyendocrinopathy skos:exactMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:ManualManualMappingCuration +NANDO:2100126 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualManualMappingCuration +NANDO:2100131 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualManualMappingCuration +NANDO:2100132 Hypoaldosteronism skos:exactMatch MONDO:0015900 hypoaldosteronism disease semapv:ManualManualMappingCuration +NANDO:2100133 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualManualMappingCuration +NANDO:2100134 Congenital adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualManualMappingCuration +NANDO:2100135 Precocious puberty skos:exactMatch MONDO:0000088 precocious puberty semapv:ManualManualMappingCuration +NANDO:2100138 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualManualMappingCuration +NANDO:2100139 Hypergonadotropic hypogonadism skos:exactMatch MONDO:0005387 primary ovarian failure semapv:ManualManualMappingCuration +NANDO:2100140 Disorders of sex development skos:exactMatch MONDO:0002145 disorder of sexual differentiation semapv:ManualManualMappingCuration +NANDO:2100142 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualManualMappingCuration +NANDO:2100144 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualManualMappingCuration +NANDO:2100147 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualManualMappingCuration +NANDO:2100148 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 multiple endocrine neoplasia semapv:ManualManualMappingCuration +NANDO:2100149 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualManualMappingCuration +NANDO:2100151 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualManualMappingCuration +NANDO:2100152 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualManualMappingCuration +NANDO:2100154 Relapsing Polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualManualMappingCuration +NANDO:2100156 Autoinflammatory disease skos:exactMatch MONDO:0019751 autoinflammatory syndrome semapv:ManualManualMappingCuration +NANDO:2100157 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualManualMappingCuration +NANDO:2100158 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualManualMappingCuration +NANDO:2100159 Inborn errors of metabolism skos:exactMatch MONDO:0019052 inborn errors of metabolism semapv:ManualManualMappingCuration +NANDO:2100160 Disorder of amino acid metabolism skos:exactMatch MONDO:0037871 amino acid metabolism disease semapv:ManualManualMappingCuration +NANDO:2100161 Disorder of organic acid metabolism skos:exactMatch MONDO:0045022 disorder of organic acid metabolism semapv:ManualManualMappingCuration +NANDO:2100162 Disorder of fatty-acid metabolism skos:exactMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:ManualManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:ManualManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0037792 carbohydrate metabolism disease semapv:ManualManualMappingCuration +NANDO:2100165 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualManualMappingCuration +NANDO:2100166 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualManualMappingCuration +NANDO:2100172 Connective tissue disorder skos:exactMatch MONDO:0003900 connective tissue disorder semapv:ManualManualMappingCuration +NANDO:2100174 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualManualMappingCuration +NANDO:2100175 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualManualMappingCuration +NANDO:2100176 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualManualMappingCuration +NANDO:2100177 Pure red cell aplasia skos:exactMatch MONDO:0001705 pure red-cell aplasia semapv:ManualManualMappingCuration +NANDO:2100178 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualManualMappingCuration +NANDO:2100179 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualManualMappingCuration +NANDO:2100180 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualManualMappingCuration +NANDO:2100181 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualManualMappingCuration +NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualManualMappingCuration +NANDO:2100183 Hereditary hemolytic anemia skos:exactMatch MONDO:0003689 familial hemolytic anemia semapv:ManualManualMappingCuration +NANDO:2100186 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualManualMappingCuration +NANDO:2100187 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualManualMappingCuration +NANDO:2100188 Thrombocytopenic purpura skos:exactMatch MONDO:0043768 thrombocytopenic purpura semapv:ManualManualMappingCuration +NANDO:2100189 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration +NANDO:2100192 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualManualMappingCuration +NANDO:2100193 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualManualMappingCuration +NANDO:2100194 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualManualMappingCuration +NANDO:2100197 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualManualMappingCuration +NANDO:2100198 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualManualMappingCuration +NANDO:2100200 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualManualMappingCuration +NANDO:2100201 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualManualMappingCuration +NANDO:2100202 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0015131 combined immunodeficiency semapv:ManualManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:ManualManualMappingCuration +NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualManualMappingCuration +NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0021094 immunodeficiency disease semapv:ManualManualMappingCuration +NANDO:2100212 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualManualMappingCuration +NANDO:2100213 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualManualMappingCuration +NANDO:2100214 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualManualMappingCuration +NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualManualMappingCuration +NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualManualMappingCuration +NANDO:2100216 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualManualMappingCuration +NANDO:2100217 Brain malformation skos:exactMatch MONDO:0016054 cerebral malformation semapv:ManualManualMappingCuration +NANDO:2100218 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualManualMappingCuration +NANDO:2100219 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualManualMappingCuration +NANDO:2100220 Neurocutaneous syndrome skos:exactMatch MONDO:0042983 neurocutaneous syndrome semapv:ManualManualMappingCuration +NANDO:2100221 Progeroid syndromes skos:exactMatch MONDO:0015333 progeroid syndrome semapv:ManualManualMappingCuration +NANDO:2100223 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualManualMappingCuration +NANDO:2100224 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualManualMappingCuration +NANDO:2100226 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualManualMappingCuration +NANDO:2100227 Craniosynostosis skos:exactMatch MONDO:0015469 craniosynostosis semapv:ManualManualMappingCuration +NANDO:2100228 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualManualMappingCuration +NANDO:2100229 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0019079 proximal spinal muscular atrophy semapv:ManualManualMappingCuration +NANDO:2100233 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualManualMappingCuration +NANDO:2100234 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualManualMappingCuration +NANDO:2100235 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualManualMappingCuration +NANDO:2100237 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualManualMappingCuration +NANDO:2100238 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualManualMappingCuration +NANDO:2100239 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration +NANDO:2100240 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualManualMappingCuration +NANDO:2100241 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:ManualManualMappingCuration +NANDO:2100242 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualManualMappingCuration +NANDO:2100244 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualManualMappingCuration +NANDO:2100245 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration +NANDO:2100246 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualManualMappingCuration +NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualManualMappingCuration +NANDO:2100248 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualManualMappingCuration +NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualManualMappingCuration +NANDO:2100250 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualManualMappingCuration +NANDO:2100252 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualManualMappingCuration +NANDO:2100255 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualManualMappingCuration +NANDO:2100256 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualManualMappingCuration +NANDO:2100257 Polyposis skos:exactMatch MONDO:0000147 polyposis semapv:ManualManualMappingCuration +NANDO:2100258 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualManualMappingCuration +NANDO:2100259 Inflammatory bowel disease skos:exactMatch MONDO:0005265 inflammatory bowel disease semapv:ManualManualMappingCuration +NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualManualMappingCuration +NANDO:2100264 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualManualMappingCuration +NANDO:2100267 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualManualMappingCuration +NANDO:2100268 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualManualMappingCuration +NANDO:2100272 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualManualMappingCuration +NANDO:2100274 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualManualMappingCuration +NANDO:2100279 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualManualMappingCuration +NANDO:2100280 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualManualMappingCuration +NANDO:2100281 Skin disease skos:exactMatch MONDO:0005093 skin disorder semapv:ManualManualMappingCuration +NANDO:2100283 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualManualMappingCuration +NANDO:2100284 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualManualMappingCuration +NANDO:2100285 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualManualMappingCuration +NANDO:2100286 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualManualMappingCuration +NANDO:2100287 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualManualMappingCuration +NANDO:2100290 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualManualMappingCuration +NANDO:2100291 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualManualMappingCuration +NANDO:2100293 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualManualMappingCuration +NANDO:2100294 Vascular disease skos:exactMatch MONDO:0005385 vascular disorder semapv:ManualManualMappingCuration +NANDO:2100295 Vascular malformation skos:exactMatch MONDO:0024291 vascular malformation semapv:ManualManualMappingCuration +NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualManualMappingCuration +NANDO:2100297 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualManualMappingCuration +NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualManualMappingCuration +NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:exactMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:ManualManualMappingCuration +NANDO:2200003 T-cell lymphoblastic leukemia skos:exactMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:ManualManualMappingCuration +NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:exactMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:ManualManualMappingCuration +NANDO:2200005 Acute myeloid leukemia without maturation skos:exactMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:ManualManualMappingCuration +NANDO:2200006 Acute myeloid leukemia with maturation skos:exactMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:ManualManualMappingCuration +NANDO:2200007 Acute promyelocytic leukemia skos:exactMatch MONDO:0012883 acute promyelocytic leukemia semapv:ManualManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualManualMappingCuration +NANDO:2200010 Acute erythremia skos:exactMatch MONDO:0017858 acute erythroid leukemia semapv:ManualManualMappingCuration +NANDO:2200011 Acute megakaryoblastic leukemia skos:exactMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:ManualManualMappingCuration +NANDO:2200012 NK cell leukemia skos:exactMatch MONDO:0019470 aggressive NK-cell leukemia semapv:ManualManualMappingCuration +NANDO:2200013 Chronic myeloid leukemia skos:exactMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:ManualManualMappingCuration +NANDO:2200015 Juvenile myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0020321 acute undifferentiated leukemia semapv:ManualManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0020743 mixed phenotype acute leukemia semapv:ManualManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualManualMappingCuration +NANDO:2200020 Mature B-cell lymphoma skos:exactMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:ManualManualMappingCuration +NANDO:2200021 Anaplastic large cell lymphoma skos:exactMatch MONDO:0020325 anaplastic large cell lymphoma semapv:ManualManualMappingCuration +NANDO:2200022 Precursor B lymphoblastic lymphoma skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualManualMappingCuration +NANDO:2200023 Precursor T lymphoblastic lymphoma skos:exactMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:ManualManualMappingCuration +NANDO:2200024 Hodgkin lymphoma skos:exactMatch MONDO:0004952 Hodgkins lymphoma semapv:ManualManualMappingCuration +NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:exactMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:ManualManualMappingCuration +NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:exactMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:ManualManualMappingCuration +NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:exactMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:ManualManualMappingCuration +NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:exactMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:ManualManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:ManualManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:ManualManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0018310 Langerhans cell histiocytosis semapv:ManualManualMappingCuration +NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:exactMatch MONDO:0015540 hemophagocytic syndrome semapv:ManualManualMappingCuration +NANDO:2200034 Follicular dendritic cell sarcoma skos:exactMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:ManualManualMappingCuration +NANDO:2200035 Interdigitating dendritic cell sarcoma skos:exactMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:ManualManualMappingCuration +NANDO:2200036 Langerhans cell sarcoma skos:exactMatch MONDO:0019480 Langerhans cell sarcoma semapv:ManualManualMappingCuration +NANDO:2200037 Juvenile xanthogranuloma skos:exactMatch MONDO:0015534 juvenile xanthogranuloma semapv:ManualManualMappingCuration +NANDO:2200038 Erdheim-Chester disease skos:exactMatch MONDO:0018153 Erdheim-Chester disease semapv:ManualManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:ManualManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:ManualManualMappingCuration +NANDO:2200040 Neuroblastoma skos:exactMatch MONDO:0005072 neuroblastoma semapv:ManualManualMappingCuration +NANDO:2200041 Ganglioneuroblastoma skos:exactMatch MONDO:0005035 ganglioneuroblastoma semapv:ManualManualMappingCuration +NANDO:2200042 Retinoblastoma skos:exactMatch MONDO:0008380 retinoblastoma semapv:ManualManualMappingCuration +NANDO:2200043 Wilms tumour skos:exactMatch MONDO:0019004 kidney Wilms tumor semapv:ManualManualMappingCuration +NANDO:2200044 Clear cell sarcoma of the kidney skos:exactMatch MONDO:0005006 clear cell sarcoma of kidney semapv:ManualManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005086 renal cell carcinoma semapv:ManualManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005549 renal cell adenocarcinoma semapv:ManualManualMappingCuration +NANDO:2200046 Hepatoblastoma skos:exactMatch MONDO:0018666 hepatoblastoma semapv:ManualManualMappingCuration +NANDO:2200047 Hepatocellular carcinoma skos:exactMatch MONDO:0007256 hepatocellular carcinoma semapv:ManualManualMappingCuration +NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0002623 pediatric osteosarcoma semapv:ManualManualMappingCuration +NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0009807 osteosarcoma semapv:ManualManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualManualMappingCuration +NANDO:2200050 Chondrosarcoma skos:exactMatch MONDO:0008977 chondrosarcoma semapv:ManualManualMappingCuration +NANDO:2200051 Chondroblastoma skos:exactMatch MONDO:0004997 chondroblastoma semapv:ManualManualMappingCuration +NANDO:2200052 Malignancy in giant cell tumour of bone skos:exactMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:ManualManualMappingCuration +NANDO:2200053 Ewing's sarcoma skos:exactMatch MONDO:0012817 Ewing sarcoma semapv:ManualManualMappingCuration +NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualManualMappingCuration +NANDO:2200056 Rhabdomyosarcoma skos:exactMatch MONDO:0005212 rhabdomyosarcoma semapv:ManualManualMappingCuration +NANDO:2200057 Malignant rhabdoid tumour skos:exactMatch MONDO:0002728 rhabdoid tumor semapv:ManualManualMappingCuration +NANDO:2200058 Undifferentiated sarcoma skos:exactMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:ManualManualMappingCuration +NANDO:2200059 Desmoplastic small round cell tumors skos:exactMatch MONDO:0019373 desmoplastic small round cell tumor semapv:ManualManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002676 adult fibrosarcoma semapv:ManualManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002678 pediatric fibrosarcoma semapv:ManualManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0005164 fibrosarcoma semapv:ManualManualMappingCuration +NANDO:2200061 Synovial sarcoma skos:exactMatch MONDO:0010434 synovial sarcoma semapv:ManualManualMappingCuration +NANDO:2200062 Clear cell sarcoma skos:exactMatch MONDO:0002926 clear cell sarcoma semapv:ManualManualMappingCuration +NANDO:2200063 Alveolar soft part sarcoma skos:exactMatch MONDO:0011655 alveolar soft part sarcoma semapv:ManualManualMappingCuration +NANDO:2200064 Leiomyosarcoma skos:exactMatch MONDO:0005058 leiomyosarcoma semapv:ManualManualMappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003585 adult liposarcoma semapv:ManualManualMappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003587 pediatric liposarcoma semapv:ManualManualMappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0005060 liposarcoma semapv:ManualManualMappingCuration +NANDO:2200066 Dysgerminoma skos:exactMatch MONDO:0003002 dysgerminoma semapv:ManualManualMappingCuration +NANDO:2200067 Embryonal carcinoma skos:exactMatch MONDO:0005440 embryonal carcinoma semapv:ManualManualMappingCuration +NANDO:2200068 Polyembryoma skos:exactMatch MONDO:0015863 polyembryoma semapv:ManualManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0005744 yolk sac tumor semapv:ManualManualMappingCuration +NANDO:2200070 Choriocarcinoma skos:exactMatch MONDO:0005207 choriocarcinoma semapv:ManualManualMappingCuration +NANDO:2200071 Mixed germ cell tumour skos:exactMatch MONDO:0015864 mixed germ cell tumor semapv:ManualManualMappingCuration +NANDO:2200072 Sex-cord stromal tumour skos:exactMatch MONDO:0006055 sex cord-stromal tumor semapv:ManualManualMappingCuration +NANDO:2200073 Adrenocortical carcinoma skos:exactMatch MONDO:0006639 adrenal cortex carcinoma semapv:ManualManualMappingCuration +NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0002108 thyroid cancer semapv:ManualManualMappingCuration +NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0015075 thyroid gland carcinoma semapv:ManualManualMappingCuration +NANDO:2200076 Salivary grand carcinoma skos:exactMatch MONDO:0000521 salivary gland carcinoma semapv:ManualManualMappingCuration +NANDO:2200077 Malignant melanoma skos:exactMatch MONDO:0005105 melanoma semapv:ManualManualMappingCuration +NANDO:2200078 Pheochromocytoma skos:exactMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:ManualManualMappingCuration +NANDO:2200079 Malignant thymoma skos:exactMatch MONDO:0006451 thymic carcinoma semapv:ManualManualMappingCuration +NANDO:2200080 Pleuropulmonaryblastoma skos:exactMatch MONDO:0011014 pleuropulmonary blastoma semapv:ManualManualMappingCuration +NANDO:2200081 Bronchial tumour skos:exactMatch MONDO:0002807 bronchial neoplasm semapv:ManualManualMappingCuration +NANDO:2200082 Pancreatoblastoma skos:exactMatch MONDO:0019035 pancreatoblastoma semapv:ManualManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:ManualManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0016691 pilocytic astrocytoma semapv:ManualManualMappingCuration +NANDO:2200085 Diffuse astrocytoma skos:exactMatch MONDO:0016686 diffuse astrocytoma semapv:ManualManualMappingCuration +NANDO:2200086 Anaplastic astrocytoma skos:exactMatch MONDO:0016684 anaplastic astrocytoma semapv:ManualManualMappingCuration +NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0018177 glioblastoma semapv:ManualManualMappingCuration +NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0020690 adult glioblastoma semapv:ManualManualMappingCuration +NANDO:2200088 Ependymoma skos:exactMatch MONDO:0016698 ependymoma semapv:ManualManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002540 childhood oligodendroglioma semapv:ManualManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002543 adult oligodendroglioma semapv:ManualManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0016695 oligodendroglioma semapv:ManualManualMappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002794 adult medulloblastoma semapv:ManualManualMappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002797 childhood medulloblastoma semapv:ManualManualMappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0007959 medulloblastoma semapv:ManualManualMappingCuration +NANDO:2200091 Craniopharyngioma skos:exactMatch MONDO:0018907 craniopharyngioma semapv:ManualManualMappingCuration +NANDO:2200092 Pineocytoma skos:exactMatch MONDO:0016723 pineocytoma semapv:ManualManualMappingCuration +NANDO:2200093 Choroid plexus papilloma skos:exactMatch MONDO:0009837 choroid plexus papilloma semapv:ManualManualMappingCuration +NANDO:2200094 Meningioma skos:exactMatch MONDO:0003057 pediatric meningioma semapv:ManualManualMappingCuration +NANDO:2200094 Meningioma skos:exactMatch MONDO:0016642 meningioma semapv:ManualManualMappingCuration +NANDO:2200095 Pituitary adenoma skos:exactMatch MONDO:0006373 pituitary gland adenoma semapv:ManualManualMappingCuration +NANDO:2200096 Ganglioglioma skos:exactMatch MONDO:0016733 ganglioglioma semapv:ManualManualMappingCuration +NANDO:2200097 Gangliocytoma skos:exactMatch MONDO:0016730 gangliocytoma semapv:ManualManualMappingCuration +NANDO:2200098 Chordoma skos:exactMatch MONDO:0008978 chordoma semapv:ManualManualMappingCuration +NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualManualMappingCuration +NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualManualMappingCuration +NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:exactMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:ManualManualMappingCuration +NANDO:2200102 Malignant neurinoma skos:exactMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:ManualManualMappingCuration +NANDO:2200103 Neurinoma skos:exactMatch MONDO:0002546 schwannoma semapv:ManualManualMappingCuration +NANDO:2200104 Teratoma of the central nervous system skos:exactMatch MONDO:0002718 central nervous system teratoma semapv:ManualManualMappingCuration +NANDO:2200105 Mature teratoma skos:exactMatch MONDO:0003517 mature teratoma semapv:ManualManualMappingCuration +NANDO:2200106 Immature teratoma skos:exactMatch MONDO:0024746 immature teratoma semapv:ManualManualMappingCuration +NANDO:2200107 Teratoma with malignant transformation skos:exactMatch MONDO:0006444 teratoma with malignant transformation semapv:ManualManualMappingCuration +NANDO:2200108 Intracranial germ cell tumour skos:exactMatch MONDO:0004218 childhood germ cell brain tumor semapv:ManualManualMappingCuration +NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:exactMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:ManualManualMappingCuration +NANDO:2200112 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualManualMappingCuration +NANDO:2200113 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualManualMappingCuration +NANDO:2200114 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualManualMappingCuration +NANDO:2200116 Denys-Drash syndrome skos:exactMatch MONDO:0008682 Denys-Drash syndrome semapv:ManualManualMappingCuration +NANDO:2200117 Pierson syndrome skos:exactMatch MONDO:0012184 Pierson syndrome semapv:ManualManualMappingCuration +NANDO:2200118 Central nervous system malformation syndrome skos:exactMatch MONDO:0020022 central nervous system malformation semapv:ManualManualMappingCuration +NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualManualMappingCuration +NANDO:2200120 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualManualMappingCuration +NANDO:2200121 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualManualMappingCuration +NANDO:2200122 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration +NANDO:2200125 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualManualMappingCuration +NANDO:2200126 Alport syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualManualMappingCuration +NANDO:2200127 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualManualMappingCuration +NANDO:2200128 Lupus nephritis skos:exactMatch MONDO:0005556 lupus nephritis semapv:ManualManualMappingCuration +NANDO:2200131 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualManualMappingCuration +NANDO:2200132 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualManualMappingCuration +NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:exactMatch MONDO:0007671 fibronectin glomerulopathy semapv:ManualManualMappingCuration +NANDO:2200134 Lipoprotein glomerulopathy skos:exactMatch MONDO:0012725 lipoprotein glomerulopathy semapv:ManualManualMappingCuration +NANDO:2200136 Tubulointerstitial nephritis skos:exactMatch MONDO:0001085 interstitial nephritis semapv:ManualManualMappingCuration +NANDO:2200137 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0019065 amyloidosis semapv:ManualManualMappingCuration +NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualManualMappingCuration +NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualManualMappingCuration +NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualManualMappingCuration +NANDO:2200144 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualManualMappingCuration +NANDO:2200145 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualManualMappingCuration +NANDO:2200146 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualManualMappingCuration +NANDO:2200152 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualManualMappingCuration +NANDO:2200153 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualManualMappingCuration +NANDO:2200154 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualManualMappingCuration +NANDO:2200155 Hypoplastic kidney skos:exactMatch MONDO:0019637 renal hypoplasia semapv:ManualManualMappingCuration +NANDO:2200156 Renal aplasia skos:exactMatch MONDO:0018470 renal agenesis semapv:ManualManualMappingCuration +NANDO:2200157 Potter syndrome skos:exactMatch MONDO:0001558 Potter sequence semapv:ManualManualMappingCuration +NANDO:2200158 Multicystic dysplastic kidney skos:exactMatch MONDO:0015988 multicystic dysplastic kidney semapv:ManualManualMappingCuration +NANDO:2200159 Oligomeganephronia skos:exactMatch MONDO:0016407 oligomeganephronia semapv:ManualManualMappingCuration +NANDO:2200161 Renal dysplasia skos:exactMatch MONDO:0019638 renal dysplasia semapv:ManualManualMappingCuration +NANDO:2200170 Medullary cystic kidney skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualManualMappingCuration +NANDO:2200171 Multilocular cysts of the kidney skos:exactMatch MONDO:0019983 multiloculated renal cyst semapv:ManualManualMappingCuration +NANDO:2200172 Simple renal cyst skos:exactMatch MONDO:0002473 cystic kidney disease semapv:ManualManualMappingCuration +NANDO:2200173 Medullary sponge kidney skos:exactMatch MONDO:0015268 medullary sponge kidney semapv:ManualManualMappingCuration +NANDO:2200176 Ureteropelvic junction obstruction skos:exactMatch MONDO:0007741 congenital hydronephrosis semapv:ManualManualMappingCuration +NANDO:2200177 Megacalycosis skos:exactMatch MONDO:0019639 congenital megacalycosis semapv:ManualManualMappingCuration +NANDO:2200178 Obstructive uropathy skos:exactMatch MONDO:0003330 urinary tract obstruction semapv:ManualManualMappingCuration +NANDO:2200179 Vesicoureteral reflux skos:exactMatch MONDO:0006007 vesicoureteral reflux semapv:ManualManualMappingCuration +NANDO:2200183 Ureteroceles skos:exactMatch MONDO:0008628 ureterocele semapv:ManualManualMappingCuration +NANDO:2200184 Megaureter skos:exactMatch MONDO:0018960 congenital primary megaureter semapv:ManualManualMappingCuration +NANDO:2200185 Prune belly syndrome skos:exactMatch MONDO:0007032 prune belly syndrome semapv:ManualManualMappingCuration +NANDO:2200187 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualManualMappingCuration +NANDO:2200188 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualManualMappingCuration +NANDO:2200194 Tracheal stenosis skos:exactMatch MONDO:0002568 tracheal stenosis semapv:ManualManualMappingCuration +NANDO:2200195 Tracheomalacia skos:exactMatch MONDO:0019804 tracheomalacia semapv:ManualManualMappingCuration +NANDO:2200198 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualManualMappingCuration +NANDO:2200199 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualManualMappingCuration +NANDO:2200200 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualManualMappingCuration +NANDO:2200202 Pulmonary alveolar microlithiasis skos:exactMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:ManualManualMappingCuration +NANDO:2200203 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualManualMappingCuration +NANDO:2200204 Kartagener syndrome skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualManualMappingCuration +NANDO:2200205 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualManualMappingCuration +NANDO:2200206 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualManualMappingCuration +NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualManualMappingCuration +NANDO:2200209 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualManualMappingCuration +NANDO:2200210 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualManualMappingCuration +NANDO:2200212 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualManualMappingCuration +NANDO:2200213 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0000468 third-degree atrioventricular block semapv:ManualManualMappingCuration +NANDO:2200215 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualManualMappingCuration +NANDO:2200216 Polymorphic ventricular premature beat skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualManualMappingCuration +NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:exactMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:ManualManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005479 atrial tachycardia semapv:ManualManualMappingCuration +NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualManualMappingCuration +NANDO:2200225 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualManualMappingCuration +NANDO:2200226 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualManualMappingCuration +NANDO:2200227 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualManualMappingCuration +NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualManualMappingCuration +NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0019171 familial long QT syndrome semapv:ManualManualMappingCuration +NANDO:2200229 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration +NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualManualMappingCuration +NANDO:2200231 Non-compaction of the ventricle skos:exactMatch MONDO:0018901 left ventricular noncompaction semapv:ManualManualMappingCuration +NANDO:2200232 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualManualMappingCuration +NANDO:2200233 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0006779 heart aneurysm semapv:ManualManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0015677 cardiac diverticulum semapv:ManualManualMappingCuration +NANDO:2200235 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualManualMappingCuration +NANDO:2200236 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualManualMappingCuration +NANDO:2200239 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualManualMappingCuration +NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:exactMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:ManualManualMappingCuration +NANDO:2200246 Stenosis or atresia of coronary artery skos:exactMatch MONDO:0006715 coronary stenosis semapv:ManualManualMappingCuration +NANDO:2200248 Myocardial infarction skos:exactMatch MONDO:0005068 myocardial infarction semapv:ManualManualMappingCuration +NANDO:2200249 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualManualMappingCuration +NANDO:2200250 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualManualMappingCuration +NANDO:2200251 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualManualMappingCuration +NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualManualMappingCuration +NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualManualMappingCuration +NANDO:2200254 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualManualMappingCuration +NANDO:2200256 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualManualMappingCuration +NANDO:2200257 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualManualMappingCuration +NANDO:2200258 Complete transposition of the great arteries skos:exactMatch MONDO:0000153 transposition of the great arteries semapv:ManualManualMappingCuration +NANDO:2200259 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration +NANDO:2200260 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualManualMappingCuration +NANDO:2200262 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualManualMappingCuration +NANDO:2200263 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualManualMappingCuration +NANDO:2200264 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:ManualManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020439 patent foramen ovale semapv:ManualManualMappingCuration +NANDO:2200267 Atrial septal defect, sinus venosus type skos:exactMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:ManualManualMappingCuration +NANDO:2200268 Incomplete atrioventricular septal defect skos:exactMatch MONDO:0015275 partial atrioventricular canal semapv:ManualManualMappingCuration +NANDO:2200269 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualManualMappingCuration +NANDO:2200270 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualManualMappingCuration +NANDO:2200271 Total anomalous pulmonary venous connection skos:exactMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:ManualManualMappingCuration +NANDO:2200272 Partial anomalous pulmonary venous connection skos:exactMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:ManualManualMappingCuration +NANDO:2200273 Pulmonary venous obstruction skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualManualMappingCuration +NANDO:2200274 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualManualMappingCuration +NANDO:2200275 Double-chambered right ventricle skos:exactMatch MONDO:0016581 conotruncal heart malformations semapv:ManualManualMappingCuration +NANDO:2200276 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualManualMappingCuration +NANDO:2200277 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualManualMappingCuration +NANDO:2200278 Supravalvular pulmonary stenosis skos:exactMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:ManualManualMappingCuration +NANDO:2200280 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualManualMappingCuration +NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:exactMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:ManualManualMappingCuration +NANDO:2200282 Unilateral absence of a pulmonary artery skos:exactMatch MONDO:0020007 absence of the pulmonary artery semapv:ManualManualMappingCuration +NANDO:2200283 Coarctation of the aorta skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualManualMappingCuration +NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualManualMappingCuration +NANDO:2200285 Supravalvular aortic stenosis skos:exactMatch MONDO:0008504 supravalvular aortic stenosis semapv:ManualManualMappingCuration +NANDO:2200286 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualManualMappingCuration +NANDO:2200288 Interruption of aortic arch complex skos:exactMatch MONDO:0009010 aortic arch interruption semapv:ManualManualMappingCuration +NANDO:2200290 Double aortic arch disease skos:exactMatch MONDO:0020413 encircling double aortic arch semapv:ManualManualMappingCuration +NANDO:2200293 Aneurysm of sinus valsalva skos:exactMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:ManualManualMappingCuration +NANDO:2200294 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualManualMappingCuration +NANDO:2200295 Pulmonary arteriovenous fistulae skos:exactMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:ManualManualMappingCuration +NANDO:2200296 Coronary artery fistula skos:exactMatch MONDO:0016081 coronary arterial fistulas semapv:ManualManualMappingCuration +NANDO:2200298 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualManualMappingCuration +NANDO:2200299 Chronic cor pulmonale skos:exactMatch MONDO:0001493 chronic pulmonary heart disease semapv:ManualManualMappingCuration +NANDO:2200300 Tricuspid valve stenosis skos:exactMatch MONDO:0005997 tricuspid valve stenosis semapv:ManualManualMappingCuration +NANDO:2200301 Tricuspid valve regurgitation skos:exactMatch MONDO:0002870 tricuspid valve insufficiency semapv:ManualManualMappingCuration +NANDO:2200302 Mitral valve stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualManualMappingCuration +NANDO:2200303 Mitral regurgitation skos:exactMatch MONDO:0001298 congenital mitral valve insufficiency semapv:ManualManualMappingCuration +NANDO:2200304 Pulmonary valve stenosis skos:exactMatch MONDO:0006936 pulmonary valve stenosis semapv:ManualManualMappingCuration +NANDO:2200305 Pulmonary valve regurgitation skos:exactMatch MONDO:0001927 pulmonary valve insufficiency semapv:ManualManualMappingCuration +NANDO:2200306 Aortic valve stenosis skos:exactMatch MONDO:0042981 aortic valve stenosis semapv:ManualManualMappingCuration +NANDO:2200307 Aortic valve regurgitation skos:exactMatch MONDO:0005648 aortic valve insufficiency semapv:ManualManualMappingCuration +NANDO:2200308 Supramitral ring skos:exactMatch MONDO:0020400 congenital supravalvular mitral ring semapv:ManualManualMappingCuration +NANDO:2200312 Congenital hypopituitarism skos:exactMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:ManualManualMappingCuration +NANDO:2200313 Acquired hypopituitarism skos:exactMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:ManualManualMappingCuration +NANDO:2200314 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualManualMappingCuration +NANDO:2200315 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualManualMappingCuration +NANDO:2200317 Congenital growth hormone deficiency skos:exactMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:ManualManualMappingCuration +NANDO:2200320 IGF1 insensitivity skos:exactMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:ManualManualMappingCuration +NANDO:2200321 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualManualMappingCuration +NANDO:2200322 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualManualMappingCuration +NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualManualMappingCuration +NANDO:2200324 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualManualMappingCuration +NANDO:2200325 Adipsic hypernatremia skos:exactMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:ManualManualMappingCuration +NANDO:2200326 Nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualManualMappingCuration +NANDO:2200328 Basedow disease skos:exactMatch MONDO:0005364 Graves disease semapv:ManualManualMappingCuration +NANDO:2200329 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualManualMappingCuration +NANDO:2200330 Ectoic thyroid skos:exactMatch MONDO:0019854 thyroid ectopia semapv:ManualManualMappingCuration +NANDO:2200331 Thyroid agenesis skos:exactMatch MONDO:0019855 athyreosis semapv:ManualManualMappingCuration +NANDO:2200332 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualManualMappingCuration +NANDO:2200333 Congenital hypothyroidism skos:exactMatch MONDO:0018612 congenital hypothyroidism semapv:ManualManualMappingCuration +NANDO:2200335 Hashimoto disease skos:exactMatch MONDO:0007699 Hashimoto thyroiditis semapv:ManualManualMappingCuration +NANDO:2200336 Atrophic thyroiditis skos:exactMatch MONDO:0005624 atrophic thyroiditis semapv:ManualManualMappingCuration +NANDO:2200340 Central hypothyroidism skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualManualMappingCuration +NANDO:2200343 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualManualMappingCuration +NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualManualMappingCuration +NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:exactMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:ManualManualMappingCuration +NANDO:2200348 Pseudopseudohypoparathyroidism skos:exactMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:ManualManualMappingCuration +NANDO:2200349 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualManualMappingCuration +NANDO:2200350 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualManualMappingCuration +NANDO:2200351 Ectopic ACTH syndrome skos:exactMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:ManualManualMappingCuration +NANDO:2200352 Adrenal adenoma skos:exactMatch MONDO:0003924 adrenal cortex adenoma semapv:ManualManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration +NANDO:2200358 Glucocorticoid resistance skos:exactMatch MONDO:0014421 glucocorticoid resistance semapv:ManualManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualManualMappingCuration +NANDO:2200360 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualManualMappingCuration +NANDO:2200360 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualManualMappingCuration +NANDO:2200361 Aldosteronism skos:exactMatch MONDO:0001422 primary aldosteronism semapv:ManualManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualManualMappingCuration +NANDO:2200363 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualManualMappingCuration +NANDO:2200365 Aldosterone synthase deficiency skos:exactMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:ManualManualMappingCuration +NANDO:2200367 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualManualMappingCuration +NANDO:2200368 Pseudohypoaldosteronism type I skos:exactMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:ManualManualMappingCuration +NANDO:2200369 Pseudohypoaldosteronism type II skos:exactMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:ManualManualMappingCuration +NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualManualMappingCuration +NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2200372 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualManualMappingCuration +NANDO:2200373 17 alpha-hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualManualMappingCuration +NANDO:2200375 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualManualMappingCuration +NANDO:2200377 Gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualManualMappingCuration +NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0015791 peripheral precocious puberty semapv:ManualManualMappingCuration +NANDO:2200379 Hyperestrogenism skos:exactMatch MONDO:0001946 obsolete hyperestrogenism semapv:ManualManualMappingCuration +NANDO:2200380 Hyperandrogenism skos:exactMatch MONDO:0001324 obsolete hyperandrogenism semapv:ManualManualMappingCuration +NANDO:2200381 Kallmann syndrome skos:exactMatch MONDO:0018800 Kallmann syndrome semapv:ManualManualMappingCuration +NANDO:2200382 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualManualMappingCuration +NANDO:2200383 Testicular dysgenesis skos:exactMatch MONDO:0005437 testicular dysgenesis syndrome semapv:ManualManualMappingCuration +NANDO:2200386 Klinefelter syndrome skos:exactMatch MONDO:0006823 Klinefelter syndrome semapv:ManualManualMappingCuration +NANDO:2200387 Ovotesticular dsd skos:exactMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:ManualManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0001969 mixed gonadal dysgenesis semapv:ManualManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:ManualManualMappingCuration +NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:ManualManualMappingCuration +NANDO:2200391 Androgen insensitivity syndrome skos:exactMatch MONDO:0019154 androgen insensitivity syndrome semapv:ManualManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020040 46,XY disorder of sex development semapv:ManualManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:ManualManualMappingCuration +NANDO:2200394 Vipoma skos:exactMatch MONDO:0019960 VIPoma semapv:ManualManualMappingCuration +NANDO:2200395 Gastrinoma skos:exactMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:ManualManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0005369 carcinoid tumor semapv:ManualManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0006689 obsolete carcinoid syndrome semapv:ManualManualMappingCuration +NANDO:2200397 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualManualMappingCuration +NANDO:2200398 Insulinoma skos:exactMatch MONDO:0024677 pancreatic insulinoma semapv:ManualManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualManualMappingCuration +NANDO:2200401 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualManualMappingCuration +NANDO:2200402 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualManualMappingCuration +NANDO:2200403 Primary hypophosphatemic rickets skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualManualMappingCuration +NANDO:2200404 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualManualMappingCuration +NANDO:2200405 Multiple endocrine neoplasia type 1 skos:exactMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:ManualManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:ManualManualMappingCuration +NANDO:2200408 Von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualManualMappingCuration +NANDO:2200409 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualManualMappingCuration +NANDO:2200410 Turner syndrome skos:exactMatch MONDO:0019499 Turner syndrome semapv:ManualManualMappingCuration +NANDO:2200411 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualManualMappingCuration +NANDO:2200412 McCune-Albright syndrome skos:exactMatch MONDO:0018919 McCune-Albright syndrome semapv:ManualManualMappingCuration +NANDO:2200413 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualManualMappingCuration +NANDO:2200414 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 Bardet-Biedl syndrome semapv:ManualManualMappingCuration +NANDO:2200415 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualManualMappingCuration +NANDO:2200416 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualManualMappingCuration +NANDO:2200418 Juvenile dermatomyositis skos:exactMatch MONDO:0008054 juvenile dermatomyositis semapv:ManualManualMappingCuration +NANDO:2200419 Juvenile polymyositis skos:exactMatch MONDO:0019734 juvenile polymyositis semapv:ManualManualMappingCuration +NANDO:2200420 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualManualMappingCuration +NANDO:2200421 Anti-phospholipid antibody syndrome skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualManualMappingCuration +NANDO:2200422 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualManualMappingCuration +NANDO:2200424 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualManualMappingCuration +NANDO:2200426 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualManualMappingCuration +NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualManualMappingCuration +NANDO:2200428 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualManualMappingCuration +NANDO:2200429 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualManualMappingCuration +NANDO:2200430 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualManualMappingCuration +NANDO:2200431 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualManualMappingCuration +NANDO:2200432 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualManualMappingCuration +NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualManualMappingCuration +NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualManualMappingCuration +NANDO:2200435 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0017708 mevalonate kinase deficiency semapv:ManualManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0004471 bacterial arthritis semapv:ManualManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0018824 pyoderma gangrenosum semapv:ManualManualMappingCuration +NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualManualMappingCuration +NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:exactMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:ManualManualMappingCuration +NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualManualMappingCuration +NANDO:2200443 CARD14 deficiency skos:exactMatch MONDO:0011269 psoriasis 2 semapv:ManualManualMappingCuration +NANDO:2200444 Cherubism skos:exactMatch MONDO:0007315 cherubism semapv:ManualManualMappingCuration +NANDO:2200446 IL10 deficiency skos:exactMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:ManualManualMappingCuration +NANDO:2200447 IL-10RA deficiency skos:exactMatch MONDO:0013153 inflammatory bowel disease 28 semapv:ManualManualMappingCuration +NANDO:2200448 IL-10RB deficiency skos:exactMatch MONDO:0012941 inflammatory bowel disease 25 semapv:ManualManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualManualMappingCuration +NANDO:2200451 PLCg2 deficiency skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualManualMappingCuration +NANDO:2200452 IL36RN deficiency skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualManualMappingCuration +NANDO:2200453 Majeed syndrome skos:exactMatch MONDO:0012316 Majeed syndrome semapv:ManualManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualManualMappingCuration +NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:ManualManualMappingCuration +NANDO:2200456 RBCK1 deficiency skos:exactMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:ManualManualMappingCuration +NANDO:2200457 SLC29A3 deficiency skos:exactMatch MONDO:0011273 H syndrome semapv:ManualManualMappingCuration +NANDO:2200458 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualManualMappingCuration +NANDO:2200460 Diabetes mellitus type 1 skos:exactMatch MONDO:0005147 type 1 diabetes mellitus semapv:ManualManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0005148 type 2 diabetes mellitus semapv:ManualManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualManualMappingCuration +NANDO:2200462 Maturity-onset diabetes of the young skos:exactMatch MONDO:0018911 maturity-onset diabetes of the young semapv:ManualManualMappingCuration +NANDO:2200463 Neonatal diabetes mellitus skos:exactMatch MONDO:0016391 neonatal diabetes mellitus semapv:ManualManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0005827 lipoatrophic diabetes semapv:ManualManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualManualMappingCuration +NANDO:2200467 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualManualMappingCuration +NANDO:2200468 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualManualMappingCuration +NANDO:2200469 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualManualMappingCuration +NANDO:2200470 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualManualMappingCuration +NANDO:2200471 Hyperprolinemia skos:exactMatch MONDO:0023419 hyperprolinemia semapv:ManualManualMappingCuration +NANDO:2200472 Prolidase deficiency skos:exactMatch MONDO:0008221 prolidase deficiency semapv:ManualManualMappingCuration +NANDO:2200473 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualManualMappingCuration +NANDO:2200474 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualManualMappingCuration +NANDO:2200475 Hypermethioninemia skos:exactMatch MONDO:0000351 disorder of methionine catabolism semapv:ManualManualMappingCuration +NANDO:2200476 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualManualMappingCuration +NANDO:2200477 N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualManualMappingCuration +NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualManualMappingCuration +NANDO:2200479 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualManualMappingCuration +NANDO:2200480 Argininosuccinate synthetase deficiency skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualManualMappingCuration +NANDO:2200481 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualManualMappingCuration +NANDO:2200482 Hyperargininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualManualMappingCuration +NANDO:2200483 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualManualMappingCuration +NANDO:2200484 Hyperornithinemia skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualManualMappingCuration +NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch MONDO:0009393 ornithine translocase deficiency semapv:ManualManualMappingCuration +NANDO:2200486 Gyrate atrophy of choroid and retina skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualManualMappingCuration +NANDO:2200487 Hartnup disease skos:exactMatch MONDO:0009324 Hartnup disease semapv:ManualManualMappingCuration +NANDO:2200488 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualManualMappingCuration +NANDO:2200489 Cystinuria skos:exactMatch MONDO:0009067 cystinuria semapv:ManualManualMappingCuration +NANDO:2200491 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualManualMappingCuration +NANDO:2200492 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualManualMappingCuration +NANDO:2200493 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualManualMappingCuration +NANDO:2200494 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualManualMappingCuration +NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:ManualManualMappingCuration +NANDO:2200496 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualManualMappingCuration +NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualManualMappingCuration +NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:ManualManualMappingCuration +NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:ManualManualMappingCuration +NANDO:2200500 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualManualMappingCuration +NANDO:2200501 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2200502 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2200503 Primary hyperoxaluria skos:exactMatch MONDO:0002474 primary hyperoxaluria semapv:ManualManualMappingCuration +NANDO:2200504 Alkaptonuria skos:exactMatch MONDO:0008753 alkaptonuria semapv:ManualManualMappingCuration +NANDO:2200505 Glycerol kinase deficiency skos:exactMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:ManualManualMappingCuration +NANDO:2200506 Inborn errors of bile acid metabolism skos:exactMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:ManualManualMappingCuration +NANDO:2200508 Organic cation transporter 2 deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualManualMappingCuration +NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualManualMappingCuration +NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualManualMappingCuration +NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualManualMappingCuration +NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2200515 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualManualMappingCuration +NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2200519 Pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:ManualManualMappingCuration +NANDO:2200520 Fumarase deficiency skos:exactMatch MONDO:0011730 fumaric aciduria semapv:ManualManualMappingCuration +NANDO:2200522 Mitochondrial respiratory chain disorders skos:exactMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:ManualManualMappingCuration +NANDO:2200523 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualManualMappingCuration +NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:exactMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:ManualManualMappingCuration +NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualManualMappingCuration +NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualManualMappingCuration +NANDO:2200527 Leigh syndrome skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualManualMappingCuration +NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualManualMappingCuration +NANDO:2200529 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualManualMappingCuration +NANDO:2200531 Hereditary fructose intolerance skos:exactMatch MONDO:0009249 hereditary fructose intolerance semapv:ManualManualMappingCuration +NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualManualMappingCuration +NANDO:2200533 Galactokinase deficiency skos:exactMatch MONDO:0009255 galactokinase deficiency semapv:ManualManualMappingCuration +NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:exactMatch MONDO:0009257 galactose epimerase deficiency semapv:ManualManualMappingCuration +NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:exactMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:ManualManualMappingCuration +NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:ManualManualMappingCuration +NANDO:2200537 Glycogen synthase deficiency skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualManualMappingCuration +NANDO:2200538 Glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualManualMappingCuration +NANDO:2200539 Glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualManualMappingCuration +NANDO:2200540 Glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualManualMappingCuration +NANDO:2200541 Glycogen storage disease type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualManualMappingCuration +NANDO:2200542 Glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualManualMappingCuration +NANDO:2200543 Glycogen storage disease type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualManualMappingCuration +NANDO:2200544 Glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualManualMappingCuration +NANDO:2200545 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualManualMappingCuration +NANDO:2200547 Mucopolysaccharidosis type I skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualManualMappingCuration +NANDO:2200548 Mucopolysaccharidosis type II skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualManualMappingCuration +NANDO:2200549 Mucopolysaccharidosis type III skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualManualMappingCuration +NANDO:2200550 Mucopolysaccharidosis type IV skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualManualMappingCuration +NANDO:2200551 Mucopolysaccharidosis type VI skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualManualMappingCuration +NANDO:2200552 Mucopolysaccharidosis type VII skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualManualMappingCuration +NANDO:2200553 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualManualMappingCuration +NANDO:2200555 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualManualMappingCuration +NANDO:2200556 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualManualMappingCuration +NANDO:2200557 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualManualMappingCuration +NANDO:2200558 GM1 Gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualManualMappingCuration +NANDO:2200559 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualManualMappingCuration +NANDO:2200560 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualManualMappingCuration +NANDO:2200561 Niemann-Pick disease skos:exactMatch MONDO:0001982 Niemann-Pick disease semapv:ManualManualMappingCuration +NANDO:2200562 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualManualMappingCuration +NANDO:2200563 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualManualMappingCuration +NANDO:2200564 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualManualMappingCuration +NANDO:2200565 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualManualMappingCuration +NANDO:2200566 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualManualMappingCuration +NANDO:2200567 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualManualMappingCuration +NANDO:2200568 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualManualMappingCuration +NANDO:2200569 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualManualMappingCuration +NANDO:2200570 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualManualMappingCuration +NANDO:2200571 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualManualMappingCuration +NANDO:2200572 Free Sialic Acid Storage Disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualManualMappingCuration +NANDO:2200573 Neuronal ceroid lipofuscinoses skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:2200575 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualManualMappingCuration +NANDO:2200576 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualManualMappingCuration +NANDO:2200577 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualManualMappingCuration +NANDO:2200579 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualManualMappingCuration +NANDO:2200580 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualManualMappingCuration +NANDO:2200581 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualManualMappingCuration +NANDO:2200582 Aceruloplasminemia skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualManualMappingCuration +NANDO:2200583 Sulfite oxidase deficiency skos:exactMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:ManualManualMappingCuration +NANDO:2200584 Acrodermatitis enteropathica skos:exactMatch MONDO:0008713 acrodermatitis enteropathica semapv:ManualManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:ManualManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:ManualManualMappingCuration +NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:exactMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:ManualManualMappingCuration +NANDO:2200588 Xanthinuria skos:exactMatch MONDO:0000721 xanthinuria semapv:ManualManualMappingCuration +NANDO:2200590 Orotic aciduria skos:exactMatch MONDO:0009797 orotic aciduria semapv:ManualManualMappingCuration +NANDO:2200592 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualManualMappingCuration +NANDO:2200594 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualManualMappingCuration +NANDO:2200595 Tyrosine hydroxylase deficiency skos:exactMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:ManualManualMappingCuration +NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualManualMappingCuration +NANDO:2200597 Dopamine beta hydroxylase deficiency skos:exactMatch MONDO:0009123 orthostatic hypotension 1 semapv:ManualManualMappingCuration +NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:exactMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:ManualManualMappingCuration +NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0005439 familial hypercholesterolemia semapv:ManualManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:ManualManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0016525 familial hyperaldosteronism semapv:ManualManualMappingCuration +NANDO:2200604 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualManualMappingCuration +NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0017773 hypoalphalipoproteinemia semapv:ManualManualMappingCuration +NANDO:2200607 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualManualMappingCuration +NANDO:2200608 Lipoid proteinosis skos:exactMatch MONDO:0009530 lipoid proteinosis semapv:ManualManualMappingCuration +NANDO:2200611 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualManualMappingCuration +NANDO:2200612 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualManualMappingCuration +NANDO:2200614 Congenital red cell aplasia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualManualMappingCuration +NANDO:2200615 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualManualMappingCuration +NANDO:2200616 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualManualMappingCuration +NANDO:2200617 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualManualMappingCuration +NANDO:2200618 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualManualMappingCuration +NANDO:2200619 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualManualMappingCuration +NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualManualMappingCuration +NANDO:2200622 Hereditary spherocytosis skos:exactMatch MONDO:0019350 hereditary spherocytosis semapv:ManualManualMappingCuration +NANDO:2200623 Hereditary stomatocytosis skos:exactMatch MONDO:0020102 hereditary stomatocytosis semapv:ManualManualMappingCuration +NANDO:2200624 Sickle cell disease skos:exactMatch MONDO:0011382 sickle cell anemia semapv:ManualManualMappingCuration +NANDO:2200625 Unstable hemoglobin disease skos:exactMatch MONDO:0020459 unstable hemoglobin disease semapv:ManualManualMappingCuration +NANDO:2200626 Thalassemia skos:exactMatch MONDO:0000984 thalassemia semapv:ManualManualMappingCuration +NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:exactMatch MONDO:0005775 G6PD deficiency semapv:ManualManualMappingCuration +NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:ManualManualMappingCuration +NANDO:2200630 Hereditary elliptocytosis skos:exactMatch MONDO:0017319 hereditary elliptocytosis semapv:ManualManualMappingCuration +NANDO:2200631 Hereditary pyropoikilocytosis skos:exactMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:ManualManualMappingCuration +NANDO:2200633 Stomatocytic xerocytosis skos:exactMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:ManualManualMappingCuration +NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:exactMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:ManualManualMappingCuration +NANDO:2200635 Hemoglobin C disease skos:exactMatch MONDO:0016242 hemoglobin C disease semapv:ManualManualMappingCuration +NANDO:2200636 Hemolytic anemia skos:exactMatch MONDO:0003664 hemolytic anemia semapv:ManualManualMappingCuration +NANDO:2200637 Hypersplenism skos:exactMatch MONDO:0006795 hypersplenism semapv:ManualManualMappingCuration +NANDO:2200639 Disseminated intravascular coagulation skos:exactMatch MONDO:0001243 disseminated intravascular coagulation semapv:ManualManualMappingCuration +NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:exactMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:ManualManualMappingCuration +NANDO:2200641 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualManualMappingCuration +NANDO:2200643 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualManualMappingCuration +NANDO:2200644 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualManualMappingCuration +NANDO:2200645 Immune thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualManualMappingCuration +NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:exactMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:ManualManualMappingCuration +NANDO:2200648 Heparin-induced thrombocytopenia skos:exactMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:ManualManualMappingCuration +NANDO:2200649 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration +NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:ManualManualMappingCuration +NANDO:2200652 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualManualMappingCuration +NANDO:2200653 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualManualMappingCuration +NANDO:2200654 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualManualMappingCuration +NANDO:2200655 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualManualMappingCuration +NANDO:2200656 Bernard-Soulier syndrome skos:exactMatch MONDO:0009276 Bernard-Soulier syndrome semapv:ManualManualMappingCuration +NANDO:2200657 Thrombasthenia skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualManualMappingCuration +NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:exactMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:ManualManualMappingCuration +NANDO:2200661 Thrombocytopenia with absent radii skos:exactMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:ManualManualMappingCuration +NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:exactMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:ManualManualMappingCuration +NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:exactMatch MONDO:0008555 thrombocytopenia 2 semapv:ManualManualMappingCuration +NANDO:2200664 ITGA2B/ITGB3 mutations skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualManualMappingCuration +NANDO:2200665 ACTN1 mutations skos:exactMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:ManualManualMappingCuration +NANDO:2200667 β-1 tubulin disorders skos:exactMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:ManualManualMappingCuration +NANDO:2200668 Platelet-type von Willebrand disease skos:exactMatch MONDO:0008332 platelet-type von Willebrand disease semapv:ManualManualMappingCuration +NANDO:2200669 ADP receptor deficiencies skos:exactMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:ManualManualMappingCuration +NANDO:2200670 Abnormalities in platelet collagen receptors skos:exactMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:ManualManualMappingCuration +NANDO:2200671 Scott syndrome skos:exactMatch MONDO:0009885 Scott syndrome semapv:ManualManualMappingCuration +NANDO:2200674 Factor V deficiency skos:exactMatch MONDO:0020586 factor V deficiency semapv:ManualManualMappingCuration +NANDO:2200675 Factor VII deficiency skos:exactMatch MONDO:0002244 factor VII deficiency semapv:ManualManualMappingCuration +NANDO:2200676 Hemophilia A skos:exactMatch MONDO:0010602 hemophilia A semapv:ManualManualMappingCuration +NANDO:2200677 Hemophilia B skos:exactMatch MONDO:0010604 hemophilia B semapv:ManualManualMappingCuration +NANDO:2200678 Factor X deficiency skos:exactMatch MONDO:0002247 factor X deficiency semapv:ManualManualMappingCuration +NANDO:2200679 Factor XI deficiency skos:exactMatch MONDO:0020587 factor XI deficiency semapv:ManualManualMappingCuration +NANDO:2200680 Factor XII deficiency skos:exactMatch MONDO:0009315 congenital factor XII deficiency semapv:ManualManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0002241 factor XIII deficiency semapv:ManualManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0018029 congenital factor XIII deficiency semapv:ManualManualMappingCuration +NANDO:2200682 Von Willebrand disease skos:exactMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:ManualManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0012901 inherited prekallikrein deficiency semapv:ManualManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0044744 prekallikrein deficiency semapv:ManualManualMappingCuration +NANDO:2200685 High molecular weight kininogen deficiency skos:exactMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:ManualManualMappingCuration +NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:exactMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:ManualManualMappingCuration +NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:exactMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:ManualManualMappingCuration +NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:exactMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:ManualManualMappingCuration +NANDO:2200689 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualManualMappingCuration +NANDO:2200690 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualManualMappingCuration +NANDO:2200692 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualManualMappingCuration +NANDO:2200693 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualManualMappingCuration +NANDO:2200694 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualManualMappingCuration +NANDO:2200695 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualManualMappingCuration +NANDO:2200696 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualManualMappingCuration +NANDO:2200697 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualManualMappingCuration +NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualManualMappingCuration +NANDO:2200699 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualManualMappingCuration +NANDO:2200701 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualManualMappingCuration +NANDO:2200702 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualManualMappingCuration +NANDO:2200704 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualManualMappingCuration +NANDO:2200705 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualManualMappingCuration +NANDO:2200706 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualManualMappingCuration +NANDO:2200707 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualManualMappingCuration +NANDO:2200708 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualManualMappingCuration +NANDO:2200710 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualManualMappingCuration +NANDO:2200711 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualManualMappingCuration +NANDO:2200713 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualManualMappingCuration +NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualManualMappingCuration +NANDO:2200715 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualManualMappingCuration +NANDO:2200716 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualManualMappingCuration +NANDO:2200717 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualManualMappingCuration +NANDO:2200718 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualManualMappingCuration +NANDO:2200719 Isolated IgG subclass deficiency skos:exactMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:ManualManualMappingCuration +NANDO:2200720 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualManualMappingCuration +NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualManualMappingCuration +NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualManualMappingCuration +NANDO:2200724 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualManualMappingCuration +NANDO:2200725 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualManualMappingCuration +NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualManualMappingCuration +NANDO:2200728 Perforin deficiency skos:exactMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:ManualManualMappingCuration +NANDO:2200729 UNC13D/Munc13-4 deficiency skos:exactMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:ManualManualMappingCuration +NANDO:2200730 Syntaxin 11 deficiency skos:exactMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:ManualManualMappingCuration +NANDO:2200731 STXBP2/Munc18-2 deficiency skos:exactMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:ManualManualMappingCuration +NANDO:2200732 Griscelli syndrome type 2 skos:exactMatch MONDO:0011872 Griscelli syndrome type 2 semapv:ManualManualMappingCuration +NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:exactMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:ManualManualMappingCuration +NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:exactMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:ManualManualMappingCuration +NANDO:2200735 CD27 deficiency skos:exactMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:ManualManualMappingCuration +NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:ManualManualMappingCuration +NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualManualMappingCuration +NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:ManualManualMappingCuration +NANDO:2200740 Caspase-8 deficiency skos:exactMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:ManualManualMappingCuration +NANDO:2200741 Fas-associated death domain protein deficiency skos:exactMatch MONDO:0013408 FADD-related immunodeficiency semapv:ManualManualMappingCuration +NANDO:2200743 PKC-δ deficiency skos:exactMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:ManualManualMappingCuration +NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:exactMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:ManualManualMappingCuration +NANDO:2200745 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualManualMappingCuration +NANDO:2200746 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualManualMappingCuration +NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:exactMatch MONDO:0011405 poikiloderma with neutropenia semapv:ManualManualMappingCuration +NANDO:2200750 Cohen syndrome skos:exactMatch MONDO:0008999 Cohen syndrome semapv:ManualManualMappingCuration +NANDO:2200751 Barth syndrome skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualManualMappingCuration +NANDO:2200752 P14 deficiency skos:exactMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:ManualManualMappingCuration +NANDO:2200753 X linked severe congenital neutropenia skos:exactMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:ManualManualMappingCuration +NANDO:2200754 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualManualMappingCuration +NANDO:2200755 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualManualMappingCuration +NANDO:2200756 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualManualMappingCuration +NANDO:2200757 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualManualMappingCuration +NANDO:2200758 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualManualMappingCuration +NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualManualMappingCuration +NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualManualMappingCuration +NANDO:2200762 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualManualMappingCuration +NANDO:2200763 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualManualMappingCuration +NANDO:2200764 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualManualMappingCuration +NANDO:2200766 HOIL-1 deficiency skos:exactMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualManualMappingCuration +NANDO:2200767 WHIM syndrome skos:exactMatch MONDO:0008674 obsolete WHIM syndrome semapv:ManualManualMappingCuration +NANDO:2200768 Epidermodysplasia verruciformis skos:exactMatch MONDO:0009176 epidermodysplasia verruciformis semapv:ManualManualMappingCuration +NANDO:2200770 STAT2 deficiency skos:exactMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:ManualManualMappingCuration +NANDO:2200771 MCM4 mutation skos:exactMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:ManualManualMappingCuration +NANDO:2200772 Herpes simplex encephalitis skos:exactMatch MONDO:0012521 herpes simplex encephalitis semapv:ManualManualMappingCuration +NANDO:2200774 Trypanosomiasis skos:exactMatch MONDO:0000940 trypanosomiasis semapv:ManualManualMappingCuration +NANDO:2200775 Isolated congenital asplenia skos:exactMatch MONDO:0010066 familial isolated congenital asplenia semapv:ManualManualMappingCuration +NANDO:2200776 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualManualMappingCuration +NANDO:2200777 C1q deficiency skos:exactMatch MONDO:0013343 C1Q deficiency semapv:ManualManualMappingCuration +NANDO:2200779 C1s deficiency skos:exactMatch MONDO:0013419 complement component C1s deficiency semapv:ManualManualMappingCuration +NANDO:2200781 C2 deficiency skos:exactMatch MONDO:0009006 complement component 2 deficiency semapv:ManualManualMappingCuration +NANDO:2200782 C3 deficiency skos:exactMatch MONDO:0013417 complement component 3 deficiency semapv:ManualManualMappingCuration +NANDO:2200783 C5 deficiency skos:exactMatch MONDO:0012295 complement component 5 deficiency semapv:ManualManualMappingCuration +NANDO:2200784 C6 deficiency skos:exactMatch MONDO:0012908 complement component 6 deficiency semapv:ManualManualMappingCuration +NANDO:2200785 C7 deficiency skos:exactMatch MONDO:0012412 complement component 7 deficiency semapv:ManualManualMappingCuration +NANDO:2200787 C9 deficiency skos:exactMatch MONDO:0013445 complement component 9 deficiency semapv:ManualManualMappingCuration +NANDO:2200789 Properdin deficiency skos:exactMatch MONDO:0010713 properdin deficiency, X-linked semapv:ManualManualMappingCuration +NANDO:2200791 Factor H deficiency skos:exactMatch MONDO:0012350 complement factor H deficiency semapv:ManualManualMappingCuration +NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:exactMatch MONDO:0017398 3MC syndrome semapv:ManualManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualManualMappingCuration +NANDO:2200797 Factor B deficiency skos:exactMatch MONDO:0014255 complement factor b deficiency semapv:ManualManualMappingCuration +NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:ManualManualMappingCuration +NANDO:2200803 CD46 deficiency skos:exactMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:ManualManualMappingCuration +NANDO:2200804 Primary CD59 deficiency skos:exactMatch MONDO:0012858 primary CD59 deficiency semapv:ManualManualMappingCuration +NANDO:2200805 Hyper eosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualManualMappingCuration +NANDO:2200806 Hypereosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualManualMappingCuration +NANDO:2200807 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualManualMappingCuration +NANDO:2200808 Chronic active EB virus infection skos:exactMatch MONDO:0009194 immunodeficiency 32B semapv:ManualManualMappingCuration +NANDO:2200809 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualManualMappingCuration +NANDO:2200810 HIV infection skos:exactMatch MONDO:0005109 HIV infectious disease semapv:ManualManualMappingCuration +NANDO:2200812 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualManualMappingCuration +NANDO:2200813 Meningoencephalocele skos:exactMatch MONDO:0017079 meningoencephalocele semapv:ManualManualMappingCuration +NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualManualMappingCuration +NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualManualMappingCuration +NANDO:2200815 Spinal lipoma skos:exactMatch MONDO:0001790 spinal cord lipoma semapv:ManualManualMappingCuration +NANDO:2200816 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualManualMappingCuration +NANDO:2200817 Lissencephaly skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualManualMappingCuration +NANDO:2200818 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualManualMappingCuration +NANDO:2200819 Holoprosencephaly skos:exactMatch MONDO:0016296 holoprosencephaly semapv:ManualManualMappingCuration +NANDO:2200820 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualManualMappingCuration +NANDO:2200821 Dandy-Walker syndrome skos:exactMatch MONDO:0009072 Dandy-Walker syndrome semapv:ManualManualMappingCuration +NANDO:2200822 Congenital hydrocephalus skos:exactMatch MONDO:0016349 congenital hydrocephalus semapv:ManualManualMappingCuration +NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:exactMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualManualMappingCuration +NANDO:2200824 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualManualMappingCuration +NANDO:2200825 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualManualMappingCuration +NANDO:2200827 Neurocutaneous melanosis skos:exactMatch MONDO:0009578 neurocutaneous melanocytosis semapv:ManualManualMappingCuration +NANDO:2200828 Gorlin syndrome skos:exactMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:ManualManualMappingCuration +NANDO:2200829 von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualManualMappingCuration +NANDO:2200830 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualManualMappingCuration +NANDO:2200831 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualManualMappingCuration +NANDO:2200832 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualManualMappingCuration +NANDO:2200833 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualManualMappingCuration +NANDO:2200834 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualManualMappingCuration +NANDO:2200835 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualManualMappingCuration +NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualManualMappingCuration +NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualManualMappingCuration +NANDO:2200838 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualManualMappingCuration +NANDO:2200839 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualManualMappingCuration +NANDO:2200840 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualManualMappingCuration +NANDO:2200842 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualManualMappingCuration +NANDO:2200843 Non-syndromic craniosynostosis skos:exactMatch MONDO:0015337 isolated craniosynostosis semapv:ManualManualMappingCuration +NANDO:2200844 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualManualMappingCuration +NANDO:2200845 Crouzon disease skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualManualMappingCuration +NANDO:2200847 Carpenter syndrome skos:exactMatch MONDO:0019012 Carpenter syndrome semapv:ManualManualMappingCuration +NANDO:2200848 Saethre-Chotzen syndrome skos:exactMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:ManualManualMappingCuration +NANDO:2200850 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualManualMappingCuration +NANDO:2200851 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualManualMappingCuration +NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:exactMatch MONDO:0002327 intracranial cavernous angioma semapv:ManualManualMappingCuration +NANDO:2200853 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualManualMappingCuration +NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:ManualManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualManualMappingCuration +NANDO:2200856 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualManualMappingCuration +NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualManualMappingCuration +NANDO:2200858 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualManualMappingCuration +NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualManualMappingCuration +NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualManualMappingCuration +NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:exactMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:ManualManualMappingCuration +NANDO:2200862 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualManualMappingCuration +NANDO:2200864 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualManualMappingCuration +NANDO:2200865 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualManualMappingCuration +NANDO:2200866 LMNA-related congenital muscular dystrophy skos:exactMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:ManualManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualManualMappingCuration +NANDO:2200868 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualManualMappingCuration +NANDO:2200869 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualManualMappingCuration +NANDO:2200870 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualManualMappingCuration +NANDO:2200871 Multicore disease skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualManualMappingCuration +NANDO:2200875 Reducing body myopathy skos:exactMatch MONDO:0019948 reducing body myopathy semapv:ManualManualMappingCuration +NANDO:2200876 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualManualMappingCuration +NANDO:2200877 Severe myoclonic epilepsy in infancy skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualManualMappingCuration +NANDO:2200878 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualManualMappingCuration +NANDO:2200879 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualManualMappingCuration +NANDO:2200880 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualManualMappingCuration +NANDO:2200881 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualManualMappingCuration +NANDO:2200882 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualManualMappingCuration +NANDO:2200883 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration +NANDO:2200884 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualManualMappingCuration +NANDO:2200885 Segawa syndrome skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualManualMappingCuration +NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualManualMappingCuration +NANDO:2200887 Infantile neuroaxonal dystrophy skos:exactMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:ManualManualMappingCuration +NANDO:2200888 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualManualMappingCuration +NANDO:2200889 Congenital herpes simplex virus infection skos:exactMatch MONDO:0017381 congenital herpes simplex virus infection semapv:ManualManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0005713 obsolete MONDO:0005713 semapv:ManualManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0017361 congenital rubella syndrome semapv:ManualManualMappingCuration +NANDO:2200891 Congenital cytomegalovirus infection skos:exactMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:ManualManualMappingCuration +NANDO:2200892 Congenital toxoplasmosis skos:exactMatch MONDO:0005715 congenital toxoplasmosis semapv:ManualManualMappingCuration +NANDO:2200893 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualManualMappingCuration +NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:exactMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:ManualManualMappingCuration +NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:exactMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:ManualManualMappingCuration +NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:exactMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:ManualManualMappingCuration +NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:exactMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:ManualManualMappingCuration +NANDO:2200899 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration +NANDO:2200900 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualManualMappingCuration +NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualManualMappingCuration +NANDO:2200902 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualManualMappingCuration +NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualManualMappingCuration +NANDO:2200904 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualManualMappingCuration +NANDO:2200906 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualManualMappingCuration +NANDO:2200907 Lactose intolerance skos:exactMatch MONDO:0009116 obsolete lactose intolerance semapv:ManualManualMappingCuration +NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:exactMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:ManualManualMappingCuration +NANDO:2200909 Glucose-galactose malabsorption skos:exactMatch MONDO:0011731 glucose-galactose malabsorption semapv:ManualManualMappingCuration +NANDO:2200910 Enterokinase deficiency skos:exactMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:ManualManualMappingCuration +NANDO:2200911 Amylase deficiency skos:exactMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:ManualManualMappingCuration +NANDO:2200912 Lipase deficiency skos:exactMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:ManualManualMappingCuration +NANDO:2200913 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualManualMappingCuration +NANDO:2200914 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualManualMappingCuration +NANDO:2200915 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 classic familial adenomatous polyposis semapv:ManualManualMappingCuration +NANDO:2200916 Juvenile polyposis skos:exactMatch MONDO:0017380 juvenile polyposis syndrome semapv:ManualManualMappingCuration +NANDO:2200917 Peutz-Jeghers syndrome skos:exactMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:ManualManualMappingCuration +NANDO:2200918 Cowden syndrome skos:exactMatch MONDO:0016063 Cowden disease semapv:ManualManualMappingCuration +NANDO:2200919 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualManualMappingCuration +NANDO:2200920 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualManualMappingCuration +NANDO:2200921 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualManualMappingCuration +NANDO:2200923 Autoimmune enteropathy skos:exactMatch MONDO:0019787 autoimmune enteropathy semapv:ManualManualMappingCuration +NANDO:2200924 IPEX syndrome skos:exactMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualManualMappingCuration +NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualManualMappingCuration +NANDO:2200930 biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualManualMappingCuration +NANDO:2200930 biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualManualMappingCuration +NANDO:2200931 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualManualMappingCuration +NANDO:2200933 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualManualMappingCuration +NANDO:2200934 Caroli disease skos:exactMatch MONDO:0010913 Caroli disease semapv:ManualManualMappingCuration +NANDO:2200934 Caroli disease skos:exactMatch MONDO:0018808 Caroli syndrome semapv:ManualManualMappingCuration +NANDO:2200936 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualManualMappingCuration +NANDO:2200937 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualManualMappingCuration +NANDO:2200941 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualManualMappingCuration +NANDO:2200942 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualManualMappingCuration +NANDO:2200943 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualManualMappingCuration +NANDO:2200944 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualManualMappingCuration +NANDO:2200945 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualManualMappingCuration +NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualManualMappingCuration +NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualManualMappingCuration +NANDO:2200950 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualManualMappingCuration +NANDO:2200951 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualManualMappingCuration +NANDO:2200952 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualManualMappingCuration +NANDO:2200953 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualManualMappingCuration +NANDO:2200954 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualManualMappingCuration +NANDO:2200955 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualManualMappingCuration +NANDO:2200956 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualManualMappingCuration +NANDO:2200957 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualManualMappingCuration +NANDO:2200958 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualManualMappingCuration +NANDO:2200959 Beckwith-Wiedemann syndrome skos:exactMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:ManualManualMappingCuration +NANDO:2200960 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualManualMappingCuration +NANDO:2200961 5p- syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualManualMappingCuration +NANDO:2200962 4p- Syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualManualMappingCuration +NANDO:2200963 Trisomy 18 skos:exactMatch MONDO:0018071 trisomy 18 semapv:ManualManualMappingCuration +NANDO:2200964 Trisomy 13 skos:exactMatch MONDO:0018068 trisomy 13 semapv:ManualManualMappingCuration +NANDO:2200965 Down syndrome skos:exactMatch MONDO:0008608 Down syndrome semapv:ManualManualMappingCuration +NANDO:2200967 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualManualMappingCuration +NANDO:2200968 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualManualMappingCuration +NANDO:2200969 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 Loeys-Dietz syndrome semapv:ManualManualMappingCuration +NANDO:2200970 Camurati-Engelmann disease skos:exactMatch MONDO:0007542 Camurati-Engelmann disease semapv:ManualManualMappingCuration +NANDO:2200971 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualManualMappingCuration +NANDO:2200972 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualManualMappingCuration +NANDO:2200973 Hallermann-Streiff syndrome skos:exactMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:ManualManualMappingCuration +NANDO:2200974 Incontinentia pigmenti skos:exactMatch MONDO:0010631 incontinentia pigmenti semapv:ManualManualMappingCuration +NANDO:2200975 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualManualMappingCuration +NANDO:2200977 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualManualMappingCuration +NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:exactMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:ManualManualMappingCuration +NANDO:2200979 Smith-Lemli-Opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualManualMappingCuration +NANDO:2200980 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualManualMappingCuration +NANDO:2200981 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualManualMappingCuration +NANDO:2200982 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualManualMappingCuration +NANDO:2200983 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualManualMappingCuration +NANDO:2200984 MECP2 duplication syndrome skos:exactMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:ManualManualMappingCuration +NANDO:2200985 Takenouchi-Kosaki syndrome skos:exactMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:ManualManualMappingCuration +NANDO:2200986 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualManualMappingCuration +NANDO:2200987 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualManualMappingCuration +NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualManualMappingCuration +NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualManualMappingCuration +NANDO:2200990 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualManualMappingCuration +NANDO:2200991 Autosomal recessive congenital ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualManualMappingCuration +NANDO:2200992 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualManualMappingCuration +NANDO:2200993 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualManualMappingCuration +NANDO:2200994 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualManualMappingCuration +NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualManualMappingCuration +NANDO:2200998 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualManualMappingCuration +NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:exactMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:ManualManualMappingCuration +NANDO:2201000 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualManualMappingCuration +NANDO:2201001 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualManualMappingCuration +NANDO:2201002 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualManualMappingCuration +NANDO:2201005 Anhidrotic ectodermal dysplasia skos:exactMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:ManualManualMappingCuration +NANDO:2201006 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualManualMappingCuration +NANDO:2201007 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualManualMappingCuration +NANDO:2201008 Thoracic insufficiency syndrome skos:exactMatch MONDO:0015929 thoracic malformation semapv:ManualManualMappingCuration +NANDO:2201009 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualManualMappingCuration +NANDO:2201010 Hypochondroplasia skos:exactMatch MONDO:0007793 hypochondroplasia semapv:ManualManualMappingCuration +NANDO:2201011 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualManualMappingCuration +NANDO:2201012 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualManualMappingCuration +NANDO:2201013 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualManualMappingCuration +NANDO:2201014 Multiple cartilaginous exostosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualManualMappingCuration +NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualManualMappingCuration +NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:ManualManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0016068 fibrochondrogenesis semapv:ManualManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0022800 type 2 collagenopathy semapv:ManualManualMappingCuration +NANDO:2201017 Chondrodysplasia punctata skos:exactMatch MONDO:0019701 chondrodysplasia punctata semapv:ManualManualMappingCuration +NANDO:2201018 Pseudoachondroplasia skos:exactMatch MONDO:0008322 pseudoachondroplasia semapv:ManualManualMappingCuration +NANDO:2201019 Larsen syndrome skos:exactMatch MONDO:0007875 Larsen syndrome semapv:ManualManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualManualMappingCuration +NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:exactMatch MONDO:0018240 TRPV4-related bone disorder semapv:ManualManualMappingCuration +NANDO:2201022 Osteosclerotic diseases skos:exactMatch MONDO:0002933 osteosclerosis semapv:ManualManualMappingCuration +NANDO:2201023 Pycnodysostosis skos:exactMatch MONDO:0009940 pycnodysostosis semapv:ManualManualMappingCuration +NANDO:2201024 Osteopoikilosis skos:exactMatch MONDO:0001414 osteopoikilosis semapv:ManualManualMappingCuration +NANDO:2201026 Beals syndrome skos:exactMatch MONDO:0007363 congenital contractural arachnodactyly semapv:ManualManualMappingCuration +NANDO:2201027 Blue rubber bleb nevus syndrome skos:exactMatch MONDO:0007203 blue rubber bleb nevus semapv:ManualManualMappingCuration +NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualManualMappingCuration +NANDO:2201031 Primary lymphedema skos:exactMatch MONDO:0019175 primary lymphedema semapv:ManualManualMappingCuration +NANDO:2201032 Lymphangioma skos:exactMatch MONDO:0002013 lymphangioma semapv:ManualManualMappingCuration +NANDO:2201033 Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualManualMappingCuration +NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualManualMappingCuration +NANDO:2201035 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualManualMappingCuration +NANDO:2201038 Bilateral retinoblastoma skos:exactMatch MONDO:0003075 bilateral retinoblastoma semapv:ManualManualMappingCuration +NANDO:2201040 Bronchomalacia skos:exactMatch MONDO:0008888 Williams-Campbell syndrome semapv:ManualManualMappingCuration +NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration +NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:exactMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:ManualManualMappingCuration +NANDO:2201047 Familial pulmonary arterial hypertension skos:exactMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:ManualManualMappingCuration +NANDO:2201048 Secondary pulmonary arterial hypertension skos:exactMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:ManualManualMappingCuration +NANDO:2201050 Familial central diabetes insipidus skos:exactMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:ManualManualMappingCuration +NANDO:2201052 Multiple endocrine neoplasia type 2A skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualManualMappingCuration +NANDO:2201053 Multiple endocrine neoplasia type 2B skos:exactMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:ManualManualMappingCuration +NANDO:2201054 Medullary thyroid carcinoma skos:exactMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:ManualManualMappingCuration +NANDO:2201055 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualManualMappingCuration +NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualManualMappingCuration +NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:ManualManualMappingCuration +NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:exactMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:ManualManualMappingCuration +NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:exactMatch MONDO:0011849 psoriatic arthritis semapv:ManualManualMappingCuration +NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:exactMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:ManualManualMappingCuration +NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualManualMappingCuration +NANDO:2201067 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualManualMappingCuration +NANDO:2201068 familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualManualMappingCuration +NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualManualMappingCuration +NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:exactMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:ManualManualMappingCuration +NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:exactMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:ManualManualMappingCuration +NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:exactMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:ManualManualMappingCuration +NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:exactMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:ManualManualMappingCuration +NANDO:2201075 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualManualMappingCuration +NANDO:2201076 BH4 deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualManualMappingCuration +NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualManualMappingCuration +NANDO:2201078 Classic form maple syrup urine disease skos:exactMatch MONDO:0017051 classic maple syrup urine disease semapv:ManualManualMappingCuration +NANDO:2201079 Intermediate maple syrup urine disease skos:exactMatch MONDO:0017052 intermediate maple syrup urine disease semapv:ManualManualMappingCuration +NANDO:2201080 Intermittent maple syrup urine disease skos:exactMatch MONDO:0017053 intermittent maple syrup urine disease semapv:ManualManualMappingCuration +NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:exactMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:ManualManualMappingCuration +NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualManualMappingCuration +NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:ManualManualMappingCuration +NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016601 adult-onset citrullinemia type I semapv:ManualManualMappingCuration +NANDO:2201105 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualManualMappingCuration +NANDO:2201106 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualManualMappingCuration +NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualManualMappingCuration +NANDO:2201108 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualManualMappingCuration +NANDO:2201109 Methylcobalamin deficiency cblE type skos:exactMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:ManualManualMappingCuration +NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:exactMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:ManualManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:ManualManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0021915 arakawa syndrome 2 semapv:ManualManualMappingCuration +NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualManualMappingCuration +NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:ManualManualMappingCuration +NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualManualMappingCuration +NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualManualMappingCuration +NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration +NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualManualMappingCuration +NANDO:2201151 Glycogen storage disease type 0a skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualManualMappingCuration +NANDO:2201152 Glycogen storage disease type 0b skos:exactMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:ManualManualMappingCuration +NANDO:2201153 Glycogen storage disease type 1a skos:exactMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:ManualManualMappingCuration +NANDO:2201154 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualManualMappingCuration +NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:exactMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:ManualManualMappingCuration +NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:exactMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:ManualManualMappingCuration +NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:exactMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:ManualManualMappingCuration +NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:exactMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:ManualManualMappingCuration +NANDO:2201163 Glycogen storage disease type IV, adult form skos:exactMatch MONDO:0009897 adult polyglucosan body disease semapv:ManualManualMappingCuration +NANDO:2201164 Glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualManualMappingCuration +NANDO:2201165 Glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualManualMappingCuration +NANDO:2201166 Glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualManualMappingCuration +NANDO:2201167 Glycogen storage disease type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualManualMappingCuration +NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualManualMappingCuration +NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualManualMappingCuration +NANDO:2201169 Scheie disease skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualManualMappingCuration +NANDO:2201170 Hurler-Scheie disease skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualManualMappingCuration +NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualManualMappingCuration +NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualManualMappingCuration +NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualManualMappingCuration +NANDO:2201174 Mucopolysaccharidosis type III A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualManualMappingCuration +NANDO:2201175 Mucopolysaccharidosis type III B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualManualMappingCuration +NANDO:2201176 Mucopolysaccharidosis type III C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualManualMappingCuration +NANDO:2201177 Mucopolysaccharidosis type III D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualManualMappingCuration +NANDO:2201178 Mucopolysaccharidosis type IV A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualManualMappingCuration +NANDO:2201179 Mucopolysaccharidosis type IV B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualManualMappingCuration +NANDO:2201189 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualManualMappingCuration +NANDO:2201190 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualManualMappingCuration +NANDO:2201191 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualManualMappingCuration +NANDO:2201192 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualManualMappingCuration +NANDO:2201193 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualManualMappingCuration +NANDO:2201196 GM1 gangliosidosis, infantile form skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualManualMappingCuration +NANDO:2201197 GM1 gangliosidosis, juvenile form skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualManualMappingCuration +NANDO:2201198 GM1 gangliosidosis, adult form skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualManualMappingCuration +NANDO:2201199 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualManualMappingCuration +NANDO:2201200 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualManualMappingCuration +NANDO:2201201 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualManualMappingCuration +NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualManualMappingCuration +NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualManualMappingCuration +NANDO:2201204 Metachromatic leukodystrophy, adult form skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualManualMappingCuration +NANDO:2201205 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualManualMappingCuration +NANDO:2201206 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualManualMappingCuration +NANDO:2201207 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualManualMappingCuration +NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualManualMappingCuration +NANDO:2201210 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualManualMappingCuration +NANDO:2201211 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualManualMappingCuration +NANDO:2201212 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualManualMappingCuration +NANDO:2201216 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualManualMappingCuration +NANDO:2201219 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualManualMappingCuration +NANDO:2201229 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualManualMappingCuration +NANDO:2201232 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualManualMappingCuration +NANDO:2201233 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualManualMappingCuration +NANDO:2201235 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualManualMappingCuration +NANDO:2201236 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualManualMappingCuration +NANDO:2201237 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualManualMappingCuration +NANDO:2201238 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualManualMappingCuration +NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration +NANDO:2201248 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualManualMappingCuration +NANDO:2201255 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualManualMappingCuration +NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualManualMappingCuration +NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualManualMappingCuration +NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualManualMappingCuration +NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualManualMappingCuration +NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualManualMappingCuration +NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualManualMappingCuration +NANDO:2201263 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualManualMappingCuration +NANDO:2201264 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualManualMappingCuration +NANDO:2201265 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualManualMappingCuration +NANDO:2201267 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualManualMappingCuration +NANDO:2201269 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualManualMappingCuration +NANDO:2201270 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualManualMappingCuration +NANDO:2201273 α-thalassemia skos:exactMatch MONDO:0011399 alpha thalassemia semapv:ManualManualMappingCuration +NANDO:2201274 β-thalassemia skos:exactMatch MONDO:0019402 beta thalassemia semapv:ManualManualMappingCuration +NANDO:2201275 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualManualMappingCuration +NANDO:2201276 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualManualMappingCuration +NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:ManualManualMappingCuration +NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:ManualManualMappingCuration +NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:ManualManualMappingCuration +NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:ManualManualMappingCuration +NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:ManualManualMappingCuration +NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualManualMappingCuration +NANDO:2201288 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualManualMappingCuration +NANDO:2201289 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualManualMappingCuration +NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualManualMappingCuration +NANDO:2201291 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualManualMappingCuration +NANDO:2201292 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualManualMappingCuration +NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualManualMappingCuration +NANDO:2201294 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualManualMappingCuration +NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualManualMappingCuration +NANDO:2201296 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualManualMappingCuration +NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualManualMappingCuration +NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualManualMappingCuration +NANDO:2201299 AGAT deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualManualMappingCuration +NANDO:2201300 GAMT deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualManualMappingCuration +NANDO:2201301 SLC6A8 deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualManualMappingCuration +NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:exactMatch MONDO:0018112 isolated scaphocephaly semapv:ManualManualMappingCuration +NANDO:2201305 Non-syndromic metopic craniosynostosis skos:exactMatch MONDO:0018065 isolated trigonocephaly semapv:ManualManualMappingCuration +NANDO:2201317 Anti-NMDA receptor encephalitis skos:exactMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:ManualManualMappingCuration +NANDO:2201319 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualManualMappingCuration +NANDO:2201320 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualManualMappingCuration +NANDO:2201321 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualManualMappingCuration +NANDO:2201322 Neuromyelitis optica skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualManualMappingCuration +NANDO:2201341 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualManualMappingCuration +NANDO:2201342 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualManualMappingCuration +NANDO:2201343 Dystrophic epidermolysis bullosa skos:exactMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:ManualManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008702 achondrogenesis type II semapv:ManualManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0019669 hypochondrogenesis semapv:ManualManualMappingCuration +NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:exactMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:ManualManualMappingCuration +NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:ManualManualMappingCuration +NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualManualMappingCuration +NANDO:2201350 Kniest dysplasia skos:exactMatch MONDO:0007987 Kniest dysplasia semapv:ManualManualMappingCuration +NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:exactMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:ManualManualMappingCuration +NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:ManualManualMappingCuration +NANDO:2201354 Stickler syndrome type 1 skos:exactMatch MONDO:0007160 Stickler syndrome type 1 semapv:ManualManualMappingCuration +NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualManualMappingCuration +NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualManualMappingCuration +NANDO:2201358 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualManualMappingCuration +NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:ManualManualMappingCuration +NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualManualMappingCuration +NANDO:2201361 Greenberg dysplasia skos:exactMatch MONDO:0008974 Greenberg dysplasia semapv:ManualManualMappingCuration +NANDO:2201362 Astley-Kendall dysplasia skos:exactMatch MONDO:0019408 Astley-Kendall dysplasia semapv:ManualManualMappingCuration +NANDO:2201364 Melorheostosis skos:exactMatch MONDO:0007970 melorheostosis semapv:ManualManualMappingCuration +NANDO:2201365 Dysosteosclerosis skos:exactMatch MONDO:0009138 dysosteosclerosis semapv:ManualManualMappingCuration +NANDO:2201366 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 craniometaphyseal dysplasia semapv:ManualManualMappingCuration +NANDO:2201367 Metaphyseal dysplasias skos:exactMatch MONDO:0009943 Pyle disease semapv:ManualManualMappingCuration +NANDO:2201368 Craniodiaphyseal dysplasia skos:exactMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:ManualManualMappingCuration +NANDO:2201369 Sclerosteosis skos:exactMatch MONDO:0017838 sclerosteosis semapv:ManualManualMappingCuration +NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualManualMappingCuration +NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:ManualManualMappingCuration +NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualManualMappingCuration +NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualManualMappingCuration +NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:ManualManualMappingCuration +NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:ManualManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0009326 congenital heart block semapv:ManualManualMappingCuration +NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:ManualManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:ManualManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:ManualManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0019328 macrocystic lymphatic malformation semapv:ManualManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0007099 familial visceral amyloidosis semapv:ManualManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0007879 larynx atresia semapv:ManualManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualManualMappingCuration +NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0015446 atypical coarctation of aorta semapv:ManualManualMappingCuration +NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:ManualManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualManualMappingCuration +NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualManualMappingCuration +NANDO:1200174 Chronic progressive external ophthalmoplegia skos:exactMatch MONDO:0005181 progressive external ophthalmoplegia semapv:ManualManualMappingCuration +NANDO:1201032 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualManualMappingCuration +NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualManualMappingCuration +NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualManualMappingCuration +NANDO:1201035 Creatine transporter deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualManualMappingCuration +NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualManualMappingCuration +NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualManualMappingCuration +NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:exactMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:ManualManualMappingCuration +NANDO:1201038 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualManualMappingCuration +NANDO:1201039 Homocystinuria type 1 skos:exactMatch MONDO:0009352 classic homocystinuria semapv:ManualManualMappingCuration +NANDO:1201040 Homocystinuria type 2 skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualManualMappingCuration +NANDO:1201041 Homocystinuria type 3 skos:exactMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:ManualManualMappingCuration +NANDO:1201042 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualManualMappingCuration +NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:ManualManualMappingCuration +NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:ManualManualMappingCuration +NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:ManualManualMappingCuration +NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:ManualManualMappingCuration +NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:ManualManualMappingCuration +NANDO:1201048 Acquired factor X inhibitor skos:exactMatch MONDO:0021134 acquired factor X deficiency semapv:ManualManualMappingCuration +NANDO:1201049 Senior-Loken syndrome skos:exactMatch MONDO:0017842 Senior-Loken syndrome semapv:ManualManualMappingCuration +NANDO:1201050 COACH syndrome skos:exactMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:ManualManualMappingCuration +NANDO:1201051 Oral-facial-digital syndrome skos:exactMatch MONDO:0015375 orofaciodigital syndrome semapv:ManualManualMappingCuration +NANDO:1201056 End-plate acetylcholine esterase deficiency skos:exactMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:ManualManualMappingCuration +NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:exactMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:ManualManualMappingCuration +NANDO:1201058 RAPADILINO syndrome skos:exactMatch MONDO:0009955 rapadilino syndrome semapv:ManualManualMappingCuration +NANDO:1201059 Baller-Gerold syndrome skos:exactMatch MONDO:0009039 Baller-Gerold syndrome semapv:ManualManualMappingCuration +NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualManualMappingCuration +NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:exactMatch MONDO:0019731 AApoAI amyloidosis semapv:ManualManualMappingCuration +NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:exactMatch MONDO:0007097 Finnish type amyloidosis semapv:ManualManualMappingCuration +NANDO:1201064 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualManualMappingCuration +NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualManualMappingCuration +NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualManualMappingCuration +NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:exactMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:ManualManualMappingCuration +NANDO:1201068 Agyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualManualMappingCuration +NANDO:1201068 Agyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualManualMappingCuration +NANDO:1201069 Pachygyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualManualMappingCuration +NANDO:1201069 Pachygyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualManualMappingCuration +NANDO:1201070 Subcortical band heterotopia skos:exactMatch MONDO:0020491 subcortical band heterotopia semapv:ManualManualMappingCuration +NANDO:1201079 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 periventricular nodular heterotopia semapv:ManualManualMappingCuration +NANDO:1201071 Polymicrogyria skos:exactMatch MONDO:0000087 polymicrogyria semapv:ManualManualMappingCuration +NANDO:1201072 Cobblestone brain malformation skos:exactMatch MONDO:0018869 cobblestone lissencephaly semapv:ManualManualMappingCuration +NANDO:1201073 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualManualMappingCuration +NANDO:1201074 Porencephaly skos:exactMatch MONDO:0017410 porencephaly semapv:ManualManualMappingCuration +NANDO:1201080 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualManualMappingCuration +NANDO:1201081 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualManualMappingCuration +NANDO:1201083 Miller Dieker syndrome skos:exactMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:ManualManualMappingCuration +NANDO:1201075 Pseudohypoparathyroidism type 1A skos:exactMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:ManualManualMappingCuration +NANDO:1201076 Pseudohypoparathyroidism type 1B skos:exactMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:ManualManualMappingCuration +NANDO:1201077 Pseudohypoparathyroidism type 1C skos:exactMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:ManualManualMappingCuration +NANDO:1201078 Pseudohypoparathyroidism type 2 skos:exactMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:ManualManualMappingCuration +NANDO:2201385 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualManualMappingCuration +NANDO:1200892 Hereditary sideroblastic anemia skos:exactMatch MONDO:0020099 inherited sideroblastic anemia semapv:ManualManualMappingCuration +NANDO:1200079 Late infantile metachromatic leukodystrophy skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualManualMappingCuration +NANDO:1200081 Adult metachromatic leukodystrophy skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualManualMappingCuration +NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualManualMappingCuration +NANDO:1200428 Pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualManualMappingCuration +NANDO:1200480 Minicore myopathy skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualManualMappingCuration +NANDO:1200568 Focal cortical dysplasia type 2a skos:exactMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:ManualManualMappingCuration +NANDO:1200569 Focal cortical dysplasia type 2b skos:exactMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:ManualManualMappingCuration +NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualManualMappingCuration +NANDO:1200693 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualManualMappingCuration +NANDO:1200751 Alveolar hypoventilation syndrome skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualManualMappingCuration +NANDO:1200817 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualManualMappingCuration +NANDO:1200831 Phosphoglycerate kinase deficiency skos:exactMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:ManualManualMappingCuration +NANDO:1200889 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualManualMappingCuration +NANDO:1200995 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualManualMappingCuration +NANDO:2200054 Primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualManualMappingCuration +NANDO:2200111 Diffuse mesangial sclerosis skos:exactMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:ManualManualMappingCuration +NANDO:2200197 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualManualMappingCuration +NANDO:2200261 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualManualMappingCuration +NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:exactMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:ManualManualMappingCuration +NANDO:2200374 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualManualMappingCuration +NANDO:2200384 Ovarian dysgenesis skos:exactMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:ManualManualMappingCuration +NANDO:2200389 5 alpha-reductase deficiency skos:exactMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:ManualManualMappingCuration +NANDO:2200425 Polyangiitis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualManualMappingCuration +NANDO:2200441 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualManualMappingCuration +NANDO:2200450 Deficiency of the enzyme ADA2 skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualManualMappingCuration +NANDO:2200459 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualManualMappingCuration +NANDO:2200603 Familial combined hyperlipidemia skos:exactMatch MONDO:0001336 familial hyperlipidemia semapv:ManualManualMappingCuration +NANDO:2200610 Congenital porphyria skos:exactMatch MONDO:0019142 inherited porphyria semapv:ManualManualMappingCuration +NANDO:2200613 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualManualMappingCuration +NANDO:2200672 Afibrinogenemia skos:exactMatch MONDO:0008737 congenital afibrinogenemia semapv:ManualManualMappingCuration +NANDO:2200673 Hypoprothrombinemia skos:exactMatch MONDO:0013361 congenital prothrombin deficiency semapv:ManualManualMappingCuration +NANDO:2200700 ZAP-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualManualMappingCuration +NANDO:2200737 STAT5b deficiency skos:exactMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:ManualManualMappingCuration +NANDO:2200773 CARD9 deficiency skos:exactMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:ManualManualMappingCuration +NANDO:2200788 Factor D deficiency skos:exactMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:ManualManualMappingCuration +NANDO:2200790 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualManualMappingCuration +NANDO:2200793 MASP2 deficiency skos:exactMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:ManualManualMappingCuration +NANDO:2200794 Ficolin 3 Deficiency skos:exactMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:ManualManualMappingCuration +NANDO:2200798 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualManualMappingCuration +NANDO:2200872 Minicore myopathy skos:exactMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:ManualManualMappingCuration +NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:ManualManualMappingCuration +NANDO:2201268 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualManualMappingCuration +NANDO:2201277 Secondary aplastic anemia skos:exactMatch MONDO:0015610 acquired aplastic anemia semapv:ManualManualMappingCuration +NANDO:2201351 Spondyloperipheral dysplasia skos:exactMatch MONDO:0010078 spondyloperipheral dysplasia semapv:ManualManualMappingCuration From d104afce738eceb59b6b03aaf4f80ffaa0e4d083 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Thu, 16 May 2024 16:50:36 +0300 Subject: [PATCH 03/14] Update mondo-ingest.Makefile --- src/ontology/mondo-ingest.Makefile | 11 ++++++++++- 1 file changed, 10 insertions(+), 1 deletion(-) diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 922d38b0..3dc6da83 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -585,7 +585,16 @@ $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv: tmp/ordo-subsets.tsv tmp/mondo.s .PHONY: external-content-ordo external-content-ordo: $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.owl $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv -update-externally-managed-content: external-content-nord external-content-ordo +$(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv: $(MAPPINGSDIR)/nando-mondo.sssom.tsv + mkdir -p $(EXTERNAL_CONTENT_DIR) + # python $< $@ .... TODO @joeflack4 to fill in +.PRECIOUS: $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv + +.PHONY: external-content-nord external-content-nando +external-content-nord: $(EXTERNAL_CONTENT_DIR)/nord.robot.owl +external-content-nando: $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.owl + +update-externally-managed-content: external-content-nord external-content-nando external-content-ordo ############################# ######### Analysis ########## From 2276a7f5458836b7d52fc313f1016079b9dcdb05 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 17 May 2024 10:15:22 +0300 Subject: [PATCH 04/14] Update mondo-nando.sssom.tsv --- src/mappings/mondo-nando.sssom.tsv | 4690 ++++++++++++++-------------- 1 file changed, 2345 insertions(+), 2345 deletions(-) diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index c037f184..505a746d 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -10,2348 +10,2348 @@ #mapping_set_description: "This mapping set is manually curated by the NANDO team at nanbyodata.jp." #mapping_provider: "http://nanbyodata.jp" subject_id subject_label predicate_id object_id object_label mapping_justification -NANDO:1100001 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualManualMappingCuration -NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0004955 obsolete metabolic syndrome semapv:ManualManualMappingCuration -NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0005066 metabolic disease semapv:ManualManualMappingCuration -NANDO:1100004 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualManualMappingCuration -NANDO:1100005 Cardiovascular disease skos:exactMatch MONDO:0004995 cardiovascular disorder semapv:ManualManualMappingCuration -NANDO:1100006 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualManualMappingCuration -NANDO:1100009 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualManualMappingCuration -NANDO:1100010 Respiratory disease skos:exactMatch MONDO:0005087 respiratory system disorder semapv:ManualManualMappingCuration -NANDO:1100013 Gastrointestinal disease skos:exactMatch MONDO:0004335 digestive system disorder semapv:ManualManualMappingCuration -NANDO:1100014 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualManualMappingCuration -NANDO:1100015 Otorhinolaryngological disease skos:exactMatch MONDO:0024623 otorhinolaryngologic disease semapv:ManualManualMappingCuration -NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0010735 Kennedy disease semapv:ManualManualMappingCuration -NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0016113 bulbospinal muscular atrophy semapv:ManualManualMappingCuration -NANDO:1200002 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:ManualManualMappingCuration -NANDO:1200003 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualManualMappingCuration -NANDO:1200004 Spinal muscular atrophy type I skos:exactMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:ManualManualMappingCuration -NANDO:1200005 Spinal muscular atrophy type II skos:exactMatch MONDO:0009673 spinal muscular atrophy, type II semapv:ManualManualMappingCuration -NANDO:1200006 Spinal muscular atrophy type III skos:exactMatch MONDO:0009672 spinal muscular atrophy, type III semapv:ManualManualMappingCuration -NANDO:1200007 Spinal muscular atrophy type IV skos:exactMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:ManualManualMappingCuration -NANDO:1200008 Primary lateral sclerosis skos:exactMatch MONDO:0018155 lateral sclerosis semapv:ManualManualMappingCuration -NANDO:1200009 Progressive supranuclear palsy skos:exactMatch MONDO:0019037 progressive supranuclear palsy semapv:ManualManualMappingCuration -NANDO:1200010 Parkinson's disease skos:exactMatch MONDO:0005180 Parkinson disease semapv:ManualManualMappingCuration -NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022308 corticobasal degeneration disorder semapv:ManualManualMappingCuration -NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022880 obsolete corticobasal degeneration semapv:ManualManualMappingCuration -NANDO:1200012 Huntington's disease skos:exactMatch MONDO:0007739 Huntington disease semapv:ManualManualMappingCuration -NANDO:1200013 Neuroacanthocytosis skos:exactMatch MONDO:0016987 neuroacanthocytosis semapv:ManualManualMappingCuration -NANDO:1200014 Chorea-acanthocytosis skos:exactMatch MONDO:0008695 chorea-acanthocytosis semapv:ManualManualMappingCuration -NANDO:1200015 McLeod syndrome skos:exactMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:ManualManualMappingCuration -NANDO:1200016 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualManualMappingCuration -NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:exactMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:ManualManualMappingCuration -NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:exactMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:ManualManualMappingCuration -NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:exactMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:ManualManualMappingCuration -NANDO:1200020 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualManualMappingCuration -NANDO:1200021 Congenital myasthenic syndrome skos:exactMatch MONDO:0018940 congenital myasthenic syndrome semapv:ManualManualMappingCuration -NANDO:1200023 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualManualMappingCuration -NANDO:1200024 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualManualMappingCuration -NANDO:1200025 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualManualMappingCuration -NANDO:1200026 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualManualMappingCuration -NANDO:1200027 Neuromyelitis optica spectrum disorders skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualManualMappingCuration -NANDO:1200028 Baló concentric sclerosis skos:exactMatch MONDO:0016430 Balo concentric sclerosis semapv:ManualManualMappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualManualMappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualManualMappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualManualMappingCuration -NANDO:1200031 Multifocal motor neuropathy skos:exactMatch MONDO:0018979 multifocal motor neuropathy semapv:ManualManualMappingCuration -NANDO:1200032 Sporadic inclusion body myositis skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualManualMappingCuration -NANDO:1200033 Crow-Fukase syndrome skos:exactMatch MONDO:0017364 POEMS syndrome semapv:ManualManualMappingCuration -NANDO:1200034 Multiple system atrophy skos:exactMatch MONDO:0007803 multiple system atrophy semapv:ManualManualMappingCuration -NANDO:1200035 Multiple system atrophy, cerebellar type skos:exactMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:ManualManualMappingCuration -NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:exactMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:ManualManualMappingCuration -NANDO:1200037 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualManualMappingCuration -NANDO:1200041 Spinocerebellar ataxia type 3 skos:exactMatch MONDO:0007182 Machado-Joseph disease semapv:ManualManualMappingCuration -NANDO:1200042 Spinocerebellar ataxia type 6 skos:exactMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:ManualManualMappingCuration -NANDO:1200043 Dentatorubropallidoluysian atrophy skos:exactMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:ManualManualMappingCuration -NANDO:1200044 Spinocerebellar ataxia type 31 skos:exactMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:ManualManualMappingCuration -NANDO:1200045 Spinocerebellar ataxia type 1 skos:exactMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:ManualManualMappingCuration -NANDO:1200046 Spinocerebellar ataxia type 2 skos:exactMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:ManualManualMappingCuration -NANDO:1200047 Spinocerebellar ataxia type 7 skos:exactMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:ManualManualMappingCuration -NANDO:1200048 Spinocerebellar ataxia type 36 skos:exactMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:ManualManualMappingCuration -NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:exactMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:ManualManualMappingCuration -NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:exactMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualManualMappingCuration -NANDO:1200052 Hereditary spastic paraplegia skos:exactMatch MONDO:0019064 hereditary spastic paraplegia semapv:ManualManualMappingCuration -NANDO:1200053 Pure hereditary spastic paraplegia skos:exactMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:ManualManualMappingCuration -NANDO:1200054 Complex hereditary spastic paraplegia skos:exactMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:ManualManualMappingCuration -NANDO:1200055 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualManualMappingCuration -NANDO:1200056 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualManualMappingCuration -NANDO:1200057 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualManualMappingCuration -NANDO:1200058 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualManualMappingCuration -NANDO:1200059 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualManualMappingCuration -NANDO:1200061 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualManualMappingCuration -NANDO:1200062 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualManualMappingCuration -NANDO:1200063 Niemann-Pick disease type C skos:exactMatch MONDO:0018982 Niemann-Pick disease type C semapv:ManualManualMappingCuration -NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualManualMappingCuration -NANDO:1200066 GM1 gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualManualMappingCuration -NANDO:1200067 Infantile GM1 gangliosidosis skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualManualMappingCuration -NANDO:1200068 Juvenile GM1 gangliosidosis skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualManualMappingCuration -NANDO:1200069 Adult GM1 gangliosidosis skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualManualMappingCuration -NANDO:1200070 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualManualMappingCuration -NANDO:1200071 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualManualMappingCuration -NANDO:1200072 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualManualMappingCuration -NANDO:1200073 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualManualMappingCuration -NANDO:1200074 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualManualMappingCuration -NANDO:1200075 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualManualMappingCuration -NANDO:1200077 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualManualMappingCuration -NANDO:1200078 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualManualMappingCuration -NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualManualMappingCuration -NANDO:1200082 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualManualMappingCuration -NANDO:1200083 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualManualMappingCuration -NANDO:1200086 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualManualMappingCuration -NANDO:1200094 Hurler syndrome skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualManualMappingCuration -NANDO:1200095 Scheie syndrome skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualManualMappingCuration -NANDO:1200096 Hurler-Scheie syndrome skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualManualMappingCuration -NANDO:1200097 Hunter syndrome skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualManualMappingCuration -NANDO:1200098 Hunter syndrome type A skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualManualMappingCuration -NANDO:1200099 Hunter syndrome type B skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualManualMappingCuration -NANDO:1200100 Sanfilippo disease skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualManualMappingCuration -NANDO:1200101 Sanfilippo disease type A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualManualMappingCuration -NANDO:1200102 Sanfilippo disease type B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualManualMappingCuration -NANDO:1200103 Sanfilippo disease type C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualManualMappingCuration -NANDO:1200104 Sanfilippo disease type D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualManualMappingCuration -NANDO:1200105 Morquio syndrome skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualManualMappingCuration -NANDO:1200106 Morquio syndrome type A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualManualMappingCuration -NANDO:1200107 Morquio syndrome type B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualManualMappingCuration -NANDO:1200108 Maroteaux-Lamy syndrome skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualManualMappingCuration -NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualManualMappingCuration -NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualManualMappingCuration -NANDO:1200111 Sly syndrome skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualManualMappingCuration -NANDO:1200115 Hyaluronidase deficiency skos:exactMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:ManualManualMappingCuration -NANDO:1200116 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualManualMappingCuration -NANDO:1200117 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualManualMappingCuration -NANDO:1200118 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualManualMappingCuration -NANDO:1200119 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualManualMappingCuration -NANDO:1200120 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualManualMappingCuration -NANDO:1200124 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualManualMappingCuration -NANDO:1200125 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualManualMappingCuration -NANDO:1200126 Alpha-mannosidosis skos:exactMatch MONDO:0009561 alpha-mannosidosis semapv:ManualManualMappingCuration -NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualManualMappingCuration -NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualManualMappingCuration -NANDO:1200128 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualManualMappingCuration -NANDO:1200129 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualManualMappingCuration -NANDO:1200130 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualManualMappingCuration -NANDO:1200133 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualManualMappingCuration -NANDO:1200134 Schindler disease skos:exactMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:ManualManualMappingCuration -NANDO:1200135 Schindler disease type I skos:exactMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:ManualManualMappingCuration -NANDO:1200136 Schindler disease type 2 skos:exactMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:ManualManualMappingCuration -NANDO:1200137 Schindler disease type 3 skos:exactMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:ManualManualMappingCuration -NANDO:1200138 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualManualMappingCuration -NANDO:1200139 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualManualMappingCuration -NANDO:1200142 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualManualMappingCuration -NANDO:1200143 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualManualMappingCuration -NANDO:1200144 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualManualMappingCuration -NANDO:1200145 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualManualMappingCuration -NANDO:1200146 Free sialic acid storage disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualManualMappingCuration -NANDO:1200147 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualManualMappingCuration -NANDO:1200148 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualManualMappingCuration -NANDO:1200149 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualManualMappingCuration -NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualManualMappingCuration -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualManualMappingCuration -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:1200157 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualManualMappingCuration -NANDO:1200161 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualManualMappingCuration -NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualManualMappingCuration -NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualManualMappingCuration -NANDO:1200163 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualManualMappingCuration -NANDO:1200164 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualManualMappingCuration -NANDO:1200165 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualManualMappingCuration -NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualManualMappingCuration -NANDO:1200168 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualManualMappingCuration -NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualManualMappingCuration -NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualManualMappingCuration -NANDO:1200175 Leigh's encephalomyelopathy skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualManualMappingCuration -NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualManualMappingCuration -NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualManualMappingCuration -NANDO:1200178 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualManualMappingCuration -NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100133 mitochondrial complex I deficiency semapv:ManualManualMappingCuration -NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:ManualManualMappingCuration -NANDO:1200181 Mitochondrial complex II deficiency skos:exactMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:ManualManualMappingCuration -NANDO:1200183 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualManualMappingCuration -NANDO:1200186 Prion disease skos:exactMatch MONDO:0005429 prion disease semapv:ManualManualMappingCuration -NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration -NANDO:1200188 Genetic prion diseases skos:exactMatch MONDO:0017234 inherited prion disease semapv:ManualManualMappingCuration -NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration -NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:ManualManualMappingCuration -NANDO:1200191 Fatal familial insomnia skos:exactMatch MONDO:0010808 fatal familial insomnia semapv:ManualManualMappingCuration -NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:exactMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration -NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration -NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:ManualManualMappingCuration -NANDO:1200195 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration -NANDO:1200196 Typical subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration -NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration -NANDO:1200205 Progressive multifocal leukoencephalopathy skos:exactMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:ManualManualMappingCuration -NANDO:1200206 HTLV-1-associated myelopathy skos:exactMatch MONDO:0008039 tropical spastic paraparesis semapv:ManualManualMappingCuration -NANDO:1200207 Idiopathic basal ganglia calcification skos:exactMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:ManualManualMappingCuration -NANDO:1200208 Familial idiopathic basal ganglia calcification skos:exactMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:ManualManualMappingCuration -NANDO:1200209 Systemic amyloidosis skos:exactMatch MONDO:0017816 primary systemic amyloidosis semapv:ManualManualMappingCuration -NANDO:1200211 Amyloid light-chain amyloidosis skos:exactMatch MONDO:0019438 AL amyloidosis semapv:ManualManualMappingCuration -NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:exactMatch MONDO:0018018 wild type ATTR amyloidosis semapv:ManualManualMappingCuration -NANDO:1200214 Familial amyloid polyneuropathy skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualManualMappingCuration -NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualManualMappingCuration -NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:ManualManualMappingCuration -NANDO:1200216 Distal myopathy skos:exactMatch MONDO:0018949 distal myopathy semapv:ManualManualMappingCuration -NANDO:1200217 Miyoshi myopathy skos:exactMatch MONDO:0009685 Miyoshi myopathy semapv:ManualManualMappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualManualMappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0011603 GNE myopathy semapv:ManualManualMappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:ManualManualMappingCuration -NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:ManualManualMappingCuration -NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 oculopharyngodistal myopathy semapv:ManualManualMappingCuration -NANDO:1200220 Bethlem Myopathy skos:exactMatch MONDO:0008029 Bethlem myopathy semapv:ManualManualMappingCuration -NANDO:1200222 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualManualMappingCuration -NANDO:1200223 X-linked Myopathy with excessive autophagy skos:exactMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:ManualManualMappingCuration -NANDO:1200224 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualManualMappingCuration -NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualManualMappingCuration -NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualManualMappingCuration -NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualManualMappingCuration -NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualManualMappingCuration -NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0007039 neurofibromatosis type 2 semapv:ManualManualMappingCuration -NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualManualMappingCuration -NANDO:1200228 Pemphigus skos:exactMatch MONDO:0006594 pemphigus semapv:ManualManualMappingCuration -NANDO:1200229 Pemphigus vulgaris skos:exactMatch MONDO:0008219 pemphigus vulgaris semapv:ManualManualMappingCuration -NANDO:1200230 Pemphigus foliaceus skos:exactMatch MONDO:0019324 pemphigus foliaceus semapv:ManualManualMappingCuration -NANDO:1200231 Paraneoplastic pemphigus skos:exactMatch MONDO:0018974 paraneoplastic pemphigus semapv:ManualManualMappingCuration -NANDO:1200232 Pemphigus vegetans skos:exactMatch MONDO:0019322 pemphigus vegetans semapv:ManualManualMappingCuration -NANDO:1200233 Pemphigus erythematosus skos:exactMatch MONDO:0019323 pemphigus erythematosus semapv:ManualManualMappingCuration -NANDO:1200234 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualManualMappingCuration -NANDO:1200235 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualManualMappingCuration -NANDO:1200236 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualManualMappingCuration -NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualManualMappingCuration -NANDO:1200239 Kindler syndrome skos:exactMatch MONDO:0008260 Kindler syndrome semapv:ManualManualMappingCuration -NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:ManualManualMappingCuration -NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualManualMappingCuration -NANDO:1200243 Impetigo herpetiformis skos:exactMatch MONDO:0004591 impetigo herpetiformis semapv:ManualManualMappingCuration -NANDO:1200244 Acrodermatitis continua of Hallopeau skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualManualMappingCuration -NANDO:1200245 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualManualMappingCuration -NANDO:1200246 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualManualMappingCuration -NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualManualMappingCuration -NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualManualMappingCuration -NANDO:1200258 Giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualManualMappingCuration -NANDO:1200259 Cranial giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualManualMappingCuration -NANDO:1200260 Large-vessel giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualManualMappingCuration -NANDO:1200261 Polyarteritis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualManualMappingCuration -NANDO:1200262 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualManualMappingCuration -NANDO:1200263 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualManualMappingCuration -NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualManualMappingCuration -NANDO:1200265 Rheumatoid vasculitis skos:exactMatch MONDO:0043267 rheumatoid vasculitis semapv:ManualManualMappingCuration -NANDO:1200266 Buerger's disease skos:exactMatch MONDO:0008889 thromboangiitis obliterans semapv:ManualManualMappingCuration -NANDO:1200267 Primary antiphospholipid antibody syndrome skos:exactMatch MONDO:0005204 primary antiphospholipid syndrome semapv:ManualManualMappingCuration -NANDO:1200270 Catastrophic antiphospholipid syndrome skos:exactMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:ManualManualMappingCuration -NANDO:1200271 Antiphospholipid antibody-related disease skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualManualMappingCuration -NANDO:1200272 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualManualMappingCuration -NANDO:1200274 Dermatomyositis skos:exactMatch MONDO:0016367 dermatomyositis semapv:ManualManualMappingCuration -NANDO:1200275 Amyopathic dermatomyositis skos:exactMatch MONDO:0043317 amyopathic dermatomyositis semapv:ManualManualMappingCuration -NANDO:1200276 Polymyositis skos:exactMatch MONDO:0019127 polymyositis semapv:ManualManualMappingCuration -NANDO:1200277 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualManualMappingCuration -NANDO:1200278 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualManualMappingCuration -NANDO:1200279 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualManualMappingCuration -NANDO:1200280 Primary Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualManualMappingCuration -NANDO:1200282 Adult Still's disease skos:exactMatch MONDO:0019355 adult-onset Still disease semapv:ManualManualMappingCuration -NANDO:1200283 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualManualMappingCuration -NANDO:1200284 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualManualMappingCuration -NANDO:1200286 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration -NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration -NANDO:1200292 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualManualMappingCuration -NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualManualMappingCuration -NANDO:1200294 Secondary restrictive cardiomyopathy skos:exactMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:ManualManualMappingCuration -NANDO:1200295 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualManualMappingCuration -NANDO:1200296 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualManualMappingCuration -NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualManualMappingCuration -NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualManualMappingCuration -NANDO:1200302 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualManualMappingCuration -NANDO:1200303 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualManualMappingCuration -NANDO:1200304 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualManualMappingCuration -NANDO:1200305 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualManualMappingCuration -NANDO:1200306 Warm antibody hemolytic anemia skos:exactMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:ManualManualMappingCuration -NANDO:1200307 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualManualMappingCuration -NANDO:1200308 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualManualMappingCuration -NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:exactMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:ManualManualMappingCuration -NANDO:1200310 Evans syndrome skos:exactMatch MONDO:0016030 Evans syndrome semapv:ManualManualMappingCuration -NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualManualMappingCuration -NANDO:1200315 Idiopathic thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualManualMappingCuration -NANDO:1200316 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration -NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration -NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration -NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration -NANDO:1200320 Primary immunodeficiency syndrome skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualManualMappingCuration -NANDO:1200321 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualManualMappingCuration -NANDO:1200322 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualManualMappingCuration -NANDO:1200323 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualManualMappingCuration -NANDO:1200324 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualManualMappingCuration -NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualManualMappingCuration -NANDO:1200326 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualManualMappingCuration -NANDO:1200327 Zap-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualManualMappingCuration -NANDO:1200328 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualManualMappingCuration -NANDO:1200329 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualManualMappingCuration -NANDO:1200330 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualManualMappingCuration -NANDO:1200331 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualManualMappingCuration -NANDO:1200332 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualManualMappingCuration -NANDO:1200333 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualManualMappingCuration -NANDO:1200334 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualManualMappingCuration -NANDO:1200336 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualManualMappingCuration -NANDO:1200337 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualManualMappingCuration -NANDO:1200338 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualManualMappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualManualMappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualManualMappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualManualMappingCuration -NANDO:1200340 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualManualMappingCuration -NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualManualMappingCuration -NANDO:1200342 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualManualMappingCuration -NANDO:1200343 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualManualMappingCuration -NANDO:1200344 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualManualMappingCuration -NANDO:1200345 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualManualMappingCuration -NANDO:1200346 IgG subclass deficiency skos:exactMatch MONDO:0045045 selective IgG immunodeficiency semapv:ManualManualMappingCuration -NANDO:1200347 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualManualMappingCuration -NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualManualMappingCuration -NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualManualMappingCuration -NANDO:1200350 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualManualMappingCuration -NANDO:1200351 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualManualMappingCuration -NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualManualMappingCuration -NANDO:1200353 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualManualMappingCuration -NANDO:1200354 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualManualMappingCuration -NANDO:1200355 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualManualMappingCuration -NANDO:1200356 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualManualMappingCuration -NANDO:1200357 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualManualMappingCuration -NANDO:1200358 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualManualMappingCuration -NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualManualMappingCuration -NANDO:1200361 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualManualMappingCuration -NANDO:1200362 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualManualMappingCuration -NANDO:1200363 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualManualMappingCuration -NANDO:1200364 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualManualMappingCuration -NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualManualMappingCuration -NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualManualMappingCuration -NANDO:1200366 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200367 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualManualMappingCuration -NANDO:1200368 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualManualMappingCuration -NANDO:1200369 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualManualMappingCuration -NANDO:1200371 Ossification of posterior longitudinal ligament skos:exactMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:ManualManualMappingCuration -NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:exactMatch MONDO:0005965 spinal stenosis semapv:ManualManualMappingCuration -NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:exactMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:ManualManualMappingCuration -NANDO:1200375 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualManualMappingCuration -NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualManualMappingCuration -NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:exactMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:ManualManualMappingCuration -NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:exactMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:ManualManualMappingCuration -NANDO:1200379 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualManualMappingCuration -NANDO:1200381 Central precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualManualMappingCuration -NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:exactMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualManualMappingCuration -NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:exactMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:ManualManualMappingCuration -NANDO:1200385 Growth hormone secreting pituitary adenoma skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualManualMappingCuration -NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualManualMappingCuration -NANDO:1200387 Hypopituitarism syndrome skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualManualMappingCuration -NANDO:1200388 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualManualMappingCuration -NANDO:1200390 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualManualMappingCuration -NANDO:1200394 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualManualMappingCuration -NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualManualMappingCuration -NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualManualMappingCuration -NANDO:1200396 Congenital adrenal enzyme deficiency skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualManualMappingCuration -NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualManualMappingCuration -NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:1200399 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualManualMappingCuration -NANDO:1200400 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualManualMappingCuration -NANDO:1200401 17-α-Hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualManualMappingCuration -NANDO:1200402 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualManualMappingCuration -NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualManualMappingCuration -NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration -NANDO:1200404 DAX1 abnormality skos:exactMatch MONDO:0010226 46,XY sex reversal 2 semapv:ManualManualMappingCuration -NANDO:1200405 SF-1 abnormality skos:exactMatch MONDO:0013066 46,XY sex reversal 3 semapv:ManualManualMappingCuration -NANDO:1200406 IMAge syndrome skos:exactMatch MONDO:0013873 IMAGe syndrome semapv:ManualManualMappingCuration -NANDO:1200408 MC2R deficiency skos:exactMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:ManualManualMappingCuration -NANDO:1200409 MRAP deficiency skos:exactMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:ManualManualMappingCuration -NANDO:1200410 Allgrove syndrome skos:exactMatch MONDO:0009279 triple-A syndrome semapv:ManualManualMappingCuration -NANDO:1200411 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualManualMappingCuration -NANDO:1200411 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualManualMappingCuration -NANDO:1200412 Autoimmune Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualManualMappingCuration -NANDO:1200415 Sarcoidosis skos:exactMatch MONDO:0019338 sarcoidosis semapv:ManualManualMappingCuration -NANDO:1200416 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualManualMappingCuration -NANDO:1200417 Idiopathic pulmonary fibrosis skos:exactMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:ManualManualMappingCuration -NANDO:1200419 Non-specific interstitial pneumonia skos:exactMatch MONDO:0019622 non-specific interstitial pneumonia semapv:ManualManualMappingCuration -NANDO:1200420 Acute interstitial pneumonia skos:exactMatch MONDO:0019203 acute interstitial pneumonia semapv:ManualManualMappingCuration -NANDO:1200421 Cryptogenic organizing pneumonia skos:exactMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:ManualManualMappingCuration -NANDO:1200422 Desquamative interstitial pneumonia skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualManualMappingCuration -NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualManualMappingCuration -NANDO:1200424 Lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:ManualManualMappingCuration -NANDO:1200425 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualManualMappingCuration -NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualManualMappingCuration -NANDO:1200427 Pulmonary veno-occlusive disease skos:exactMatch MONDO:0009937 pulmonary venoocclusive disease semapv:ManualManualMappingCuration -NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:exactMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:ManualManualMappingCuration -NANDO:1200430 Lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 lymphangioleiomyomatosis semapv:ManualManualMappingCuration -NANDO:1200431 Retinitis pigmentosa skos:exactMatch MONDO:0019200 retinitis pigmentosa semapv:ManualManualMappingCuration -NANDO:1200437 Budd-Chiari syndrome skos:exactMatch MONDO:0010947 Budd-Chiari syndrome semapv:ManualManualMappingCuration -NANDO:1200438 Idiopathic portal hypertension skos:exactMatch MONDO:0021969 Banti syndrome semapv:ManualManualMappingCuration -NANDO:1200439 Primary biliary cholangitis skos:exactMatch MONDO:0005388 primary biliary cholangitis semapv:ManualManualMappingCuration -NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualManualMappingCuration -NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualManualMappingCuration -NANDO:1200441 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualManualMappingCuration -NANDO:1200442 Typical autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualManualMappingCuration -NANDO:1200444 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualManualMappingCuration -NANDO:1200445 small bowel Crohn disease skos:exactMatch MONDO:0005539 small bowel Crohn disease semapv:ManualManualMappingCuration -NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualManualMappingCuration -NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005532 Crohn's colitis semapv:ManualManualMappingCuration -NANDO:1200447 Crohn ileocolitis skos:exactMatch MONDO:0005534 ileocolitis semapv:ManualManualMappingCuration -NANDO:1200449 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualManualMappingCuration -NANDO:1200450 Pan-ulcerative colitis skos:exactMatch MONDO:0005536 pancolitis semapv:ManualManualMappingCuration -NANDO:1200451 Left-sided colitis skos:exactMatch MONDO:0005533 distal colitis semapv:ManualManualMappingCuration -NANDO:1200454 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualManualMappingCuration -NANDO:1200456 Eosinophilic esophagitis skos:exactMatch MONDO:0005361 eosinophilic esophagitis semapv:ManualManualMappingCuration -NANDO:1200457 Eosinophilic gastroenteritis skos:exactMatch MONDO:0016129 eosinophilic gastroenteritis semapv:ManualManualMappingCuration -NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualManualMappingCuration -NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualManualMappingCuration -NANDO:1200460 Congenital isolated hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualManualMappingCuration -NANDO:1200461 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualManualMappingCuration -NANDO:1200462 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualManualMappingCuration -NANDO:1200463 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualManualMappingCuration -NANDO:1200464 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualManualMappingCuration -NANDO:1200465 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualManualMappingCuration -NANDO:1200466 Familial cold autoinflammatorysyndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualManualMappingCuration -NANDO:1200467 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualManualMappingCuration -NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualManualMappingCuration -NANDO:1200469 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualManualMappingCuration -NANDO:1200470 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualManualMappingCuration -NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualManualMappingCuration -NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualManualMappingCuration -NANDO:1200473 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualManualMappingCuration -NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualManualMappingCuration -NANDO:1200476 Blau syndrome skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualManualMappingCuration -NANDO:1200477 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualManualMappingCuration -NANDO:1200478 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualManualMappingCuration -NANDO:1200479 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualManualMappingCuration -NANDO:1200481 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualManualMappingCuration -NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualManualMappingCuration -NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualManualMappingCuration -NANDO:1200483 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualManualMappingCuration -NANDO:1200485 Marinesco-Sjogren syndrome skos:exactMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:ManualManualMappingCuration -NANDO:1200486 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualManualMappingCuration -NANDO:1200487 Dystrophinopathies skos:exactMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:ManualManualMappingCuration -NANDO:1200488 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualManualMappingCuration -NANDO:1200489 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualManualMappingCuration -NANDO:1200490 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualManualMappingCuration -NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualManualMappingCuration -NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualManualMappingCuration -NANDO:1200493 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:ManualManualMappingCuration -NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualManualMappingCuration -NANDO:1200495 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualManualMappingCuration -NANDO:1200496 Non-dystrophic myotonia skos:exactMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:ManualManualMappingCuration -NANDO:1200497 Myotonia congenita skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualManualMappingCuration -NANDO:1200498 Thomsen disease skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualManualMappingCuration -NANDO:1200499 Becker disease skos:exactMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:ManualManualMappingCuration -NANDO:1200500 Sodium channel myotonia skos:exactMatch MONDO:0018959 potassium-aggravated myotonia semapv:ManualManualMappingCuration -NANDO:1200501 Paramyotonia congenita skos:exactMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:ManualManualMappingCuration -NANDO:1200502 Hereditary periodic paralysis skos:exactMatch MONDO:0000995 familial periodic paralysis semapv:ManualManualMappingCuration -NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:exactMatch MONDO:0008223 hypokalemic periodic paralysis semapv:ManualManualMappingCuration -NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:exactMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:ManualManualMappingCuration -NANDO:1200506 Syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualManualMappingCuration -NANDO:1200507 Symptomatic syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualManualMappingCuration -NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualManualMappingCuration -NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualManualMappingCuration -NANDO:1200510 Isaacs syndrome skos:exactMatch MONDO:0019399 Isaac syndrome semapv:ManualManualMappingCuration -NANDO:1200511 Hereditary dystonia skos:exactMatch MONDO:0044807 inherited dystonia semapv:ManualManualMappingCuration -NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualManualMappingCuration -NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0044808 obsolete early onset primary dystonia semapv:ManualManualMappingCuration -NANDO:1200513 Dystonia 2 skos:exactMatch MONDO:0009141 torsion dystonia 2 semapv:ManualManualMappingCuration -NANDO:1200514 Dystonia 3 skos:exactMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:ManualManualMappingCuration -NANDO:1200515 Dystonia 4 skos:exactMatch MONDO:0007493 torsion dystonia 4 semapv:ManualManualMappingCuration -NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0007495 dystonia 5 semapv:ManualManualMappingCuration -NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualManualMappingCuration -NANDO:1200517 Dystonia 6 skos:exactMatch MONDO:0011264 torsion dystonia 6 semapv:ManualManualMappingCuration -NANDO:1200518 Dystonia 7 skos:exactMatch MONDO:0011200 torsion dystonia 7 semapv:ManualManualMappingCuration -NANDO:1200519 Dystonia 8 skos:exactMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualManualMappingCuration -NANDO:1200520 Dystonia 9 skos:exactMatch MONDO:0010983 dystonia 9 semapv:ManualManualMappingCuration -NANDO:1200521 Dystonia 10 skos:exactMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:ManualManualMappingCuration -NANDO:1200522 Dystonia 11 skos:exactMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:ManualManualMappingCuration -NANDO:1200523 Dystonia 12 skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualManualMappingCuration -NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualManualMappingCuration -NANDO:1200525 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration -NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:exactMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:ManualManualMappingCuration -NANDO:1200527 Dystonia 13 skos:exactMatch MONDO:0011886 torsion dystonia 13 semapv:ManualManualMappingCuration -NANDO:1200528 Dystonia 15 skos:exactMatch MONDO:0011844 myoclonic dystonia 15 semapv:ManualManualMappingCuration -NANDO:1200529 Dystonia 16 skos:exactMatch MONDO:0012789 dystonia 16 semapv:ManualManualMappingCuration -NANDO:1200530 Dystonia 17 skos:exactMatch MONDO:0012895 torsion dystonia 17 semapv:ManualManualMappingCuration -NANDO:1200531 Dystonia 18 skos:exactMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:ManualManualMappingCuration -NANDO:1200532 Dystonia 19 skos:exactMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:ManualManualMappingCuration -NANDO:1200533 Dystonia 20 skos:exactMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualManualMappingCuration -NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualManualMappingCuration -NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:ManualManualMappingCuration -NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:ManualManualMappingCuration -NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:exactMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:ManualManualMappingCuration -NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:exactMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:ManualManualMappingCuration -NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualManualMappingCuration -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualManualMappingCuration -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:ManualManualMappingCuration -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:ManualManualMappingCuration -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:ManualManualMappingCuration -NANDO:1200542 Neuroferritinopathy skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualManualMappingCuration -NANDO:1200543 Superficial siderosis skos:exactMatch MONDO:0016594 superficial siderosis semapv:ManualManualMappingCuration -NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0010829 CARASIL syndrome semapv:ManualManualMappingCuration -NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:exactMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:ManualManualMappingCuration -NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:exactMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:ManualManualMappingCuration -NANDO:1200547 Perry syndrome skos:exactMatch MONDO:0008201 Perry syndrome semapv:ManualManualMappingCuration -NANDO:1200548 Frontotemporal lobar degeneration skos:exactMatch MONDO:0017276 frontotemporal dementia semapv:ManualManualMappingCuration -NANDO:1200549 Behavioral variant frontotemporal dementia skos:exactMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:ManualManualMappingCuration -NANDO:1200550 Semantic dementia skos:exactMatch MONDO:0010857 semantic dementia semapv:ManualManualMappingCuration -NANDO:1200551 Bickerstaff's brainstem encephalitis skos:exactMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:ManualManualMappingCuration -NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualManualMappingCuration -NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualManualMappingCuration -NANDO:1200554 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualManualMappingCuration -NANDO:1200555 Alexander disease type I skos:exactMatch MONDO:0018209 Alexander disease type I semapv:ManualManualMappingCuration -NANDO:1200556 Alexander disease type II skos:exactMatch MONDO:0018210 Alexander disease type II semapv:ManualManualMappingCuration -NANDO:1200558 Congenital suprabulbar paresis skos:exactMatch MONDO:0008503 Worster-Drought syndrome semapv:ManualManualMappingCuration -NANDO:1200559 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualManualMappingCuration -NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualManualMappingCuration -NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualManualMappingCuration -NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:ManualManualMappingCuration -NANDO:1200562 Aicardi syndrome skos:exactMatch MONDO:0010568 Aicardi syndrome semapv:ManualManualMappingCuration -NANDO:1200563 Hemimegalencephaly skos:exactMatch MONDO:0020492 hemimegalencephaly semapv:ManualManualMappingCuration -NANDO:1200564 Focal cortical dysplasia skos:exactMatch MONDO:0019009 isolated focal cortical dysplasia semapv:ManualManualMappingCuration -NANDO:1200565 Focal cortical dysplasia type 1a skos:exactMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:ManualManualMappingCuration -NANDO:1200566 Focal cortical dysplasia type 1b skos:exactMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:ManualManualMappingCuration -NANDO:1200567 Focal cortical dysplasia type 1c skos:exactMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:ManualManualMappingCuration -NANDO:1200574 Neuronal migration defects skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualManualMappingCuration -NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualManualMappingCuration -NANDO:1200576 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualManualMappingCuration -NANDO:1200577 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualManualMappingCuration -NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualManualMappingCuration -NANDO:1200579 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualManualMappingCuration -NANDO:1200580 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualManualMappingCuration -NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualManualMappingCuration -NANDO:1200582 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualManualMappingCuration -NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualManualMappingCuration -NANDO:1200584 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualManualMappingCuration -NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualManualMappingCuration -NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualManualMappingCuration -NANDO:1200587 Dravet syndrome skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualManualMappingCuration -NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:exactMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:ManualManualMappingCuration -NANDO:1200589 Myoclonic absence epilepsy skos:exactMatch MONDO:0019487 epilepsy with myoclonic absences semapv:ManualManualMappingCuration -NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:exactMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:ManualManualMappingCuration -NANDO:1200591 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualManualMappingCuration -NANDO:1200592 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualManualMappingCuration -NANDO:1200593 Ohtahara syndrome skos:exactMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:ManualManualMappingCuration -NANDO:1200594 Early myoclonic encephalopathy skos:exactMatch MONDO:0016022 early myoclonic encephalopathy semapv:ManualManualMappingCuration -NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:ManualManualMappingCuration -NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:ManualManualMappingCuration -NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:exactMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:ManualManualMappingCuration -NANDO:1200597 Ring chromosome 20 syndrome skos:exactMatch MONDO:0015436 ring chromosome 20 semapv:ManualManualMappingCuration -NANDO:1200598 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualManualMappingCuration -NANDO:1200599 PCDH19-related syndrome skos:exactMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:ManualManualMappingCuration -NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualManualMappingCuration -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0019123 continuous spikes and waves during sleep semapv:ManualManualMappingCuration -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:ManualManualMappingCuration -NANDO:1200602 Landau-Kleffner syndrome skos:exactMatch MONDO:0009509 Landau-Kleffner syndrome semapv:ManualManualMappingCuration -NANDO:1200603 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualManualMappingCuration -NANDO:1200604 Typical Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualManualMappingCuration -NANDO:1200605 Atypical Rett syndrome skos:exactMatch MONDO:0017746 atypical Rett syndrome semapv:ManualManualMappingCuration -NANDO:1200606 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualManualMappingCuration -NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualManualMappingCuration -NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualManualMappingCuration -NANDO:1200608 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualManualMappingCuration -NANDO:1200609 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualManualMappingCuration -NANDO:1200610 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualManualMappingCuration -NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualManualMappingCuration -NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualManualMappingCuration -NANDO:1200613 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualManualMappingCuration -NANDO:1200614 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualManualMappingCuration -NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualManualMappingCuration -NANDO:1200616 Congenital ichthyosiform erythroderma skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualManualMappingCuration -NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0017778 lamellar ichthyosis semapv:ManualManualMappingCuration -NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualManualMappingCuration -NANDO:1200618 Ichthyosis syndrome skos:exactMatch MONDO:0019269 ichthyosis semapv:ManualManualMappingCuration -NANDO:1200619 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualManualMappingCuration -NANDO:1200620 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualManualMappingCuration -NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualManualMappingCuration -NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualManualMappingCuration -NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualManualMappingCuration -NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualManualMappingCuration -NANDO:1200624 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualManualMappingCuration -NANDO:1200625 Recessive X-linked ichtyosis skos:exactMatch MONDO:0010622 recessive X-linked ichthyosis semapv:ManualManualMappingCuration -NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:exactMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:ManualManualMappingCuration -NANDO:1200627 Trichothiodystrophy skos:exactMatch MONDO:0018053 trichothiodystrophy semapv:ManualManualMappingCuration -NANDO:1200628 Ichthyosis follicularis skos:exactMatch MONDO:0043094 ichthyosis, follicular semapv:ManualManualMappingCuration -NANDO:1200629 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualManualMappingCuration -NANDO:1200630 Conradi Hünermann Happle syndrome skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualManualMappingCuration -NANDO:1200631 Benign familial pemphigus skos:exactMatch MONDO:0008218 Hailey-Hailey disease semapv:ManualManualMappingCuration -NANDO:1200633 Bullous pemphigoid skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualManualMappingCuration -NANDO:1200634 Mucous membrane pemphigoid skos:exactMatch MONDO:0018746 mucous membrane pemphigoid semapv:ManualManualMappingCuration -NANDO:1200635 Epidermolysis bullosa acquisita skos:exactMatch MONDO:0018747 acquired epidermolysis bullosa semapv:ManualManualMappingCuration -NANDO:1200637 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualManualMappingCuration -NANDO:1200638 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:ManualManualMappingCuration -NANDO:1200639 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualManualMappingCuration -NANDO:1200640 Griscelli syndrome skos:exactMatch MONDO:0018306 Griscelli syndrome semapv:ManualManualMappingCuration -NANDO:1200641 Non-syndromic oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualManualMappingCuration -NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualManualMappingCuration -NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualManualMappingCuration -NANDO:1200643 Pseudoxanthoma elasticum skos:exactMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:ManualManualMappingCuration -NANDO:1200644 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualManualMappingCuration -NANDO:1200645 Ehlers-Danlos Syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualManualMappingCuration -NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualManualMappingCuration -NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualManualMappingCuration -NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualManualMappingCuration -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualManualMappingCuration -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualManualMappingCuration -NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualManualMappingCuration -NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualManualMappingCuration -NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualManualMappingCuration -NANDO:1200653 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualManualMappingCuration -NANDO:1200654 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualManualMappingCuration -NANDO:1200655 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualManualMappingCuration -NANDO:1200656 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualManualMappingCuration -NANDO:1200657 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualManualMappingCuration -NANDO:1200658 Nasu-Hakola disease skos:exactMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:ManualManualMappingCuration -NANDO:1200659 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualManualMappingCuration -NANDO:1200660 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualManualMappingCuration -NANDO:1200661 Joubert syndrome and related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualManualMappingCuration -NANDO:1200662 Arima syndrome skos:exactMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:ManualManualMappingCuration -NANDO:1200663 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualManualMappingCuration -NANDO:1200664 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualManualMappingCuration -NANDO:1200665 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualManualMappingCuration -NANDO:1200666 Crouzon's syndrome skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualManualMappingCuration -NANDO:1200667 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualManualMappingCuration -NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualManualMappingCuration -NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualManualMappingCuration -NANDO:1200669 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualManualMappingCuration -NANDO:1200670 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualManualMappingCuration -NANDO:1200671 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:ManualManualMappingCuration -NANDO:1200672 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualManualMappingCuration -NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0007029 branchio-oto-renal syndrome semapv:ManualManualMappingCuration -NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0018878 branchiootic syndrome semapv:ManualManualMappingCuration -NANDO:1200676 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualManualMappingCuration -NANDO:1200677 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualManualMappingCuration -NANDO:1200678 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualManualMappingCuration -NANDO:1200679 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualManualMappingCuration -NANDO:1200680 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualManualMappingCuration -NANDO:1200681 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualManualMappingCuration -NANDO:1200682 1p36 deletion syndrome skos:exactMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:ManualManualMappingCuration -NANDO:1200683 4p deletion syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualManualMappingCuration -NANDO:1200684 5p deletion syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualManualMappingCuration -NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:exactMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:ManualManualMappingCuration -NANDO:1200686 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualManualMappingCuration -NANDO:1200687 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualManualMappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualManualMappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualManualMappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualManualMappingCuration -NANDO:1200689 Emanuel syndrome skos:exactMatch MONDO:0012176 Emanuel syndrome semapv:ManualManualMappingCuration -NANDO:1200690 Fragile X syndrome related diseases skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualManualMappingCuration -NANDO:1200691 Fragile X tremor/ataxia syndrome skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualManualMappingCuration -NANDO:1200692 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualManualMappingCuration -NANDO:1200698 Corrected transposition of great arteries skos:exactMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:ManualManualMappingCuration -NANDO:1200699 Complete transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration -NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration -NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration -NANDO:1200704 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualManualMappingCuration -NANDO:1200705 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualManualMappingCuration -NANDO:1200706 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualManualMappingCuration -NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualManualMappingCuration -NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualManualMappingCuration -NANDO:1200709 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualManualMappingCuration -NANDO:1200710 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualManualMappingCuration -NANDO:1200711 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualManualMappingCuration -NANDO:1200712 Alport's syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualManualMappingCuration -NANDO:1200713 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualManualMappingCuration -NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualManualMappingCuration -NANDO:1200718 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualManualMappingCuration -NANDO:1200719 Primary nephrotic syndrome skos:exactMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:ManualManualMappingCuration -NANDO:1200720 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualManualMappingCuration -NANDO:1200721 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200722 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualManualMappingCuration -NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration -NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:exactMatch MONDO:0019736 dense deposit disease semapv:ManualManualMappingCuration -NANDO:1200741 Henoch-Schonlein purpura nephritis skos:exactMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:ManualManualMappingCuration -NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualManualMappingCuration -NANDO:1200743 Interstitial cystitis (Hunner type) skos:exactMatch MONDO:0018301 interstitial cystitis semapv:ManualManualMappingCuration -NANDO:1200744 Osler disease skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualManualMappingCuration -NANDO:1200745 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualManualMappingCuration -NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:ManualManualMappingCuration -NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualManualMappingCuration -NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualManualMappingCuration -NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualManualMappingCuration -NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:exactMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:ManualManualMappingCuration -NANDO:1200750 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualManualMappingCuration -NANDO:1200752 Obesity hypoventilation syndrome skos:exactMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:ManualManualMappingCuration -NANDO:1200753 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualManualMappingCuration -NANDO:1200755 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualManualMappingCuration -NANDO:1200756 Carney complex skos:exactMatch MONDO:0015285 Carney complex semapv:ManualManualMappingCuration -NANDO:1200757 Wolfram syndrome skos:exactMatch MONDO:0018105 Wolfram syndrome semapv:ManualManualMappingCuration -NANDO:1200758 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualManualMappingCuration -NANDO:1200759 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualManualMappingCuration -NANDO:1200760 Zellweger syndrome skos:exactMatch MONDO:0019609 Zellweger spectrum disorders semapv:ManualManualMappingCuration -NANDO:1200761 Neonatal adrenoleukodystrophy skos:exactMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:ManualManualMappingCuration -NANDO:1200762 Infantile Refsum disease skos:exactMatch MONDO:0019174 obsolete infantile Refsum disease semapv:ManualManualMappingCuration -NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:ManualManualMappingCuration -NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:exactMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:ManualManualMappingCuration -NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:ManualManualMappingCuration -NANDO:1200766 D-bifunctional protein deficiency skos:exactMatch MONDO:0009855 d-bifunctional protein deficiency semapv:ManualManualMappingCuration -NANDO:1200767 Sterol carrier protein 2 deficiency skos:exactMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:ManualManualMappingCuration -NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:exactMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:ManualManualMappingCuration -NANDO:1200769 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualManualMappingCuration -NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:exactMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:ManualManualMappingCuration -NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:ManualManualMappingCuration -NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:ManualManualMappingCuration -NANDO:1200773 Primary hyperoxaluria type 1 skos:exactMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:ManualManualMappingCuration -NANDO:1200774 Acatalasemia skos:exactMatch MONDO:0013571 acatalasia semapv:ManualManualMappingCuration -NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualManualMappingCuration -NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualManualMappingCuration -NANDO:1200776 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualManualMappingCuration -NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualManualMappingCuration -NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:ManualManualMappingCuration -NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:ManualManualMappingCuration -NANDO:1200780 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualManualMappingCuration -NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualManualMappingCuration -NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:exactMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:ManualManualMappingCuration -NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:exactMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:ManualManualMappingCuration -NANDO:1200784 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualManualMappingCuration -NANDO:1200785 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualManualMappingCuration -NANDO:1200786 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualManualMappingCuration -NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualManualMappingCuration -NANDO:1200788 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualManualMappingCuration -NANDO:1200789 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualManualMappingCuration -NANDO:1200790 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualManualMappingCuration -NANDO:1200791 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualManualMappingCuration -NANDO:1200792 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualManualMappingCuration -NANDO:1200793 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualManualMappingCuration -NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:exactMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualManualMappingCuration -NANDO:1200795 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualManualMappingCuration -NANDO:1200796 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualManualMappingCuration -NANDO:1200797 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualManualMappingCuration -NANDO:1200798 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualManualMappingCuration -NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:ManualManualMappingCuration -NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualManualMappingCuration -NANDO:1200800 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:1200801 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:1200802 Urea cycle disorder skos:exactMatch MONDO:0004739 urea cycle disorder semapv:ManualManualMappingCuration -NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualManualMappingCuration -NANDO:1200804 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualManualMappingCuration -NANDO:1200805 Classic citrullinemia skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualManualMappingCuration -NANDO:1200806 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualManualMappingCuration -NANDO:1200807 Argininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualManualMappingCuration -NANDO:1200808 NAGS deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualManualMappingCuration -NANDO:1200809 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualManualMappingCuration -NANDO:1200810 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualManualMappingCuration -NANDO:1200811 Porphyria skos:exactMatch MONDO:0037939 porphyria semapv:ManualManualMappingCuration -NANDO:1200812 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualManualMappingCuration -NANDO:1200813 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualManualMappingCuration -NANDO:1200814 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualManualMappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualManualMappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualManualMappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:ManualManualMappingCuration -NANDO:1200816 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualManualMappingCuration -NANDO:1200818 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualManualMappingCuration -NANDO:1200819 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualManualMappingCuration -NANDO:1200820 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualManualMappingCuration -NANDO:1200821 Holocarboxylase synthetase deficiency skos:exactMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:ManualManualMappingCuration -NANDO:1200822 Biotinidase deficiency skos:exactMatch MONDO:0009665 biotinidase deficiency semapv:ManualManualMappingCuration -NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualManualMappingCuration -NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0016118 obsolete muscular glycogenosis semapv:ManualManualMappingCuration -NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualManualMappingCuration -NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:ManualManualMappingCuration -NANDO:1200825 Glycogen storage diseases type II skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualManualMappingCuration -NANDO:1200826 Glycogen storage diseases type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualManualMappingCuration -NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0008222 Andersen-Tawil syndrome semapv:ManualManualMappingCuration -NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualManualMappingCuration -NANDO:1200828 Glycogen storage diseases type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualManualMappingCuration -NANDO:1200829 Glycogen storage diseases type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualManualMappingCuration -NANDO:1200830 Glycogen storage diseases type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualManualMappingCuration -NANDO:1200832 Glycogen storage diseases type X skos:exactMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:ManualManualMappingCuration -NANDO:1200833 Glycogen storage diseases type XI skos:exactMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:ManualManualMappingCuration -NANDO:1200834 Glycogen storage diseases type XII skos:exactMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:ManualManualMappingCuration -NANDO:1200835 Glycogen storage diseases type XIII skos:exactMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:ManualManualMappingCuration -NANDO:1200836 Glycogen storage diseases type XIV skos:exactMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:ManualManualMappingCuration -NANDO:1200837 Glycogen storage diseases type XV skos:exactMatch MONDO:0013291 glycogen storage disease XV semapv:ManualManualMappingCuration -NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0002412 disorder of glycogen metabolism semapv:ManualManualMappingCuration -NANDO:1200840 Hepatic glycogen storage disease type Ia skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualManualMappingCuration -NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualManualMappingCuration -NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:ManualManualMappingCuration -NANDO:1200844 Hepatic GSD type IIIc skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualManualMappingCuration -NANDO:1200846 Hepatic glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualManualMappingCuration -NANDO:1200847 Hepatic glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualManualMappingCuration -NANDO:1200848 Hepatic glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualManualMappingCuration -NANDO:1200849 Hepatic glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualManualMappingCuration -NANDO:1200850 Hepatic glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualManualMappingCuration -NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualManualMappingCuration -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0009515 Norum disease semapv:ManualManualMappingCuration -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0018999 LCAT deficiency semapv:ManualManualMappingCuration -NANDO:1200853 Sitosterolemia skos:exactMatch MONDO:0008863 sitosterolemia semapv:ManualManualMappingCuration -NANDO:1200854 Tangier disease skos:exactMatch MONDO:0008783 Tangier disease semapv:ManualManualMappingCuration -NANDO:1200856 Cerebrotendinous xanthomatosis skos:exactMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:ManualManualMappingCuration -NANDO:1200857 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualManualMappingCuration -NANDO:1200858 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualManualMappingCuration -NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0006536 congenital generalized lipodystrophy semapv:ManualManualMappingCuration -NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualManualMappingCuration -NANDO:1200860 Acquired generalized lipodystrophy skos:exactMatch MONDO:0019193 acquired generalized lipodystrophy semapv:ManualManualMappingCuration -NANDO:1200861 Familial partial lipodystrophy skos:exactMatch MONDO:0020088 familial partial lipodystrophy semapv:ManualManualMappingCuration -NANDO:1200862 Acquired partial lipodystrophy skos:exactMatch MONDO:0012104 acquired partial lipodystrophy semapv:ManualManualMappingCuration -NANDO:1200863 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualManualMappingCuration -NANDO:1200864 Typical familial Mediterranean fever skos:exactMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:ManualManualMappingCuration -NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualManualMappingCuration -NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0012481 mevalonic aciduria semapv:ManualManualMappingCuration -NANDO:1200867 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualManualMappingCuration -NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualManualMappingCuration -NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualManualMappingCuration -NANDO:1200870 Ankylosing spondylitis skos:exactMatch MONDO:0005306 ankylosing spondylitis semapv:ManualManualMappingCuration -NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualManualMappingCuration -NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualManualMappingCuration -NANDO:1200873 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualManualMappingCuration -NANDO:1200874 Thanatophoric dysplasia skos:exactMatch MONDO:0017042 thanatophoric dysplasia semapv:ManualManualMappingCuration -NANDO:1200875 Thanatophoric dysplasia type 1 skos:exactMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:ManualManualMappingCuration -NANDO:1200876 Thanatophoric dysplasia type 2 skos:exactMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:ManualManualMappingCuration -NANDO:1200877 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualManualMappingCuration -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualManualMappingCuration -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualManualMappingCuration -NANDO:1200879 obsolete Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualManualMappingCuration -NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualManualMappingCuration -NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualManualMappingCuration -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:ManualManualMappingCuration -NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualManualMappingCuration -NANDO:1200885 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualManualMappingCuration -NANDO:1200886 Congenital dyserythropoietic anemia type I skos:exactMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:ManualManualMappingCuration -NANDO:1200887 Congenital dyserythropoietic anemia type II skos:exactMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:ManualManualMappingCuration -NANDO:1200888 Congenital dyserythropoietic anemia type III skos:exactMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:ManualManualMappingCuration -NANDO:1200890 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualManualMappingCuration -NANDO:1200891 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualManualMappingCuration -NANDO:1200893 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualManualMappingCuration -NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:exactMatch MONDO:0020599 acquired coagulation factor deficiency semapv:ManualManualMappingCuration -NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:exactMatch MONDO:0021133 acquired factor XIII deficiency semapv:ManualManualMappingCuration -NANDO:1200898 Acquired hemophilia A skos:exactMatch MONDO:0019139 acquired hemophilia semapv:ManualManualMappingCuration -NANDO:1200899 Acquired von Willebrand disease skos:exactMatch MONDO:0020460 acquired von willebrand syndrome semapv:ManualManualMappingCuration -NANDO:1200901 Cronkhite-Canada syndrome skos:exactMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:ManualManualMappingCuration -NANDO:1200903 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualManualMappingCuration -NANDO:1200909 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualManualMappingCuration -NANDO:1200910 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualManualMappingCuration -NANDO:1200911 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualManualMappingCuration -NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualManualMappingCuration -NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualManualMappingCuration -NANDO:1200918 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualManualMappingCuration -NANDO:1200919 Typical Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualManualMappingCuration -NANDO:1200921 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualManualMappingCuration -NANDO:1200922 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualManualMappingCuration -NANDO:1200923 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualManualMappingCuration -NANDO:1200924 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualManualMappingCuration -NANDO:1200925 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualManualMappingCuration -NANDO:1200928 IgG4-related sclerosing cholangitis skos:exactMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:ManualManualMappingCuration -NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:ManualManualMappingCuration -NANDO:1200930 IgG4-related kidney disease skos:exactMatch MONDO:0018671 IgG4-related kidney disease semapv:ManualManualMappingCuration -NANDO:1200931 Macular dystrophy skos:exactMatch MONDO:0020242 hereditary macular dystrophy semapv:ManualManualMappingCuration -NANDO:1200932 Vitelliform macular dystrophy skos:exactMatch MONDO:0000390 vitelliform macular dystrophy semapv:ManualManualMappingCuration -NANDO:1200933 Stargardt disease skos:exactMatch MONDO:0019353 Stargardt disease semapv:ManualManualMappingCuration -NANDO:1200934 Occult macular dystrophy skos:exactMatch MONDO:0013316 occult macular dystrophy semapv:ManualManualMappingCuration -NANDO:1200936 Cone dystrophy skos:exactMatch MONDO:0000455 cone dystrophy semapv:ManualManualMappingCuration -NANDO:1200937 Cone-rod dystrophy skos:exactMatch MONDO:0015993 cone-rod dystrophy semapv:ManualManualMappingCuration -NANDO:1200938 X-linked juvenile retinoschisis skos:exactMatch MONDO:0010725 X-linked retinoschisis semapv:ManualManualMappingCuration -NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0004890 partial central choroid dystrophy semapv:ManualManualMappingCuration -NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0008982 central areolar choroidal dystrophy semapv:ManualManualMappingCuration -NANDO:1200940 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualManualMappingCuration -NANDO:1200941 Usher syndrome skos:exactMatch MONDO:0019501 Usher syndrome semapv:ManualManualMappingCuration -NANDO:1200942 Usher syndrome type I skos:exactMatch MONDO:0010168 Usher syndrome type 1 semapv:ManualManualMappingCuration -NANDO:1200943 Usher syndrome Type II skos:exactMatch MONDO:0016484 Usher syndrome type 2 semapv:ManualManualMappingCuration -NANDO:1200944 Usher syndrome Type III skos:exactMatch MONDO:0016485 Usher syndrome type 3 semapv:ManualManualMappingCuration -NANDO:1200948 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualManualMappingCuration -NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualManualMappingCuration -NANDO:1200951 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualManualMappingCuration -NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:ManualManualMappingCuration -NANDO:1200953 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualManualMappingCuration -NANDO:1200954 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualManualMappingCuration -NANDO:1200955 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualManualMappingCuration -NANDO:1200956 Benign adult familial myoclonus epilepsy skos:exactMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:ManualManualMappingCuration -NANDO:1200957 Congenital anomalies syndrome skos:exactMatch MONDO:0000839 obsolete congenital abnormality semapv:ManualManualMappingCuration -NANDO:1200958 Partial trisomy 1q skos:exactMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:ManualManualMappingCuration -NANDO:1200959 9q34 deletion syndrome skos:exactMatch MONDO:0012455 Kleefstra syndrome semapv:ManualManualMappingCuration -NANDO:1200960 Cornelia de lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualManualMappingCuration -NANDO:1200961 Smith-lemli-opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualManualMappingCuration -NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualManualMappingCuration -NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0019813 congenital tricuspid stenosis semapv:ManualManualMappingCuration -NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualManualMappingCuration -NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0020398 congenital mitral stenosis semapv:ManualManualMappingCuration -NANDO:1200964 Congenital pulmonary vein stenosis skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualManualMappingCuration -NANDO:1200967 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualManualMappingCuration -NANDO:1200969 Carnitine cycle disorders skos:exactMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:ManualManualMappingCuration -NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualManualMappingCuration -NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualManualMappingCuration -NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualManualMappingCuration -NANDO:1200973 Systemic primary carnitine deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualManualMappingCuration -NANDO:1200974 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualManualMappingCuration -NANDO:1200978 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualManualMappingCuration -NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:exactMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:ManualManualMappingCuration -NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:ManualManualMappingCuration -NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0016603 citrullinemia type II semapv:ManualManualMappingCuration -NANDO:1200982 Sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:ManualManualMappingCuration -NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:exactMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:ManualManualMappingCuration -NANDO:1200984 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualManualMappingCuration -NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:exactMatch MONDO:0017353 neonatal glycine encephalopathy semapv:ManualManualMappingCuration -NANDO:1200986 Infantile nonketotic hyperglycinemia skos:exactMatch MONDO:0017354 infantile glycine encephalopathy semapv:ManualManualMappingCuration -NANDO:1200987 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualManualMappingCuration -NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualManualMappingCuration -NANDO:1200989 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualManualMappingCuration -NANDO:1200990 3-methylglutaconic aciduria type I skos:exactMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:ManualManualMappingCuration -NANDO:1200991 3-methylglutaconicaciduria type II skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualManualMappingCuration -NANDO:1200992 3-methylglutaconic aciduria type III skos:exactMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:ManualManualMappingCuration -NANDO:1200994 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualManualMappingCuration -NANDO:1200996 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualManualMappingCuration -NANDO:1200997 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualManualMappingCuration -NANDO:1200998 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualManualMappingCuration -NANDO:1201000 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 anterior segment dysgenesis semapv:ManualManualMappingCuration -NANDO:1201001 Aniridia skos:exactMatch MONDO:0019172 aniridia semapv:ManualManualMappingCuration -NANDO:1201003 Congenital tracheal stenosis skos:exactMatch MONDO:0011340 congenital tracheal stenosis semapv:ManualManualMappingCuration -NANDO:1201004 Congenital subglottic stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualManualMappingCuration -NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:exactMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:ManualManualMappingCuration -NANDO:1201007 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualManualMappingCuration -NANDO:1201009 Systemic granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualManualMappingCuration -NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:exactMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:ManualManualMappingCuration -NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:ManualManualMappingCuration -NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0019563 CREST syndrome semapv:ManualManualMappingCuration -NANDO:1201018 Hepatic glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualManualMappingCuration -NANDO:1201019 Hepatic glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualManualMappingCuration -NANDO:1201020 Hepatic glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualManualMappingCuration -NANDO:1201021 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualManualMappingCuration -NANDO:1201029 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualManualMappingCuration -NANDO:2100002 Leukemia skos:exactMatch MONDO:0004355 childhood leukemia semapv:ManualManualMappingCuration -NANDO:2100002 Leukemia skos:exactMatch MONDO:0005059 leukemia semapv:ManualManualMappingCuration -NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualManualMappingCuration -NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualManualMappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003659 pediatric lymphoma semapv:ManualManualMappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003660 adult lymphoma semapv:ManualManualMappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0005062 lymphoma semapv:ManualManualMappingCuration -NANDO:2100005 Histiocytosis skos:exactMatch MONDO:0002637 histiocytosis semapv:ManualManualMappingCuration -NANDO:2100007 Central nervous system tumors skos:exactMatch MONDO:0002714 central nervous system cancer semapv:ManualManualMappingCuration -NANDO:2100008 Chronic kidney disease skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualManualMappingCuration -NANDO:2100009 Nephrotic syndrome skos:exactMatch MONDO:0005377 nephrotic syndrome semapv:ManualManualMappingCuration -NANDO:2100012 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualManualMappingCuration -NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualManualMappingCuration -NANDO:2100015 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualManualMappingCuration -NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualManualMappingCuration -NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualManualMappingCuration -NANDO:2100019 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualManualMappingCuration -NANDO:2100020 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualManualMappingCuration -NANDO:2100021 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualManualMappingCuration -NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualManualMappingCuration -NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0024327 chronic renal failure syndrome semapv:ManualManualMappingCuration -NANDO:2100027 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualManualMappingCuration -NANDO:2100028 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualManualMappingCuration -NANDO:2100031 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualManualMappingCuration -NANDO:2100032 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualManualMappingCuration -NANDO:2100034 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualManualMappingCuration -NANDO:2100035 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualManualMappingCuration -NANDO:2100036 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualManualMappingCuration -NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualManualMappingCuration -NANDO:2100039 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualManualMappingCuration -NANDO:2100040 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualManualMappingCuration -NANDO:2100043 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualManualMappingCuration -NANDO:2100044 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualManualMappingCuration -NANDO:2100046 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualManualMappingCuration -NANDO:2100049 Ventricular tachycardia skos:exactMatch MONDO:0005477 ventricular tachycardia semapv:ManualManualMappingCuration -NANDO:2100050 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualManualMappingCuration -NANDO:2100051 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualManualMappingCuration -NANDO:2100052 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualManualMappingCuration -NANDO:2100053 Long QT syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualManualMappingCuration -NANDO:2100054 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration -NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualManualMappingCuration -NANDO:2100057 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualManualMappingCuration -NANDO:2100058 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualManualMappingCuration -NANDO:2100060 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualManualMappingCuration -NANDO:2100061 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualManualMappingCuration -NANDO:2100064 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualManualMappingCuration -NANDO:2100070 Ischemic heart disease skos:exactMatch MONDO:0024644 myocardial ischemia semapv:ManualManualMappingCuration -NANDO:2100071 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualManualMappingCuration -NANDO:2100073 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualManualMappingCuration -NANDO:2100075 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualManualMappingCuration -NANDO:2100076 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualManualMappingCuration -NANDO:2100077 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualManualMappingCuration -NANDO:2100079 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration -NANDO:2100080 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualManualMappingCuration -NANDO:2100082 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualManualMappingCuration -NANDO:2100083 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualManualMappingCuration -NANDO:2100084 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualManualMappingCuration -NANDO:2100085 Atrial septal defect skos:exactMatch MONDO:0006664 atrial septal defect semapv:ManualManualMappingCuration -NANDO:2100086 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualManualMappingCuration -NANDO:2100087 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualManualMappingCuration -NANDO:2100090 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualManualMappingCuration -NANDO:2100092 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualManualMappingCuration -NANDO:2100093 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualManualMappingCuration -NANDO:2100095 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualManualMappingCuration -NANDO:2100098 Aortic stenosis skos:exactMatch MONDO:0004978 obsolete aortic stenosis semapv:ManualManualMappingCuration -NANDO:2100101 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualManualMappingCuration -NANDO:2100103 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualManualMappingCuration -NANDO:2100105 Valvular heart disease skos:exactMatch MONDO:0002869 heart valve disorder semapv:ManualManualMappingCuration -NANDO:2100109 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualManualMappingCuration -NANDO:2100110 Hypopituitarism skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualManualMappingCuration -NANDO:2100111 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualManualMappingCuration -NANDO:2100112 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualManualMappingCuration -NANDO:2100114 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualManualMappingCuration -NANDO:2100115 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualManualMappingCuration -NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualManualMappingCuration -NANDO:2100117 Diabetes insipidus skos:exactMatch MONDO:0004782 diabetes insipidus semapv:ManualManualMappingCuration -NANDO:2100119 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualManualMappingCuration -NANDO:2100120 Hypothyroidism skos:exactMatch MONDO:0005420 hypothyroidism semapv:ManualManualMappingCuration -NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualManualMappingCuration -NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualManualMappingCuration -NANDO:2100123 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualManualMappingCuration -NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualManualMappingCuration -NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualManualMappingCuration -NANDO:2100125 Autoimmune polyendocrinopathy skos:exactMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:ManualManualMappingCuration -NANDO:2100126 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualManualMappingCuration -NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualManualMappingCuration -NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualManualMappingCuration -NANDO:2100131 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualManualMappingCuration -NANDO:2100132 Hypoaldosteronism skos:exactMatch MONDO:0015900 hypoaldosteronism disease semapv:ManualManualMappingCuration -NANDO:2100133 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualManualMappingCuration -NANDO:2100134 Congenital adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualManualMappingCuration -NANDO:2100135 Precocious puberty skos:exactMatch MONDO:0000088 precocious puberty semapv:ManualManualMappingCuration -NANDO:2100138 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualManualMappingCuration -NANDO:2100139 Hypergonadotropic hypogonadism skos:exactMatch MONDO:0005387 primary ovarian failure semapv:ManualManualMappingCuration -NANDO:2100140 Disorders of sex development skos:exactMatch MONDO:0002145 disorder of sexual differentiation semapv:ManualManualMappingCuration -NANDO:2100142 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualManualMappingCuration -NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualManualMappingCuration -NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualManualMappingCuration -NANDO:2100144 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualManualMappingCuration -NANDO:2100147 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualManualMappingCuration -NANDO:2100148 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 multiple endocrine neoplasia semapv:ManualManualMappingCuration -NANDO:2100149 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualManualMappingCuration -NANDO:2100151 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualManualMappingCuration -NANDO:2100152 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualManualMappingCuration -NANDO:2100154 Relapsing Polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualManualMappingCuration -NANDO:2100156 Autoinflammatory disease skos:exactMatch MONDO:0019751 autoinflammatory syndrome semapv:ManualManualMappingCuration -NANDO:2100157 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualManualMappingCuration -NANDO:2100158 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualManualMappingCuration -NANDO:2100159 Inborn errors of metabolism skos:exactMatch MONDO:0019052 inborn errors of metabolism semapv:ManualManualMappingCuration -NANDO:2100160 Disorder of amino acid metabolism skos:exactMatch MONDO:0037871 amino acid metabolism disease semapv:ManualManualMappingCuration -NANDO:2100161 Disorder of organic acid metabolism skos:exactMatch MONDO:0045022 disorder of organic acid metabolism semapv:ManualManualMappingCuration -NANDO:2100162 Disorder of fatty-acid metabolism skos:exactMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:ManualManualMappingCuration -NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualManualMappingCuration -NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualManualMappingCuration -NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:ManualManualMappingCuration -NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0037792 carbohydrate metabolism disease semapv:ManualManualMappingCuration -NANDO:2100165 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualManualMappingCuration -NANDO:2100166 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualManualMappingCuration -NANDO:2100172 Connective tissue disorder skos:exactMatch MONDO:0003900 connective tissue disorder semapv:ManualManualMappingCuration -NANDO:2100174 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualManualMappingCuration -NANDO:2100175 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualManualMappingCuration -NANDO:2100176 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualManualMappingCuration -NANDO:2100177 Pure red cell aplasia skos:exactMatch MONDO:0001705 pure red-cell aplasia semapv:ManualManualMappingCuration -NANDO:2100178 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualManualMappingCuration -NANDO:2100179 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualManualMappingCuration -NANDO:2100180 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualManualMappingCuration -NANDO:2100181 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualManualMappingCuration -NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualManualMappingCuration -NANDO:2100183 Hereditary hemolytic anemia skos:exactMatch MONDO:0003689 familial hemolytic anemia semapv:ManualManualMappingCuration -NANDO:2100186 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualManualMappingCuration -NANDO:2100187 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualManualMappingCuration -NANDO:2100188 Thrombocytopenic purpura skos:exactMatch MONDO:0043768 thrombocytopenic purpura semapv:ManualManualMappingCuration -NANDO:2100189 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration -NANDO:2100192 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualManualMappingCuration -NANDO:2100193 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualManualMappingCuration -NANDO:2100194 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualManualMappingCuration -NANDO:2100197 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualManualMappingCuration -NANDO:2100198 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualManualMappingCuration -NANDO:2100200 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualManualMappingCuration -NANDO:2100201 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualManualMappingCuration -NANDO:2100202 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualManualMappingCuration -NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0015131 combined immunodeficiency semapv:ManualManualMappingCuration -NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:ManualManualMappingCuration -NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualManualMappingCuration -NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0021094 immunodeficiency disease semapv:ManualManualMappingCuration -NANDO:2100212 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualManualMappingCuration -NANDO:2100213 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualManualMappingCuration -NANDO:2100214 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualManualMappingCuration -NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualManualMappingCuration -NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualManualMappingCuration -NANDO:2100216 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualManualMappingCuration -NANDO:2100217 Brain malformation skos:exactMatch MONDO:0016054 cerebral malformation semapv:ManualManualMappingCuration -NANDO:2100218 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualManualMappingCuration -NANDO:2100219 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualManualMappingCuration -NANDO:2100220 Neurocutaneous syndrome skos:exactMatch MONDO:0042983 neurocutaneous syndrome semapv:ManualManualMappingCuration -NANDO:2100221 Progeroid syndromes skos:exactMatch MONDO:0015333 progeroid syndrome semapv:ManualManualMappingCuration -NANDO:2100223 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualManualMappingCuration -NANDO:2100224 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualManualMappingCuration -NANDO:2100226 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualManualMappingCuration -NANDO:2100227 Craniosynostosis skos:exactMatch MONDO:0015469 craniosynostosis semapv:ManualManualMappingCuration -NANDO:2100228 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualManualMappingCuration -NANDO:2100229 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualManualMappingCuration -NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualManualMappingCuration -NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0019079 proximal spinal muscular atrophy semapv:ManualManualMappingCuration -NANDO:2100233 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualManualMappingCuration -NANDO:2100234 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualManualMappingCuration -NANDO:2100235 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualManualMappingCuration -NANDO:2100237 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualManualMappingCuration -NANDO:2100238 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualManualMappingCuration -NANDO:2100239 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration -NANDO:2100240 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualManualMappingCuration -NANDO:2100241 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:ManualManualMappingCuration -NANDO:2100242 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualManualMappingCuration -NANDO:2100244 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualManualMappingCuration -NANDO:2100245 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration -NANDO:2100246 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualManualMappingCuration -NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualManualMappingCuration -NANDO:2100248 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualManualMappingCuration -NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualManualMappingCuration -NANDO:2100250 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualManualMappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualManualMappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualManualMappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualManualMappingCuration -NANDO:2100252 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualManualMappingCuration -NANDO:2100255 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualManualMappingCuration -NANDO:2100256 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualManualMappingCuration -NANDO:2100257 Polyposis skos:exactMatch MONDO:0000147 polyposis semapv:ManualManualMappingCuration -NANDO:2100258 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualManualMappingCuration -NANDO:2100259 Inflammatory bowel disease skos:exactMatch MONDO:0005265 inflammatory bowel disease semapv:ManualManualMappingCuration -NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualManualMappingCuration -NANDO:2100264 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualManualMappingCuration -NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualManualMappingCuration -NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualManualMappingCuration -NANDO:2100267 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualManualMappingCuration -NANDO:2100268 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualManualMappingCuration -NANDO:2100272 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualManualMappingCuration -NANDO:2100274 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualManualMappingCuration -NANDO:2100279 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualManualMappingCuration -NANDO:2100280 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualManualMappingCuration -NANDO:2100281 Skin disease skos:exactMatch MONDO:0005093 skin disorder semapv:ManualManualMappingCuration -NANDO:2100283 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualManualMappingCuration -NANDO:2100284 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualManualMappingCuration -NANDO:2100285 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualManualMappingCuration -NANDO:2100286 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualManualMappingCuration -NANDO:2100287 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualManualMappingCuration -NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualManualMappingCuration -NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualManualMappingCuration -NANDO:2100290 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualManualMappingCuration -NANDO:2100291 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualManualMappingCuration -NANDO:2100293 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualManualMappingCuration -NANDO:2100294 Vascular disease skos:exactMatch MONDO:0005385 vascular disorder semapv:ManualManualMappingCuration -NANDO:2100295 Vascular malformation skos:exactMatch MONDO:0024291 vascular malformation semapv:ManualManualMappingCuration -NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualManualMappingCuration -NANDO:2100297 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualManualMappingCuration -NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualManualMappingCuration -NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:exactMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:ManualManualMappingCuration -NANDO:2200003 T-cell lymphoblastic leukemia skos:exactMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:ManualManualMappingCuration -NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:exactMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:ManualManualMappingCuration -NANDO:2200005 Acute myeloid leukemia without maturation skos:exactMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:ManualManualMappingCuration -NANDO:2200006 Acute myeloid leukemia with maturation skos:exactMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:ManualManualMappingCuration -NANDO:2200007 Acute promyelocytic leukemia skos:exactMatch MONDO:0012883 acute promyelocytic leukemia semapv:ManualManualMappingCuration -NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualManualMappingCuration -NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualManualMappingCuration -NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualManualMappingCuration -NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualManualMappingCuration -NANDO:2200010 Acute erythremia skos:exactMatch MONDO:0017858 acute erythroid leukemia semapv:ManualManualMappingCuration -NANDO:2200011 Acute megakaryoblastic leukemia skos:exactMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:ManualManualMappingCuration -NANDO:2200012 NK cell leukemia skos:exactMatch MONDO:0019470 aggressive NK-cell leukemia semapv:ManualManualMappingCuration -NANDO:2200013 Chronic myeloid leukemia skos:exactMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualManualMappingCuration -NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualManualMappingCuration -NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:ManualManualMappingCuration -NANDO:2200015 Juvenile myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualManualMappingCuration -NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualManualMappingCuration -NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0020321 acute undifferentiated leukemia semapv:ManualManualMappingCuration -NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualManualMappingCuration -NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0020743 mixed phenotype acute leukemia semapv:ManualManualMappingCuration -NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualManualMappingCuration -NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualManualMappingCuration -NANDO:2200020 Mature B-cell lymphoma skos:exactMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:ManualManualMappingCuration -NANDO:2200021 Anaplastic large cell lymphoma skos:exactMatch MONDO:0020325 anaplastic large cell lymphoma semapv:ManualManualMappingCuration -NANDO:2200022 Precursor B lymphoblastic lymphoma skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualManualMappingCuration -NANDO:2200023 Precursor T lymphoblastic lymphoma skos:exactMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:ManualManualMappingCuration -NANDO:2200024 Hodgkin lymphoma skos:exactMatch MONDO:0004952 Hodgkins lymphoma semapv:ManualManualMappingCuration -NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:exactMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:ManualManualMappingCuration -NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:exactMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:ManualManualMappingCuration -NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:exactMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:ManualManualMappingCuration -NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:exactMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:ManualManualMappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:ManualManualMappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:ManualManualMappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0018310 Langerhans cell histiocytosis semapv:ManualManualMappingCuration -NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:exactMatch MONDO:0015540 hemophagocytic syndrome semapv:ManualManualMappingCuration -NANDO:2200034 Follicular dendritic cell sarcoma skos:exactMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:ManualManualMappingCuration -NANDO:2200035 Interdigitating dendritic cell sarcoma skos:exactMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:ManualManualMappingCuration -NANDO:2200036 Langerhans cell sarcoma skos:exactMatch MONDO:0019480 Langerhans cell sarcoma semapv:ManualManualMappingCuration -NANDO:2200037 Juvenile xanthogranuloma skos:exactMatch MONDO:0015534 juvenile xanthogranuloma semapv:ManualManualMappingCuration -NANDO:2200038 Erdheim-Chester disease skos:exactMatch MONDO:0018153 Erdheim-Chester disease semapv:ManualManualMappingCuration -NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:ManualManualMappingCuration -NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:ManualManualMappingCuration -NANDO:2200040 Neuroblastoma skos:exactMatch MONDO:0005072 neuroblastoma semapv:ManualManualMappingCuration -NANDO:2200041 Ganglioneuroblastoma skos:exactMatch MONDO:0005035 ganglioneuroblastoma semapv:ManualManualMappingCuration -NANDO:2200042 Retinoblastoma skos:exactMatch MONDO:0008380 retinoblastoma semapv:ManualManualMappingCuration -NANDO:2200043 Wilms tumour skos:exactMatch MONDO:0019004 kidney Wilms tumor semapv:ManualManualMappingCuration -NANDO:2200044 Clear cell sarcoma of the kidney skos:exactMatch MONDO:0005006 clear cell sarcoma of kidney semapv:ManualManualMappingCuration -NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005086 renal cell carcinoma semapv:ManualManualMappingCuration -NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005549 renal cell adenocarcinoma semapv:ManualManualMappingCuration -NANDO:2200046 Hepatoblastoma skos:exactMatch MONDO:0018666 hepatoblastoma semapv:ManualManualMappingCuration -NANDO:2200047 Hepatocellular carcinoma skos:exactMatch MONDO:0007256 hepatocellular carcinoma semapv:ManualManualMappingCuration -NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0002623 pediatric osteosarcoma semapv:ManualManualMappingCuration -NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0009807 osteosarcoma semapv:ManualManualMappingCuration -NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualManualMappingCuration -NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualManualMappingCuration -NANDO:2200050 Chondrosarcoma skos:exactMatch MONDO:0008977 chondrosarcoma semapv:ManualManualMappingCuration -NANDO:2200051 Chondroblastoma skos:exactMatch MONDO:0004997 chondroblastoma semapv:ManualManualMappingCuration -NANDO:2200052 Malignancy in giant cell tumour of bone skos:exactMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:ManualManualMappingCuration -NANDO:2200053 Ewing's sarcoma skos:exactMatch MONDO:0012817 Ewing sarcoma semapv:ManualManualMappingCuration -NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualManualMappingCuration -NANDO:2200056 Rhabdomyosarcoma skos:exactMatch MONDO:0005212 rhabdomyosarcoma semapv:ManualManualMappingCuration -NANDO:2200057 Malignant rhabdoid tumour skos:exactMatch MONDO:0002728 rhabdoid tumor semapv:ManualManualMappingCuration -NANDO:2200058 Undifferentiated sarcoma skos:exactMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:ManualManualMappingCuration -NANDO:2200059 Desmoplastic small round cell tumors skos:exactMatch MONDO:0019373 desmoplastic small round cell tumor semapv:ManualManualMappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002676 adult fibrosarcoma semapv:ManualManualMappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002678 pediatric fibrosarcoma semapv:ManualManualMappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0005164 fibrosarcoma semapv:ManualManualMappingCuration -NANDO:2200061 Synovial sarcoma skos:exactMatch MONDO:0010434 synovial sarcoma semapv:ManualManualMappingCuration -NANDO:2200062 Clear cell sarcoma skos:exactMatch MONDO:0002926 clear cell sarcoma semapv:ManualManualMappingCuration -NANDO:2200063 Alveolar soft part sarcoma skos:exactMatch MONDO:0011655 alveolar soft part sarcoma semapv:ManualManualMappingCuration -NANDO:2200064 Leiomyosarcoma skos:exactMatch MONDO:0005058 leiomyosarcoma semapv:ManualManualMappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003585 adult liposarcoma semapv:ManualManualMappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003587 pediatric liposarcoma semapv:ManualManualMappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0005060 liposarcoma semapv:ManualManualMappingCuration -NANDO:2200066 Dysgerminoma skos:exactMatch MONDO:0003002 dysgerminoma semapv:ManualManualMappingCuration -NANDO:2200067 Embryonal carcinoma skos:exactMatch MONDO:0005440 embryonal carcinoma semapv:ManualManualMappingCuration -NANDO:2200068 Polyembryoma skos:exactMatch MONDO:0015863 polyembryoma semapv:ManualManualMappingCuration -NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0005744 yolk sac tumor semapv:ManualManualMappingCuration -NANDO:2200070 Choriocarcinoma skos:exactMatch MONDO:0005207 choriocarcinoma semapv:ManualManualMappingCuration -NANDO:2200071 Mixed germ cell tumour skos:exactMatch MONDO:0015864 mixed germ cell tumor semapv:ManualManualMappingCuration -NANDO:2200072 Sex-cord stromal tumour skos:exactMatch MONDO:0006055 sex cord-stromal tumor semapv:ManualManualMappingCuration -NANDO:2200073 Adrenocortical carcinoma skos:exactMatch MONDO:0006639 adrenal cortex carcinoma semapv:ManualManualMappingCuration -NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0002108 thyroid cancer semapv:ManualManualMappingCuration -NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0015075 thyroid gland carcinoma semapv:ManualManualMappingCuration -NANDO:2200076 Salivary grand carcinoma skos:exactMatch MONDO:0000521 salivary gland carcinoma semapv:ManualManualMappingCuration -NANDO:2200077 Malignant melanoma skos:exactMatch MONDO:0005105 melanoma semapv:ManualManualMappingCuration -NANDO:2200078 Pheochromocytoma skos:exactMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:ManualManualMappingCuration -NANDO:2200079 Malignant thymoma skos:exactMatch MONDO:0006451 thymic carcinoma semapv:ManualManualMappingCuration -NANDO:2200080 Pleuropulmonaryblastoma skos:exactMatch MONDO:0011014 pleuropulmonary blastoma semapv:ManualManualMappingCuration -NANDO:2200081 Bronchial tumour skos:exactMatch MONDO:0002807 bronchial neoplasm semapv:ManualManualMappingCuration -NANDO:2200082 Pancreatoblastoma skos:exactMatch MONDO:0019035 pancreatoblastoma semapv:ManualManualMappingCuration -NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:ManualManualMappingCuration -NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0016691 pilocytic astrocytoma semapv:ManualManualMappingCuration -NANDO:2200085 Diffuse astrocytoma skos:exactMatch MONDO:0016686 diffuse astrocytoma semapv:ManualManualMappingCuration -NANDO:2200086 Anaplastic astrocytoma skos:exactMatch MONDO:0016684 anaplastic astrocytoma semapv:ManualManualMappingCuration -NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0018177 glioblastoma semapv:ManualManualMappingCuration -NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0020690 adult glioblastoma semapv:ManualManualMappingCuration -NANDO:2200088 Ependymoma skos:exactMatch MONDO:0016698 ependymoma semapv:ManualManualMappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002540 childhood oligodendroglioma semapv:ManualManualMappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002543 adult oligodendroglioma semapv:ManualManualMappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0016695 oligodendroglioma semapv:ManualManualMappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002794 adult medulloblastoma semapv:ManualManualMappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002797 childhood medulloblastoma semapv:ManualManualMappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0007959 medulloblastoma semapv:ManualManualMappingCuration -NANDO:2200091 Craniopharyngioma skos:exactMatch MONDO:0018907 craniopharyngioma semapv:ManualManualMappingCuration -NANDO:2200092 Pineocytoma skos:exactMatch MONDO:0016723 pineocytoma semapv:ManualManualMappingCuration -NANDO:2200093 Choroid plexus papilloma skos:exactMatch MONDO:0009837 choroid plexus papilloma semapv:ManualManualMappingCuration -NANDO:2200094 Meningioma skos:exactMatch MONDO:0003057 pediatric meningioma semapv:ManualManualMappingCuration -NANDO:2200094 Meningioma skos:exactMatch MONDO:0016642 meningioma semapv:ManualManualMappingCuration -NANDO:2200095 Pituitary adenoma skos:exactMatch MONDO:0006373 pituitary gland adenoma semapv:ManualManualMappingCuration -NANDO:2200096 Ganglioglioma skos:exactMatch MONDO:0016733 ganglioglioma semapv:ManualManualMappingCuration -NANDO:2200097 Gangliocytoma skos:exactMatch MONDO:0016730 gangliocytoma semapv:ManualManualMappingCuration -NANDO:2200098 Chordoma skos:exactMatch MONDO:0008978 chordoma semapv:ManualManualMappingCuration -NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualManualMappingCuration -NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualManualMappingCuration -NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:exactMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:ManualManualMappingCuration -NANDO:2200102 Malignant neurinoma skos:exactMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:ManualManualMappingCuration -NANDO:2200103 Neurinoma skos:exactMatch MONDO:0002546 schwannoma semapv:ManualManualMappingCuration -NANDO:2200104 Teratoma of the central nervous system skos:exactMatch MONDO:0002718 central nervous system teratoma semapv:ManualManualMappingCuration -NANDO:2200105 Mature teratoma skos:exactMatch MONDO:0003517 mature teratoma semapv:ManualManualMappingCuration -NANDO:2200106 Immature teratoma skos:exactMatch MONDO:0024746 immature teratoma semapv:ManualManualMappingCuration -NANDO:2200107 Teratoma with malignant transformation skos:exactMatch MONDO:0006444 teratoma with malignant transformation semapv:ManualManualMappingCuration -NANDO:2200108 Intracranial germ cell tumour skos:exactMatch MONDO:0004218 childhood germ cell brain tumor semapv:ManualManualMappingCuration -NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:exactMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:ManualManualMappingCuration -NANDO:2200112 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualManualMappingCuration -NANDO:2200113 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualManualMappingCuration -NANDO:2200114 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualManualMappingCuration -NANDO:2200116 Denys-Drash syndrome skos:exactMatch MONDO:0008682 Denys-Drash syndrome semapv:ManualManualMappingCuration -NANDO:2200117 Pierson syndrome skos:exactMatch MONDO:0012184 Pierson syndrome semapv:ManualManualMappingCuration -NANDO:2200118 Central nervous system malformation syndrome skos:exactMatch MONDO:0020022 central nervous system malformation semapv:ManualManualMappingCuration -NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualManualMappingCuration -NANDO:2200120 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualManualMappingCuration -NANDO:2200121 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualManualMappingCuration -NANDO:2200122 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualManualMappingCuration -NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration -NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualManualMappingCuration -NANDO:2200125 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualManualMappingCuration -NANDO:2200126 Alport syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualManualMappingCuration -NANDO:2200127 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualManualMappingCuration -NANDO:2200128 Lupus nephritis skos:exactMatch MONDO:0005556 lupus nephritis semapv:ManualManualMappingCuration -NANDO:2200131 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualManualMappingCuration -NANDO:2200132 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualManualMappingCuration -NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:exactMatch MONDO:0007671 fibronectin glomerulopathy semapv:ManualManualMappingCuration -NANDO:2200134 Lipoprotein glomerulopathy skos:exactMatch MONDO:0012725 lipoprotein glomerulopathy semapv:ManualManualMappingCuration -NANDO:2200136 Tubulointerstitial nephritis skos:exactMatch MONDO:0001085 interstitial nephritis semapv:ManualManualMappingCuration -NANDO:2200137 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualManualMappingCuration -NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0019065 amyloidosis semapv:ManualManualMappingCuration -NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualManualMappingCuration -NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualManualMappingCuration -NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualManualMappingCuration -NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualManualMappingCuration -NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualManualMappingCuration -NANDO:2200144 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualManualMappingCuration -NANDO:2200145 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualManualMappingCuration -NANDO:2200146 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualManualMappingCuration -NANDO:2200152 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualManualMappingCuration -NANDO:2200153 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualManualMappingCuration -NANDO:2200154 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualManualMappingCuration -NANDO:2200155 Hypoplastic kidney skos:exactMatch MONDO:0019637 renal hypoplasia semapv:ManualManualMappingCuration -NANDO:2200156 Renal aplasia skos:exactMatch MONDO:0018470 renal agenesis semapv:ManualManualMappingCuration -NANDO:2200157 Potter syndrome skos:exactMatch MONDO:0001558 Potter sequence semapv:ManualManualMappingCuration -NANDO:2200158 Multicystic dysplastic kidney skos:exactMatch MONDO:0015988 multicystic dysplastic kidney semapv:ManualManualMappingCuration -NANDO:2200159 Oligomeganephronia skos:exactMatch MONDO:0016407 oligomeganephronia semapv:ManualManualMappingCuration -NANDO:2200161 Renal dysplasia skos:exactMatch MONDO:0019638 renal dysplasia semapv:ManualManualMappingCuration -NANDO:2200170 Medullary cystic kidney skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualManualMappingCuration -NANDO:2200171 Multilocular cysts of the kidney skos:exactMatch MONDO:0019983 multiloculated renal cyst semapv:ManualManualMappingCuration -NANDO:2200172 Simple renal cyst skos:exactMatch MONDO:0002473 cystic kidney disease semapv:ManualManualMappingCuration -NANDO:2200173 Medullary sponge kidney skos:exactMatch MONDO:0015268 medullary sponge kidney semapv:ManualManualMappingCuration -NANDO:2200176 Ureteropelvic junction obstruction skos:exactMatch MONDO:0007741 congenital hydronephrosis semapv:ManualManualMappingCuration -NANDO:2200177 Megacalycosis skos:exactMatch MONDO:0019639 congenital megacalycosis semapv:ManualManualMappingCuration -NANDO:2200178 Obstructive uropathy skos:exactMatch MONDO:0003330 urinary tract obstruction semapv:ManualManualMappingCuration -NANDO:2200179 Vesicoureteral reflux skos:exactMatch MONDO:0006007 vesicoureteral reflux semapv:ManualManualMappingCuration -NANDO:2200183 Ureteroceles skos:exactMatch MONDO:0008628 ureterocele semapv:ManualManualMappingCuration -NANDO:2200184 Megaureter skos:exactMatch MONDO:0018960 congenital primary megaureter semapv:ManualManualMappingCuration -NANDO:2200185 Prune belly syndrome skos:exactMatch MONDO:0007032 prune belly syndrome semapv:ManualManualMappingCuration -NANDO:2200187 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualManualMappingCuration -NANDO:2200188 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualManualMappingCuration -NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualManualMappingCuration -NANDO:2200194 Tracheal stenosis skos:exactMatch MONDO:0002568 tracheal stenosis semapv:ManualManualMappingCuration -NANDO:2200195 Tracheomalacia skos:exactMatch MONDO:0019804 tracheomalacia semapv:ManualManualMappingCuration -NANDO:2200198 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualManualMappingCuration -NANDO:2200199 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualManualMappingCuration -NANDO:2200200 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualManualMappingCuration -NANDO:2200202 Pulmonary alveolar microlithiasis skos:exactMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:ManualManualMappingCuration -NANDO:2200203 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualManualMappingCuration -NANDO:2200204 Kartagener syndrome skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualManualMappingCuration -NANDO:2200205 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualManualMappingCuration -NANDO:2200206 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualManualMappingCuration -NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualManualMappingCuration -NANDO:2200209 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualManualMappingCuration -NANDO:2200210 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualManualMappingCuration -NANDO:2200212 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualManualMappingCuration -NANDO:2200213 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualManualMappingCuration -NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0000468 third-degree atrioventricular block semapv:ManualManualMappingCuration -NANDO:2200215 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualManualMappingCuration -NANDO:2200216 Polymorphic ventricular premature beat skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualManualMappingCuration -NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:exactMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:ManualManualMappingCuration -NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005479 atrial tachycardia semapv:ManualManualMappingCuration -NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualManualMappingCuration -NANDO:2200225 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualManualMappingCuration -NANDO:2200226 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualManualMappingCuration -NANDO:2200227 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualManualMappingCuration -NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualManualMappingCuration -NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0019171 familial long QT syndrome semapv:ManualManualMappingCuration -NANDO:2200229 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration -NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualManualMappingCuration -NANDO:2200231 Non-compaction of the ventricle skos:exactMatch MONDO:0018901 left ventricular noncompaction semapv:ManualManualMappingCuration -NANDO:2200232 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualManualMappingCuration -NANDO:2200233 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualManualMappingCuration -NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0006779 heart aneurysm semapv:ManualManualMappingCuration -NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0015677 cardiac diverticulum semapv:ManualManualMappingCuration -NANDO:2200235 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualManualMappingCuration -NANDO:2200236 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualManualMappingCuration -NANDO:2200239 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualManualMappingCuration -NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:exactMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:ManualManualMappingCuration -NANDO:2200246 Stenosis or atresia of coronary artery skos:exactMatch MONDO:0006715 coronary stenosis semapv:ManualManualMappingCuration -NANDO:2200248 Myocardial infarction skos:exactMatch MONDO:0005068 myocardial infarction semapv:ManualManualMappingCuration -NANDO:2200249 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualManualMappingCuration -NANDO:2200250 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualManualMappingCuration -NANDO:2200251 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualManualMappingCuration -NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualManualMappingCuration -NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualManualMappingCuration -NANDO:2200254 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualManualMappingCuration -NANDO:2200256 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualManualMappingCuration -NANDO:2200257 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualManualMappingCuration -NANDO:2200258 Complete transposition of the great arteries skos:exactMatch MONDO:0000153 transposition of the great arteries semapv:ManualManualMappingCuration -NANDO:2200259 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualManualMappingCuration -NANDO:2200260 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualManualMappingCuration -NANDO:2200262 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualManualMappingCuration -NANDO:2200263 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualManualMappingCuration -NANDO:2200264 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualManualMappingCuration -NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:ManualManualMappingCuration -NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020439 patent foramen ovale semapv:ManualManualMappingCuration -NANDO:2200267 Atrial septal defect, sinus venosus type skos:exactMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:ManualManualMappingCuration -NANDO:2200268 Incomplete atrioventricular septal defect skos:exactMatch MONDO:0015275 partial atrioventricular canal semapv:ManualManualMappingCuration -NANDO:2200269 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualManualMappingCuration -NANDO:2200270 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualManualMappingCuration -NANDO:2200271 Total anomalous pulmonary venous connection skos:exactMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:ManualManualMappingCuration -NANDO:2200272 Partial anomalous pulmonary venous connection skos:exactMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:ManualManualMappingCuration -NANDO:2200273 Pulmonary venous obstruction skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualManualMappingCuration -NANDO:2200274 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualManualMappingCuration -NANDO:2200275 Double-chambered right ventricle skos:exactMatch MONDO:0016581 conotruncal heart malformations semapv:ManualManualMappingCuration -NANDO:2200276 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualManualMappingCuration -NANDO:2200277 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualManualMappingCuration -NANDO:2200278 Supravalvular pulmonary stenosis skos:exactMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:ManualManualMappingCuration -NANDO:2200280 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualManualMappingCuration -NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:exactMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:ManualManualMappingCuration -NANDO:2200282 Unilateral absence of a pulmonary artery skos:exactMatch MONDO:0020007 absence of the pulmonary artery semapv:ManualManualMappingCuration -NANDO:2200283 Coarctation of the aorta skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualManualMappingCuration -NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualManualMappingCuration -NANDO:2200285 Supravalvular aortic stenosis skos:exactMatch MONDO:0008504 supravalvular aortic stenosis semapv:ManualManualMappingCuration -NANDO:2200286 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualManualMappingCuration -NANDO:2200288 Interruption of aortic arch complex skos:exactMatch MONDO:0009010 aortic arch interruption semapv:ManualManualMappingCuration -NANDO:2200290 Double aortic arch disease skos:exactMatch MONDO:0020413 encircling double aortic arch semapv:ManualManualMappingCuration -NANDO:2200293 Aneurysm of sinus valsalva skos:exactMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:ManualManualMappingCuration -NANDO:2200294 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualManualMappingCuration -NANDO:2200295 Pulmonary arteriovenous fistulae skos:exactMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:ManualManualMappingCuration -NANDO:2200296 Coronary artery fistula skos:exactMatch MONDO:0016081 coronary arterial fistulas semapv:ManualManualMappingCuration -NANDO:2200298 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualManualMappingCuration -NANDO:2200299 Chronic cor pulmonale skos:exactMatch MONDO:0001493 chronic pulmonary heart disease semapv:ManualManualMappingCuration -NANDO:2200300 Tricuspid valve stenosis skos:exactMatch MONDO:0005997 tricuspid valve stenosis semapv:ManualManualMappingCuration -NANDO:2200301 Tricuspid valve regurgitation skos:exactMatch MONDO:0002870 tricuspid valve insufficiency semapv:ManualManualMappingCuration -NANDO:2200302 Mitral valve stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualManualMappingCuration -NANDO:2200303 Mitral regurgitation skos:exactMatch MONDO:0001298 congenital mitral valve insufficiency semapv:ManualManualMappingCuration -NANDO:2200304 Pulmonary valve stenosis skos:exactMatch MONDO:0006936 pulmonary valve stenosis semapv:ManualManualMappingCuration -NANDO:2200305 Pulmonary valve regurgitation skos:exactMatch MONDO:0001927 pulmonary valve insufficiency semapv:ManualManualMappingCuration -NANDO:2200306 Aortic valve stenosis skos:exactMatch MONDO:0042981 aortic valve stenosis semapv:ManualManualMappingCuration -NANDO:2200307 Aortic valve regurgitation skos:exactMatch MONDO:0005648 aortic valve insufficiency semapv:ManualManualMappingCuration -NANDO:2200308 Supramitral ring skos:exactMatch MONDO:0020400 congenital supravalvular mitral ring semapv:ManualManualMappingCuration -NANDO:2200312 Congenital hypopituitarism skos:exactMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:ManualManualMappingCuration -NANDO:2200313 Acquired hypopituitarism skos:exactMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:ManualManualMappingCuration -NANDO:2200314 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualManualMappingCuration -NANDO:2200315 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualManualMappingCuration -NANDO:2200317 Congenital growth hormone deficiency skos:exactMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:ManualManualMappingCuration -NANDO:2200320 IGF1 insensitivity skos:exactMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:ManualManualMappingCuration -NANDO:2200321 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualManualMappingCuration -NANDO:2200322 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualManualMappingCuration -NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualManualMappingCuration -NANDO:2200324 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualManualMappingCuration -NANDO:2200325 Adipsic hypernatremia skos:exactMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:ManualManualMappingCuration -NANDO:2200326 Nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualManualMappingCuration -NANDO:2200328 Basedow disease skos:exactMatch MONDO:0005364 Graves disease semapv:ManualManualMappingCuration -NANDO:2200329 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualManualMappingCuration -NANDO:2200330 Ectoic thyroid skos:exactMatch MONDO:0019854 thyroid ectopia semapv:ManualManualMappingCuration -NANDO:2200331 Thyroid agenesis skos:exactMatch MONDO:0019855 athyreosis semapv:ManualManualMappingCuration -NANDO:2200332 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualManualMappingCuration -NANDO:2200333 Congenital hypothyroidism skos:exactMatch MONDO:0018612 congenital hypothyroidism semapv:ManualManualMappingCuration -NANDO:2200335 Hashimoto disease skos:exactMatch MONDO:0007699 Hashimoto thyroiditis semapv:ManualManualMappingCuration -NANDO:2200336 Atrophic thyroiditis skos:exactMatch MONDO:0005624 atrophic thyroiditis semapv:ManualManualMappingCuration -NANDO:2200340 Central hypothyroidism skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualManualMappingCuration -NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualManualMappingCuration -NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualManualMappingCuration -NANDO:2200343 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualManualMappingCuration -NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualManualMappingCuration -NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualManualMappingCuration -NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualManualMappingCuration -NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:exactMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:ManualManualMappingCuration -NANDO:2200348 Pseudopseudohypoparathyroidism skos:exactMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:ManualManualMappingCuration -NANDO:2200349 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualManualMappingCuration -NANDO:2200350 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualManualMappingCuration -NANDO:2200351 Ectopic ACTH syndrome skos:exactMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:ManualManualMappingCuration -NANDO:2200352 Adrenal adenoma skos:exactMatch MONDO:0003924 adrenal cortex adenoma semapv:ManualManualMappingCuration -NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualManualMappingCuration -NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration -NANDO:2200358 Glucocorticoid resistance skos:exactMatch MONDO:0014421 glucocorticoid resistance semapv:ManualManualMappingCuration -NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualManualMappingCuration -NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualManualMappingCuration -NANDO:2200360 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualManualMappingCuration -NANDO:2200360 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualManualMappingCuration -NANDO:2200361 Aldosteronism skos:exactMatch MONDO:0001422 primary aldosteronism semapv:ManualManualMappingCuration -NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualManualMappingCuration -NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualManualMappingCuration -NANDO:2200363 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualManualMappingCuration -NANDO:2200365 Aldosterone synthase deficiency skos:exactMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:ManualManualMappingCuration -NANDO:2200367 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualManualMappingCuration -NANDO:2200368 Pseudohypoaldosteronism type I skos:exactMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:ManualManualMappingCuration -NANDO:2200369 Pseudohypoaldosteronism type II skos:exactMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:ManualManualMappingCuration -NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualManualMappingCuration -NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2200372 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualManualMappingCuration -NANDO:2200373 17 alpha-hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualManualMappingCuration -NANDO:2200375 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualManualMappingCuration -NANDO:2200377 Gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualManualMappingCuration -NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0015791 peripheral precocious puberty semapv:ManualManualMappingCuration -NANDO:2200379 Hyperestrogenism skos:exactMatch MONDO:0001946 obsolete hyperestrogenism semapv:ManualManualMappingCuration -NANDO:2200380 Hyperandrogenism skos:exactMatch MONDO:0001324 obsolete hyperandrogenism semapv:ManualManualMappingCuration -NANDO:2200381 Kallmann syndrome skos:exactMatch MONDO:0018800 Kallmann syndrome semapv:ManualManualMappingCuration -NANDO:2200382 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualManualMappingCuration -NANDO:2200383 Testicular dysgenesis skos:exactMatch MONDO:0005437 testicular dysgenesis syndrome semapv:ManualManualMappingCuration -NANDO:2200386 Klinefelter syndrome skos:exactMatch MONDO:0006823 Klinefelter syndrome semapv:ManualManualMappingCuration -NANDO:2200387 Ovotesticular dsd skos:exactMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:ManualManualMappingCuration -NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0001969 mixed gonadal dysgenesis semapv:ManualManualMappingCuration -NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:ManualManualMappingCuration -NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:ManualManualMappingCuration -NANDO:2200391 Androgen insensitivity syndrome skos:exactMatch MONDO:0019154 androgen insensitivity syndrome semapv:ManualManualMappingCuration -NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020040 46,XY disorder of sex development semapv:ManualManualMappingCuration -NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:ManualManualMappingCuration -NANDO:2200394 Vipoma skos:exactMatch MONDO:0019960 VIPoma semapv:ManualManualMappingCuration -NANDO:2200395 Gastrinoma skos:exactMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:ManualManualMappingCuration -NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0005369 carcinoid tumor semapv:ManualManualMappingCuration -NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0006689 obsolete carcinoid syndrome semapv:ManualManualMappingCuration -NANDO:2200397 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualManualMappingCuration -NANDO:2200398 Insulinoma skos:exactMatch MONDO:0024677 pancreatic insulinoma semapv:ManualManualMappingCuration -NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualManualMappingCuration -NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualManualMappingCuration -NANDO:2200401 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualManualMappingCuration -NANDO:2200402 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualManualMappingCuration -NANDO:2200403 Primary hypophosphatemic rickets skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualManualMappingCuration -NANDO:2200404 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualManualMappingCuration -NANDO:2200405 Multiple endocrine neoplasia type 1 skos:exactMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:ManualManualMappingCuration -NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualManualMappingCuration -NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:ManualManualMappingCuration -NANDO:2200408 Von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualManualMappingCuration -NANDO:2200409 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualManualMappingCuration -NANDO:2200410 Turner syndrome skos:exactMatch MONDO:0019499 Turner syndrome semapv:ManualManualMappingCuration -NANDO:2200411 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualManualMappingCuration -NANDO:2200412 McCune-Albright syndrome skos:exactMatch MONDO:0018919 McCune-Albright syndrome semapv:ManualManualMappingCuration -NANDO:2200413 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualManualMappingCuration -NANDO:2200414 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 Bardet-Biedl syndrome semapv:ManualManualMappingCuration -NANDO:2200415 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualManualMappingCuration -NANDO:2200416 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualManualMappingCuration -NANDO:2200418 Juvenile dermatomyositis skos:exactMatch MONDO:0008054 juvenile dermatomyositis semapv:ManualManualMappingCuration -NANDO:2200419 Juvenile polymyositis skos:exactMatch MONDO:0019734 juvenile polymyositis semapv:ManualManualMappingCuration -NANDO:2200420 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualManualMappingCuration -NANDO:2200421 Anti-phospholipid antibody syndrome skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualManualMappingCuration -NANDO:2200422 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualManualMappingCuration -NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualManualMappingCuration -NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualManualMappingCuration -NANDO:2200424 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualManualMappingCuration -NANDO:2200426 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualManualMappingCuration -NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualManualMappingCuration -NANDO:2200428 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualManualMappingCuration -NANDO:2200429 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualManualMappingCuration -NANDO:2200430 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualManualMappingCuration -NANDO:2200431 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualManualMappingCuration -NANDO:2200432 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualManualMappingCuration -NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualManualMappingCuration -NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualManualMappingCuration -NANDO:2200435 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualManualMappingCuration -NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualManualMappingCuration -NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0017708 mevalonate kinase deficiency semapv:ManualManualMappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0004471 bacterial arthritis semapv:ManualManualMappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualManualMappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0018824 pyoderma gangrenosum semapv:ManualManualMappingCuration -NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualManualMappingCuration -NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:exactMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:ManualManualMappingCuration -NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualManualMappingCuration -NANDO:2200443 CARD14 deficiency skos:exactMatch MONDO:0011269 psoriasis 2 semapv:ManualManualMappingCuration -NANDO:2200444 Cherubism skos:exactMatch MONDO:0007315 cherubism semapv:ManualManualMappingCuration -NANDO:2200446 IL10 deficiency skos:exactMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:ManualManualMappingCuration -NANDO:2200447 IL-10RA deficiency skos:exactMatch MONDO:0013153 inflammatory bowel disease 28 semapv:ManualManualMappingCuration -NANDO:2200448 IL-10RB deficiency skos:exactMatch MONDO:0012941 inflammatory bowel disease 25 semapv:ManualManualMappingCuration -NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualManualMappingCuration -NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualManualMappingCuration -NANDO:2200451 PLCg2 deficiency skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualManualMappingCuration -NANDO:2200452 IL36RN deficiency skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualManualMappingCuration -NANDO:2200453 Majeed syndrome skos:exactMatch MONDO:0012316 Majeed syndrome semapv:ManualManualMappingCuration -NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualManualMappingCuration -NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualManualMappingCuration -NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:ManualManualMappingCuration -NANDO:2200456 RBCK1 deficiency skos:exactMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:ManualManualMappingCuration -NANDO:2200457 SLC29A3 deficiency skos:exactMatch MONDO:0011273 H syndrome semapv:ManualManualMappingCuration -NANDO:2200458 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualManualMappingCuration -NANDO:2200460 Diabetes mellitus type 1 skos:exactMatch MONDO:0005147 type 1 diabetes mellitus semapv:ManualManualMappingCuration -NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0005148 type 2 diabetes mellitus semapv:ManualManualMappingCuration -NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualManualMappingCuration -NANDO:2200462 Maturity-onset diabetes of the young skos:exactMatch MONDO:0018911 maturity-onset diabetes of the young semapv:ManualManualMappingCuration -NANDO:2200463 Neonatal diabetes mellitus skos:exactMatch MONDO:0016391 neonatal diabetes mellitus semapv:ManualManualMappingCuration -NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0005827 lipoatrophic diabetes semapv:ManualManualMappingCuration -NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualManualMappingCuration -NANDO:2200467 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualManualMappingCuration -NANDO:2200468 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualManualMappingCuration -NANDO:2200469 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualManualMappingCuration -NANDO:2200470 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualManualMappingCuration -NANDO:2200471 Hyperprolinemia skos:exactMatch MONDO:0023419 hyperprolinemia semapv:ManualManualMappingCuration -NANDO:2200472 Prolidase deficiency skos:exactMatch MONDO:0008221 prolidase deficiency semapv:ManualManualMappingCuration -NANDO:2200473 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualManualMappingCuration -NANDO:2200474 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualManualMappingCuration -NANDO:2200475 Hypermethioninemia skos:exactMatch MONDO:0000351 disorder of methionine catabolism semapv:ManualManualMappingCuration -NANDO:2200476 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualManualMappingCuration -NANDO:2200477 N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualManualMappingCuration -NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualManualMappingCuration -NANDO:2200479 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualManualMappingCuration -NANDO:2200480 Argininosuccinate synthetase deficiency skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualManualMappingCuration -NANDO:2200481 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualManualMappingCuration -NANDO:2200482 Hyperargininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualManualMappingCuration -NANDO:2200483 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualManualMappingCuration -NANDO:2200484 Hyperornithinemia skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualManualMappingCuration -NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch MONDO:0009393 ornithine translocase deficiency semapv:ManualManualMappingCuration -NANDO:2200486 Gyrate atrophy of choroid and retina skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualManualMappingCuration -NANDO:2200487 Hartnup disease skos:exactMatch MONDO:0009324 Hartnup disease semapv:ManualManualMappingCuration -NANDO:2200488 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualManualMappingCuration -NANDO:2200489 Cystinuria skos:exactMatch MONDO:0009067 cystinuria semapv:ManualManualMappingCuration -NANDO:2200491 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualManualMappingCuration -NANDO:2200492 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualManualMappingCuration -NANDO:2200493 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualManualMappingCuration -NANDO:2200494 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualManualMappingCuration -NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:ManualManualMappingCuration -NANDO:2200496 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualManualMappingCuration -NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualManualMappingCuration -NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:ManualManualMappingCuration -NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:ManualManualMappingCuration -NANDO:2200500 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualManualMappingCuration -NANDO:2200501 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2200502 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2200503 Primary hyperoxaluria skos:exactMatch MONDO:0002474 primary hyperoxaluria semapv:ManualManualMappingCuration -NANDO:2200504 Alkaptonuria skos:exactMatch MONDO:0008753 alkaptonuria semapv:ManualManualMappingCuration -NANDO:2200505 Glycerol kinase deficiency skos:exactMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:ManualManualMappingCuration -NANDO:2200506 Inborn errors of bile acid metabolism skos:exactMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:ManualManualMappingCuration -NANDO:2200508 Organic cation transporter 2 deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualManualMappingCuration -NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualManualMappingCuration -NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualManualMappingCuration -NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualManualMappingCuration -NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2200515 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualManualMappingCuration -NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2200519 Pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:ManualManualMappingCuration -NANDO:2200520 Fumarase deficiency skos:exactMatch MONDO:0011730 fumaric aciduria semapv:ManualManualMappingCuration -NANDO:2200522 Mitochondrial respiratory chain disorders skos:exactMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:ManualManualMappingCuration -NANDO:2200523 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualManualMappingCuration -NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:exactMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:ManualManualMappingCuration -NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualManualMappingCuration -NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualManualMappingCuration -NANDO:2200527 Leigh syndrome skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualManualMappingCuration -NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualManualMappingCuration -NANDO:2200529 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualManualMappingCuration -NANDO:2200531 Hereditary fructose intolerance skos:exactMatch MONDO:0009249 hereditary fructose intolerance semapv:ManualManualMappingCuration -NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualManualMappingCuration -NANDO:2200533 Galactokinase deficiency skos:exactMatch MONDO:0009255 galactokinase deficiency semapv:ManualManualMappingCuration -NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:exactMatch MONDO:0009257 galactose epimerase deficiency semapv:ManualManualMappingCuration -NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:exactMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:ManualManualMappingCuration -NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:ManualManualMappingCuration -NANDO:2200537 Glycogen synthase deficiency skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualManualMappingCuration -NANDO:2200538 Glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualManualMappingCuration -NANDO:2200539 Glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualManualMappingCuration -NANDO:2200540 Glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualManualMappingCuration -NANDO:2200541 Glycogen storage disease type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualManualMappingCuration -NANDO:2200542 Glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualManualMappingCuration -NANDO:2200543 Glycogen storage disease type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualManualMappingCuration -NANDO:2200544 Glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualManualMappingCuration -NANDO:2200545 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualManualMappingCuration -NANDO:2200547 Mucopolysaccharidosis type I skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualManualMappingCuration -NANDO:2200548 Mucopolysaccharidosis type II skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualManualMappingCuration -NANDO:2200549 Mucopolysaccharidosis type III skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualManualMappingCuration -NANDO:2200550 Mucopolysaccharidosis type IV skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualManualMappingCuration -NANDO:2200551 Mucopolysaccharidosis type VI skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualManualMappingCuration -NANDO:2200552 Mucopolysaccharidosis type VII skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualManualMappingCuration -NANDO:2200553 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualManualMappingCuration -NANDO:2200555 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualManualMappingCuration -NANDO:2200556 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualManualMappingCuration -NANDO:2200557 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualManualMappingCuration -NANDO:2200558 GM1 Gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualManualMappingCuration -NANDO:2200559 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualManualMappingCuration -NANDO:2200560 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualManualMappingCuration -NANDO:2200561 Niemann-Pick disease skos:exactMatch MONDO:0001982 Niemann-Pick disease semapv:ManualManualMappingCuration -NANDO:2200562 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualManualMappingCuration -NANDO:2200563 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualManualMappingCuration -NANDO:2200564 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualManualMappingCuration -NANDO:2200565 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualManualMappingCuration -NANDO:2200566 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualManualMappingCuration -NANDO:2200567 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualManualMappingCuration -NANDO:2200568 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualManualMappingCuration -NANDO:2200569 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualManualMappingCuration -NANDO:2200570 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualManualMappingCuration -NANDO:2200571 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualManualMappingCuration -NANDO:2200572 Free Sialic Acid Storage Disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualManualMappingCuration -NANDO:2200573 Neuronal ceroid lipofuscinoses skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:2200575 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualManualMappingCuration -NANDO:2200576 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualManualMappingCuration -NANDO:2200577 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualManualMappingCuration -NANDO:2200579 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualManualMappingCuration -NANDO:2200580 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualManualMappingCuration -NANDO:2200581 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualManualMappingCuration -NANDO:2200582 Aceruloplasminemia skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualManualMappingCuration -NANDO:2200583 Sulfite oxidase deficiency skos:exactMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:ManualManualMappingCuration -NANDO:2200584 Acrodermatitis enteropathica skos:exactMatch MONDO:0008713 acrodermatitis enteropathica semapv:ManualManualMappingCuration -NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:ManualManualMappingCuration -NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:ManualManualMappingCuration -NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:exactMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:ManualManualMappingCuration -NANDO:2200588 Xanthinuria skos:exactMatch MONDO:0000721 xanthinuria semapv:ManualManualMappingCuration -NANDO:2200590 Orotic aciduria skos:exactMatch MONDO:0009797 orotic aciduria semapv:ManualManualMappingCuration -NANDO:2200592 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualManualMappingCuration -NANDO:2200594 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualManualMappingCuration -NANDO:2200595 Tyrosine hydroxylase deficiency skos:exactMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:ManualManualMappingCuration -NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualManualMappingCuration -NANDO:2200597 Dopamine beta hydroxylase deficiency skos:exactMatch MONDO:0009123 orthostatic hypotension 1 semapv:ManualManualMappingCuration -NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:exactMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:ManualManualMappingCuration -NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0005439 familial hypercholesterolemia semapv:ManualManualMappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:ManualManualMappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0016525 familial hyperaldosteronism semapv:ManualManualMappingCuration -NANDO:2200604 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualManualMappingCuration -NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0017773 hypoalphalipoproteinemia semapv:ManualManualMappingCuration -NANDO:2200607 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualManualMappingCuration -NANDO:2200608 Lipoid proteinosis skos:exactMatch MONDO:0009530 lipoid proteinosis semapv:ManualManualMappingCuration -NANDO:2200611 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualManualMappingCuration -NANDO:2200612 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualManualMappingCuration -NANDO:2200614 Congenital red cell aplasia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualManualMappingCuration -NANDO:2200615 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualManualMappingCuration -NANDO:2200616 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualManualMappingCuration -NANDO:2200617 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualManualMappingCuration -NANDO:2200618 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualManualMappingCuration -NANDO:2200619 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualManualMappingCuration -NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualManualMappingCuration -NANDO:2200622 Hereditary spherocytosis skos:exactMatch MONDO:0019350 hereditary spherocytosis semapv:ManualManualMappingCuration -NANDO:2200623 Hereditary stomatocytosis skos:exactMatch MONDO:0020102 hereditary stomatocytosis semapv:ManualManualMappingCuration -NANDO:2200624 Sickle cell disease skos:exactMatch MONDO:0011382 sickle cell anemia semapv:ManualManualMappingCuration -NANDO:2200625 Unstable hemoglobin disease skos:exactMatch MONDO:0020459 unstable hemoglobin disease semapv:ManualManualMappingCuration -NANDO:2200626 Thalassemia skos:exactMatch MONDO:0000984 thalassemia semapv:ManualManualMappingCuration -NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:exactMatch MONDO:0005775 G6PD deficiency semapv:ManualManualMappingCuration -NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:ManualManualMappingCuration -NANDO:2200630 Hereditary elliptocytosis skos:exactMatch MONDO:0017319 hereditary elliptocytosis semapv:ManualManualMappingCuration -NANDO:2200631 Hereditary pyropoikilocytosis skos:exactMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:ManualManualMappingCuration -NANDO:2200633 Stomatocytic xerocytosis skos:exactMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:ManualManualMappingCuration -NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:exactMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:ManualManualMappingCuration -NANDO:2200635 Hemoglobin C disease skos:exactMatch MONDO:0016242 hemoglobin C disease semapv:ManualManualMappingCuration -NANDO:2200636 Hemolytic anemia skos:exactMatch MONDO:0003664 hemolytic anemia semapv:ManualManualMappingCuration -NANDO:2200637 Hypersplenism skos:exactMatch MONDO:0006795 hypersplenism semapv:ManualManualMappingCuration -NANDO:2200639 Disseminated intravascular coagulation skos:exactMatch MONDO:0001243 disseminated intravascular coagulation semapv:ManualManualMappingCuration -NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:exactMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:ManualManualMappingCuration -NANDO:2200641 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualManualMappingCuration -NANDO:2200643 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualManualMappingCuration -NANDO:2200644 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualManualMappingCuration -NANDO:2200645 Immune thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualManualMappingCuration -NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:exactMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:ManualManualMappingCuration -NANDO:2200648 Heparin-induced thrombocytopenia skos:exactMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:ManualManualMappingCuration -NANDO:2200649 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualManualMappingCuration -NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:ManualManualMappingCuration -NANDO:2200652 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualManualMappingCuration -NANDO:2200653 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualManualMappingCuration -NANDO:2200654 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualManualMappingCuration -NANDO:2200655 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualManualMappingCuration -NANDO:2200656 Bernard-Soulier syndrome skos:exactMatch MONDO:0009276 Bernard-Soulier syndrome semapv:ManualManualMappingCuration -NANDO:2200657 Thrombasthenia skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualManualMappingCuration -NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:exactMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:ManualManualMappingCuration -NANDO:2200661 Thrombocytopenia with absent radii skos:exactMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:ManualManualMappingCuration -NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:exactMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:ManualManualMappingCuration -NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:exactMatch MONDO:0008555 thrombocytopenia 2 semapv:ManualManualMappingCuration -NANDO:2200664 ITGA2B/ITGB3 mutations skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualManualMappingCuration -NANDO:2200665 ACTN1 mutations skos:exactMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:ManualManualMappingCuration -NANDO:2200667 β-1 tubulin disorders skos:exactMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:ManualManualMappingCuration -NANDO:2200668 Platelet-type von Willebrand disease skos:exactMatch MONDO:0008332 platelet-type von Willebrand disease semapv:ManualManualMappingCuration -NANDO:2200669 ADP receptor deficiencies skos:exactMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:ManualManualMappingCuration -NANDO:2200670 Abnormalities in platelet collagen receptors skos:exactMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:ManualManualMappingCuration -NANDO:2200671 Scott syndrome skos:exactMatch MONDO:0009885 Scott syndrome semapv:ManualManualMappingCuration -NANDO:2200674 Factor V deficiency skos:exactMatch MONDO:0020586 factor V deficiency semapv:ManualManualMappingCuration -NANDO:2200675 Factor VII deficiency skos:exactMatch MONDO:0002244 factor VII deficiency semapv:ManualManualMappingCuration -NANDO:2200676 Hemophilia A skos:exactMatch MONDO:0010602 hemophilia A semapv:ManualManualMappingCuration -NANDO:2200677 Hemophilia B skos:exactMatch MONDO:0010604 hemophilia B semapv:ManualManualMappingCuration -NANDO:2200678 Factor X deficiency skos:exactMatch MONDO:0002247 factor X deficiency semapv:ManualManualMappingCuration -NANDO:2200679 Factor XI deficiency skos:exactMatch MONDO:0020587 factor XI deficiency semapv:ManualManualMappingCuration -NANDO:2200680 Factor XII deficiency skos:exactMatch MONDO:0009315 congenital factor XII deficiency semapv:ManualManualMappingCuration -NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0002241 factor XIII deficiency semapv:ManualManualMappingCuration -NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0018029 congenital factor XIII deficiency semapv:ManualManualMappingCuration -NANDO:2200682 Von Willebrand disease skos:exactMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:ManualManualMappingCuration -NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0012901 inherited prekallikrein deficiency semapv:ManualManualMappingCuration -NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0044744 prekallikrein deficiency semapv:ManualManualMappingCuration -NANDO:2200685 High molecular weight kininogen deficiency skos:exactMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:ManualManualMappingCuration -NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:exactMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:ManualManualMappingCuration -NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:exactMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:ManualManualMappingCuration -NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:exactMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:ManualManualMappingCuration -NANDO:2200689 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualManualMappingCuration -NANDO:2200690 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualManualMappingCuration -NANDO:2200692 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualManualMappingCuration -NANDO:2200693 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualManualMappingCuration -NANDO:2200694 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualManualMappingCuration -NANDO:2200695 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualManualMappingCuration -NANDO:2200696 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualManualMappingCuration -NANDO:2200697 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualManualMappingCuration -NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualManualMappingCuration -NANDO:2200699 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualManualMappingCuration -NANDO:2200701 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualManualMappingCuration -NANDO:2200702 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualManualMappingCuration -NANDO:2200704 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualManualMappingCuration -NANDO:2200705 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualManualMappingCuration -NANDO:2200706 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualManualMappingCuration -NANDO:2200707 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualManualMappingCuration -NANDO:2200708 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualManualMappingCuration -NANDO:2200710 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualManualMappingCuration -NANDO:2200711 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualManualMappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualManualMappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualManualMappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualManualMappingCuration -NANDO:2200713 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualManualMappingCuration -NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualManualMappingCuration -NANDO:2200715 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualManualMappingCuration -NANDO:2200716 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualManualMappingCuration -NANDO:2200717 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualManualMappingCuration -NANDO:2200718 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualManualMappingCuration -NANDO:2200719 Isolated IgG subclass deficiency skos:exactMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:ManualManualMappingCuration -NANDO:2200720 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualManualMappingCuration -NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualManualMappingCuration -NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualManualMappingCuration -NANDO:2200724 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualManualMappingCuration -NANDO:2200725 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualManualMappingCuration -NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualManualMappingCuration -NANDO:2200728 Perforin deficiency skos:exactMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:ManualManualMappingCuration -NANDO:2200729 UNC13D/Munc13-4 deficiency skos:exactMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:ManualManualMappingCuration -NANDO:2200730 Syntaxin 11 deficiency skos:exactMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:ManualManualMappingCuration -NANDO:2200731 STXBP2/Munc18-2 deficiency skos:exactMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:ManualManualMappingCuration -NANDO:2200732 Griscelli syndrome type 2 skos:exactMatch MONDO:0011872 Griscelli syndrome type 2 semapv:ManualManualMappingCuration -NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:exactMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:ManualManualMappingCuration -NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:exactMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:ManualManualMappingCuration -NANDO:2200735 CD27 deficiency skos:exactMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:ManualManualMappingCuration -NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:ManualManualMappingCuration -NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualManualMappingCuration -NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:ManualManualMappingCuration -NANDO:2200740 Caspase-8 deficiency skos:exactMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:ManualManualMappingCuration -NANDO:2200741 Fas-associated death domain protein deficiency skos:exactMatch MONDO:0013408 FADD-related immunodeficiency semapv:ManualManualMappingCuration -NANDO:2200743 PKC-δ deficiency skos:exactMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:ManualManualMappingCuration -NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:exactMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:ManualManualMappingCuration -NANDO:2200745 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualManualMappingCuration -NANDO:2200746 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualManualMappingCuration -NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:exactMatch MONDO:0011405 poikiloderma with neutropenia semapv:ManualManualMappingCuration -NANDO:2200750 Cohen syndrome skos:exactMatch MONDO:0008999 Cohen syndrome semapv:ManualManualMappingCuration -NANDO:2200751 Barth syndrome skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualManualMappingCuration -NANDO:2200752 P14 deficiency skos:exactMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:ManualManualMappingCuration -NANDO:2200753 X linked severe congenital neutropenia skos:exactMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:ManualManualMappingCuration -NANDO:2200754 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualManualMappingCuration -NANDO:2200755 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualManualMappingCuration -NANDO:2200756 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualManualMappingCuration -NANDO:2200757 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualManualMappingCuration -NANDO:2200758 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualManualMappingCuration -NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualManualMappingCuration -NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualManualMappingCuration -NANDO:2200762 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualManualMappingCuration -NANDO:2200763 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualManualMappingCuration -NANDO:2200764 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualManualMappingCuration -NANDO:2200766 HOIL-1 deficiency skos:exactMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualManualMappingCuration -NANDO:2200767 WHIM syndrome skos:exactMatch MONDO:0008674 obsolete WHIM syndrome semapv:ManualManualMappingCuration -NANDO:2200768 Epidermodysplasia verruciformis skos:exactMatch MONDO:0009176 epidermodysplasia verruciformis semapv:ManualManualMappingCuration -NANDO:2200770 STAT2 deficiency skos:exactMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:ManualManualMappingCuration -NANDO:2200771 MCM4 mutation skos:exactMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:ManualManualMappingCuration -NANDO:2200772 Herpes simplex encephalitis skos:exactMatch MONDO:0012521 herpes simplex encephalitis semapv:ManualManualMappingCuration -NANDO:2200774 Trypanosomiasis skos:exactMatch MONDO:0000940 trypanosomiasis semapv:ManualManualMappingCuration -NANDO:2200775 Isolated congenital asplenia skos:exactMatch MONDO:0010066 familial isolated congenital asplenia semapv:ManualManualMappingCuration -NANDO:2200776 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualManualMappingCuration -NANDO:2200777 C1q deficiency skos:exactMatch MONDO:0013343 C1Q deficiency semapv:ManualManualMappingCuration -NANDO:2200779 C1s deficiency skos:exactMatch MONDO:0013419 complement component C1s deficiency semapv:ManualManualMappingCuration -NANDO:2200781 C2 deficiency skos:exactMatch MONDO:0009006 complement component 2 deficiency semapv:ManualManualMappingCuration -NANDO:2200782 C3 deficiency skos:exactMatch MONDO:0013417 complement component 3 deficiency semapv:ManualManualMappingCuration -NANDO:2200783 C5 deficiency skos:exactMatch MONDO:0012295 complement component 5 deficiency semapv:ManualManualMappingCuration -NANDO:2200784 C6 deficiency skos:exactMatch MONDO:0012908 complement component 6 deficiency semapv:ManualManualMappingCuration -NANDO:2200785 C7 deficiency skos:exactMatch MONDO:0012412 complement component 7 deficiency semapv:ManualManualMappingCuration -NANDO:2200787 C9 deficiency skos:exactMatch MONDO:0013445 complement component 9 deficiency semapv:ManualManualMappingCuration -NANDO:2200789 Properdin deficiency skos:exactMatch MONDO:0010713 properdin deficiency, X-linked semapv:ManualManualMappingCuration -NANDO:2200791 Factor H deficiency skos:exactMatch MONDO:0012350 complement factor H deficiency semapv:ManualManualMappingCuration -NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:exactMatch MONDO:0017398 3MC syndrome semapv:ManualManualMappingCuration -NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualManualMappingCuration -NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualManualMappingCuration -NANDO:2200797 Factor B deficiency skos:exactMatch MONDO:0014255 complement factor b deficiency semapv:ManualManualMappingCuration -NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:ManualManualMappingCuration -NANDO:2200803 CD46 deficiency skos:exactMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:ManualManualMappingCuration -NANDO:2200804 Primary CD59 deficiency skos:exactMatch MONDO:0012858 primary CD59 deficiency semapv:ManualManualMappingCuration -NANDO:2200805 Hyper eosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualManualMappingCuration -NANDO:2200806 Hypereosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualManualMappingCuration -NANDO:2200807 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualManualMappingCuration -NANDO:2200808 Chronic active EB virus infection skos:exactMatch MONDO:0009194 immunodeficiency 32B semapv:ManualManualMappingCuration -NANDO:2200809 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualManualMappingCuration -NANDO:2200810 HIV infection skos:exactMatch MONDO:0005109 HIV infectious disease semapv:ManualManualMappingCuration -NANDO:2200812 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualManualMappingCuration -NANDO:2200813 Meningoencephalocele skos:exactMatch MONDO:0017079 meningoencephalocele semapv:ManualManualMappingCuration -NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualManualMappingCuration -NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualManualMappingCuration -NANDO:2200815 Spinal lipoma skos:exactMatch MONDO:0001790 spinal cord lipoma semapv:ManualManualMappingCuration -NANDO:2200816 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualManualMappingCuration -NANDO:2200817 Lissencephaly skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualManualMappingCuration -NANDO:2200818 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualManualMappingCuration -NANDO:2200819 Holoprosencephaly skos:exactMatch MONDO:0016296 holoprosencephaly semapv:ManualManualMappingCuration -NANDO:2200820 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualManualMappingCuration -NANDO:2200821 Dandy-Walker syndrome skos:exactMatch MONDO:0009072 Dandy-Walker syndrome semapv:ManualManualMappingCuration -NANDO:2200822 Congenital hydrocephalus skos:exactMatch MONDO:0016349 congenital hydrocephalus semapv:ManualManualMappingCuration -NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:exactMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualManualMappingCuration -NANDO:2200824 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualManualMappingCuration -NANDO:2200825 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualManualMappingCuration -NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualManualMappingCuration -NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualManualMappingCuration -NANDO:2200827 Neurocutaneous melanosis skos:exactMatch MONDO:0009578 neurocutaneous melanocytosis semapv:ManualManualMappingCuration -NANDO:2200828 Gorlin syndrome skos:exactMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:ManualManualMappingCuration -NANDO:2200829 von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualManualMappingCuration -NANDO:2200830 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualManualMappingCuration -NANDO:2200831 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualManualMappingCuration -NANDO:2200832 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualManualMappingCuration -NANDO:2200833 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualManualMappingCuration -NANDO:2200834 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualManualMappingCuration -NANDO:2200835 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualManualMappingCuration -NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualManualMappingCuration -NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualManualMappingCuration -NANDO:2200838 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualManualMappingCuration -NANDO:2200839 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualManualMappingCuration -NANDO:2200840 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualManualMappingCuration -NANDO:2200842 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualManualMappingCuration -NANDO:2200843 Non-syndromic craniosynostosis skos:exactMatch MONDO:0015337 isolated craniosynostosis semapv:ManualManualMappingCuration -NANDO:2200844 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualManualMappingCuration -NANDO:2200845 Crouzon disease skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualManualMappingCuration -NANDO:2200847 Carpenter syndrome skos:exactMatch MONDO:0019012 Carpenter syndrome semapv:ManualManualMappingCuration -NANDO:2200848 Saethre-Chotzen syndrome skos:exactMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:ManualManualMappingCuration -NANDO:2200850 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualManualMappingCuration -NANDO:2200851 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualManualMappingCuration -NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:exactMatch MONDO:0002327 intracranial cavernous angioma semapv:ManualManualMappingCuration -NANDO:2200853 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualManualMappingCuration -NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualManualMappingCuration -NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:ManualManualMappingCuration -NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualManualMappingCuration -NANDO:2200856 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualManualMappingCuration -NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualManualMappingCuration -NANDO:2200858 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualManualMappingCuration -NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualManualMappingCuration -NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualManualMappingCuration -NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:exactMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:ManualManualMappingCuration -NANDO:2200862 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualManualMappingCuration -NANDO:2200864 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualManualMappingCuration -NANDO:2200865 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualManualMappingCuration -NANDO:2200866 LMNA-related congenital muscular dystrophy skos:exactMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:ManualManualMappingCuration -NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualManualMappingCuration -NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualManualMappingCuration -NANDO:2200868 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualManualMappingCuration -NANDO:2200869 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualManualMappingCuration -NANDO:2200870 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualManualMappingCuration -NANDO:2200871 Multicore disease skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualManualMappingCuration -NANDO:2200875 Reducing body myopathy skos:exactMatch MONDO:0019948 reducing body myopathy semapv:ManualManualMappingCuration -NANDO:2200876 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualManualMappingCuration -NANDO:2200877 Severe myoclonic epilepsy in infancy skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualManualMappingCuration -NANDO:2200878 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualManualMappingCuration -NANDO:2200879 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualManualMappingCuration -NANDO:2200880 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualManualMappingCuration -NANDO:2200881 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualManualMappingCuration -NANDO:2200882 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualManualMappingCuration -NANDO:2200883 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualManualMappingCuration -NANDO:2200884 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualManualMappingCuration -NANDO:2200885 Segawa syndrome skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualManualMappingCuration -NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualManualMappingCuration -NANDO:2200887 Infantile neuroaxonal dystrophy skos:exactMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:ManualManualMappingCuration -NANDO:2200888 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualManualMappingCuration -NANDO:2200889 Congenital herpes simplex virus infection skos:exactMatch MONDO:0017381 congenital herpes simplex virus infection semapv:ManualManualMappingCuration -NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0005713 obsolete MONDO:0005713 semapv:ManualManualMappingCuration -NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0017361 congenital rubella syndrome semapv:ManualManualMappingCuration -NANDO:2200891 Congenital cytomegalovirus infection skos:exactMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:ManualManualMappingCuration -NANDO:2200892 Congenital toxoplasmosis skos:exactMatch MONDO:0005715 congenital toxoplasmosis semapv:ManualManualMappingCuration -NANDO:2200893 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualManualMappingCuration -NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:exactMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:ManualManualMappingCuration -NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:exactMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:ManualManualMappingCuration -NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:exactMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:ManualManualMappingCuration -NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:exactMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:ManualManualMappingCuration -NANDO:2200899 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualManualMappingCuration -NANDO:2200900 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualManualMappingCuration -NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualManualMappingCuration -NANDO:2200902 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualManualMappingCuration -NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualManualMappingCuration -NANDO:2200904 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualManualMappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualManualMappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualManualMappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualManualMappingCuration -NANDO:2200906 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualManualMappingCuration -NANDO:2200907 Lactose intolerance skos:exactMatch MONDO:0009116 obsolete lactose intolerance semapv:ManualManualMappingCuration -NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:exactMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:ManualManualMappingCuration -NANDO:2200909 Glucose-galactose malabsorption skos:exactMatch MONDO:0011731 glucose-galactose malabsorption semapv:ManualManualMappingCuration -NANDO:2200910 Enterokinase deficiency skos:exactMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:ManualManualMappingCuration -NANDO:2200911 Amylase deficiency skos:exactMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:ManualManualMappingCuration -NANDO:2200912 Lipase deficiency skos:exactMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:ManualManualMappingCuration -NANDO:2200913 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualManualMappingCuration -NANDO:2200914 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualManualMappingCuration -NANDO:2200915 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 classic familial adenomatous polyposis semapv:ManualManualMappingCuration -NANDO:2200916 Juvenile polyposis skos:exactMatch MONDO:0017380 juvenile polyposis syndrome semapv:ManualManualMappingCuration -NANDO:2200917 Peutz-Jeghers syndrome skos:exactMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:ManualManualMappingCuration -NANDO:2200918 Cowden syndrome skos:exactMatch MONDO:0016063 Cowden disease semapv:ManualManualMappingCuration -NANDO:2200919 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualManualMappingCuration -NANDO:2200920 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualManualMappingCuration -NANDO:2200921 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualManualMappingCuration -NANDO:2200923 Autoimmune enteropathy skos:exactMatch MONDO:0019787 autoimmune enteropathy semapv:ManualManualMappingCuration -NANDO:2200924 IPEX syndrome skos:exactMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualManualMappingCuration -NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualManualMappingCuration -NANDO:2200930 biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualManualMappingCuration -NANDO:2200930 biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualManualMappingCuration -NANDO:2200931 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualManualMappingCuration -NANDO:2200933 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualManualMappingCuration -NANDO:2200934 Caroli disease skos:exactMatch MONDO:0010913 Caroli disease semapv:ManualManualMappingCuration -NANDO:2200934 Caroli disease skos:exactMatch MONDO:0018808 Caroli syndrome semapv:ManualManualMappingCuration -NANDO:2200936 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualManualMappingCuration -NANDO:2200937 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualManualMappingCuration -NANDO:2200941 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualManualMappingCuration -NANDO:2200942 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualManualMappingCuration -NANDO:2200943 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualManualMappingCuration -NANDO:2200944 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualManualMappingCuration -NANDO:2200945 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualManualMappingCuration -NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualManualMappingCuration -NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualManualMappingCuration -NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualManualMappingCuration -NANDO:2200950 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualManualMappingCuration -NANDO:2200951 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualManualMappingCuration -NANDO:2200952 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualManualMappingCuration -NANDO:2200953 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualManualMappingCuration -NANDO:2200954 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualManualMappingCuration -NANDO:2200955 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualManualMappingCuration -NANDO:2200956 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualManualMappingCuration -NANDO:2200957 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualManualMappingCuration -NANDO:2200958 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualManualMappingCuration -NANDO:2200959 Beckwith-Wiedemann syndrome skos:exactMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:ManualManualMappingCuration -NANDO:2200960 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualManualMappingCuration -NANDO:2200961 5p- syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualManualMappingCuration -NANDO:2200962 4p- Syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualManualMappingCuration -NANDO:2200963 Trisomy 18 skos:exactMatch MONDO:0018071 trisomy 18 semapv:ManualManualMappingCuration -NANDO:2200964 Trisomy 13 skos:exactMatch MONDO:0018068 trisomy 13 semapv:ManualManualMappingCuration -NANDO:2200965 Down syndrome skos:exactMatch MONDO:0008608 Down syndrome semapv:ManualManualMappingCuration -NANDO:2200967 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualManualMappingCuration -NANDO:2200968 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualManualMappingCuration -NANDO:2200969 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 Loeys-Dietz syndrome semapv:ManualManualMappingCuration -NANDO:2200970 Camurati-Engelmann disease skos:exactMatch MONDO:0007542 Camurati-Engelmann disease semapv:ManualManualMappingCuration -NANDO:2200971 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualManualMappingCuration -NANDO:2200972 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualManualMappingCuration -NANDO:2200973 Hallermann-Streiff syndrome skos:exactMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:ManualManualMappingCuration -NANDO:2200974 Incontinentia pigmenti skos:exactMatch MONDO:0010631 incontinentia pigmenti semapv:ManualManualMappingCuration -NANDO:2200975 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualManualMappingCuration -NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualManualMappingCuration -NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualManualMappingCuration -NANDO:2200977 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualManualMappingCuration -NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:exactMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:ManualManualMappingCuration -NANDO:2200979 Smith-Lemli-Opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualManualMappingCuration -NANDO:2200980 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualManualMappingCuration -NANDO:2200981 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualManualMappingCuration -NANDO:2200982 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualManualMappingCuration -NANDO:2200983 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualManualMappingCuration -NANDO:2200984 MECP2 duplication syndrome skos:exactMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:ManualManualMappingCuration -NANDO:2200985 Takenouchi-Kosaki syndrome skos:exactMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:ManualManualMappingCuration -NANDO:2200986 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualManualMappingCuration -NANDO:2200987 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualManualMappingCuration -NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualManualMappingCuration -NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualManualMappingCuration -NANDO:2200990 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualManualMappingCuration -NANDO:2200991 Autosomal recessive congenital ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualManualMappingCuration -NANDO:2200992 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualManualMappingCuration -NANDO:2200993 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualManualMappingCuration -NANDO:2200994 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualManualMappingCuration -NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualManualMappingCuration -NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualManualMappingCuration -NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualManualMappingCuration -NANDO:2200998 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualManualMappingCuration -NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:exactMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:ManualManualMappingCuration -NANDO:2201000 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualManualMappingCuration -NANDO:2201001 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualManualMappingCuration -NANDO:2201002 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualManualMappingCuration -NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualManualMappingCuration -NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualManualMappingCuration -NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualManualMappingCuration -NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualManualMappingCuration -NANDO:2201005 Anhidrotic ectodermal dysplasia skos:exactMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:ManualManualMappingCuration -NANDO:2201006 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualManualMappingCuration -NANDO:2201007 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualManualMappingCuration -NANDO:2201008 Thoracic insufficiency syndrome skos:exactMatch MONDO:0015929 thoracic malformation semapv:ManualManualMappingCuration -NANDO:2201009 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualManualMappingCuration -NANDO:2201010 Hypochondroplasia skos:exactMatch MONDO:0007793 hypochondroplasia semapv:ManualManualMappingCuration -NANDO:2201011 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualManualMappingCuration -NANDO:2201012 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualManualMappingCuration -NANDO:2201013 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualManualMappingCuration -NANDO:2201014 Multiple cartilaginous exostosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualManualMappingCuration -NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualManualMappingCuration -NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualManualMappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:ManualManualMappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0016068 fibrochondrogenesis semapv:ManualManualMappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0022800 type 2 collagenopathy semapv:ManualManualMappingCuration -NANDO:2201017 Chondrodysplasia punctata skos:exactMatch MONDO:0019701 chondrodysplasia punctata semapv:ManualManualMappingCuration -NANDO:2201018 Pseudoachondroplasia skos:exactMatch MONDO:0008322 pseudoachondroplasia semapv:ManualManualMappingCuration -NANDO:2201019 Larsen syndrome skos:exactMatch MONDO:0007875 Larsen syndrome semapv:ManualManualMappingCuration -NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualManualMappingCuration -NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualManualMappingCuration -NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:exactMatch MONDO:0018240 TRPV4-related bone disorder semapv:ManualManualMappingCuration -NANDO:2201022 Osteosclerotic diseases skos:exactMatch MONDO:0002933 osteosclerosis semapv:ManualManualMappingCuration -NANDO:2201023 Pycnodysostosis skos:exactMatch MONDO:0009940 pycnodysostosis semapv:ManualManualMappingCuration -NANDO:2201024 Osteopoikilosis skos:exactMatch MONDO:0001414 osteopoikilosis semapv:ManualManualMappingCuration -NANDO:2201026 Beals syndrome skos:exactMatch MONDO:0007363 congenital contractural arachnodactyly semapv:ManualManualMappingCuration -NANDO:2201027 Blue rubber bleb nevus syndrome skos:exactMatch MONDO:0007203 blue rubber bleb nevus semapv:ManualManualMappingCuration -NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualManualMappingCuration -NANDO:2201031 Primary lymphedema skos:exactMatch MONDO:0019175 primary lymphedema semapv:ManualManualMappingCuration -NANDO:2201032 Lymphangioma skos:exactMatch MONDO:0002013 lymphangioma semapv:ManualManualMappingCuration -NANDO:2201033 Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualManualMappingCuration -NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualManualMappingCuration -NANDO:2201035 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualManualMappingCuration -NANDO:2201038 Bilateral retinoblastoma skos:exactMatch MONDO:0003075 bilateral retinoblastoma semapv:ManualManualMappingCuration -NANDO:2201040 Bronchomalacia skos:exactMatch MONDO:0008888 Williams-Campbell syndrome semapv:ManualManualMappingCuration -NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualManualMappingCuration -NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:exactMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:ManualManualMappingCuration -NANDO:2201047 Familial pulmonary arterial hypertension skos:exactMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:ManualManualMappingCuration -NANDO:2201048 Secondary pulmonary arterial hypertension skos:exactMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:ManualManualMappingCuration -NANDO:2201050 Familial central diabetes insipidus skos:exactMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:ManualManualMappingCuration -NANDO:2201052 Multiple endocrine neoplasia type 2A skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualManualMappingCuration -NANDO:2201053 Multiple endocrine neoplasia type 2B skos:exactMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:ManualManualMappingCuration -NANDO:2201054 Medullary thyroid carcinoma skos:exactMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:ManualManualMappingCuration -NANDO:2201055 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualManualMappingCuration -NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualManualMappingCuration -NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:ManualManualMappingCuration -NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:exactMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:ManualManualMappingCuration -NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:exactMatch MONDO:0011849 psoriatic arthritis semapv:ManualManualMappingCuration -NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:exactMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:ManualManualMappingCuration -NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualManualMappingCuration -NANDO:2201067 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualManualMappingCuration -NANDO:2201068 familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualManualMappingCuration -NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualManualMappingCuration -NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:exactMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:ManualManualMappingCuration -NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:exactMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:ManualManualMappingCuration -NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:exactMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:ManualManualMappingCuration -NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:exactMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:ManualManualMappingCuration -NANDO:2201075 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualManualMappingCuration -NANDO:2201076 BH4 deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualManualMappingCuration -NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualManualMappingCuration -NANDO:2201078 Classic form maple syrup urine disease skos:exactMatch MONDO:0017051 classic maple syrup urine disease semapv:ManualManualMappingCuration -NANDO:2201079 Intermediate maple syrup urine disease skos:exactMatch MONDO:0017052 intermediate maple syrup urine disease semapv:ManualManualMappingCuration -NANDO:2201080 Intermittent maple syrup urine disease skos:exactMatch MONDO:0017053 intermittent maple syrup urine disease semapv:ManualManualMappingCuration -NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:exactMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:ManualManualMappingCuration -NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualManualMappingCuration -NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:ManualManualMappingCuration -NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016601 adult-onset citrullinemia type I semapv:ManualManualMappingCuration -NANDO:2201105 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualManualMappingCuration -NANDO:2201106 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualManualMappingCuration -NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualManualMappingCuration -NANDO:2201108 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualManualMappingCuration -NANDO:2201109 Methylcobalamin deficiency cblE type skos:exactMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:ManualManualMappingCuration -NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:exactMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:ManualManualMappingCuration -NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:ManualManualMappingCuration -NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0021915 arakawa syndrome 2 semapv:ManualManualMappingCuration -NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualManualMappingCuration -NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:ManualManualMappingCuration -NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualManualMappingCuration -NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualManualMappingCuration -NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualManualMappingCuration -NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualManualMappingCuration -NANDO:2201151 Glycogen storage disease type 0a skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualManualMappingCuration -NANDO:2201152 Glycogen storage disease type 0b skos:exactMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:ManualManualMappingCuration -NANDO:2201153 Glycogen storage disease type 1a skos:exactMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:ManualManualMappingCuration -NANDO:2201154 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualManualMappingCuration -NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:exactMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:ManualManualMappingCuration -NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:exactMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:ManualManualMappingCuration -NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:exactMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:ManualManualMappingCuration -NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:exactMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:ManualManualMappingCuration -NANDO:2201163 Glycogen storage disease type IV, adult form skos:exactMatch MONDO:0009897 adult polyglucosan body disease semapv:ManualManualMappingCuration -NANDO:2201164 Glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualManualMappingCuration -NANDO:2201165 Glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualManualMappingCuration -NANDO:2201166 Glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualManualMappingCuration -NANDO:2201167 Glycogen storage disease type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualManualMappingCuration -NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualManualMappingCuration -NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualManualMappingCuration -NANDO:2201169 Scheie disease skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualManualMappingCuration -NANDO:2201170 Hurler-Scheie disease skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualManualMappingCuration -NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualManualMappingCuration -NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualManualMappingCuration -NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualManualMappingCuration -NANDO:2201174 Mucopolysaccharidosis type III A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualManualMappingCuration -NANDO:2201175 Mucopolysaccharidosis type III B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualManualMappingCuration -NANDO:2201176 Mucopolysaccharidosis type III C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualManualMappingCuration -NANDO:2201177 Mucopolysaccharidosis type III D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualManualMappingCuration -NANDO:2201178 Mucopolysaccharidosis type IV A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualManualMappingCuration -NANDO:2201179 Mucopolysaccharidosis type IV B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualManualMappingCuration -NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualManualMappingCuration -NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualManualMappingCuration -NANDO:2201189 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualManualMappingCuration -NANDO:2201190 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualManualMappingCuration -NANDO:2201191 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualManualMappingCuration -NANDO:2201192 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualManualMappingCuration -NANDO:2201193 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualManualMappingCuration -NANDO:2201196 GM1 gangliosidosis, infantile form skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualManualMappingCuration -NANDO:2201197 GM1 gangliosidosis, juvenile form skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualManualMappingCuration -NANDO:2201198 GM1 gangliosidosis, adult form skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualManualMappingCuration -NANDO:2201199 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualManualMappingCuration -NANDO:2201200 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualManualMappingCuration -NANDO:2201201 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualManualMappingCuration -NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualManualMappingCuration -NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualManualMappingCuration -NANDO:2201204 Metachromatic leukodystrophy, adult form skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualManualMappingCuration -NANDO:2201205 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualManualMappingCuration -NANDO:2201206 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualManualMappingCuration -NANDO:2201207 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualManualMappingCuration -NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualManualMappingCuration -NANDO:2201210 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualManualMappingCuration -NANDO:2201211 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualManualMappingCuration -NANDO:2201212 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualManualMappingCuration -NANDO:2201216 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualManualMappingCuration -NANDO:2201219 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualManualMappingCuration -NANDO:2201229 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualManualMappingCuration -NANDO:2201232 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualManualMappingCuration -NANDO:2201233 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualManualMappingCuration -NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualManualMappingCuration -NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualManualMappingCuration -NANDO:2201235 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualManualMappingCuration -NANDO:2201236 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualManualMappingCuration -NANDO:2201237 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualManualMappingCuration -NANDO:2201238 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualManualMappingCuration -NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualManualMappingCuration -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualManualMappingCuration -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualManualMappingCuration -NANDO:2201248 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualManualMappingCuration -NANDO:2201255 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualManualMappingCuration -NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualManualMappingCuration -NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualManualMappingCuration -NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualManualMappingCuration -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualManualMappingCuration -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualManualMappingCuration -NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualManualMappingCuration -NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualManualMappingCuration -NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualManualMappingCuration -NANDO:2201263 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualManualMappingCuration -NANDO:2201264 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualManualMappingCuration -NANDO:2201265 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualManualMappingCuration -NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualManualMappingCuration -NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualManualMappingCuration -NANDO:2201267 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualManualMappingCuration -NANDO:2201269 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualManualMappingCuration -NANDO:2201270 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualManualMappingCuration -NANDO:2201273 α-thalassemia skos:exactMatch MONDO:0011399 alpha thalassemia semapv:ManualManualMappingCuration -NANDO:2201274 β-thalassemia skos:exactMatch MONDO:0019402 beta thalassemia semapv:ManualManualMappingCuration -NANDO:2201275 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualManualMappingCuration -NANDO:2201276 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualManualMappingCuration -NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:ManualManualMappingCuration -NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:ManualManualMappingCuration -NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:ManualManualMappingCuration -NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:ManualManualMappingCuration -NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:ManualManualMappingCuration -NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualManualMappingCuration -NANDO:2201288 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualManualMappingCuration -NANDO:2201289 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualManualMappingCuration -NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualManualMappingCuration -NANDO:2201291 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualManualMappingCuration -NANDO:2201292 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualManualMappingCuration -NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualManualMappingCuration -NANDO:2201294 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualManualMappingCuration -NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualManualMappingCuration -NANDO:2201296 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualManualMappingCuration -NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualManualMappingCuration -NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualManualMappingCuration -NANDO:2201299 AGAT deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualManualMappingCuration -NANDO:2201300 GAMT deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualManualMappingCuration -NANDO:2201301 SLC6A8 deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualManualMappingCuration -NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:exactMatch MONDO:0018112 isolated scaphocephaly semapv:ManualManualMappingCuration -NANDO:2201305 Non-syndromic metopic craniosynostosis skos:exactMatch MONDO:0018065 isolated trigonocephaly semapv:ManualManualMappingCuration -NANDO:2201317 Anti-NMDA receptor encephalitis skos:exactMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:ManualManualMappingCuration -NANDO:2201319 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualManualMappingCuration -NANDO:2201320 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualManualMappingCuration -NANDO:2201321 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualManualMappingCuration -NANDO:2201322 Neuromyelitis optica skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualManualMappingCuration -NANDO:2201341 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualManualMappingCuration -NANDO:2201342 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualManualMappingCuration -NANDO:2201343 Dystrophic epidermolysis bullosa skos:exactMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:ManualManualMappingCuration -NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008702 achondrogenesis type II semapv:ManualManualMappingCuration -NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualManualMappingCuration -NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualManualMappingCuration -NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0019669 hypochondrogenesis semapv:ManualManualMappingCuration -NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:exactMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:ManualManualMappingCuration -NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:ManualManualMappingCuration -NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualManualMappingCuration -NANDO:2201350 Kniest dysplasia skos:exactMatch MONDO:0007987 Kniest dysplasia semapv:ManualManualMappingCuration -NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:exactMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:ManualManualMappingCuration -NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:ManualManualMappingCuration -NANDO:2201354 Stickler syndrome type 1 skos:exactMatch MONDO:0007160 Stickler syndrome type 1 semapv:ManualManualMappingCuration -NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualManualMappingCuration -NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualManualMappingCuration -NANDO:2201358 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualManualMappingCuration -NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:ManualManualMappingCuration -NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualManualMappingCuration -NANDO:2201361 Greenberg dysplasia skos:exactMatch MONDO:0008974 Greenberg dysplasia semapv:ManualManualMappingCuration -NANDO:2201362 Astley-Kendall dysplasia skos:exactMatch MONDO:0019408 Astley-Kendall dysplasia semapv:ManualManualMappingCuration -NANDO:2201364 Melorheostosis skos:exactMatch MONDO:0007970 melorheostosis semapv:ManualManualMappingCuration -NANDO:2201365 Dysosteosclerosis skos:exactMatch MONDO:0009138 dysosteosclerosis semapv:ManualManualMappingCuration -NANDO:2201366 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 craniometaphyseal dysplasia semapv:ManualManualMappingCuration -NANDO:2201367 Metaphyseal dysplasias skos:exactMatch MONDO:0009943 Pyle disease semapv:ManualManualMappingCuration -NANDO:2201368 Craniodiaphyseal dysplasia skos:exactMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:ManualManualMappingCuration -NANDO:2201369 Sclerosteosis skos:exactMatch MONDO:0017838 sclerosteosis semapv:ManualManualMappingCuration -NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualManualMappingCuration -NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:ManualManualMappingCuration -NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualManualMappingCuration -NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualManualMappingCuration -NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:ManualManualMappingCuration -NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualManualMappingCuration -NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:ManualManualMappingCuration -NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0009326 congenital heart block semapv:ManualManualMappingCuration -NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualManualMappingCuration -NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:ManualManualMappingCuration -NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:ManualManualMappingCuration -NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:ManualManualMappingCuration -NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualManualMappingCuration -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0019328 macrocystic lymphatic malformation semapv:ManualManualMappingCuration -NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0007099 familial visceral amyloidosis semapv:ManualManualMappingCuration -NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0007879 larynx atresia semapv:ManualManualMappingCuration -NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualManualMappingCuration -NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0015446 atypical coarctation of aorta semapv:ManualManualMappingCuration -NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:ManualManualMappingCuration -NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualManualMappingCuration -NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualManualMappingCuration -NANDO:1200174 Chronic progressive external ophthalmoplegia skos:exactMatch MONDO:0005181 progressive external ophthalmoplegia semapv:ManualManualMappingCuration -NANDO:1201032 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualManualMappingCuration -NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualManualMappingCuration -NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualManualMappingCuration -NANDO:1201035 Creatine transporter deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualManualMappingCuration -NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualManualMappingCuration -NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualManualMappingCuration -NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:exactMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:ManualManualMappingCuration -NANDO:1201038 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualManualMappingCuration -NANDO:1201039 Homocystinuria type 1 skos:exactMatch MONDO:0009352 classic homocystinuria semapv:ManualManualMappingCuration -NANDO:1201040 Homocystinuria type 2 skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualManualMappingCuration -NANDO:1201041 Homocystinuria type 3 skos:exactMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:ManualManualMappingCuration -NANDO:1201042 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualManualMappingCuration -NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:ManualManualMappingCuration -NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:ManualManualMappingCuration -NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:ManualManualMappingCuration -NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:ManualManualMappingCuration -NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:ManualManualMappingCuration -NANDO:1201048 Acquired factor X inhibitor skos:exactMatch MONDO:0021134 acquired factor X deficiency semapv:ManualManualMappingCuration -NANDO:1201049 Senior-Loken syndrome skos:exactMatch MONDO:0017842 Senior-Loken syndrome semapv:ManualManualMappingCuration -NANDO:1201050 COACH syndrome skos:exactMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:ManualManualMappingCuration -NANDO:1201051 Oral-facial-digital syndrome skos:exactMatch MONDO:0015375 orofaciodigital syndrome semapv:ManualManualMappingCuration -NANDO:1201056 End-plate acetylcholine esterase deficiency skos:exactMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:ManualManualMappingCuration -NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:exactMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:ManualManualMappingCuration -NANDO:1201058 RAPADILINO syndrome skos:exactMatch MONDO:0009955 rapadilino syndrome semapv:ManualManualMappingCuration -NANDO:1201059 Baller-Gerold syndrome skos:exactMatch MONDO:0009039 Baller-Gerold syndrome semapv:ManualManualMappingCuration -NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualManualMappingCuration -NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:exactMatch MONDO:0019731 AApoAI amyloidosis semapv:ManualManualMappingCuration -NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:exactMatch MONDO:0007097 Finnish type amyloidosis semapv:ManualManualMappingCuration -NANDO:1201064 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualManualMappingCuration -NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualManualMappingCuration -NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualManualMappingCuration -NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:exactMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:ManualManualMappingCuration -NANDO:1201068 Agyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualManualMappingCuration -NANDO:1201068 Agyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualManualMappingCuration -NANDO:1201069 Pachygyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualManualMappingCuration -NANDO:1201069 Pachygyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualManualMappingCuration -NANDO:1201070 Subcortical band heterotopia skos:exactMatch MONDO:0020491 subcortical band heterotopia semapv:ManualManualMappingCuration -NANDO:1201079 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 periventricular nodular heterotopia semapv:ManualManualMappingCuration -NANDO:1201071 Polymicrogyria skos:exactMatch MONDO:0000087 polymicrogyria semapv:ManualManualMappingCuration -NANDO:1201072 Cobblestone brain malformation skos:exactMatch MONDO:0018869 cobblestone lissencephaly semapv:ManualManualMappingCuration -NANDO:1201073 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualManualMappingCuration -NANDO:1201074 Porencephaly skos:exactMatch MONDO:0017410 porencephaly semapv:ManualManualMappingCuration -NANDO:1201080 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualManualMappingCuration -NANDO:1201081 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualManualMappingCuration -NANDO:1201083 Miller Dieker syndrome skos:exactMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:ManualManualMappingCuration -NANDO:1201075 Pseudohypoparathyroidism type 1A skos:exactMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:ManualManualMappingCuration -NANDO:1201076 Pseudohypoparathyroidism type 1B skos:exactMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:ManualManualMappingCuration -NANDO:1201077 Pseudohypoparathyroidism type 1C skos:exactMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:ManualManualMappingCuration -NANDO:1201078 Pseudohypoparathyroidism type 2 skos:exactMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:ManualManualMappingCuration -NANDO:2201385 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualManualMappingCuration -NANDO:1200892 Hereditary sideroblastic anemia skos:exactMatch MONDO:0020099 inherited sideroblastic anemia semapv:ManualManualMappingCuration -NANDO:1200079 Late infantile metachromatic leukodystrophy skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualManualMappingCuration -NANDO:1200081 Adult metachromatic leukodystrophy skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualManualMappingCuration -NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualManualMappingCuration -NANDO:1200428 Pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualManualMappingCuration -NANDO:1200480 Minicore myopathy skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualManualMappingCuration -NANDO:1200568 Focal cortical dysplasia type 2a skos:exactMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:ManualManualMappingCuration -NANDO:1200569 Focal cortical dysplasia type 2b skos:exactMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:ManualManualMappingCuration -NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualManualMappingCuration -NANDO:1200693 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualManualMappingCuration -NANDO:1200751 Alveolar hypoventilation syndrome skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualManualMappingCuration -NANDO:1200817 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualManualMappingCuration -NANDO:1200831 Phosphoglycerate kinase deficiency skos:exactMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:ManualManualMappingCuration -NANDO:1200889 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualManualMappingCuration -NANDO:1200995 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualManualMappingCuration -NANDO:2200054 Primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualManualMappingCuration -NANDO:2200111 Diffuse mesangial sclerosis skos:exactMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:ManualManualMappingCuration -NANDO:2200197 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualManualMappingCuration -NANDO:2200261 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualManualMappingCuration -NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:exactMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:ManualManualMappingCuration -NANDO:2200374 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualManualMappingCuration -NANDO:2200384 Ovarian dysgenesis skos:exactMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:ManualManualMappingCuration -NANDO:2200389 5 alpha-reductase deficiency skos:exactMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:ManualManualMappingCuration -NANDO:2200425 Polyangiitis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualManualMappingCuration -NANDO:2200441 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualManualMappingCuration -NANDO:2200450 Deficiency of the enzyme ADA2 skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualManualMappingCuration -NANDO:2200459 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualManualMappingCuration -NANDO:2200603 Familial combined hyperlipidemia skos:exactMatch MONDO:0001336 familial hyperlipidemia semapv:ManualManualMappingCuration -NANDO:2200610 Congenital porphyria skos:exactMatch MONDO:0019142 inherited porphyria semapv:ManualManualMappingCuration -NANDO:2200613 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualManualMappingCuration -NANDO:2200672 Afibrinogenemia skos:exactMatch MONDO:0008737 congenital afibrinogenemia semapv:ManualManualMappingCuration -NANDO:2200673 Hypoprothrombinemia skos:exactMatch MONDO:0013361 congenital prothrombin deficiency semapv:ManualManualMappingCuration -NANDO:2200700 ZAP-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualManualMappingCuration -NANDO:2200737 STAT5b deficiency skos:exactMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:ManualManualMappingCuration -NANDO:2200773 CARD9 deficiency skos:exactMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:ManualManualMappingCuration -NANDO:2200788 Factor D deficiency skos:exactMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:ManualManualMappingCuration -NANDO:2200790 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualManualMappingCuration -NANDO:2200793 MASP2 deficiency skos:exactMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:ManualManualMappingCuration -NANDO:2200794 Ficolin 3 Deficiency skos:exactMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:ManualManualMappingCuration -NANDO:2200798 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualManualMappingCuration -NANDO:2200872 Minicore myopathy skos:exactMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:ManualManualMappingCuration -NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:ManualManualMappingCuration -NANDO:2201268 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualManualMappingCuration -NANDO:2201277 Secondary aplastic anemia skos:exactMatch MONDO:0015610 acquired aplastic anemia semapv:ManualManualMappingCuration -NANDO:2201351 Spondyloperipheral dysplasia skos:exactMatch MONDO:0010078 spondyloperipheral dysplasia semapv:ManualManualMappingCuration +NANDO:1100001 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0004955 obsolete metabolic syndrome semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0005066 metabolic disease semapv:ManualMappingCuration +NANDO:1100004 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:1100005 Cardiovascular disease skos:exactMatch MONDO:0004995 cardiovascular disorder semapv:ManualMappingCuration +NANDO:1100006 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:1100009 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:1100010 Respiratory disease skos:exactMatch MONDO:0005087 respiratory system disorder semapv:ManualMappingCuration +NANDO:1100013 Gastrointestinal disease skos:exactMatch MONDO:0004335 digestive system disorder semapv:ManualMappingCuration +NANDO:1100014 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:1100015 Otorhinolaryngological disease skos:exactMatch MONDO:0024623 otorhinolaryngologic disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0010735 Kennedy disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0016113 bulbospinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200002 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:ManualMappingCuration +NANDO:1200003 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200004 Spinal muscular atrophy type I skos:exactMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:ManualMappingCuration +NANDO:1200005 Spinal muscular atrophy type II skos:exactMatch MONDO:0009673 spinal muscular atrophy, type II semapv:ManualMappingCuration +NANDO:1200006 Spinal muscular atrophy type III skos:exactMatch MONDO:0009672 spinal muscular atrophy, type III semapv:ManualMappingCuration +NANDO:1200007 Spinal muscular atrophy type IV skos:exactMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:ManualMappingCuration +NANDO:1200008 Primary lateral sclerosis skos:exactMatch MONDO:0018155 lateral sclerosis semapv:ManualMappingCuration +NANDO:1200009 Progressive supranuclear palsy skos:exactMatch MONDO:0019037 progressive supranuclear palsy semapv:ManualMappingCuration +NANDO:1200010 Parkinson's disease skos:exactMatch MONDO:0005180 Parkinson disease semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022308 corticobasal degeneration disorder semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022880 obsolete corticobasal degeneration semapv:ManualMappingCuration +NANDO:1200012 Huntington's disease skos:exactMatch MONDO:0007739 Huntington disease semapv:ManualMappingCuration +NANDO:1200013 Neuroacanthocytosis skos:exactMatch MONDO:0016987 neuroacanthocytosis semapv:ManualMappingCuration +NANDO:1200014 Chorea-acanthocytosis skos:exactMatch MONDO:0008695 chorea-acanthocytosis semapv:ManualMappingCuration +NANDO:1200015 McLeod syndrome skos:exactMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:ManualMappingCuration +NANDO:1200016 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:exactMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:ManualMappingCuration +NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:exactMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:ManualMappingCuration +NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:exactMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200020 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:1200021 Congenital myasthenic syndrome skos:exactMatch MONDO:0018940 congenital myasthenic syndrome semapv:ManualMappingCuration +NANDO:1200023 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:1200024 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:1200025 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200026 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200027 Neuromyelitis optica spectrum disorders skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:1200028 Baló concentric sclerosis skos:exactMatch MONDO:0016430 Balo concentric sclerosis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:1200031 Multifocal motor neuropathy skos:exactMatch MONDO:0018979 multifocal motor neuropathy semapv:ManualMappingCuration +NANDO:1200032 Sporadic inclusion body myositis skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200033 Crow-Fukase syndrome skos:exactMatch MONDO:0017364 POEMS syndrome semapv:ManualMappingCuration +NANDO:1200034 Multiple system atrophy skos:exactMatch MONDO:0007803 multiple system atrophy semapv:ManualMappingCuration +NANDO:1200035 Multiple system atrophy, cerebellar type skos:exactMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:ManualMappingCuration +NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:exactMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:ManualMappingCuration +NANDO:1200037 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:1200041 Spinocerebellar ataxia type 3 skos:exactMatch MONDO:0007182 Machado-Joseph disease semapv:ManualMappingCuration +NANDO:1200042 Spinocerebellar ataxia type 6 skos:exactMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:ManualMappingCuration +NANDO:1200043 Dentatorubropallidoluysian atrophy skos:exactMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:ManualMappingCuration +NANDO:1200044 Spinocerebellar ataxia type 31 skos:exactMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:ManualMappingCuration +NANDO:1200045 Spinocerebellar ataxia type 1 skos:exactMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:ManualMappingCuration +NANDO:1200046 Spinocerebellar ataxia type 2 skos:exactMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:ManualMappingCuration +NANDO:1200047 Spinocerebellar ataxia type 7 skos:exactMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:ManualMappingCuration +NANDO:1200048 Spinocerebellar ataxia type 36 skos:exactMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:ManualMappingCuration +NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:exactMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:ManualMappingCuration +NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:exactMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualMappingCuration +NANDO:1200052 Hereditary spastic paraplegia skos:exactMatch MONDO:0019064 hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200053 Pure hereditary spastic paraplegia skos:exactMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200054 Complex hereditary spastic paraplegia skos:exactMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200055 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:1200056 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:1200057 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:1200058 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:1200059 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:1200061 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:1200062 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:1200063 Niemann-Pick disease type C skos:exactMatch MONDO:0018982 Niemann-Pick disease type C semapv:ManualMappingCuration +NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:1200066 GM1 gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:1200067 Infantile GM1 gangliosidosis skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:1200068 Juvenile GM1 gangliosidosis skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:1200069 Adult GM1 gangliosidosis skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:1200070 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:1200071 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:1200072 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:1200073 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:1200074 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:1200075 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:1200077 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:1200078 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:1200082 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:1200083 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200086 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:1200094 Hurler syndrome skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:1200095 Scheie syndrome skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:1200096 Hurler-Scheie syndrome skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:1200097 Hunter syndrome skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:1200098 Hunter syndrome type A skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:1200099 Hunter syndrome type B skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:1200100 Sanfilippo disease skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:1200101 Sanfilippo disease type A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:1200102 Sanfilippo disease type B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:1200103 Sanfilippo disease type C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:1200104 Sanfilippo disease type D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:1200105 Morquio syndrome skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:1200106 Morquio syndrome type A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:1200107 Morquio syndrome type B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:1200108 Maroteaux-Lamy syndrome skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200111 Sly syndrome skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:1200115 Hyaluronidase deficiency skos:exactMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:ManualMappingCuration +NANDO:1200116 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:1200117 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:1200118 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200119 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:1200120 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200124 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:1200125 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:1200126 Alpha-mannosidosis skos:exactMatch MONDO:0009561 alpha-mannosidosis semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:1200128 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:1200129 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:1200130 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:1200133 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:1200134 Schindler disease skos:exactMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:ManualMappingCuration +NANDO:1200135 Schindler disease type I skos:exactMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:ManualMappingCuration +NANDO:1200136 Schindler disease type 2 skos:exactMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:ManualMappingCuration +NANDO:1200137 Schindler disease type 3 skos:exactMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:ManualMappingCuration +NANDO:1200138 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200139 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:1200142 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200143 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200144 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:1200145 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200146 Free sialic acid storage disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:1200147 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:1200148 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:1200149 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200157 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:1200161 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200163 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200164 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:1200165 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200168 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:1200175 Leigh's encephalomyelopathy skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:1200178 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100133 mitochondrial complex I deficiency semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:ManualMappingCuration +NANDO:1200181 Mitochondrial complex II deficiency skos:exactMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:ManualMappingCuration +NANDO:1200183 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:1200186 Prion disease skos:exactMatch MONDO:0005429 prion disease semapv:ManualMappingCuration +NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200188 Genetic prion diseases skos:exactMatch MONDO:0017234 inherited prion disease semapv:ManualMappingCuration +NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:ManualMappingCuration +NANDO:1200191 Fatal familial insomnia skos:exactMatch MONDO:0010808 fatal familial insomnia semapv:ManualMappingCuration +NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:exactMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200195 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200196 Typical subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200205 Progressive multifocal leukoencephalopathy skos:exactMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200206 HTLV-1-associated myelopathy skos:exactMatch MONDO:0008039 tropical spastic paraparesis semapv:ManualMappingCuration +NANDO:1200207 Idiopathic basal ganglia calcification skos:exactMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:ManualMappingCuration +NANDO:1200208 Familial idiopathic basal ganglia calcification skos:exactMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:ManualMappingCuration +NANDO:1200209 Systemic amyloidosis skos:exactMatch MONDO:0017816 primary systemic amyloidosis semapv:ManualMappingCuration +NANDO:1200211 Amyloid light-chain amyloidosis skos:exactMatch MONDO:0019438 AL amyloidosis semapv:ManualMappingCuration +NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:exactMatch MONDO:0018018 wild type ATTR amyloidosis semapv:ManualMappingCuration +NANDO:1200214 Familial amyloid polyneuropathy skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:ManualMappingCuration +NANDO:1200216 Distal myopathy skos:exactMatch MONDO:0018949 distal myopathy semapv:ManualMappingCuration +NANDO:1200217 Miyoshi myopathy skos:exactMatch MONDO:0009685 Miyoshi myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0011603 GNE myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 oculopharyngodistal myopathy semapv:ManualMappingCuration +NANDO:1200220 Bethlem Myopathy skos:exactMatch MONDO:0008029 Bethlem myopathy semapv:ManualMappingCuration +NANDO:1200222 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200223 X-linked Myopathy with excessive autophagy skos:exactMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:ManualMappingCuration +NANDO:1200224 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0007039 neurofibromatosis type 2 semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200228 Pemphigus skos:exactMatch MONDO:0006594 pemphigus semapv:ManualMappingCuration +NANDO:1200229 Pemphigus vulgaris skos:exactMatch MONDO:0008219 pemphigus vulgaris semapv:ManualMappingCuration +NANDO:1200230 Pemphigus foliaceus skos:exactMatch MONDO:0019324 pemphigus foliaceus semapv:ManualMappingCuration +NANDO:1200231 Paraneoplastic pemphigus skos:exactMatch MONDO:0018974 paraneoplastic pemphigus semapv:ManualMappingCuration +NANDO:1200232 Pemphigus vegetans skos:exactMatch MONDO:0019322 pemphigus vegetans semapv:ManualMappingCuration +NANDO:1200233 Pemphigus erythematosus skos:exactMatch MONDO:0019323 pemphigus erythematosus semapv:ManualMappingCuration +NANDO:1200234 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200235 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:1200236 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200239 Kindler syndrome skos:exactMatch MONDO:0008260 Kindler syndrome semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:1200243 Impetigo herpetiformis skos:exactMatch MONDO:0004591 impetigo herpetiformis semapv:ManualMappingCuration +NANDO:1200244 Acrodermatitis continua of Hallopeau skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:1200245 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:1200246 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:1200258 Giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200259 Cranial giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200260 Large-vessel giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200261 Polyarteritis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:1200262 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:1200263 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200265 Rheumatoid vasculitis skos:exactMatch MONDO:0043267 rheumatoid vasculitis semapv:ManualMappingCuration +NANDO:1200266 Buerger's disease skos:exactMatch MONDO:0008889 thromboangiitis obliterans semapv:ManualMappingCuration +NANDO:1200267 Primary antiphospholipid antibody syndrome skos:exactMatch MONDO:0005204 primary antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200270 Catastrophic antiphospholipid syndrome skos:exactMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200271 Antiphospholipid antibody-related disease skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200272 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:1200274 Dermatomyositis skos:exactMatch MONDO:0016367 dermatomyositis semapv:ManualMappingCuration +NANDO:1200275 Amyopathic dermatomyositis skos:exactMatch MONDO:0043317 amyopathic dermatomyositis semapv:ManualMappingCuration +NANDO:1200276 Polymyositis skos:exactMatch MONDO:0019127 polymyositis semapv:ManualMappingCuration +NANDO:1200277 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:1200278 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:1200279 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200280 Primary Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200282 Adult Still's disease skos:exactMatch MONDO:0019355 adult-onset Still disease semapv:ManualMappingCuration +NANDO:1200283 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:1200284 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:1200286 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200292 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200294 Secondary restrictive cardiomyopathy skos:exactMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200295 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200296 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200302 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:1200303 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200304 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200305 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200306 Warm antibody hemolytic anemia skos:exactMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:ManualMappingCuration +NANDO:1200307 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:1200308 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:exactMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200310 Evans syndrome skos:exactMatch MONDO:0016030 Evans syndrome semapv:ManualMappingCuration +NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200315 Idiopathic thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200316 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200320 Primary immunodeficiency syndrome skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:1200321 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:1200322 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:1200323 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:1200324 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:1200326 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:1200327 Zap-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:1200328 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:1200329 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:1200330 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:1200331 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:1200332 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:1200333 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:1200334 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:1200336 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:1200337 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:1200338 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200340 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:1200342 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200343 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:1200344 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:1200345 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:1200346 IgG subclass deficiency skos:exactMatch MONDO:0045045 selective IgG immunodeficiency semapv:ManualMappingCuration +NANDO:1200347 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:1200350 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200351 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200353 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:1200354 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:1200355 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:1200356 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:1200357 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:1200358 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:1200361 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:1200362 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:1200363 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:1200364 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:1200366 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:1200367 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200368 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200369 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200371 Ossification of posterior longitudinal ligament skos:exactMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:ManualMappingCuration +NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:exactMatch MONDO:0005965 spinal stenosis semapv:ManualMappingCuration +NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:exactMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:ManualMappingCuration +NANDO:1200375 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:exactMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:ManualMappingCuration +NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:exactMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200379 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:1200381 Central precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:exactMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualMappingCuration +NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:exactMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200385 Growth hormone secreting pituitary adenoma skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200387 Hypopituitarism syndrome skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:1200388 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200390 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:1200394 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:1200396 Congenital adrenal enzyme deficiency skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200399 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200400 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200401 17-α-Hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200402 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200404 DAX1 abnormality skos:exactMatch MONDO:0010226 46,XY sex reversal 2 semapv:ManualMappingCuration +NANDO:1200405 SF-1 abnormality skos:exactMatch MONDO:0013066 46,XY sex reversal 3 semapv:ManualMappingCuration +NANDO:1200406 IMAge syndrome skos:exactMatch MONDO:0013873 IMAGe syndrome semapv:ManualMappingCuration +NANDO:1200408 MC2R deficiency skos:exactMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:ManualMappingCuration +NANDO:1200409 MRAP deficiency skos:exactMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:ManualMappingCuration +NANDO:1200410 Allgrove syndrome skos:exactMatch MONDO:0009279 triple-A syndrome semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:1200412 Autoimmune Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200415 Sarcoidosis skos:exactMatch MONDO:0019338 sarcoidosis semapv:ManualMappingCuration +NANDO:1200416 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200417 Idiopathic pulmonary fibrosis skos:exactMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:ManualMappingCuration +NANDO:1200419 Non-specific interstitial pneumonia skos:exactMatch MONDO:0019622 non-specific interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200420 Acute interstitial pneumonia skos:exactMatch MONDO:0019203 acute interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200421 Cryptogenic organizing pneumonia skos:exactMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:ManualMappingCuration +NANDO:1200422 Desquamative interstitial pneumonia skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200424 Lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200425 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200427 Pulmonary veno-occlusive disease skos:exactMatch MONDO:0009937 pulmonary venoocclusive disease semapv:ManualMappingCuration +NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:exactMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:ManualMappingCuration +NANDO:1200430 Lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 lymphangioleiomyomatosis semapv:ManualMappingCuration +NANDO:1200431 Retinitis pigmentosa skos:exactMatch MONDO:0019200 retinitis pigmentosa semapv:ManualMappingCuration +NANDO:1200437 Budd-Chiari syndrome skos:exactMatch MONDO:0010947 Budd-Chiari syndrome semapv:ManualMappingCuration +NANDO:1200438 Idiopathic portal hypertension skos:exactMatch MONDO:0021969 Banti syndrome semapv:ManualMappingCuration +NANDO:1200439 Primary biliary cholangitis skos:exactMatch MONDO:0005388 primary biliary cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200441 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200442 Typical autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200444 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200445 small bowel Crohn disease skos:exactMatch MONDO:0005539 small bowel Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005532 Crohn's colitis semapv:ManualMappingCuration +NANDO:1200447 Crohn ileocolitis skos:exactMatch MONDO:0005534 ileocolitis semapv:ManualMappingCuration +NANDO:1200449 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:1200450 Pan-ulcerative colitis skos:exactMatch MONDO:0005536 pancolitis semapv:ManualMappingCuration +NANDO:1200451 Left-sided colitis skos:exactMatch MONDO:0005533 distal colitis semapv:ManualMappingCuration +NANDO:1200454 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:1200456 Eosinophilic esophagitis skos:exactMatch MONDO:0005361 eosinophilic esophagitis semapv:ManualMappingCuration +NANDO:1200457 Eosinophilic gastroenteritis skos:exactMatch MONDO:0016129 eosinophilic gastroenteritis semapv:ManualMappingCuration +NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:1200460 Congenital isolated hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:1200461 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:1200462 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:1200463 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:1200464 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:1200465 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:1200466 Familial cold autoinflammatorysyndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200467 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:1200469 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200470 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:1200473 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200476 Blau syndrome skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:1200477 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:1200478 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:1200479 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:1200481 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200483 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:1200485 Marinesco-Sjogren syndrome skos:exactMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200486 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:1200487 Dystrophinopathies skos:exactMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:ManualMappingCuration +NANDO:1200488 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:1200489 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:1200490 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:1200493 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:ManualMappingCuration +NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:1200495 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:1200496 Non-dystrophic myotonia skos:exactMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:ManualMappingCuration +NANDO:1200497 Myotonia congenita skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200498 Thomsen disease skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200499 Becker disease skos:exactMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:ManualMappingCuration +NANDO:1200500 Sodium channel myotonia skos:exactMatch MONDO:0018959 potassium-aggravated myotonia semapv:ManualMappingCuration +NANDO:1200501 Paramyotonia congenita skos:exactMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:ManualMappingCuration +NANDO:1200502 Hereditary periodic paralysis skos:exactMatch MONDO:0000995 familial periodic paralysis semapv:ManualMappingCuration +NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:exactMatch MONDO:0008223 hypokalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:exactMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200506 Syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200507 Symptomatic syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:1200510 Isaacs syndrome skos:exactMatch MONDO:0019399 Isaac syndrome semapv:ManualMappingCuration +NANDO:1200511 Hereditary dystonia skos:exactMatch MONDO:0044807 inherited dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0044808 obsolete early onset primary dystonia semapv:ManualMappingCuration +NANDO:1200513 Dystonia 2 skos:exactMatch MONDO:0009141 torsion dystonia 2 semapv:ManualMappingCuration +NANDO:1200514 Dystonia 3 skos:exactMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:ManualMappingCuration +NANDO:1200515 Dystonia 4 skos:exactMatch MONDO:0007493 torsion dystonia 4 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0007495 dystonia 5 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:1200517 Dystonia 6 skos:exactMatch MONDO:0011264 torsion dystonia 6 semapv:ManualMappingCuration +NANDO:1200518 Dystonia 7 skos:exactMatch MONDO:0011200 torsion dystonia 7 semapv:ManualMappingCuration +NANDO:1200519 Dystonia 8 skos:exactMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200520 Dystonia 9 skos:exactMatch MONDO:0010983 dystonia 9 semapv:ManualMappingCuration +NANDO:1200521 Dystonia 10 skos:exactMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200522 Dystonia 11 skos:exactMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:ManualMappingCuration +NANDO:1200523 Dystonia 12 skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200525 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:exactMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:ManualMappingCuration +NANDO:1200527 Dystonia 13 skos:exactMatch MONDO:0011886 torsion dystonia 13 semapv:ManualMappingCuration +NANDO:1200528 Dystonia 15 skos:exactMatch MONDO:0011844 myoclonic dystonia 15 semapv:ManualMappingCuration +NANDO:1200529 Dystonia 16 skos:exactMatch MONDO:0012789 dystonia 16 semapv:ManualMappingCuration +NANDO:1200530 Dystonia 17 skos:exactMatch MONDO:0012895 torsion dystonia 17 semapv:ManualMappingCuration +NANDO:1200531 Dystonia 18 skos:exactMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:ManualMappingCuration +NANDO:1200532 Dystonia 19 skos:exactMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200533 Dystonia 20 skos:exactMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:exactMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:ManualMappingCuration +NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:exactMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:ManualMappingCuration +NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200542 Neuroferritinopathy skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200543 Superficial siderosis skos:exactMatch MONDO:0016594 superficial siderosis semapv:ManualMappingCuration +NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0010829 CARASIL syndrome semapv:ManualMappingCuration +NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:exactMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:exactMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:ManualMappingCuration +NANDO:1200547 Perry syndrome skos:exactMatch MONDO:0008201 Perry syndrome semapv:ManualMappingCuration +NANDO:1200548 Frontotemporal lobar degeneration skos:exactMatch MONDO:0017276 frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200549 Behavioral variant frontotemporal dementia skos:exactMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200550 Semantic dementia skos:exactMatch MONDO:0010857 semantic dementia semapv:ManualMappingCuration +NANDO:1200551 Bickerstaff's brainstem encephalitis skos:exactMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:ManualMappingCuration +NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:1200554 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:1200555 Alexander disease type I skos:exactMatch MONDO:0018209 Alexander disease type I semapv:ManualMappingCuration +NANDO:1200556 Alexander disease type II skos:exactMatch MONDO:0018210 Alexander disease type II semapv:ManualMappingCuration +NANDO:1200558 Congenital suprabulbar paresis skos:exactMatch MONDO:0008503 Worster-Drought syndrome semapv:ManualMappingCuration +NANDO:1200559 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:ManualMappingCuration +NANDO:1200562 Aicardi syndrome skos:exactMatch MONDO:0010568 Aicardi syndrome semapv:ManualMappingCuration +NANDO:1200563 Hemimegalencephaly skos:exactMatch MONDO:0020492 hemimegalencephaly semapv:ManualMappingCuration +NANDO:1200564 Focal cortical dysplasia skos:exactMatch MONDO:0019009 isolated focal cortical dysplasia semapv:ManualMappingCuration +NANDO:1200565 Focal cortical dysplasia type 1a skos:exactMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:ManualMappingCuration +NANDO:1200566 Focal cortical dysplasia type 1b skos:exactMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:ManualMappingCuration +NANDO:1200567 Focal cortical dysplasia type 1c skos:exactMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:ManualMappingCuration +NANDO:1200574 Neuronal migration defects skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:1200576 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:1200577 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:1200579 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:1200580 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:1200582 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:1200584 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:1200587 Dravet syndrome skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:exactMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:ManualMappingCuration +NANDO:1200589 Myoclonic absence epilepsy skos:exactMatch MONDO:0019487 epilepsy with myoclonic absences semapv:ManualMappingCuration +NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:exactMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:ManualMappingCuration +NANDO:1200591 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:1200592 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:1200593 Ohtahara syndrome skos:exactMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:ManualMappingCuration +NANDO:1200594 Early myoclonic encephalopathy skos:exactMatch MONDO:0016022 early myoclonic encephalopathy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:ManualMappingCuration +NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:exactMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:ManualMappingCuration +NANDO:1200597 Ring chromosome 20 syndrome skos:exactMatch MONDO:0015436 ring chromosome 20 semapv:ManualMappingCuration +NANDO:1200598 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:1200599 PCDH19-related syndrome skos:exactMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:ManualMappingCuration +NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0019123 continuous spikes and waves during sleep semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:ManualMappingCuration +NANDO:1200602 Landau-Kleffner syndrome skos:exactMatch MONDO:0009509 Landau-Kleffner syndrome semapv:ManualMappingCuration +NANDO:1200603 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200604 Typical Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200605 Atypical Rett syndrome skos:exactMatch MONDO:0017746 atypical Rett syndrome semapv:ManualMappingCuration +NANDO:1200606 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:1200608 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:1200609 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:1200610 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200613 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200614 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:1200616 Congenital ichthyosiform erythroderma skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0017778 lamellar ichthyosis semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200618 Ichthyosis syndrome skos:exactMatch MONDO:0019269 ichthyosis semapv:ManualMappingCuration +NANDO:1200619 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200620 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200624 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200625 Recessive X-linked ichtyosis skos:exactMatch MONDO:0010622 recessive X-linked ichthyosis semapv:ManualMappingCuration +NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:exactMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200627 Trichothiodystrophy skos:exactMatch MONDO:0018053 trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200628 Ichthyosis follicularis skos:exactMatch MONDO:0043094 ichthyosis, follicular semapv:ManualMappingCuration +NANDO:1200629 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:1200630 Conradi Hünermann Happle syndrome skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:1200631 Benign familial pemphigus skos:exactMatch MONDO:0008218 Hailey-Hailey disease semapv:ManualMappingCuration +NANDO:1200633 Bullous pemphigoid skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200634 Mucous membrane pemphigoid skos:exactMatch MONDO:0018746 mucous membrane pemphigoid semapv:ManualMappingCuration +NANDO:1200635 Epidermolysis bullosa acquisita skos:exactMatch MONDO:0018747 acquired epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200637 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200638 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:ManualMappingCuration +NANDO:1200639 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200640 Griscelli syndrome skos:exactMatch MONDO:0018306 Griscelli syndrome semapv:ManualMappingCuration +NANDO:1200641 Non-syndromic oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:1200643 Pseudoxanthoma elasticum skos:exactMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:ManualMappingCuration +NANDO:1200644 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:1200645 Ehlers-Danlos Syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:1200653 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:1200654 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:1200655 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:1200656 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:1200657 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:1200658 Nasu-Hakola disease skos:exactMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:ManualMappingCuration +NANDO:1200659 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:1200660 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:1200661 Joubert syndrome and related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:1200662 Arima syndrome skos:exactMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:ManualMappingCuration +NANDO:1200663 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:1200664 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:1200665 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:1200666 Crouzon's syndrome skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:1200667 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:1200669 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:1200670 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:1200671 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:ManualMappingCuration +NANDO:1200672 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0007029 branchio-oto-renal syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0018878 branchiootic syndrome semapv:ManualMappingCuration +NANDO:1200676 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:1200677 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:1200678 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:1200679 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:1200680 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:1200681 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:1200682 1p36 deletion syndrome skos:exactMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:ManualMappingCuration +NANDO:1200683 4p deletion syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:1200684 5p deletion syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:exactMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:ManualMappingCuration +NANDO:1200686 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:1200687 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200689 Emanuel syndrome skos:exactMatch MONDO:0012176 Emanuel syndrome semapv:ManualMappingCuration +NANDO:1200690 Fragile X syndrome related diseases skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200691 Fragile X tremor/ataxia syndrome skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200692 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:1200698 Corrected transposition of great arteries skos:exactMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200699 Complete transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200704 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:1200705 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:1200706 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:1200709 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:1200710 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:1200711 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:1200712 Alport's syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:1200713 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200718 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200719 Primary nephrotic syndrome skos:exactMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:ManualMappingCuration +NANDO:1200720 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:1200721 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:1200722 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:exactMatch MONDO:0019736 dense deposit disease semapv:ManualMappingCuration +NANDO:1200741 Henoch-Schonlein purpura nephritis skos:exactMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:ManualMappingCuration +NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:1200743 Interstitial cystitis (Hunner type) skos:exactMatch MONDO:0018301 interstitial cystitis semapv:ManualMappingCuration +NANDO:1200744 Osler disease skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:1200745 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:exactMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200750 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200752 Obesity hypoventilation syndrome skos:exactMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200753 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200755 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:1200756 Carney complex skos:exactMatch MONDO:0015285 Carney complex semapv:ManualMappingCuration +NANDO:1200757 Wolfram syndrome skos:exactMatch MONDO:0018105 Wolfram syndrome semapv:ManualMappingCuration +NANDO:1200758 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:1200759 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:1200760 Zellweger syndrome skos:exactMatch MONDO:0019609 Zellweger spectrum disorders semapv:ManualMappingCuration +NANDO:1200761 Neonatal adrenoleukodystrophy skos:exactMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200762 Infantile Refsum disease skos:exactMatch MONDO:0019174 obsolete infantile Refsum disease semapv:ManualMappingCuration +NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:ManualMappingCuration +NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:exactMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:ManualMappingCuration +NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:ManualMappingCuration +NANDO:1200766 D-bifunctional protein deficiency skos:exactMatch MONDO:0009855 d-bifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200767 Sterol carrier protein 2 deficiency skos:exactMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:ManualMappingCuration +NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:exactMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:ManualMappingCuration +NANDO:1200769 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:exactMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:ManualMappingCuration +NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:ManualMappingCuration +NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:ManualMappingCuration +NANDO:1200773 Primary hyperoxaluria type 1 skos:exactMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:ManualMappingCuration +NANDO:1200774 Acatalasemia skos:exactMatch MONDO:0013571 acatalasia semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200776 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:ManualMappingCuration +NANDO:1200780 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:exactMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:ManualMappingCuration +NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:exactMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:ManualMappingCuration +NANDO:1200784 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200785 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200786 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:1200788 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:1200789 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:1200790 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:1200791 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:1200792 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:1200793 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:exactMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualMappingCuration +NANDO:1200795 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:1200796 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:1200797 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:1200798 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:1200800 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200801 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200802 Urea cycle disorder skos:exactMatch MONDO:0004739 urea cycle disorder semapv:ManualMappingCuration +NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:1200804 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:1200805 Classic citrullinemia skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:1200806 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:1200807 Argininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:1200808 NAGS deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:1200809 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:1200810 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:1200811 Porphyria skos:exactMatch MONDO:0037939 porphyria semapv:ManualMappingCuration +NANDO:1200812 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:1200813 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:1200814 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200816 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:1200818 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200819 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:1200820 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:1200821 Holocarboxylase synthetase deficiency skos:exactMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:ManualMappingCuration +NANDO:1200822 Biotinidase deficiency skos:exactMatch MONDO:0009665 biotinidase deficiency semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0016118 obsolete muscular glycogenosis semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200825 Glycogen storage diseases type II skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200826 Glycogen storage diseases type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0008222 Andersen-Tawil syndrome semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200828 Glycogen storage diseases type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:1200829 Glycogen storage diseases type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200830 Glycogen storage diseases type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:1200832 Glycogen storage diseases type X skos:exactMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:ManualMappingCuration +NANDO:1200833 Glycogen storage diseases type XI skos:exactMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:ManualMappingCuration +NANDO:1200834 Glycogen storage diseases type XII skos:exactMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:ManualMappingCuration +NANDO:1200835 Glycogen storage diseases type XIII skos:exactMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:ManualMappingCuration +NANDO:1200836 Glycogen storage diseases type XIV skos:exactMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:ManualMappingCuration +NANDO:1200837 Glycogen storage diseases type XV skos:exactMatch MONDO:0013291 glycogen storage disease XV semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0002412 disorder of glycogen metabolism semapv:ManualMappingCuration +NANDO:1200840 Hepatic glycogen storage disease type Ia skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:ManualMappingCuration +NANDO:1200844 Hepatic GSD type IIIc skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200846 Hepatic glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:1200847 Hepatic glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:1200848 Hepatic glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:1200849 Hepatic glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:1200850 Hepatic glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0009515 Norum disease semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0018999 LCAT deficiency semapv:ManualMappingCuration +NANDO:1200853 Sitosterolemia skos:exactMatch MONDO:0008863 sitosterolemia semapv:ManualMappingCuration +NANDO:1200854 Tangier disease skos:exactMatch MONDO:0008783 Tangier disease semapv:ManualMappingCuration +NANDO:1200856 Cerebrotendinous xanthomatosis skos:exactMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:ManualMappingCuration +NANDO:1200857 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:1200858 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0006536 congenital generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:1200860 Acquired generalized lipodystrophy skos:exactMatch MONDO:0019193 acquired generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200861 Familial partial lipodystrophy skos:exactMatch MONDO:0020088 familial partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200862 Acquired partial lipodystrophy skos:exactMatch MONDO:0012104 acquired partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200863 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200864 Typical familial Mediterranean fever skos:exactMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0012481 mevalonic aciduria semapv:ManualMappingCuration +NANDO:1200867 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:1200870 Ankylosing spondylitis skos:exactMatch MONDO:0005306 ankylosing spondylitis semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:1200873 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:1200874 Thanatophoric dysplasia skos:exactMatch MONDO:0017042 thanatophoric dysplasia semapv:ManualMappingCuration +NANDO:1200875 Thanatophoric dysplasia type 1 skos:exactMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:ManualMappingCuration +NANDO:1200876 Thanatophoric dysplasia type 2 skos:exactMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:ManualMappingCuration +NANDO:1200877 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200879 obsolete Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:ManualMappingCuration +NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:1200885 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:1200886 Congenital dyserythropoietic anemia type I skos:exactMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:ManualMappingCuration +NANDO:1200887 Congenital dyserythropoietic anemia type II skos:exactMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:ManualMappingCuration +NANDO:1200888 Congenital dyserythropoietic anemia type III skos:exactMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:ManualMappingCuration +NANDO:1200890 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:1200891 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200893 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:exactMatch MONDO:0020599 acquired coagulation factor deficiency semapv:ManualMappingCuration +NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:exactMatch MONDO:0021133 acquired factor XIII deficiency semapv:ManualMappingCuration +NANDO:1200898 Acquired hemophilia A skos:exactMatch MONDO:0019139 acquired hemophilia semapv:ManualMappingCuration +NANDO:1200899 Acquired von Willebrand disease skos:exactMatch MONDO:0020460 acquired von willebrand syndrome semapv:ManualMappingCuration +NANDO:1200901 Cronkhite-Canada syndrome skos:exactMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:ManualMappingCuration +NANDO:1200903 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:1200909 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200910 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200911 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:1200918 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200919 Typical Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200921 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:1200922 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1200923 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200924 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200925 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:1200928 IgG4-related sclerosing cholangitis skos:exactMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:ManualMappingCuration +NANDO:1200930 IgG4-related kidney disease skos:exactMatch MONDO:0018671 IgG4-related kidney disease semapv:ManualMappingCuration +NANDO:1200931 Macular dystrophy skos:exactMatch MONDO:0020242 hereditary macular dystrophy semapv:ManualMappingCuration +NANDO:1200932 Vitelliform macular dystrophy skos:exactMatch MONDO:0000390 vitelliform macular dystrophy semapv:ManualMappingCuration +NANDO:1200933 Stargardt disease skos:exactMatch MONDO:0019353 Stargardt disease semapv:ManualMappingCuration +NANDO:1200934 Occult macular dystrophy skos:exactMatch MONDO:0013316 occult macular dystrophy semapv:ManualMappingCuration +NANDO:1200936 Cone dystrophy skos:exactMatch MONDO:0000455 cone dystrophy semapv:ManualMappingCuration +NANDO:1200937 Cone-rod dystrophy skos:exactMatch MONDO:0015993 cone-rod dystrophy semapv:ManualMappingCuration +NANDO:1200938 X-linked juvenile retinoschisis skos:exactMatch MONDO:0010725 X-linked retinoschisis semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0004890 partial central choroid dystrophy semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0008982 central areolar choroidal dystrophy semapv:ManualMappingCuration +NANDO:1200940 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200941 Usher syndrome skos:exactMatch MONDO:0019501 Usher syndrome semapv:ManualMappingCuration +NANDO:1200942 Usher syndrome type I skos:exactMatch MONDO:0010168 Usher syndrome type 1 semapv:ManualMappingCuration +NANDO:1200943 Usher syndrome Type II skos:exactMatch MONDO:0016484 Usher syndrome type 2 semapv:ManualMappingCuration +NANDO:1200944 Usher syndrome Type III skos:exactMatch MONDO:0016485 Usher syndrome type 3 semapv:ManualMappingCuration +NANDO:1200948 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:1200951 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:ManualMappingCuration +NANDO:1200953 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:1200954 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:1200955 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:1200956 Benign adult familial myoclonus epilepsy skos:exactMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:ManualMappingCuration +NANDO:1200957 Congenital anomalies syndrome skos:exactMatch MONDO:0000839 obsolete congenital abnormality semapv:ManualMappingCuration +NANDO:1200958 Partial trisomy 1q skos:exactMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:ManualMappingCuration +NANDO:1200959 9q34 deletion syndrome skos:exactMatch MONDO:0012455 Kleefstra syndrome semapv:ManualMappingCuration +NANDO:1200960 Cornelia de lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:1200961 Smith-lemli-opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0019813 congenital tricuspid stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0020398 congenital mitral stenosis semapv:ManualMappingCuration +NANDO:1200964 Congenital pulmonary vein stenosis skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:1200967 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:1200969 Carnitine cycle disorders skos:exactMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:ManualMappingCuration +NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:1200973 Systemic primary carnitine deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:1200974 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200978 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:exactMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0016603 citrullinemia type II semapv:ManualMappingCuration +NANDO:1200982 Sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:ManualMappingCuration +NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:exactMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:ManualMappingCuration +NANDO:1200984 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:exactMatch MONDO:0017353 neonatal glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200986 Infantile nonketotic hyperglycinemia skos:exactMatch MONDO:0017354 infantile glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200987 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:1200989 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:1200990 3-methylglutaconic aciduria type I skos:exactMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:ManualMappingCuration +NANDO:1200991 3-methylglutaconicaciduria type II skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:1200992 3-methylglutaconic aciduria type III skos:exactMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:ManualMappingCuration +NANDO:1200994 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200996 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:1200997 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:1200998 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:1201000 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 anterior segment dysgenesis semapv:ManualMappingCuration +NANDO:1201001 Aniridia skos:exactMatch MONDO:0019172 aniridia semapv:ManualMappingCuration +NANDO:1201003 Congenital tracheal stenosis skos:exactMatch MONDO:0011340 congenital tracheal stenosis semapv:ManualMappingCuration +NANDO:1201004 Congenital subglottic stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:exactMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:ManualMappingCuration +NANDO:1201007 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:1201009 Systemic granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:exactMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0019563 CREST syndrome semapv:ManualMappingCuration +NANDO:1201018 Hepatic glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1201019 Hepatic glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1201020 Hepatic glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:1201021 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1201029 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:exactMatch MONDO:0004355 childhood leukemia semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:exactMatch MONDO:0005059 leukemia semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003659 pediatric lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003660 adult lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0005062 lymphoma semapv:ManualMappingCuration +NANDO:2100005 Histiocytosis skos:exactMatch MONDO:0002637 histiocytosis semapv:ManualMappingCuration +NANDO:2100007 Central nervous system tumors skos:exactMatch MONDO:0002714 central nervous system cancer semapv:ManualMappingCuration +NANDO:2100008 Chronic kidney disease skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100009 Nephrotic syndrome skos:exactMatch MONDO:0005377 nephrotic syndrome semapv:ManualMappingCuration +NANDO:2100012 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2100015 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2100019 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2100020 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2100021 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0024327 chronic renal failure syndrome semapv:ManualMappingCuration +NANDO:2100027 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2100028 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2100031 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2100032 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2100034 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2100035 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2100036 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2100039 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2100040 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2100043 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2100044 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2100046 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2100049 Ventricular tachycardia skos:exactMatch MONDO:0005477 ventricular tachycardia semapv:ManualMappingCuration +NANDO:2100050 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2100051 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2100052 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2100053 Long QT syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2100054 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2100057 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2100058 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2100060 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2100061 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2100064 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2100070 Ischemic heart disease skos:exactMatch MONDO:0024644 myocardial ischemia semapv:ManualMappingCuration +NANDO:2100071 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2100073 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2100075 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2100076 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2100077 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2100079 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2100080 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2100082 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2100083 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2100084 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2100085 Atrial septal defect skos:exactMatch MONDO:0006664 atrial septal defect semapv:ManualMappingCuration +NANDO:2100086 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2100087 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2100090 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2100092 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2100093 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2100095 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2100098 Aortic stenosis skos:exactMatch MONDO:0004978 obsolete aortic stenosis semapv:ManualMappingCuration +NANDO:2100101 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2100103 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2100105 Valvular heart disease skos:exactMatch MONDO:0002869 heart valve disorder semapv:ManualMappingCuration +NANDO:2100109 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:2100110 Hypopituitarism skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:2100111 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2100112 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2100114 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2100115 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2100117 Diabetes insipidus skos:exactMatch MONDO:0004782 diabetes insipidus semapv:ManualMappingCuration +NANDO:2100119 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2100120 Hypothyroidism skos:exactMatch MONDO:0005420 hypothyroidism semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2100123 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100125 Autoimmune polyendocrinopathy skos:exactMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:ManualMappingCuration +NANDO:2100126 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2100131 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2100132 Hypoaldosteronism skos:exactMatch MONDO:0015900 hypoaldosteronism disease semapv:ManualMappingCuration +NANDO:2100133 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2100134 Congenital adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2100135 Precocious puberty skos:exactMatch MONDO:0000088 precocious puberty semapv:ManualMappingCuration +NANDO:2100138 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2100139 Hypergonadotropic hypogonadism skos:exactMatch MONDO:0005387 primary ovarian failure semapv:ManualMappingCuration +NANDO:2100140 Disorders of sex development skos:exactMatch MONDO:0002145 disorder of sexual differentiation semapv:ManualMappingCuration +NANDO:2100142 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2100144 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2100147 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2100148 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 multiple endocrine neoplasia semapv:ManualMappingCuration +NANDO:2100149 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2100151 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100152 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100154 Relapsing Polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2100156 Autoinflammatory disease skos:exactMatch MONDO:0019751 autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2100157 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100158 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100159 Inborn errors of metabolism skos:exactMatch MONDO:0019052 inborn errors of metabolism semapv:ManualMappingCuration +NANDO:2100160 Disorder of amino acid metabolism skos:exactMatch MONDO:0037871 amino acid metabolism disease semapv:ManualMappingCuration +NANDO:2100161 Disorder of organic acid metabolism skos:exactMatch MONDO:0045022 disorder of organic acid metabolism semapv:ManualMappingCuration +NANDO:2100162 Disorder of fatty-acid metabolism skos:exactMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0037792 carbohydrate metabolism disease semapv:ManualMappingCuration +NANDO:2100165 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:2100166 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:2100172 Connective tissue disorder skos:exactMatch MONDO:0003900 connective tissue disorder semapv:ManualMappingCuration +NANDO:2100174 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2100175 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:2100176 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2100177 Pure red cell aplasia skos:exactMatch MONDO:0001705 pure red-cell aplasia semapv:ManualMappingCuration +NANDO:2100178 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2100179 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2100180 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2100181 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2100183 Hereditary hemolytic anemia skos:exactMatch MONDO:0003689 familial hemolytic anemia semapv:ManualMappingCuration +NANDO:2100186 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2100187 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2100188 Thrombocytopenic purpura skos:exactMatch MONDO:0043768 thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100189 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100192 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2100193 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2100194 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2100197 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2100198 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2100200 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2100201 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2100202 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0015131 combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0021094 immunodeficiency disease semapv:ManualMappingCuration +NANDO:2100212 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2100213 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2100214 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2100216 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2100217 Brain malformation skos:exactMatch MONDO:0016054 cerebral malformation semapv:ManualMappingCuration +NANDO:2100218 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2100219 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2100220 Neurocutaneous syndrome skos:exactMatch MONDO:0042983 neurocutaneous syndrome semapv:ManualMappingCuration +NANDO:2100221 Progeroid syndromes skos:exactMatch MONDO:0015333 progeroid syndrome semapv:ManualMappingCuration +NANDO:2100223 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2100224 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2100226 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2100227 Craniosynostosis skos:exactMatch MONDO:0015469 craniosynostosis semapv:ManualMappingCuration +NANDO:2100228 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2100229 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0019079 proximal spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100233 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:2100234 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:2100235 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2100237 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:2100238 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2100239 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2100240 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2100241 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:ManualMappingCuration +NANDO:2100242 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2100244 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2100245 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2100246 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2100248 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2100250 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2100252 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2100255 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2100256 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2100257 Polyposis skos:exactMatch MONDO:0000147 polyposis semapv:ManualMappingCuration +NANDO:2100258 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2100259 Inflammatory bowel disease skos:exactMatch MONDO:0005265 inflammatory bowel disease semapv:ManualMappingCuration +NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2100264 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100267 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2100268 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2100272 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2100274 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2100279 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100280 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100281 Skin disease skos:exactMatch MONDO:0005093 skin disorder semapv:ManualMappingCuration +NANDO:2100283 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:2100284 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2100285 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2100286 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2100287 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2100290 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2100291 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100293 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100294 Vascular disease skos:exactMatch MONDO:0005385 vascular disorder semapv:ManualMappingCuration +NANDO:2100295 Vascular malformation skos:exactMatch MONDO:0024291 vascular malformation semapv:ManualMappingCuration +NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2100297 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:exactMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200003 T-cell lymphoblastic leukemia skos:exactMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:exactMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:ManualMappingCuration +NANDO:2200005 Acute myeloid leukemia without maturation skos:exactMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:ManualMappingCuration +NANDO:2200006 Acute myeloid leukemia with maturation skos:exactMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:ManualMappingCuration +NANDO:2200007 Acute promyelocytic leukemia skos:exactMatch MONDO:0012883 acute promyelocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200010 Acute erythremia skos:exactMatch MONDO:0017858 acute erythroid leukemia semapv:ManualMappingCuration +NANDO:2200011 Acute megakaryoblastic leukemia skos:exactMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:ManualMappingCuration +NANDO:2200012 NK cell leukemia skos:exactMatch MONDO:0019470 aggressive NK-cell leukemia semapv:ManualMappingCuration +NANDO:2200013 Chronic myeloid leukemia skos:exactMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200015 Juvenile myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0020321 acute undifferentiated leukemia semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0020743 mixed phenotype acute leukemia semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200020 Mature B-cell lymphoma skos:exactMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:2200021 Anaplastic large cell lymphoma skos:exactMatch MONDO:0020325 anaplastic large cell lymphoma semapv:ManualMappingCuration +NANDO:2200022 Precursor B lymphoblastic lymphoma skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200023 Precursor T lymphoblastic lymphoma skos:exactMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:ManualMappingCuration +NANDO:2200024 Hodgkin lymphoma skos:exactMatch MONDO:0004952 Hodgkins lymphoma semapv:ManualMappingCuration +NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:exactMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:ManualMappingCuration +NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:exactMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:ManualMappingCuration +NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:exactMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:exactMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0018310 Langerhans cell histiocytosis semapv:ManualMappingCuration +NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:exactMatch MONDO:0015540 hemophagocytic syndrome semapv:ManualMappingCuration +NANDO:2200034 Follicular dendritic cell sarcoma skos:exactMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200035 Interdigitating dendritic cell sarcoma skos:exactMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200036 Langerhans cell sarcoma skos:exactMatch MONDO:0019480 Langerhans cell sarcoma semapv:ManualMappingCuration +NANDO:2200037 Juvenile xanthogranuloma skos:exactMatch MONDO:0015534 juvenile xanthogranuloma semapv:ManualMappingCuration +NANDO:2200038 Erdheim-Chester disease skos:exactMatch MONDO:0018153 Erdheim-Chester disease semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:ManualMappingCuration +NANDO:2200040 Neuroblastoma skos:exactMatch MONDO:0005072 neuroblastoma semapv:ManualMappingCuration +NANDO:2200041 Ganglioneuroblastoma skos:exactMatch MONDO:0005035 ganglioneuroblastoma semapv:ManualMappingCuration +NANDO:2200042 Retinoblastoma skos:exactMatch MONDO:0008380 retinoblastoma semapv:ManualMappingCuration +NANDO:2200043 Wilms tumour skos:exactMatch MONDO:0019004 kidney Wilms tumor semapv:ManualMappingCuration +NANDO:2200044 Clear cell sarcoma of the kidney skos:exactMatch MONDO:0005006 clear cell sarcoma of kidney semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005086 renal cell carcinoma semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005549 renal cell adenocarcinoma semapv:ManualMappingCuration +NANDO:2200046 Hepatoblastoma skos:exactMatch MONDO:0018666 hepatoblastoma semapv:ManualMappingCuration +NANDO:2200047 Hepatocellular carcinoma skos:exactMatch MONDO:0007256 hepatocellular carcinoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0002623 pediatric osteosarcoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0009807 osteosarcoma semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2200050 Chondrosarcoma skos:exactMatch MONDO:0008977 chondrosarcoma semapv:ManualMappingCuration +NANDO:2200051 Chondroblastoma skos:exactMatch MONDO:0004997 chondroblastoma semapv:ManualMappingCuration +NANDO:2200052 Malignancy in giant cell tumour of bone skos:exactMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:ManualMappingCuration +NANDO:2200053 Ewing's sarcoma skos:exactMatch MONDO:0012817 Ewing sarcoma semapv:ManualMappingCuration +NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200056 Rhabdomyosarcoma skos:exactMatch MONDO:0005212 rhabdomyosarcoma semapv:ManualMappingCuration +NANDO:2200057 Malignant rhabdoid tumour skos:exactMatch MONDO:0002728 rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200058 Undifferentiated sarcoma skos:exactMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:ManualMappingCuration +NANDO:2200059 Desmoplastic small round cell tumors skos:exactMatch MONDO:0019373 desmoplastic small round cell tumor semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002676 adult fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002678 pediatric fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0005164 fibrosarcoma semapv:ManualMappingCuration +NANDO:2200061 Synovial sarcoma skos:exactMatch MONDO:0010434 synovial sarcoma semapv:ManualMappingCuration +NANDO:2200062 Clear cell sarcoma skos:exactMatch MONDO:0002926 clear cell sarcoma semapv:ManualMappingCuration +NANDO:2200063 Alveolar soft part sarcoma skos:exactMatch MONDO:0011655 alveolar soft part sarcoma semapv:ManualMappingCuration +NANDO:2200064 Leiomyosarcoma skos:exactMatch MONDO:0005058 leiomyosarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003585 adult liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003587 pediatric liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0005060 liposarcoma semapv:ManualMappingCuration +NANDO:2200066 Dysgerminoma skos:exactMatch MONDO:0003002 dysgerminoma semapv:ManualMappingCuration +NANDO:2200067 Embryonal carcinoma skos:exactMatch MONDO:0005440 embryonal carcinoma semapv:ManualMappingCuration +NANDO:2200068 Polyembryoma skos:exactMatch MONDO:0015863 polyembryoma semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0005744 yolk sac tumor semapv:ManualMappingCuration +NANDO:2200070 Choriocarcinoma skos:exactMatch MONDO:0005207 choriocarcinoma semapv:ManualMappingCuration +NANDO:2200071 Mixed germ cell tumour skos:exactMatch MONDO:0015864 mixed germ cell tumor semapv:ManualMappingCuration +NANDO:2200072 Sex-cord stromal tumour skos:exactMatch MONDO:0006055 sex cord-stromal tumor semapv:ManualMappingCuration +NANDO:2200073 Adrenocortical carcinoma skos:exactMatch MONDO:0006639 adrenal cortex carcinoma semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0002108 thyroid cancer semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0015075 thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2200076 Salivary grand carcinoma skos:exactMatch MONDO:0000521 salivary gland carcinoma semapv:ManualMappingCuration +NANDO:2200077 Malignant melanoma skos:exactMatch MONDO:0005105 melanoma semapv:ManualMappingCuration +NANDO:2200078 Pheochromocytoma skos:exactMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:ManualMappingCuration +NANDO:2200079 Malignant thymoma skos:exactMatch MONDO:0006451 thymic carcinoma semapv:ManualMappingCuration +NANDO:2200080 Pleuropulmonaryblastoma skos:exactMatch MONDO:0011014 pleuropulmonary blastoma semapv:ManualMappingCuration +NANDO:2200081 Bronchial tumour skos:exactMatch MONDO:0002807 bronchial neoplasm semapv:ManualMappingCuration +NANDO:2200082 Pancreatoblastoma skos:exactMatch MONDO:0019035 pancreatoblastoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0016691 pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200085 Diffuse astrocytoma skos:exactMatch MONDO:0016686 diffuse astrocytoma semapv:ManualMappingCuration +NANDO:2200086 Anaplastic astrocytoma skos:exactMatch MONDO:0016684 anaplastic astrocytoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0018177 glioblastoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0020690 adult glioblastoma semapv:ManualMappingCuration +NANDO:2200088 Ependymoma skos:exactMatch MONDO:0016698 ependymoma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002540 childhood oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002543 adult oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0016695 oligodendroglioma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002794 adult medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002797 childhood medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0007959 medulloblastoma semapv:ManualMappingCuration +NANDO:2200091 Craniopharyngioma skos:exactMatch MONDO:0018907 craniopharyngioma semapv:ManualMappingCuration +NANDO:2200092 Pineocytoma skos:exactMatch MONDO:0016723 pineocytoma semapv:ManualMappingCuration +NANDO:2200093 Choroid plexus papilloma skos:exactMatch MONDO:0009837 choroid plexus papilloma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:exactMatch MONDO:0003057 pediatric meningioma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:exactMatch MONDO:0016642 meningioma semapv:ManualMappingCuration +NANDO:2200095 Pituitary adenoma skos:exactMatch MONDO:0006373 pituitary gland adenoma semapv:ManualMappingCuration +NANDO:2200096 Ganglioglioma skos:exactMatch MONDO:0016733 ganglioglioma semapv:ManualMappingCuration +NANDO:2200097 Gangliocytoma skos:exactMatch MONDO:0016730 gangliocytoma semapv:ManualMappingCuration +NANDO:2200098 Chordoma skos:exactMatch MONDO:0008978 chordoma semapv:ManualMappingCuration +NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:exactMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200102 Malignant neurinoma skos:exactMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:ManualMappingCuration +NANDO:2200103 Neurinoma skos:exactMatch MONDO:0002546 schwannoma semapv:ManualMappingCuration +NANDO:2200104 Teratoma of the central nervous system skos:exactMatch MONDO:0002718 central nervous system teratoma semapv:ManualMappingCuration +NANDO:2200105 Mature teratoma skos:exactMatch MONDO:0003517 mature teratoma semapv:ManualMappingCuration +NANDO:2200106 Immature teratoma skos:exactMatch MONDO:0024746 immature teratoma semapv:ManualMappingCuration +NANDO:2200107 Teratoma with malignant transformation skos:exactMatch MONDO:0006444 teratoma with malignant transformation semapv:ManualMappingCuration +NANDO:2200108 Intracranial germ cell tumour skos:exactMatch MONDO:0004218 childhood germ cell brain tumor semapv:ManualMappingCuration +NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:exactMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:ManualMappingCuration +NANDO:2200112 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:2200113 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:2200114 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:2200116 Denys-Drash syndrome skos:exactMatch MONDO:0008682 Denys-Drash syndrome semapv:ManualMappingCuration +NANDO:2200117 Pierson syndrome skos:exactMatch MONDO:0012184 Pierson syndrome semapv:ManualMappingCuration +NANDO:2200118 Central nervous system malformation syndrome skos:exactMatch MONDO:0020022 central nervous system malformation semapv:ManualMappingCuration +NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2200120 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:2200121 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:2200122 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200125 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:2200126 Alport syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:2200127 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200128 Lupus nephritis skos:exactMatch MONDO:0005556 lupus nephritis semapv:ManualMappingCuration +NANDO:2200131 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200132 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:exactMatch MONDO:0007671 fibronectin glomerulopathy semapv:ManualMappingCuration +NANDO:2200134 Lipoprotein glomerulopathy skos:exactMatch MONDO:0012725 lipoprotein glomerulopathy semapv:ManualMappingCuration +NANDO:2200136 Tubulointerstitial nephritis skos:exactMatch MONDO:0001085 interstitial nephritis semapv:ManualMappingCuration +NANDO:2200137 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0019065 amyloidosis semapv:ManualMappingCuration +NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2200144 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2200145 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2200146 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2200152 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200153 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200154 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200155 Hypoplastic kidney skos:exactMatch MONDO:0019637 renal hypoplasia semapv:ManualMappingCuration +NANDO:2200156 Renal aplasia skos:exactMatch MONDO:0018470 renal agenesis semapv:ManualMappingCuration +NANDO:2200157 Potter syndrome skos:exactMatch MONDO:0001558 Potter sequence semapv:ManualMappingCuration +NANDO:2200158 Multicystic dysplastic kidney skos:exactMatch MONDO:0015988 multicystic dysplastic kidney semapv:ManualMappingCuration +NANDO:2200159 Oligomeganephronia skos:exactMatch MONDO:0016407 oligomeganephronia semapv:ManualMappingCuration +NANDO:2200161 Renal dysplasia skos:exactMatch MONDO:0019638 renal dysplasia semapv:ManualMappingCuration +NANDO:2200170 Medullary cystic kidney skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200171 Multilocular cysts of the kidney skos:exactMatch MONDO:0019983 multiloculated renal cyst semapv:ManualMappingCuration +NANDO:2200172 Simple renal cyst skos:exactMatch MONDO:0002473 cystic kidney disease semapv:ManualMappingCuration +NANDO:2200173 Medullary sponge kidney skos:exactMatch MONDO:0015268 medullary sponge kidney semapv:ManualMappingCuration +NANDO:2200176 Ureteropelvic junction obstruction skos:exactMatch MONDO:0007741 congenital hydronephrosis semapv:ManualMappingCuration +NANDO:2200177 Megacalycosis skos:exactMatch MONDO:0019639 congenital megacalycosis semapv:ManualMappingCuration +NANDO:2200178 Obstructive uropathy skos:exactMatch MONDO:0003330 urinary tract obstruction semapv:ManualMappingCuration +NANDO:2200179 Vesicoureteral reflux skos:exactMatch MONDO:0006007 vesicoureteral reflux semapv:ManualMappingCuration +NANDO:2200183 Ureteroceles skos:exactMatch MONDO:0008628 ureterocele semapv:ManualMappingCuration +NANDO:2200184 Megaureter skos:exactMatch MONDO:0018960 congenital primary megaureter semapv:ManualMappingCuration +NANDO:2200185 Prune belly syndrome skos:exactMatch MONDO:0007032 prune belly syndrome semapv:ManualMappingCuration +NANDO:2200187 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2200188 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:2200194 Tracheal stenosis skos:exactMatch MONDO:0002568 tracheal stenosis semapv:ManualMappingCuration +NANDO:2200195 Tracheomalacia skos:exactMatch MONDO:0019804 tracheomalacia semapv:ManualMappingCuration +NANDO:2200198 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2200199 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:2200200 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:2200202 Pulmonary alveolar microlithiasis skos:exactMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:ManualMappingCuration +NANDO:2200203 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200204 Kartagener syndrome skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200205 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2200206 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2200209 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2200210 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2200212 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2200213 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0000468 third-degree atrioventricular block semapv:ManualMappingCuration +NANDO:2200215 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2200216 Polymorphic ventricular premature beat skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:exactMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005479 atrial tachycardia semapv:ManualMappingCuration +NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200225 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200226 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2200227 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0019171 familial long QT syndrome semapv:ManualMappingCuration +NANDO:2200229 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2200231 Non-compaction of the ventricle skos:exactMatch MONDO:0018901 left ventricular noncompaction semapv:ManualMappingCuration +NANDO:2200232 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2200233 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0006779 heart aneurysm semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0015677 cardiac diverticulum semapv:ManualMappingCuration +NANDO:2200235 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2200236 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2200239 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:exactMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:ManualMappingCuration +NANDO:2200246 Stenosis or atresia of coronary artery skos:exactMatch MONDO:0006715 coronary stenosis semapv:ManualMappingCuration +NANDO:2200248 Myocardial infarction skos:exactMatch MONDO:0005068 myocardial infarction semapv:ManualMappingCuration +NANDO:2200249 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2200250 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:2200251 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:2200254 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2200256 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2200257 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2200258 Complete transposition of the great arteries skos:exactMatch MONDO:0000153 transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200259 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200260 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2200262 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2200263 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2200264 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020439 patent foramen ovale semapv:ManualMappingCuration +NANDO:2200267 Atrial septal defect, sinus venosus type skos:exactMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:ManualMappingCuration +NANDO:2200268 Incomplete atrioventricular septal defect skos:exactMatch MONDO:0015275 partial atrioventricular canal semapv:ManualMappingCuration +NANDO:2200269 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2200270 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2200271 Total anomalous pulmonary venous connection skos:exactMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200272 Partial anomalous pulmonary venous connection skos:exactMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200273 Pulmonary venous obstruction skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:2200274 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2200275 Double-chambered right ventricle skos:exactMatch MONDO:0016581 conotruncal heart malformations semapv:ManualMappingCuration +NANDO:2200276 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2200277 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200278 Supravalvular pulmonary stenosis skos:exactMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:ManualMappingCuration +NANDO:2200280 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:exactMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:ManualMappingCuration +NANDO:2200282 Unilateral absence of a pulmonary artery skos:exactMatch MONDO:0020007 absence of the pulmonary artery semapv:ManualMappingCuration +NANDO:2200283 Coarctation of the aorta skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200285 Supravalvular aortic stenosis skos:exactMatch MONDO:0008504 supravalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200286 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:2200288 Interruption of aortic arch complex skos:exactMatch MONDO:0009010 aortic arch interruption semapv:ManualMappingCuration +NANDO:2200290 Double aortic arch disease skos:exactMatch MONDO:0020413 encircling double aortic arch semapv:ManualMappingCuration +NANDO:2200293 Aneurysm of sinus valsalva skos:exactMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:ManualMappingCuration +NANDO:2200294 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2200295 Pulmonary arteriovenous fistulae skos:exactMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:ManualMappingCuration +NANDO:2200296 Coronary artery fistula skos:exactMatch MONDO:0016081 coronary arterial fistulas semapv:ManualMappingCuration +NANDO:2200298 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2200299 Chronic cor pulmonale skos:exactMatch MONDO:0001493 chronic pulmonary heart disease semapv:ManualMappingCuration +NANDO:2200300 Tricuspid valve stenosis skos:exactMatch MONDO:0005997 tricuspid valve stenosis semapv:ManualMappingCuration +NANDO:2200301 Tricuspid valve regurgitation skos:exactMatch MONDO:0002870 tricuspid valve insufficiency semapv:ManualMappingCuration +NANDO:2200302 Mitral valve stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:2200303 Mitral regurgitation skos:exactMatch MONDO:0001298 congenital mitral valve insufficiency semapv:ManualMappingCuration +NANDO:2200304 Pulmonary valve stenosis skos:exactMatch MONDO:0006936 pulmonary valve stenosis semapv:ManualMappingCuration +NANDO:2200305 Pulmonary valve regurgitation skos:exactMatch MONDO:0001927 pulmonary valve insufficiency semapv:ManualMappingCuration +NANDO:2200306 Aortic valve stenosis skos:exactMatch MONDO:0042981 aortic valve stenosis semapv:ManualMappingCuration +NANDO:2200307 Aortic valve regurgitation skos:exactMatch MONDO:0005648 aortic valve insufficiency semapv:ManualMappingCuration +NANDO:2200308 Supramitral ring skos:exactMatch MONDO:0020400 congenital supravalvular mitral ring semapv:ManualMappingCuration +NANDO:2200312 Congenital hypopituitarism skos:exactMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200313 Acquired hypopituitarism skos:exactMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200314 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2200315 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2200317 Congenital growth hormone deficiency skos:exactMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:ManualMappingCuration +NANDO:2200320 IGF1 insensitivity skos:exactMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:ManualMappingCuration +NANDO:2200321 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200322 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2200324 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:2200325 Adipsic hypernatremia skos:exactMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:ManualMappingCuration +NANDO:2200326 Nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:2200328 Basedow disease skos:exactMatch MONDO:0005364 Graves disease semapv:ManualMappingCuration +NANDO:2200329 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2200330 Ectoic thyroid skos:exactMatch MONDO:0019854 thyroid ectopia semapv:ManualMappingCuration +NANDO:2200331 Thyroid agenesis skos:exactMatch MONDO:0019855 athyreosis semapv:ManualMappingCuration +NANDO:2200332 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200333 Congenital hypothyroidism skos:exactMatch MONDO:0018612 congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200335 Hashimoto disease skos:exactMatch MONDO:0007699 Hashimoto thyroiditis semapv:ManualMappingCuration +NANDO:2200336 Atrophic thyroiditis skos:exactMatch MONDO:0005624 atrophic thyroiditis semapv:ManualMappingCuration +NANDO:2200340 Central hypothyroidism skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2200343 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:exactMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:ManualMappingCuration +NANDO:2200348 Pseudopseudohypoparathyroidism skos:exactMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200349 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200350 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:2200351 Ectopic ACTH syndrome skos:exactMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:ManualMappingCuration +NANDO:2200352 Adrenal adenoma skos:exactMatch MONDO:0003924 adrenal cortex adenoma semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200358 Glucocorticoid resistance skos:exactMatch MONDO:0014421 glucocorticoid resistance semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200361 Aldosteronism skos:exactMatch MONDO:0001422 primary aldosteronism semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2200363 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2200365 Aldosterone synthase deficiency skos:exactMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200367 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2200368 Pseudohypoaldosteronism type I skos:exactMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200369 Pseudohypoaldosteronism type II skos:exactMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:ManualMappingCuration +NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200372 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200373 17 alpha-hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200375 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:2200377 Gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0015791 peripheral precocious puberty semapv:ManualMappingCuration +NANDO:2200379 Hyperestrogenism skos:exactMatch MONDO:0001946 obsolete hyperestrogenism semapv:ManualMappingCuration +NANDO:2200380 Hyperandrogenism skos:exactMatch MONDO:0001324 obsolete hyperandrogenism semapv:ManualMappingCuration +NANDO:2200381 Kallmann syndrome skos:exactMatch MONDO:0018800 Kallmann syndrome semapv:ManualMappingCuration +NANDO:2200382 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2200383 Testicular dysgenesis skos:exactMatch MONDO:0005437 testicular dysgenesis syndrome semapv:ManualMappingCuration +NANDO:2200386 Klinefelter syndrome skos:exactMatch MONDO:0006823 Klinefelter syndrome semapv:ManualMappingCuration +NANDO:2200387 Ovotesticular dsd skos:exactMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0001969 mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:ManualMappingCuration +NANDO:2200391 Androgen insensitivity syndrome skos:exactMatch MONDO:0019154 androgen insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020040 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200394 Vipoma skos:exactMatch MONDO:0019960 VIPoma semapv:ManualMappingCuration +NANDO:2200395 Gastrinoma skos:exactMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0005369 carcinoid tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0006689 obsolete carcinoid syndrome semapv:ManualMappingCuration +NANDO:2200397 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2200398 Insulinoma skos:exactMatch MONDO:0024677 pancreatic insulinoma semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2200401 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2200402 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200403 Primary hypophosphatemic rickets skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200404 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2200405 Multiple endocrine neoplasia type 1 skos:exactMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:ManualMappingCuration +NANDO:2200408 Von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200409 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2200410 Turner syndrome skos:exactMatch MONDO:0019499 Turner syndrome semapv:ManualMappingCuration +NANDO:2200411 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:2200412 McCune-Albright syndrome skos:exactMatch MONDO:0018919 McCune-Albright syndrome semapv:ManualMappingCuration +NANDO:2200413 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:2200414 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 Bardet-Biedl syndrome semapv:ManualMappingCuration +NANDO:2200415 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2200416 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:2200418 Juvenile dermatomyositis skos:exactMatch MONDO:0008054 juvenile dermatomyositis semapv:ManualMappingCuration +NANDO:2200419 Juvenile polymyositis skos:exactMatch MONDO:0019734 juvenile polymyositis semapv:ManualMappingCuration +NANDO:2200420 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:2200421 Anti-phospholipid antibody syndrome skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:2200422 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:2200424 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200426 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200428 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2200429 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:2200430 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:2200431 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:2200432 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:2200435 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0017708 mevalonate kinase deficiency semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0004471 bacterial arthritis semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0018824 pyoderma gangrenosum semapv:ManualMappingCuration +NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:exactMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:ManualMappingCuration +NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200443 CARD14 deficiency skos:exactMatch MONDO:0011269 psoriasis 2 semapv:ManualMappingCuration +NANDO:2200444 Cherubism skos:exactMatch MONDO:0007315 cherubism semapv:ManualMappingCuration +NANDO:2200446 IL10 deficiency skos:exactMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:ManualMappingCuration +NANDO:2200447 IL-10RA deficiency skos:exactMatch MONDO:0013153 inflammatory bowel disease 28 semapv:ManualMappingCuration +NANDO:2200448 IL-10RB deficiency skos:exactMatch MONDO:0012941 inflammatory bowel disease 25 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200451 PLCg2 deficiency skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200452 IL36RN deficiency skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:2200453 Majeed syndrome skos:exactMatch MONDO:0012316 Majeed syndrome semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:ManualMappingCuration +NANDO:2200456 RBCK1 deficiency skos:exactMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:ManualMappingCuration +NANDO:2200457 SLC29A3 deficiency skos:exactMatch MONDO:0011273 H syndrome semapv:ManualMappingCuration +NANDO:2200458 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:2200460 Diabetes mellitus type 1 skos:exactMatch MONDO:0005147 type 1 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0005148 type 2 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2200462 Maturity-onset diabetes of the young skos:exactMatch MONDO:0018911 maturity-onset diabetes of the young semapv:ManualMappingCuration +NANDO:2200463 Neonatal diabetes mellitus skos:exactMatch MONDO:0016391 neonatal diabetes mellitus semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0005827 lipoatrophic diabetes semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:2200467 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2200468 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:2200469 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:2200470 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:2200471 Hyperprolinemia skos:exactMatch MONDO:0023419 hyperprolinemia semapv:ManualMappingCuration +NANDO:2200472 Prolidase deficiency skos:exactMatch MONDO:0008221 prolidase deficiency semapv:ManualMappingCuration +NANDO:2200473 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:2200474 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:2200475 Hypermethioninemia skos:exactMatch MONDO:0000351 disorder of methionine catabolism semapv:ManualMappingCuration +NANDO:2200476 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:2200477 N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:2200479 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200480 Argininosuccinate synthetase deficiency skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:2200481 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:2200482 Hyperargininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:2200483 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:2200484 Hyperornithinemia skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch MONDO:0009393 ornithine translocase deficiency semapv:ManualMappingCuration +NANDO:2200486 Gyrate atrophy of choroid and retina skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200487 Hartnup disease skos:exactMatch MONDO:0009324 Hartnup disease semapv:ManualMappingCuration +NANDO:2200488 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:2200489 Cystinuria skos:exactMatch MONDO:0009067 cystinuria semapv:ManualMappingCuration +NANDO:2200491 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:2200492 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:2200493 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:2200494 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200496 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:ManualMappingCuration +NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:ManualMappingCuration +NANDO:2200500 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200501 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200502 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200503 Primary hyperoxaluria skos:exactMatch MONDO:0002474 primary hyperoxaluria semapv:ManualMappingCuration +NANDO:2200504 Alkaptonuria skos:exactMatch MONDO:0008753 alkaptonuria semapv:ManualMappingCuration +NANDO:2200505 Glycerol kinase deficiency skos:exactMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:ManualMappingCuration +NANDO:2200506 Inborn errors of bile acid metabolism skos:exactMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:ManualMappingCuration +NANDO:2200508 Organic cation transporter 2 deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200515 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200519 Pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:ManualMappingCuration +NANDO:2200520 Fumarase deficiency skos:exactMatch MONDO:0011730 fumaric aciduria semapv:ManualMappingCuration +NANDO:2200522 Mitochondrial respiratory chain disorders skos:exactMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:ManualMappingCuration +NANDO:2200523 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:exactMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:ManualMappingCuration +NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:2200527 Leigh syndrome skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200529 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:2200531 Hereditary fructose intolerance skos:exactMatch MONDO:0009249 hereditary fructose intolerance semapv:ManualMappingCuration +NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:2200533 Galactokinase deficiency skos:exactMatch MONDO:0009255 galactokinase deficiency semapv:ManualMappingCuration +NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:exactMatch MONDO:0009257 galactose epimerase deficiency semapv:ManualMappingCuration +NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:exactMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:ManualMappingCuration +NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:ManualMappingCuration +NANDO:2200537 Glycogen synthase deficiency skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2200538 Glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:2200539 Glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:2200540 Glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:2200541 Glycogen storage disease type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:2200542 Glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:2200543 Glycogen storage disease type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:2200544 Glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:2200545 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:2200547 Mucopolysaccharidosis type I skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2200548 Mucopolysaccharidosis type II skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:2200549 Mucopolysaccharidosis type III skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:2200550 Mucopolysaccharidosis type IV skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:2200551 Mucopolysaccharidosis type VI skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:2200552 Mucopolysaccharidosis type VII skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:2200553 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:2200555 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:2200556 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:2200557 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:2200558 GM1 Gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:2200559 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:2200560 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:2200561 Niemann-Pick disease skos:exactMatch MONDO:0001982 Niemann-Pick disease semapv:ManualMappingCuration +NANDO:2200562 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:2200563 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:2200564 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:2200565 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:2200566 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:2200567 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:2200568 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:2200569 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:2200570 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2200571 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:2200572 Free Sialic Acid Storage Disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:2200573 Neuronal ceroid lipofuscinoses skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2200575 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:2200576 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:2200577 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:2200579 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:2200580 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:2200581 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:2200582 Aceruloplasminemia skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:2200583 Sulfite oxidase deficiency skos:exactMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:ManualMappingCuration +NANDO:2200584 Acrodermatitis enteropathica skos:exactMatch MONDO:0008713 acrodermatitis enteropathica semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:exactMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200588 Xanthinuria skos:exactMatch MONDO:0000721 xanthinuria semapv:ManualMappingCuration +NANDO:2200590 Orotic aciduria skos:exactMatch MONDO:0009797 orotic aciduria semapv:ManualMappingCuration +NANDO:2200592 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:2200594 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2200595 Tyrosine hydroxylase deficiency skos:exactMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:2200597 Dopamine beta hydroxylase deficiency skos:exactMatch MONDO:0009123 orthostatic hypotension 1 semapv:ManualMappingCuration +NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:exactMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:ManualMappingCuration +NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0005439 familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0016525 familial hyperaldosteronism semapv:ManualMappingCuration +NANDO:2200604 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0017773 hypoalphalipoproteinemia semapv:ManualMappingCuration +NANDO:2200607 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2200608 Lipoid proteinosis skos:exactMatch MONDO:0009530 lipoid proteinosis semapv:ManualMappingCuration +NANDO:2200611 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2200612 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2200614 Congenital red cell aplasia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:2200615 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2200616 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2200617 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2200618 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:2200619 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2200622 Hereditary spherocytosis skos:exactMatch MONDO:0019350 hereditary spherocytosis semapv:ManualMappingCuration +NANDO:2200623 Hereditary stomatocytosis skos:exactMatch MONDO:0020102 hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200624 Sickle cell disease skos:exactMatch MONDO:0011382 sickle cell anemia semapv:ManualMappingCuration +NANDO:2200625 Unstable hemoglobin disease skos:exactMatch MONDO:0020459 unstable hemoglobin disease semapv:ManualMappingCuration +NANDO:2200626 Thalassemia skos:exactMatch MONDO:0000984 thalassemia semapv:ManualMappingCuration +NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:exactMatch MONDO:0005775 G6PD deficiency semapv:ManualMappingCuration +NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:ManualMappingCuration +NANDO:2200630 Hereditary elliptocytosis skos:exactMatch MONDO:0017319 hereditary elliptocytosis semapv:ManualMappingCuration +NANDO:2200631 Hereditary pyropoikilocytosis skos:exactMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:ManualMappingCuration +NANDO:2200633 Stomatocytic xerocytosis skos:exactMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:exactMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:ManualMappingCuration +NANDO:2200635 Hemoglobin C disease skos:exactMatch MONDO:0016242 hemoglobin C disease semapv:ManualMappingCuration +NANDO:2200636 Hemolytic anemia skos:exactMatch MONDO:0003664 hemolytic anemia semapv:ManualMappingCuration +NANDO:2200637 Hypersplenism skos:exactMatch MONDO:0006795 hypersplenism semapv:ManualMappingCuration +NANDO:2200639 Disseminated intravascular coagulation skos:exactMatch MONDO:0001243 disseminated intravascular coagulation semapv:ManualMappingCuration +NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:exactMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:ManualMappingCuration +NANDO:2200641 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200643 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2200644 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2200645 Immune thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:exactMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:ManualMappingCuration +NANDO:2200648 Heparin-induced thrombocytopenia skos:exactMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:ManualMappingCuration +NANDO:2200649 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:ManualMappingCuration +NANDO:2200652 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:2200653 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2200654 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200655 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2200656 Bernard-Soulier syndrome skos:exactMatch MONDO:0009276 Bernard-Soulier syndrome semapv:ManualMappingCuration +NANDO:2200657 Thrombasthenia skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:exactMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:ManualMappingCuration +NANDO:2200661 Thrombocytopenia with absent radii skos:exactMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:ManualMappingCuration +NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:exactMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:ManualMappingCuration +NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:exactMatch MONDO:0008555 thrombocytopenia 2 semapv:ManualMappingCuration +NANDO:2200664 ITGA2B/ITGB3 mutations skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200665 ACTN1 mutations skos:exactMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:ManualMappingCuration +NANDO:2200667 β-1 tubulin disorders skos:exactMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:ManualMappingCuration +NANDO:2200668 Platelet-type von Willebrand disease skos:exactMatch MONDO:0008332 platelet-type von Willebrand disease semapv:ManualMappingCuration +NANDO:2200669 ADP receptor deficiencies skos:exactMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:ManualMappingCuration +NANDO:2200670 Abnormalities in platelet collagen receptors skos:exactMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:ManualMappingCuration +NANDO:2200671 Scott syndrome skos:exactMatch MONDO:0009885 Scott syndrome semapv:ManualMappingCuration +NANDO:2200674 Factor V deficiency skos:exactMatch MONDO:0020586 factor V deficiency semapv:ManualMappingCuration +NANDO:2200675 Factor VII deficiency skos:exactMatch MONDO:0002244 factor VII deficiency semapv:ManualMappingCuration +NANDO:2200676 Hemophilia A skos:exactMatch MONDO:0010602 hemophilia A semapv:ManualMappingCuration +NANDO:2200677 Hemophilia B skos:exactMatch MONDO:0010604 hemophilia B semapv:ManualMappingCuration +NANDO:2200678 Factor X deficiency skos:exactMatch MONDO:0002247 factor X deficiency semapv:ManualMappingCuration +NANDO:2200679 Factor XI deficiency skos:exactMatch MONDO:0020587 factor XI deficiency semapv:ManualMappingCuration +NANDO:2200680 Factor XII deficiency skos:exactMatch MONDO:0009315 congenital factor XII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0002241 factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0018029 congenital factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200682 Von Willebrand disease skos:exactMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0012901 inherited prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0044744 prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200685 High molecular weight kininogen deficiency skos:exactMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:ManualMappingCuration +NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:exactMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:ManualMappingCuration +NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:exactMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:exactMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:ManualMappingCuration +NANDO:2200689 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2200690 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2200692 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2200693 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2200694 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:2200695 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:2200696 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:2200697 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:2200699 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:2200701 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:2200702 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:2200704 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:2200705 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:2200706 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:2200707 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:2200708 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:2200710 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:2200711 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:2200713 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:2200715 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:2200716 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:2200717 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:2200718 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:2200719 Isolated IgG subclass deficiency skos:exactMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:ManualMappingCuration +NANDO:2200720 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:2200724 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:2200725 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200728 Perforin deficiency skos:exactMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:ManualMappingCuration +NANDO:2200729 UNC13D/Munc13-4 deficiency skos:exactMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:ManualMappingCuration +NANDO:2200730 Syntaxin 11 deficiency skos:exactMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:ManualMappingCuration +NANDO:2200731 STXBP2/Munc18-2 deficiency skos:exactMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:ManualMappingCuration +NANDO:2200732 Griscelli syndrome type 2 skos:exactMatch MONDO:0011872 Griscelli syndrome type 2 semapv:ManualMappingCuration +NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:exactMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:ManualMappingCuration +NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:exactMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:ManualMappingCuration +NANDO:2200735 CD27 deficiency skos:exactMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:ManualMappingCuration +NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:ManualMappingCuration +NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:ManualMappingCuration +NANDO:2200740 Caspase-8 deficiency skos:exactMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:ManualMappingCuration +NANDO:2200741 Fas-associated death domain protein deficiency skos:exactMatch MONDO:0013408 FADD-related immunodeficiency semapv:ManualMappingCuration +NANDO:2200743 PKC-δ deficiency skos:exactMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:ManualMappingCuration +NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:exactMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:ManualMappingCuration +NANDO:2200745 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200746 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:exactMatch MONDO:0011405 poikiloderma with neutropenia semapv:ManualMappingCuration +NANDO:2200750 Cohen syndrome skos:exactMatch MONDO:0008999 Cohen syndrome semapv:ManualMappingCuration +NANDO:2200751 Barth syndrome skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:2200752 P14 deficiency skos:exactMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:ManualMappingCuration +NANDO:2200753 X linked severe congenital neutropenia skos:exactMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200754 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2200755 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:2200756 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:2200757 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:2200758 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:2200762 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:2200763 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:2200764 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:2200766 HOIL-1 deficiency skos:exactMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualMappingCuration +NANDO:2200767 WHIM syndrome skos:exactMatch MONDO:0008674 obsolete WHIM syndrome semapv:ManualMappingCuration +NANDO:2200768 Epidermodysplasia verruciformis skos:exactMatch MONDO:0009176 epidermodysplasia verruciformis semapv:ManualMappingCuration +NANDO:2200770 STAT2 deficiency skos:exactMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:ManualMappingCuration +NANDO:2200771 MCM4 mutation skos:exactMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200772 Herpes simplex encephalitis skos:exactMatch MONDO:0012521 herpes simplex encephalitis semapv:ManualMappingCuration +NANDO:2200774 Trypanosomiasis skos:exactMatch MONDO:0000940 trypanosomiasis semapv:ManualMappingCuration +NANDO:2200775 Isolated congenital asplenia skos:exactMatch MONDO:0010066 familial isolated congenital asplenia semapv:ManualMappingCuration +NANDO:2200776 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:2200777 C1q deficiency skos:exactMatch MONDO:0013343 C1Q deficiency semapv:ManualMappingCuration +NANDO:2200779 C1s deficiency skos:exactMatch MONDO:0013419 complement component C1s deficiency semapv:ManualMappingCuration +NANDO:2200781 C2 deficiency skos:exactMatch MONDO:0009006 complement component 2 deficiency semapv:ManualMappingCuration +NANDO:2200782 C3 deficiency skos:exactMatch MONDO:0013417 complement component 3 deficiency semapv:ManualMappingCuration +NANDO:2200783 C5 deficiency skos:exactMatch MONDO:0012295 complement component 5 deficiency semapv:ManualMappingCuration +NANDO:2200784 C6 deficiency skos:exactMatch MONDO:0012908 complement component 6 deficiency semapv:ManualMappingCuration +NANDO:2200785 C7 deficiency skos:exactMatch MONDO:0012412 complement component 7 deficiency semapv:ManualMappingCuration +NANDO:2200787 C9 deficiency skos:exactMatch MONDO:0013445 complement component 9 deficiency semapv:ManualMappingCuration +NANDO:2200789 Properdin deficiency skos:exactMatch MONDO:0010713 properdin deficiency, X-linked semapv:ManualMappingCuration +NANDO:2200791 Factor H deficiency skos:exactMatch MONDO:0012350 complement factor H deficiency semapv:ManualMappingCuration +NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:exactMatch MONDO:0017398 3MC syndrome semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:2200797 Factor B deficiency skos:exactMatch MONDO:0014255 complement factor b deficiency semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:ManualMappingCuration +NANDO:2200803 CD46 deficiency skos:exactMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:ManualMappingCuration +NANDO:2200804 Primary CD59 deficiency skos:exactMatch MONDO:0012858 primary CD59 deficiency semapv:ManualMappingCuration +NANDO:2200805 Hyper eosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200806 Hypereosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200807 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:2200808 Chronic active EB virus infection skos:exactMatch MONDO:0009194 immunodeficiency 32B semapv:ManualMappingCuration +NANDO:2200809 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2200810 HIV infection skos:exactMatch MONDO:0005109 HIV infectious disease semapv:ManualMappingCuration +NANDO:2200812 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2200813 Meningoencephalocele skos:exactMatch MONDO:0017079 meningoencephalocele semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2200815 Spinal lipoma skos:exactMatch MONDO:0001790 spinal cord lipoma semapv:ManualMappingCuration +NANDO:2200816 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2200817 Lissencephaly skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:2200818 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:2200819 Holoprosencephaly skos:exactMatch MONDO:0016296 holoprosencephaly semapv:ManualMappingCuration +NANDO:2200820 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:2200821 Dandy-Walker syndrome skos:exactMatch MONDO:0009072 Dandy-Walker syndrome semapv:ManualMappingCuration +NANDO:2200822 Congenital hydrocephalus skos:exactMatch MONDO:0016349 congenital hydrocephalus semapv:ManualMappingCuration +NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:exactMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualMappingCuration +NANDO:2200824 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2200825 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:2200827 Neurocutaneous melanosis skos:exactMatch MONDO:0009578 neurocutaneous melanocytosis semapv:ManualMappingCuration +NANDO:2200828 Gorlin syndrome skos:exactMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:ManualMappingCuration +NANDO:2200829 von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200830 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:2200831 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:2200832 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:2200833 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:2200834 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:2200835 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:2200838 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:2200839 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2200840 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2200842 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2200843 Non-syndromic craniosynostosis skos:exactMatch MONDO:0015337 isolated craniosynostosis semapv:ManualMappingCuration +NANDO:2200844 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:2200845 Crouzon disease skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:2200847 Carpenter syndrome skos:exactMatch MONDO:0019012 Carpenter syndrome semapv:ManualMappingCuration +NANDO:2200848 Saethre-Chotzen syndrome skos:exactMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:ManualMappingCuration +NANDO:2200850 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2200851 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:exactMatch MONDO:0002327 intracranial cavernous angioma semapv:ManualMappingCuration +NANDO:2200853 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:2200856 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:2200858 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:exactMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:ManualMappingCuration +NANDO:2200862 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:2200864 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:2200865 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:2200866 LMNA-related congenital muscular dystrophy skos:exactMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:2200868 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:2200869 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:2200870 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:2200871 Multicore disease skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:2200875 Reducing body myopathy skos:exactMatch MONDO:0019948 reducing body myopathy semapv:ManualMappingCuration +NANDO:2200876 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2200877 Severe myoclonic epilepsy in infancy skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:2200878 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:2200879 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:2200880 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:2200881 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:2200882 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2200883 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200884 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2200885 Segawa syndrome skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:2200887 Infantile neuroaxonal dystrophy skos:exactMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:ManualMappingCuration +NANDO:2200888 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2200889 Congenital herpes simplex virus infection skos:exactMatch MONDO:0017381 congenital herpes simplex virus infection semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0005713 obsolete MONDO:0005713 semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0017361 congenital rubella syndrome semapv:ManualMappingCuration +NANDO:2200891 Congenital cytomegalovirus infection skos:exactMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:ManualMappingCuration +NANDO:2200892 Congenital toxoplasmosis skos:exactMatch MONDO:0005715 congenital toxoplasmosis semapv:ManualMappingCuration +NANDO:2200893 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:exactMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:ManualMappingCuration +NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:exactMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:ManualMappingCuration +NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:exactMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:ManualMappingCuration +NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:exactMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:ManualMappingCuration +NANDO:2200899 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2200900 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2200902 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2200904 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2200906 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2200907 Lactose intolerance skos:exactMatch MONDO:0009116 obsolete lactose intolerance semapv:ManualMappingCuration +NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:exactMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:ManualMappingCuration +NANDO:2200909 Glucose-galactose malabsorption skos:exactMatch MONDO:0011731 glucose-galactose malabsorption semapv:ManualMappingCuration +NANDO:2200910 Enterokinase deficiency skos:exactMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:ManualMappingCuration +NANDO:2200911 Amylase deficiency skos:exactMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:ManualMappingCuration +NANDO:2200912 Lipase deficiency skos:exactMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:ManualMappingCuration +NANDO:2200913 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2200914 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2200915 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 classic familial adenomatous polyposis semapv:ManualMappingCuration +NANDO:2200916 Juvenile polyposis skos:exactMatch MONDO:0017380 juvenile polyposis syndrome semapv:ManualMappingCuration +NANDO:2200917 Peutz-Jeghers syndrome skos:exactMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:ManualMappingCuration +NANDO:2200918 Cowden syndrome skos:exactMatch MONDO:0016063 Cowden disease semapv:ManualMappingCuration +NANDO:2200919 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2200920 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:2200921 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:2200923 Autoimmune enteropathy skos:exactMatch MONDO:0019787 autoimmune enteropathy semapv:ManualMappingCuration +NANDO:2200924 IPEX syndrome skos:exactMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualMappingCuration +NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:2200931 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:2200933 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:exactMatch MONDO:0010913 Caroli disease semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:exactMatch MONDO:0018808 Caroli syndrome semapv:ManualMappingCuration +NANDO:2200936 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2200937 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2200941 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2200942 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:2200943 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:2200944 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2200945 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200950 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200951 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200952 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:2200953 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:2200954 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:2200955 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:2200956 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:2200957 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:2200958 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:2200959 Beckwith-Wiedemann syndrome skos:exactMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:ManualMappingCuration +NANDO:2200960 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:2200961 5p- syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:2200962 4p- Syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:2200963 Trisomy 18 skos:exactMatch MONDO:0018071 trisomy 18 semapv:ManualMappingCuration +NANDO:2200964 Trisomy 13 skos:exactMatch MONDO:0018068 trisomy 13 semapv:ManualMappingCuration +NANDO:2200965 Down syndrome skos:exactMatch MONDO:0008608 Down syndrome semapv:ManualMappingCuration +NANDO:2200967 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:2200968 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:2200969 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 Loeys-Dietz syndrome semapv:ManualMappingCuration +NANDO:2200970 Camurati-Engelmann disease skos:exactMatch MONDO:0007542 Camurati-Engelmann disease semapv:ManualMappingCuration +NANDO:2200971 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:2200972 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:2200973 Hallermann-Streiff syndrome skos:exactMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:ManualMappingCuration +NANDO:2200974 Incontinentia pigmenti skos:exactMatch MONDO:0010631 incontinentia pigmenti semapv:ManualMappingCuration +NANDO:2200975 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:2200977 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:exactMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:ManualMappingCuration +NANDO:2200979 Smith-Lemli-Opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:2200980 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:2200981 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:2200982 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:2200983 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:2200984 MECP2 duplication syndrome skos:exactMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:ManualMappingCuration +NANDO:2200985 Takenouchi-Kosaki syndrome skos:exactMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:ManualMappingCuration +NANDO:2200986 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:2200987 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200990 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200991 Autosomal recessive congenital ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:2200992 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:2200993 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:2200994 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:2200998 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:exactMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:ManualMappingCuration +NANDO:2201000 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201001 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2201002 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2201005 Anhidrotic ectodermal dysplasia skos:exactMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:ManualMappingCuration +NANDO:2201006 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2201007 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:2201008 Thoracic insufficiency syndrome skos:exactMatch MONDO:0015929 thoracic malformation semapv:ManualMappingCuration +NANDO:2201009 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:2201010 Hypochondroplasia skos:exactMatch MONDO:0007793 hypochondroplasia semapv:ManualMappingCuration +NANDO:2201011 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:2201012 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:2201013 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:2201014 Multiple cartilaginous exostosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0016068 fibrochondrogenesis semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0022800 type 2 collagenopathy semapv:ManualMappingCuration +NANDO:2201017 Chondrodysplasia punctata skos:exactMatch MONDO:0019701 chondrodysplasia punctata semapv:ManualMappingCuration +NANDO:2201018 Pseudoachondroplasia skos:exactMatch MONDO:0008322 pseudoachondroplasia semapv:ManualMappingCuration +NANDO:2201019 Larsen syndrome skos:exactMatch MONDO:0007875 Larsen syndrome semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:exactMatch MONDO:0018240 TRPV4-related bone disorder semapv:ManualMappingCuration +NANDO:2201022 Osteosclerotic diseases skos:exactMatch MONDO:0002933 osteosclerosis semapv:ManualMappingCuration +NANDO:2201023 Pycnodysostosis skos:exactMatch MONDO:0009940 pycnodysostosis semapv:ManualMappingCuration +NANDO:2201024 Osteopoikilosis skos:exactMatch MONDO:0001414 osteopoikilosis semapv:ManualMappingCuration +NANDO:2201026 Beals syndrome skos:exactMatch MONDO:0007363 congenital contractural arachnodactyly semapv:ManualMappingCuration +NANDO:2201027 Blue rubber bleb nevus syndrome skos:exactMatch MONDO:0007203 blue rubber bleb nevus semapv:ManualMappingCuration +NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:2201031 Primary lymphedema skos:exactMatch MONDO:0019175 primary lymphedema semapv:ManualMappingCuration +NANDO:2201032 Lymphangioma skos:exactMatch MONDO:0002013 lymphangioma semapv:ManualMappingCuration +NANDO:2201033 Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2201035 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2201038 Bilateral retinoblastoma skos:exactMatch MONDO:0003075 bilateral retinoblastoma semapv:ManualMappingCuration +NANDO:2201040 Bronchomalacia skos:exactMatch MONDO:0008888 Williams-Campbell syndrome semapv:ManualMappingCuration +NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:exactMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201047 Familial pulmonary arterial hypertension skos:exactMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201048 Secondary pulmonary arterial hypertension skos:exactMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:ManualMappingCuration +NANDO:2201050 Familial central diabetes insipidus skos:exactMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:ManualMappingCuration +NANDO:2201052 Multiple endocrine neoplasia type 2A skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2201053 Multiple endocrine neoplasia type 2B skos:exactMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:ManualMappingCuration +NANDO:2201054 Medullary thyroid carcinoma skos:exactMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2201055 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:ManualMappingCuration +NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:exactMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:exactMatch MONDO:0011849 psoriatic arthritis semapv:ManualMappingCuration +NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:exactMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:2201067 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:2201068 familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:exactMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:ManualMappingCuration +NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:exactMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:ManualMappingCuration +NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:exactMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:ManualMappingCuration +NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:exactMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:ManualMappingCuration +NANDO:2201075 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2201076 BH4 deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:2201078 Classic form maple syrup urine disease skos:exactMatch MONDO:0017051 classic maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201079 Intermediate maple syrup urine disease skos:exactMatch MONDO:0017052 intermediate maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201080 Intermittent maple syrup urine disease skos:exactMatch MONDO:0017053 intermittent maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:exactMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:ManualMappingCuration +NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016601 adult-onset citrullinemia type I semapv:ManualMappingCuration +NANDO:2201105 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:2201106 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:2201108 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:2201109 Methylcobalamin deficiency cblE type skos:exactMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:ManualMappingCuration +NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:exactMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0021915 arakawa syndrome 2 semapv:ManualMappingCuration +NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:ManualMappingCuration +NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2201151 Glycogen storage disease type 0a skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201152 Glycogen storage disease type 0b skos:exactMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201153 Glycogen storage disease type 1a skos:exactMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:ManualMappingCuration +NANDO:2201154 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:exactMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:ManualMappingCuration +NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:exactMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:ManualMappingCuration +NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:exactMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:ManualMappingCuration +NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:exactMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:ManualMappingCuration +NANDO:2201163 Glycogen storage disease type IV, adult form skos:exactMatch MONDO:0009897 adult polyglucosan body disease semapv:ManualMappingCuration +NANDO:2201164 Glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:2201165 Glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:2201166 Glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:2201167 Glycogen storage disease type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:2201169 Scheie disease skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:2201170 Hurler-Scheie disease skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:2201174 Mucopolysaccharidosis type III A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:2201175 Mucopolysaccharidosis type III B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:2201176 Mucopolysaccharidosis type III C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:2201177 Mucopolysaccharidosis type III D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:2201178 Mucopolysaccharidosis type IV A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:2201179 Mucopolysaccharidosis type IV B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:2201189 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:2201190 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:2201191 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:2201192 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201193 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201196 GM1 gangliosidosis, infantile form skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:2201197 GM1 gangliosidosis, juvenile form skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:2201198 GM1 gangliosidosis, adult form skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:2201199 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:2201200 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:2201201 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:2201204 Metachromatic leukodystrophy, adult form skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:2201205 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:2201206 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:2201207 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:2201210 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:2201211 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:2201212 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:2201216 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:2201219 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:2201229 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:2201232 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2201233 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201235 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201236 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:2201237 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:2201238 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201248 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:2201255 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:2201263 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:2201264 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:2201265 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:2201267 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:2201269 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201270 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:2201273 α-thalassemia skos:exactMatch MONDO:0011399 alpha thalassemia semapv:ManualMappingCuration +NANDO:2201274 β-thalassemia skos:exactMatch MONDO:0019402 beta thalassemia semapv:ManualMappingCuration +NANDO:2201275 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:2201276 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:ManualMappingCuration +NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:ManualMappingCuration +NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:ManualMappingCuration +NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:ManualMappingCuration +NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:ManualMappingCuration +NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2201288 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:2201289 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:2201291 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:2201292 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:2201294 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:2201296 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:2201299 AGAT deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:2201300 GAMT deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:2201301 SLC6A8 deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:exactMatch MONDO:0018112 isolated scaphocephaly semapv:ManualMappingCuration +NANDO:2201305 Non-syndromic metopic craniosynostosis skos:exactMatch MONDO:0018065 isolated trigonocephaly semapv:ManualMappingCuration +NANDO:2201317 Anti-NMDA receptor encephalitis skos:exactMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:ManualMappingCuration +NANDO:2201319 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:2201320 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201321 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201322 Neuromyelitis optica skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:2201341 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201342 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201343 Dystrophic epidermolysis bullosa skos:exactMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008702 achondrogenesis type II semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0019669 hypochondrogenesis semapv:ManualMappingCuration +NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:exactMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:ManualMappingCuration +NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:ManualMappingCuration +NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualMappingCuration +NANDO:2201350 Kniest dysplasia skos:exactMatch MONDO:0007987 Kniest dysplasia semapv:ManualMappingCuration +NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:exactMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:ManualMappingCuration +NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:ManualMappingCuration +NANDO:2201354 Stickler syndrome type 1 skos:exactMatch MONDO:0007160 Stickler syndrome type 1 semapv:ManualMappingCuration +NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:2201358 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:ManualMappingCuration +NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201361 Greenberg dysplasia skos:exactMatch MONDO:0008974 Greenberg dysplasia semapv:ManualMappingCuration +NANDO:2201362 Astley-Kendall dysplasia skos:exactMatch MONDO:0019408 Astley-Kendall dysplasia semapv:ManualMappingCuration +NANDO:2201364 Melorheostosis skos:exactMatch MONDO:0007970 melorheostosis semapv:ManualMappingCuration +NANDO:2201365 Dysosteosclerosis skos:exactMatch MONDO:0009138 dysosteosclerosis semapv:ManualMappingCuration +NANDO:2201366 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 craniometaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201367 Metaphyseal dysplasias skos:exactMatch MONDO:0009943 Pyle disease semapv:ManualMappingCuration +NANDO:2201368 Craniodiaphyseal dysplasia skos:exactMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201369 Sclerosteosis skos:exactMatch MONDO:0017838 sclerosteosis semapv:ManualMappingCuration +NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:ManualMappingCuration +NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:ManualMappingCuration +NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0009326 congenital heart block semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0019328 macrocystic lymphatic malformation semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0007099 familial visceral amyloidosis semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0007879 larynx atresia semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0015446 atypical coarctation of aorta semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200174 Chronic progressive external ophthalmoplegia skos:exactMatch MONDO:0005181 progressive external ophthalmoplegia semapv:ManualMappingCuration +NANDO:1201032 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:1201035 Creatine transporter deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:exactMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:ManualMappingCuration +NANDO:1201038 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:1201039 Homocystinuria type 1 skos:exactMatch MONDO:0009352 classic homocystinuria semapv:ManualMappingCuration +NANDO:1201040 Homocystinuria type 2 skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:1201041 Homocystinuria type 3 skos:exactMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:ManualMappingCuration +NANDO:1201042 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:ManualMappingCuration +NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:ManualMappingCuration +NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:ManualMappingCuration +NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:ManualMappingCuration +NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:ManualMappingCuration +NANDO:1201048 Acquired factor X inhibitor skos:exactMatch MONDO:0021134 acquired factor X deficiency semapv:ManualMappingCuration +NANDO:1201049 Senior-Loken syndrome skos:exactMatch MONDO:0017842 Senior-Loken syndrome semapv:ManualMappingCuration +NANDO:1201050 COACH syndrome skos:exactMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:ManualMappingCuration +NANDO:1201051 Oral-facial-digital syndrome skos:exactMatch MONDO:0015375 orofaciodigital syndrome semapv:ManualMappingCuration +NANDO:1201056 End-plate acetylcholine esterase deficiency skos:exactMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:ManualMappingCuration +NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:exactMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:ManualMappingCuration +NANDO:1201058 RAPADILINO syndrome skos:exactMatch MONDO:0009955 rapadilino syndrome semapv:ManualMappingCuration +NANDO:1201059 Baller-Gerold syndrome skos:exactMatch MONDO:0009039 Baller-Gerold syndrome semapv:ManualMappingCuration +NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:exactMatch MONDO:0019731 AApoAI amyloidosis semapv:ManualMappingCuration +NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:exactMatch MONDO:0007097 Finnish type amyloidosis semapv:ManualMappingCuration +NANDO:1201064 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:exactMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201070 Subcortical band heterotopia skos:exactMatch MONDO:0020491 subcortical band heterotopia semapv:ManualMappingCuration +NANDO:1201079 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 periventricular nodular heterotopia semapv:ManualMappingCuration +NANDO:1201071 Polymicrogyria skos:exactMatch MONDO:0000087 polymicrogyria semapv:ManualMappingCuration +NANDO:1201072 Cobblestone brain malformation skos:exactMatch MONDO:0018869 cobblestone lissencephaly semapv:ManualMappingCuration +NANDO:1201073 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:1201074 Porencephaly skos:exactMatch MONDO:0017410 porencephaly semapv:ManualMappingCuration +NANDO:1201080 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:1201081 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:1201083 Miller Dieker syndrome skos:exactMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:ManualMappingCuration +NANDO:1201075 Pseudohypoparathyroidism type 1A skos:exactMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:ManualMappingCuration +NANDO:1201076 Pseudohypoparathyroidism type 1B skos:exactMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:ManualMappingCuration +NANDO:1201077 Pseudohypoparathyroidism type 1C skos:exactMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:ManualMappingCuration +NANDO:1201078 Pseudohypoparathyroidism type 2 skos:exactMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:ManualMappingCuration +NANDO:2201385 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200892 Hereditary sideroblastic anemia skos:exactMatch MONDO:0020099 inherited sideroblastic anemia semapv:ManualMappingCuration +NANDO:1200079 Late infantile metachromatic leukodystrophy skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:1200081 Adult metachromatic leukodystrophy skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:1200428 Pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200480 Minicore myopathy skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:1200568 Focal cortical dysplasia type 2a skos:exactMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:ManualMappingCuration +NANDO:1200569 Focal cortical dysplasia type 2b skos:exactMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:ManualMappingCuration +NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200693 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:1200751 Alveolar hypoventilation syndrome skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:1200817 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:1200831 Phosphoglycerate kinase deficiency skos:exactMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:ManualMappingCuration +NANDO:1200889 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:1200995 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200054 Primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200111 Diffuse mesangial sclerosis skos:exactMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:ManualMappingCuration +NANDO:2200197 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2200261 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:exactMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200374 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200384 Ovarian dysgenesis skos:exactMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200389 5 alpha-reductase deficiency skos:exactMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:ManualMappingCuration +NANDO:2200425 Polyangiitis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:2200441 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200450 Deficiency of the enzyme ADA2 skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200459 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200603 Familial combined hyperlipidemia skos:exactMatch MONDO:0001336 familial hyperlipidemia semapv:ManualMappingCuration +NANDO:2200610 Congenital porphyria skos:exactMatch MONDO:0019142 inherited porphyria semapv:ManualMappingCuration +NANDO:2200613 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:2200672 Afibrinogenemia skos:exactMatch MONDO:0008737 congenital afibrinogenemia semapv:ManualMappingCuration +NANDO:2200673 Hypoprothrombinemia skos:exactMatch MONDO:0013361 congenital prothrombin deficiency semapv:ManualMappingCuration +NANDO:2200700 ZAP-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:2200737 STAT5b deficiency skos:exactMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:ManualMappingCuration +NANDO:2200773 CARD9 deficiency skos:exactMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:ManualMappingCuration +NANDO:2200788 Factor D deficiency skos:exactMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:ManualMappingCuration +NANDO:2200790 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200793 MASP2 deficiency skos:exactMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:ManualMappingCuration +NANDO:2200794 Ficolin 3 Deficiency skos:exactMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:ManualMappingCuration +NANDO:2200798 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200872 Minicore myopathy skos:exactMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:ManualMappingCuration +NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201268 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:2201277 Secondary aplastic anemia skos:exactMatch MONDO:0015610 acquired aplastic anemia semapv:ManualMappingCuration +NANDO:2201351 Spondyloperipheral dysplasia skos:exactMatch MONDO:0010078 spondyloperipheral dysplasia semapv:ManualMappingCuration From 82344e74073ee70bf7043df247a28b5d372a04fa Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Thu, 16 May 2024 15:22:32 -0400 Subject: [PATCH 05/14] NanDO mappings - Add: ROBOT template for NanDO mappings - Update: Make goal for creating NanDO ROBOT template General - Add: Script for converting SSSOM to ROBOT template --- .../external/nando-mappings.robot.tsv | 2347 +++++++++++++++++ src/ontology/mondo-ingest.Makefile | 4 +- src/scripts/sssom_to_robot_template.py | 52 + 3 files changed, 2401 insertions(+), 2 deletions(-) create mode 100644 src/ontology/external/nando-mappings.robot.tsv create mode 100644 src/scripts/sssom_to_robot_template.py diff --git a/src/ontology/external/nando-mappings.robot.tsv b/src/ontology/external/nando-mappings.robot.tsv new file mode 100644 index 00000000..bc2c775d --- /dev/null +++ b/src/ontology/external/nando-mappings.robot.tsv @@ -0,0 +1,2347 @@ +subject_id subject_label object_id object_label equivalence ORCID +ID A oboInOwl:hasDbXref >A oboInOwl:source >A oboInOwl:source SPLIT=| +NANDO:1100001 Neuromuscular disease MONDO:0019056 neuromuscular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100002 Metabolic disease MONDO:0004955 obsolete metabolic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100002 Metabolic disease MONDO:0005066 metabolic disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100004 Immune system disease MONDO:0005046 immune system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100005 Cardiovascular disease MONDO:0004995 cardiovascular disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100006 Blood disease MONDO:0005570 hematologic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100009 Endocrine disease MONDO:0005151 endocrine system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100010 Respiratory disease MONDO:0005087 respiratory system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100013 Gastrointestinal disease MONDO:0004335 digestive system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100014 Chromosome abnormality MONDO:0019040 chromosomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1100015 Otorhinolaryngological disease MONDO:0024623 otorhinolaryngologic disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200001 Spinal and bulbar muscular atrophy MONDO:0010735 Kennedy disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200001 Spinal and bulbar muscular atrophy MONDO:0016113 bulbospinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200002 Amyotrophic lateral sclerosis MONDO:0004976 amyotrophic lateral sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200003 Spinal muscular atrophy MONDO:0001516 spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200004 Spinal muscular atrophy type I MONDO:0009669 spinal muscular atrophy, type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200005 Spinal muscular atrophy type II MONDO:0009673 spinal muscular atrophy, type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200006 Spinal muscular atrophy type III MONDO:0009672 spinal muscular atrophy, type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200007 Spinal muscular atrophy type IV MONDO:0010056 spinal muscular atrophy, type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200008 Primary lateral sclerosis MONDO:0018155 lateral sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200009 Progressive supranuclear palsy MONDO:0019037 progressive supranuclear palsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200010 Parkinson's disease MONDO:0005180 Parkinson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200011 Corticobasal degeneration MONDO:0022308 corticobasal degeneration disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200011 Corticobasal degeneration MONDO:0022880 obsolete corticobasal degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200012 Huntington's disease MONDO:0007739 Huntington disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200013 Neuroacanthocytosis MONDO:0016987 neuroacanthocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200014 Chorea-acanthocytosis MONDO:0008695 chorea-acanthocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200015 McLeod syndrome MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200016 Charcot-Marie-Tooth disease MONDO:0015626 Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200017 Charcot-Marie-Tooth disease type 1 MONDO:0019011 Charcot-Marie-Tooth disease type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200018 Charcot-Marie-Tooth disease type 2 MONDO:0018993 Charcot-Marie-Tooth disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200019 Intermediate Charcot-Marie-Tooth disease MONDO:0018778 intermediate Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200020 Myasthenia gravis MONDO:0009688 myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200021 Congenital myasthenic syndrome MONDO:0018940 congenital myasthenic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200023 Multiple sclerosis MONDO:0005301 multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200024 Relapsing-remitting multiple sclerosis MONDO:0005314 relapsing-remitting multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200025 Primary progressive multiple sclerosis MONDO:0000451 primary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200026 Secondary progressive multiple sclerosis MONDO:0000450 secondary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200027 Neuromyelitis optica spectrum disorders MONDO:0019100 neuromyelitis optica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200028 Baló concentric sclerosis MONDO:0016430 Balo concentric sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:0007691 Guillain-Barre syndrome, familial MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200031 Multifocal motor neuropathy MONDO:0018979 multifocal motor neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200032 Sporadic inclusion body myositis MONDO:0007827 inclusion body myositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200033 Crow-Fukase syndrome MONDO:0017364 POEMS syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200034 Multiple system atrophy MONDO:0007803 multiple system atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200035 Multiple system atrophy, cerebellar type MONDO:0016418 multiple system atrophy, cerebellar type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200036 Multiple system atrophy, Parkinsonian type MONDO:0020352 multiple system atrophy, parkinsonian type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200037 Spinocerebellar degeneration MONDO:0000437 cerebellar ataxia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200041 Spinocerebellar ataxia type 3 MONDO:0007182 Machado-Joseph disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200042 Spinocerebellar ataxia type 6 MONDO:0008457 spinocerebellar ataxia type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200043 Dentatorubropallidoluysian atrophy MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200044 Spinocerebellar ataxia type 31 MONDO:0007296 spinocerebellar ataxia type 31 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200045 Spinocerebellar ataxia type 1 MONDO:0008119 spinocerebellar ataxia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200046 Spinocerebellar ataxia type 2 MONDO:0008458 spinocerebellar ataxia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200047 Spinocerebellar ataxia type 7 MONDO:0008120 obsolete spinocerebellar ataxia type 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200048 Spinocerebellar ataxia type 36 MONDO:0013594 spinocerebellar ataxia type 36 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200050 Ataxia with isolated vitamin E deficiency MONDO:0010188 familial isolated deficiency of vitamin E MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200051 Ataxia-oculomotor apraxia type 1 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200052 Hereditary spastic paraplegia MONDO:0019064 hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200053 Pure hereditary spastic paraplegia MONDO:0015149 pure hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200054 Complex hereditary spastic paraplegia MONDO:0015150 complex hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200055 Lysosomal storage disease MONDO:0002561 lysosomal storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200056 Gaucher disease MONDO:0018150 Gaucher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200057 Gaucher disease type 1 MONDO:0009265 Gaucher disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200058 Gaucher disease type 2 MONDO:0009266 Gaucher disease type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200059 Gaucher disease type 3 MONDO:0009267 Gaucher disease type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200061 Niemann-Pick disease type A MONDO:0009756 Niemann-Pick disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200062 Niemann-Pick disease type B MONDO:0011871 Niemann-Pick disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200063 Niemann-Pick disease type C MONDO:0018982 Niemann-Pick disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200065 Adult-onset Niemann-Pick disease type C MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200066 GM1 gangliosidosis MONDO:0018149 GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200067 Infantile GM1 gangliosidosis MONDO:0009260 GM1 gangliosidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200068 Juvenile GM1 gangliosidosis MONDO:0009261 GM1 gangliosidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200069 Adult GM1 gangliosidosis MONDO:0009262 GM1 gangliosidosis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200070 GM2 gangliosidosis MONDO:0017720 GM2 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200071 Tay-Sachs disease MONDO:0010100 Tay-Sachs disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200072 Sandhoff disease MONDO:0010006 Sandhoff disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200073 GM2 gangliosidosis AB variant MONDO:0010099 Tay-Sachs disease AB variant MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200074 Krabbe disease MONDO:0009499 Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200075 Infantile Krabbe disease MONDO:0016089 infantile Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200077 Adult Krabbe disease MONDO:0016091 adult Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200078 Metachromatic leukodystrophy MONDO:0018868 metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200079 Late infantile metachromatic leukodystrophy MONDO:0017729 metachromatic leukodystrophy, late infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200080 Juvenile ｍetachromatic leukodystrophy MONDO:0009591 metachromatic leukodystrophy, juvenile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200081 Adult metachromatic leukodystrophy MONDO:0017730 metachromatic leukodystrophy, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200082 Saposin B deficiency MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200083 Multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200086 Farber disease MONDO:0009218 Farber lipogranulomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200094 Hurler syndrome MONDO:0011758 Hurler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200095 Scheie syndrome MONDO:0011760 Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200096 Hurler-Scheie syndrome MONDO:0011759 Hurler-Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200097 Hunter syndrome MONDO:0010674 mucopolysaccharidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200098 Hunter syndrome type A MONDO:0016315 mucopolysaccharidosis type 2, severe form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200099 Hunter syndrome type B MONDO:0016316 mucopolysaccharidosis type 2, attenuated form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200100 Sanfilippo disease MONDO:0018937 mucopolysaccharidosis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200101 Sanfilippo disease type A MONDO:0009655 mucopolysaccharidosis type 3A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200102 Sanfilippo disease type B MONDO:0009656 mucopolysaccharidosis type 3B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200103 Sanfilippo disease type C MONDO:0009657 mucopolysaccharidosis type 3C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200104 Sanfilippo disease type D MONDO:0009658 mucopolysaccharidosis type 3D MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200105 Morquio syndrome MONDO:0018938 mucopolysaccharidosis type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200106 Morquio syndrome type A MONDO:0009659 mucopolysaccharidosis type 4A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200107 Morquio syndrome type B MONDO:0009660 mucopolysaccharidosis type 4B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200108 Maroteaux-Lamy syndrome MONDO:0009661 mucopolysaccharidosis type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form MONDO:0009661 mucopolysaccharidosis type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form MONDO:0009661 mucopolysaccharidosis type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200111 Sly syndrome MONDO:0009662 mucopolysaccharidosis type 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200115 Hyaluronidase deficiency MONDO:0011093 mucopolysaccharidosis type 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200116 Sialidosis MONDO:0017734 sialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200117 Sialidosis type 1 MONDO:0019346 sialidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200118 Sialidosis type 2 MONDO:0009738 sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200119 Galactosialidosis MONDO:0009737 galactosialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200120 Galactosialidosis, early infantile form MONDO:0009738 sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200124 Mucolipidosis II MONDO:0009650 mucolipidosis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200125 Mucolipidosis III MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200126 Alpha-mannosidosis MONDO:0009561 alpha-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200127 Alpha-mannosidosis, infantile form MONDO:0017732 alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200127 Alpha-mannosidosis, infantile form MONDO:0022424 alpha-mannosidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200128 Alpha-mannosidosis, adult form MONDO:0017733 alpha-mannosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200129 Beta-mannosidosis MONDO:0009562 beta-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200130 Fucosidosis MONDO:0009254 fucosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200133 Aspartylglucosaminuria MONDO:0008830 aspartylglucosaminuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200134 Schindler disease MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200135 Schindler disease type I MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200136 Schindler disease type 2 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200137 Schindler disease type 3 MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200138 Pompe disease MONDO:0009290 glycogen storage disease II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200139 Classic infantile Pompe disease MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200142 Acid lipase deficiency MONDO:0019148 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200143 Wolman disease MONDO:0019148 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200144 Cholesterol ester storage disease MONDO:0019149 cholesteryl ester storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200145 Danon disease MONDO:0010281 Danon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200146 Free sialic acid storage disease MONDO:0019366 free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200147 Infantile free sialic acid storage disease MONDO:0010027 free sialic acid storage disease, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200148 Intermediate severe Salla disease MONDO:0017737 intermediate severe Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200149 Salla disease MONDO:0011449 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200150 Neuronal ceroid-lipofuscinosis MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200151 Congenital neuronal ceroid lipofuscinosis MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200155 Adult neuronal ceroid lipofuscinosis MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200157 Fabry disease MONDO:0010526 Fabry disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200161 Cystinosis MONDO:0016239 cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200162 Nephropathic cystinosis MONDO:0018467 nephropathic infantile cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200162 Nephropathic cystinosis MONDO:0100151 nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200163 Intermediate cystinosis MONDO:0009066 juvenile nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200164 Non-nephropathic cystinosis MONDO:0009064 ocular cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200165 Adrenoleukodystrophy MONDO:0018544 adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200166 Childhood cerebral adrenoleukodystrophy MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200168 Adrenomyeloneuropathy MONDO:0015339 adrenomyeloneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200173 Mitochondrial diseases MONDO:0004069 inborn mitochondrial metabolism disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200173 Mitochondrial diseases MONDO:0044970 mitochondrial disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200174 Chronic progressive external ophthalmoplegia MONDO:0005181 progressive external ophthalmoplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200175 Leigh's encephalomyelopathy MONDO:0009723 Leigh syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome MONDO:0010789 MELAS syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers MONDO:0010790 MERRF syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200178 Leber hereditary optic neuropathy MONDO:0010788 Leber hereditary optic neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200180 Mitochondrial complex I deficiency MONDO:0100133 mitochondrial complex I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200180 Mitochondrial complex I deficiency MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200181 Mitochondrial complex II deficiency MONDO:0009641 obsolete mitochondrial complex II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200183 Moyamoya disease MONDO:0016820 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200186 Prion disease MONDO:0005429 prion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200187 Sporadic Creutzfeldt-Jakob disease MONDO:0016079 sporadic Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200188 Genetic prion diseases MONDO:0017234 inherited prion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200189 Familial Creutzfeldt-Jakob disease MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200191 Fatal familial insomnia MONDO:0010808 fatal familial insomnia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease MONDO:0018686 acquired Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200194 Variant Creutzfeldt-Jakob disease MONDO:0007012 variant Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200195 Subacute sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200196 Typical subacute sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200198 Subacute progressive sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200205 Progressive multifocal leukoencephalopathy MONDO:0016318 progressive multifocal leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200206 HTLV-1-associated myelopathy MONDO:0008039 tropical spastic paraparesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200207 Idiopathic basal ganglia calcification MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200208 Familial idiopathic basal ganglia calcification MONDO:0024538 basal ganglia calcification, idiopathic, 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200209 Systemic amyloidosis MONDO:0017816 primary systemic amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200211 Amyloid light-chain amyloidosis MONDO:0019438 AL amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200212 Transthyretin-related senile systemic amyloidosis MONDO:0018018 wild type ATTR amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200214 Familial amyloid polyneuropathy MONDO:0007100 familial amyloid neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200215 Ullrich disease MONDO:0000355 Ullrich congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200215 Ullrich disease MONDO:0009681 Ullrich congenital muscular dystrophy 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200216 Distal myopathy MONDO:0018949 distal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200217 Miyoshi myopathy MONDO:0009685 Miyoshi myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:0007827 inclusion body myositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:0011603 GNE myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:0014945 myopathy, distal, with rimmed vacuoles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200219 Oculopharyngodistal myopathy MONDO:0020793 oculopharyngodistal myopathy 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200219 Oculopharyngodistal myopathy MONDO:0025193 oculopharyngodistal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200220 Bethlem Myopathy MONDO:0008029 Bethlem myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200222 Danon disease MONDO:0010281 Danon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200223 X-linked Myopathy with excessive autophagy MONDO:0010684 X-linked myopathy with excessive autophagy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200224 Schwartz-Jampel syndrome MONDO:0009717 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200225 Neurofibromatosis MONDO:0018975 neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200225 Neurofibromatosis MONDO:0021061 neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200226 Neurofibromatosis type 1 MONDO:0018975 neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200226 Neurofibromatosis type 1 MONDO:0021061 neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200227 Neurofibromatosis type 2 MONDO:0007039 neurofibromatosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200227 Neurofibromatosis type 2 MONDO:0021061 neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200228 Pemphigus MONDO:0006594 pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200229 Pemphigus vulgaris MONDO:0008219 pemphigus vulgaris MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200230 Pemphigus foliaceus MONDO:0019324 pemphigus foliaceus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200231 Paraneoplastic pemphigus MONDO:0018974 paraneoplastic pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200232 Pemphigus vegetans MONDO:0019322 pemphigus vegetans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200233 Pemphigus erythematosus MONDO:0019323 pemphigus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200234 Epidermolysis bullosa MONDO:0006541 epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200235 Epidermolysis bullosa simplex MONDO:0017610 epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200236 Junctional epidermolysis bullosa MONDO:0017612 junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200238 Recessive dystrophic epidermolysis bullosa MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200239 Kindler syndrome MONDO:0008260 Kindler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200240 Pustular psoriasis MONDO:0016597 obsolete generalized pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200240 Pustular psoriasis MONDO:0022205 pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200243 Impetigo herpetiformis MONDO:0004591 impetigo herpetiformis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200244 Acrodermatitis continua of Hallopeau MONDO:0013626 psoriasis 14, pustular MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200245 Stevens-Johnson syndrome MONDO:0018229 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200246 Toxic epidermal necrolysis MONDO:0019810 toxic epidermal necrolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200251 Takayasu arteritis MONDO:0006656 aortitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200251 Takayasu arteritis MONDO:0017991 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200258 Giant cell arteritis MONDO:0008538 temporal arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200259 Cranial giant cell arteritis MONDO:0008538 temporal arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200260 Large-vessel giant cell arteritis MONDO:0008538 temporal arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200261 Polyarteritis nodosa MONDO:0019170 polyarteritis nodosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200262 Microscopic polyangiitis MONDO:0019124 microscopic polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200263 Granulomatosis with polyangiitis MONDO:0012105 granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200264 Eosinophilic granulomatosis with polyangiitis MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200265 Rheumatoid vasculitis MONDO:0043267 rheumatoid vasculitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200266 Buerger's disease MONDO:0008889 thromboangiitis obliterans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200267 Primary antiphospholipid antibody syndrome MONDO:0005204 primary antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200270 Catastrophic antiphospholipid syndrome MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200271 Antiphospholipid antibody-related disease MONDO:0007140 obsolete antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200272 Systemic lupus erythematosus MONDO:0007915 systemic lupus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200274 Dermatomyositis MONDO:0016367 dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200275 Amyopathic dermatomyositis MONDO:0043317 amyopathic dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200276 Polymyositis MONDO:0019127 polymyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200277 Systemic sclerosis MONDO:0005100 systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200278 Mixed connective tissue disease MONDO:0005854 mixed connective tissue disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200279 Sjogren's syndrome MONDO:0010030 Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200280 Primary Sjogren's syndrome MONDO:0010030 Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200282 Adult Still's disease MONDO:0019355 adult-onset Still disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200283 Relapsing polychondritis MONDO:0019125 relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200284 Behcet's disease MONDO:0007191 Behcet disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200286 Hypertrophic cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200288 Hypertrophic obstructive cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200292 Restrictive cardiomyopathy MONDO:0005201 restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200293 Idiopathic restrictive cardiomyopathy MONDO:0005201 restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200294 Secondary restrictive cardiomyopathy MONDO:0016345 non-familial restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200295 Aplastic anemia MONDO:0015909 aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200296 Idiopathic aplastic anemia MONDO:0012197 idiopathic aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200301 Borderline between aplastic anemia and MDS MONDO:0013851 autosomal dominant aplasia and myelodysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200301 Borderline between aplastic anemia and MDS MONDO:0015909 aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200302 Congenital aplastic anemia MONDO:0001713 inherited aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200303 Fanconi anemia MONDO:0019391 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200304 Dyskeratosis congenita MONDO:0015780 dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200305 Autoimmune hemolytic anemia MONDO:0020108 autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200306 Warm antibody hemolytic anemia MONDO:0019532 autoimmune hemolytic anemia, warm type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200307 Cold agglutinin disease MONDO:0018922 cold agglutinin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200308 Paroxysmal cold hemoglobinuria MONDO:0019533 paroxysmal cold hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200309 Mixed-type autoimmune hemolytic anemia MONDO:0019534 mixed-type autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200310 Evans syndrome MONDO:0016030 Evans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200311 Paroxysmal nocturnal hemoglobinuria MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200315 Idiopathic thrombocytopenic purpura MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200316 Thrombotic thrombocytopenic purpura MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200317 Congenital thrombotic thrombocytopenic purpura MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200319 Secondary thrombotic thrombocytopenic purpura MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200320 Primary immunodeficiency syndrome MONDO:0003778 inborn error of immunity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200321 X-linked severe combined immunodeficiency MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200322 Reticular dysgenesis MONDO:0009973 reticular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200323 Adenosine deaminase deficiency MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200324 Omenn syndrome MONDO:0011338 Omenn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200325 Purine nucleoside phosphorylase deficiency MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200326 CD8 deficiency MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200327 Zap-70 deficiency MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200328 MHC class I deficiency MONDO:0011476 MHC class I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200329 MHC class II deficiency MONDO:0008855 MHC class II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200330 Wiskott-Aldrich syndrome MONDO:0010518 Wiskott-Aldrich syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200331 Ataxia telangiectasia MONDO:0008840 ataxia telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200332 Nijmegen breakage syndrome MONDO:0009623 Nijmegen breakage syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200333 Bloom syndrome MONDO:0008876 Bloom syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200334 ICF syndrome MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200336 RIDDLE syndrome MONDO:0012764 RIDDLE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200337 Schimke syndrome MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200338 Netherton syndrome MONDO:0009735 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200339 Thymus hypoplasia MONDO:0008564 DiGeorge syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200339 Thymus hypoplasia MONDO:0008644 velocardiofacial syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200339 Thymus hypoplasia MONDO:0018923 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200340 Hyper-IgE syndrome MONDO:0018037 hyper-IgE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200342 Dyskeratosis congenita MONDO:0015780 dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200343 X-linked agammaglobulinemia MONDO:0010421 Bruton-type agammaglobulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200344 Common variable immunodeficiency MONDO:0015517 common variable immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200345 Hyper-IgM syndrome MONDO:0003947 hyper-IgM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200346 IgG subclass deficiency MONDO:0045045 selective IgG immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200347 Selective IgA deficiency MONDO:0001341 selective IgA deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200350 Chédiak-Higashi syndrome MONDO:0008963 Chediak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200351 X-linked lymphoproliferative syndrome MONDO:0010627 X-linked lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200352 Autoimmune lymphoproliferative syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200353 Severe congenital neutropenia MONDO:0018542 severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200354 Cyclic neutropenia MONDO:0008090 cyclic hematopoiesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200355 Leukocyte adhesion deficiency MONDO:0017570 leukocyte adhesion deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200356 Shwachman-Diamond syndrome MONDO:0009833 Shwachman-Diamond syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200357 Chronic granulomatous disease MONDO:0018305 chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200358 Myeloperoxidase deficiency MONDO:0009694 myeloperoxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200359 Mendelian susceptibility to mycobacterial disease MONDO:0019146 inherited susceptibility to mycobacterial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200361 IRAK4 deficiency MONDO:0011888 immunodeficiency 67 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200362 MyD88 deficiency MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200363 Chronic mucocutaneous candidiasis MONDO:0015279 chronic mucocutaneous candidiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200364 Inherited deficiency of complement system MONDO:0003832 complement deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200365 Hereditary angioedema MONDO:0007361 C1 inhibitor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200365 Hereditary angioedema MONDO:0019623 hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200366 IgA nephropathy MONDO:0005342 IgA glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200367 Polycystic kidney disease MONDO:0020642 polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200368 Autosomal dominant polycystic kidney disease MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200369 Autosomal recessive polycystic kidney disease MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200371 Ossification of posterior longitudinal ligament MONDO:0011230 ossification of the posterior longitudinal ligament of the spine MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200372 Coexisting cervical and lumbar spinal stenosis MONDO:0005965 spinal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200373 Idiopathic osteonecrosis of femoral head MONDO:0012126 familial avascular necrosis of femoral head MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200375 Central diabetes insipidus MONDO:0015790 central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:0006802 inappropriate ADH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome MONDO:0019611 TSH-secreting pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200379 Cushing disease MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200381 Central precocious puberty MONDO:0019165 central precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200382 Idiopathic hypogonadotropic hypogonadism MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200383 Congenital hypogonadotropic hypogonadism MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200385 Growth hormone secreting pituitary adenoma MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200387 Hypopituitarism syndrome MONDO:0005152 hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200388 Hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200390 Thyroid-stimulating hormone deficiency MONDO:0016410 central congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200394 Homozygous familial hypercholesterolemia MONDO:0018328 homozygous familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200395 Resistance to thyroid hormone MONDO:0001328 thyroid hormone resistance syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200395 Resistance to thyroid hormone MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200396 Congenital adrenal enzyme deficiency MONDO:0018479 congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200397 Congenital lipoid adrenal hyperplasia MONDO:0018479 congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200399 21-Hydroxylase deficiency MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200400 11-β-Hydroxylase deficiency MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200401 17-α-Hydroxylase deficiency MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200402 P450 oxidoreductase deficiency MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200403 Congenital adrenal hypoplasia MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200403 Congenital adrenal hypoplasia MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200404 DAX1 abnormality MONDO:0010226 46,XY sex reversal 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200405 SF-1 abnormality MONDO:0013066 46,XY sex reversal 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200406 IMAge syndrome MONDO:0013873 IMAGe syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200408 MC2R deficiency MONDO:0024536 glucocorticoid deficiency 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200409 MRAP deficiency MONDO:0011826 glucocorticoid deficiency 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200410 Allgrove syndrome MONDO:0009279 triple-A syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200411 Addison's disease MONDO:0009410 obsolete Addison disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200411 Addison's disease MONDO:0015129 chronic primary adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200412 Autoimmune Addison's disease MONDO:0009410 obsolete Addison disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200415 Sarcoidosis MONDO:0019338 sarcoidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200416 Idiopathic interstitial pneumonia MONDO:0002429 idiopathic interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200417 Idiopathic pulmonary fibrosis MONDO:0008345 obsolete idiopathic pulmonary fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200419 Non-specific interstitial pneumonia MONDO:0019622 non-specific interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200420 Acute interstitial pneumonia MONDO:0019203 acute interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200421 Cryptogenic organizing pneumonia MONDO:0015264 cryptogenic organizing pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200422 Desquamative interstitial pneumonia MONDO:0009887 desquamative interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease MONDO:0009887 desquamative interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200424 Lymphoid interstitial pneumonia MONDO:0009537 lymphoid interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200425 Pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200427 Pulmonary veno-occlusive disease MONDO:0009937 pulmonary venoocclusive disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200428 Pulmonary capillary hemangiomatosis MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200429 Chronic thromboembolic pulmonary hypertension MONDO:0013024 chronic thromboembolic pulmonary hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200430 Lymphangioleiomyomatosis MONDO:0011705 lymphangioleiomyomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200431 Retinitis pigmentosa MONDO:0019200 retinitis pigmentosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200437 Budd-Chiari syndrome MONDO:0010947 Budd-Chiari syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200438 Idiopathic portal hypertension MONDO:0021969 Banti syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200439 Primary biliary cholangitis MONDO:0005388 primary biliary cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200440 Primary sclerosing cholangitis MONDO:0013433 primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200440 Primary sclerosing cholangitis MONDO:0018646 sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200441 Autoimmune hepatitis MONDO:0016264 autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200442 Typical autoimmune hepatitis MONDO:0016264 autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200444 Crohn's disease MONDO:0005011 Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200445 small bowel Crohn disease MONDO:0005539 small bowel Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200446 Colonic Crohn's disease MONDO:0005011 Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200446 Colonic Crohn's disease MONDO:0005532 Crohn's colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200447 Crohn ileocolitis MONDO:0005534 ileocolitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200449 Ulcerative colitis MONDO:0005101 ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200450 Pan-ulcerative colitis MONDO:0005536 pancolitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200451 Left-sided colitis MONDO:0005533 distal colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200454 Eosinophilic gastrointestinal disorders MONDO:0018438 eosinophilic gastrointestinal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200456 Eosinophilic esophagitis MONDO:0005361 eosinophilic esophagitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200457 Eosinophilic gastroenteritis MONDO:0016129 eosinophilic gastroenteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction MONDO:0017574 chronic intestinal pseudoobstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200460 Congenital isolated hypoganglionosis MONDO:0008738 aganglionosis, total intestinal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200461 Rubinstein-Taybi syndrome MONDO:0019188 Rubinstein-Taybi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200462 CFC Syndrome MONDO:0015280 cardiofaciocutaneous syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200463 Costello syndrome MONDO:0009026 Costello syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200464 CHARGE syndrome MONDO:0008965 CHARGE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200465 Cryopyrin-associated periodic syndrome MONDO:0016168 cryopyrin-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200466 Familial cold autoinflammatorysyndrome MONDO:0018768 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200467 Muckle-Wells syndrome MONDO:0008633 Muckle-Wells syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome MONDO:0011776 CINCA syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200469 Juvenile idiopathic arthritis MONDO:0011429 juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200470 Systemic juvenile idiopathic arthritis MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200471 Articular-type juvenile idiopathic arthritis MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200472 TNF receptor-associated periodic fever syndrome MONDO:0007727 autosomal dominant familial periodic fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200473 Atypical hemolytic uremic syndrome MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200474 Congenital atypical hemolytic uremic syndrome MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200476 Blau syndrome MONDO:0008523 Blau syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200477 Congenital myopathy MONDO:0019952 congenital myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200478 Nemaline myopathy MONDO:0018958 nemaline myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200479 Central core disease MONDO:0007294 central core myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200480 Minicore myopathy MONDO:0018948 multiminicore myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200481 Myotubular myopathy MONDO:0018947 centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200482 Centronuclear myopathy MONDO:0002921 congenital structural myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200482 Centronuclear myopathy MONDO:0018947 centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200483 Congenital fiber-type disproportion myopathy MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200485 Marinesco-Sjogren syndrome MONDO:0009567 Marinesco-Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200486 Muscular dystrophy MONDO:0020121 muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200487 Dystrophinopathies MONDO:0016147 qualitative or quantitative defects of dystrophin MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200488 Duchenne muscular dystrophy MONDO:0010679 Duchenne muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200489 Becker muscular dystrophy MONDO:0010311 Becker muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200490 Limb-girdle muscular dystrophy MONDO:0016971 limb-girdle muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200491 Facioscapulohumeral muscular dystrophy MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200492 Emery-Dreifuss muscular dystrophy MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200493 Oculopharyngeal muscular dystrophy MONDO:0008116 oculopharyngeal muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200494 Fukuyama type congenital muscular dystrophy MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200495 Myotonic dystrophy MONDO:0016107 myotonic dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200496 Non-dystrophic myotonia MONDO:0016110 obsolete non-dystrophic myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200497 Myotonia congenita MONDO:0009710 Thomsen and Becker disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200498 Thomsen disease MONDO:0009710 Thomsen and Becker disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200499 Becker disease MONDO:0009715 myotonia congenita, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200500 Sodium channel myotonia MONDO:0018959 potassium-aggravated myotonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200501 Paramyotonia congenita MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200502 Hereditary periodic paralysis MONDO:0000995 familial periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200503 Hereditary hypokalemic periodic paralysis MONDO:0008223 hypokalemic periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200504 Hereditary hyperkalemic periodic paralysis MONDO:0008224 hyperkalemic periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200506 Syringomyelia MONDO:0017987 syringomyelia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200507 Symptomatic syringomyelia MONDO:0017987 syringomyelia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200509 Myelomeningocele MONDO:0017069 spina bifida cystica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200509 Myelomeningocele MONDO:0019773 myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200510 Isaacs syndrome MONDO:0019399 Isaac syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200511 Hereditary dystonia MONDO:0044807 inherited dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200512 Dystonia 1 MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200512 Dystonia 1 MONDO:0044808 obsolete early onset primary dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200513 Dystonia 2 MONDO:0009141 torsion dystonia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200514 Dystonia 3 MONDO:0010747 X-linked dystonia-parkinsonism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200515 Dystonia 4 MONDO:0007493 torsion dystonia 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200516 Dystonia 5 MONDO:0007495 dystonia 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200516 Dystonia 5 MONDO:0016812 dopa-responsive dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200517 Dystonia 6 MONDO:0011264 torsion dystonia 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200518 Dystonia 7 MONDO:0011200 torsion dystonia 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200519 Dystonia 8 MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200520 Dystonia 9 MONDO:0010983 dystonia 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200521 Dystonia 10 MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200522 Dystonia 11 MONDO:0000903 myoclonus-dystonia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200523 Dystonia 12 MONDO:0007496 dystonia 12 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200524 Rapid-onset dystonia-parkinsonism MONDO:0007496 dystonia 12 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200525 Alternating hemiplegia of childhood MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200527 Dystonia 13 MONDO:0011886 torsion dystonia 13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200528 Dystonia 15 MONDO:0011844 myoclonic dystonia 15 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200529 Dystonia 16 MONDO:0012789 dystonia 16 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200530 Dystonia 17 MONDO:0012895 torsion dystonia 17 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200531 Dystonia 18 MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200532 Dystonia 19 MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200533 Dystonia 20 MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration MONDO:0016304 classic pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B MONDO:0012444 neurodegeneration with brain iron accumulation 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 MONDO:0011638 neuroferritinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 MONDO:0011426 aceruloplasminemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 MONDO:0013674 neurodegeneration with brain iron accumulation 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration MONDO:0012866 hereditary spastic paraplegia 35 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200542 Neuroferritinopathy MONDO:0011638 neuroferritinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200543 Superficial siderosis MONDO:0016594 superficial siderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:0010829 CARASIL syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200547 Perry syndrome MONDO:0008201 Perry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200548 Frontotemporal lobar degeneration MONDO:0017276 frontotemporal dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200549 Behavioral variant frontotemporal dementia MONDO:0017160 behavioral variant of frontotemporal dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200550 Semantic dementia MONDO:0010857 semantic dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200551 Bickerstaff's brainstem encephalitis MONDO:0019208 Bickerstaff brainstem encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200553 Congenital insensitivity to pain with anhidrosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200554 Alexander disease MONDO:0008752 Alexander disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200555 Alexander disease type I MONDO:0018209 Alexander disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200556 Alexander disease type II MONDO:0018210 Alexander disease type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200558 Congenital suprabulbar paresis MONDO:0008503 Worster-Drought syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200559 Moebius syndrome MONDO:0008006 Mobius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome MONDO:0008428 septooptic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200561 Septo-optic dysplasia MONDO:0008428 septooptic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200561 Septo-optic dysplasia MONDO:0019029 segmental odontomaxillary dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200562 Aicardi syndrome MONDO:0010568 Aicardi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200563 Hemimegalencephaly MONDO:0020492 hemimegalencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200564 Focal cortical dysplasia MONDO:0019009 isolated focal cortical dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200565 Focal cortical dysplasia type 1a MONDO:0017096 isolated focal cortical dysplasia type Ia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200566 Focal cortical dysplasia type 1b MONDO:0017097 isolated focal cortical dysplasia type Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200567 Focal cortical dysplasia type 1c MONDO:0017098 isolated focal cortical dysplasia type Ic MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200568 Focal cortical dysplasia type 2a MONDO:0017101 isolated focal cortical dysplasia type IIa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200569 Focal cortical dysplasia type 2b MONDO:0017102 isolated focal cortical dysplasia type IIb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200574 Neuronal migration defects MONDO:0018838 lissencephaly spectrum disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200575 Congenital hypomyelinating leukodystrophy MONDO:0019046 leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200576 Pelizaeus-Merzbacher disease MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200577 Pelizaeus-Merzbacher like disease MONDO:0017226 Pelizaeus-Merzbacher-like disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:0012905 hypomyelinating leukodystrophy 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200579 18q-syndrome MONDO:0011147 chromosome 18q deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200580 Allan-Herndon-Dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200581 Mitochondrial Hsp60 chaperonopathy MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200582 Salla disease MONDO:0011449 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200584 Hypomyelination and congenital cataract MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease MONDO:0012198 PCWH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200587 Dravet syndrome MONDO:0100135 Dravet syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200589 Myoclonic absence epilepsy MONDO:0019487 epilepsy with myoclonic absences MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200590 Epilepsy with myoclonic atonic seizures MONDO:0016025 myoclonic-astatic epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200591 Lennox-Gastaut syndrome MONDO:0016532 Lennox-Gastaut syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200592 West syndrome MONDO:0018097 West syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200593 Ohtahara syndrome MONDO:0100062 developmental and epileptic encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200594 Early myoclonic encephalopathy MONDO:0016022 early myoclonic encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200595 Epilepsy of infancy with migrating focal seizures MONDO:0017385 malignant migrating partial seizures of infancy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200595 Epilepsy of infancy with migrating focal seizures MONDO:0100025 epilepsy of infancy with migrating focal seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200597 Ring chromosome 20 syndrome MONDO:0015436 ring chromosome 20 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200598 Rasmussen's encephalitis MONDO:0016019 Rasmussen subacute encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200599 PCDH19-related syndrome MONDO:0010246 developmental and epileptic encephalopathy, 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep MONDO:0019123 continuous spikes and waves during sleep MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep MONDO:0022858 continuous spike-wave during slow sleep syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200602 Landau-Kleffner syndrome MONDO:0009509 Landau-Kleffner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200603 Rett syndrome MONDO:0010726 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200604 Typical Rett syndrome MONDO:0010726 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200605 Atypical Rett syndrome MONDO:0017746 atypical Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200606 Sturge-Weber syndrome MONDO:0008501 Sturge-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200607 Tuberous sclerosis complex MONDO:0001734 tuberous sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200607 Tuberous sclerosis complex MONDO:0019341 obsolete tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200608 Xeroderma pigmentosum MONDO:0019600 xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200609 Congenital ichthyosis MONDO:0015947 inherited ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200610 Keratinopathic ichthyosis MONDO:0017266 keratinopathic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200611 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 autosomal dominant epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200612 Autosomal recessive epidermolytic ichthyosis MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200613 Superficial epidermolytic ichthyosis MONDO:0007813 superficial epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200614 Harlequin ichthyosis MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200616 Congenital ichthyosiform erythroderma MONDO:0019306 congenital non-bullous ichthyosiform erythroderma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200617 Lamellar ichthyosis MONDO:0017778 lamellar ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200617 Lamellar ichthyosis MONDO:0019306 congenital non-bullous ichthyosiform erythroderma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200618 Ichthyosis syndrome MONDO:0019269 ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200619 Netherton syndrome MONDO:0009735 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200620 Sjögren-Larsson syndrome MONDO:0010031 Sjogren-Larsson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200621 Keratitis-ichthyosis-deafness syndrome MONDO:0018781 KID syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200622 Dorfman-Chanarin syndrome MONDO:0010155 Dorfman-Chanarin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200622 Dorfman-Chanarin syndrome MONDO:0015611 neutral lipid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200623 Neutral lipid storage disease with ichthyosis MONDO:0010155 Dorfman-Chanarin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200624 Multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200625 Recessive X-linked ichtyosis MONDO:0010622 recessive X-linked ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature MONDO:0002470 photosensitive trichothiodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200627 Trichothiodystrophy MONDO:0018053 trichothiodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200628 Ichthyosis follicularis MONDO:0043094 ichthyosis, follicular MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200629 CHILD syndrome MONDO:0010621 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200630 Conradi Hünermann Happle syndrome MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200631 Benign familial pemphigus MONDO:0008218 Hailey-Hailey disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) MONDO:0019082 bullous pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200633 Bullous pemphigoid MONDO:0019082 bullous pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200634 Mucous membrane pemphigoid MONDO:0018746 mucous membrane pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200635 Epidermolysis bullosa acquisita MONDO:0018747 acquired epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200637 Oculocutaneous albinism MONDO:0018910 oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200638 Hermansky-Pudlak syndrome MONDO:0019312 Hermansky-Pudlak syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200639 Chédiak-Higashi syndrome MONDO:0008963 Chediak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200640 Griscelli syndrome MONDO:0018306 Griscelli syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200641 Non-syndromic oculocutaneous albinism MONDO:0018910 oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200642 Pachydermoperiostosis MONDO:0009799 obsolete pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200642 Pachydermoperiostosis MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200643 Pseudoxanthoma elasticum MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200644 Marfan syndrome MONDO:0007947 Marfan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200645 Ehlers-Danlos Syndrome MONDO:0020066 Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200646 Ehlers-Danlos syndrome, classical type MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200648 Ehlers-Danlos syndrome, vascular type MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200653 Menkes disease MONDO:0010651 Menkes disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200654 Occipital horn syndrome MONDO:0010572 occipital horn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200655 Wilson disease MONDO:0010200 Wilson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200656 Hypophosphatasia MONDO:0018570 hypophosphatasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200657 VATER syndrome MONDO:0008642 VACTERL/vater association MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200658 Nasu-Hakola disease MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200659 Weaver syndrome MONDO:0010193 Weaver syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200660 Coffin-Lowry syndrome MONDO:0010561 Coffin-Lowry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200661 Joubert syndrome and related disorders MONDO:0015369 Joubert syndrome and related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200662 Arima syndrome MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200663 Mowat-Wilson syndrome MONDO:0009341 Mowat-Wilson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200664 Williams syndrome MONDO:0008678 Williams syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200665 ATR-X syndrome MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200666 Crouzon's syndrome MONDO:0007405 Crouzon syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200667 Apert syndrome MONDO:0007041 Apert syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200668 Pfeiffer syndrome MONDO:0005810 infectious mononucleosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200668 Pfeiffer syndrome MONDO:0007043 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200669 Antley-Bixler syndrome MONDO:0008803 Antley-Bixler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200670 Coffin-Siris syndrome MONDO:0015452 Coffin-Siris syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200671 Rothmund-Thomson syndrome MONDO:0010002 Rothmund-Thomson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200672 Kabuki syndrome MONDO:0016512 Kabuki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200675 Branchio-oto-renal syndrome MONDO:0007029 branchio-oto-renal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200675 Branchio-oto-renal syndrome MONDO:0018878 branchiootic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200676 Werner syndrome MONDO:0010196 Werner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200677 Cockayne syndrome MONDO:0016006 Cockayne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200678 Prader-Willi syndrome MONDO:0008300 Prader-Willi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200679 Sotos syndrome MONDO:0019349 Sotos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200680 Noonan syndrome MONDO:0018997 Noonan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200681 Young-Simpson syndrome MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200682 1p36 deletion syndrome MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200683 4p deletion syndrome MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200684 5p deletion syndrome MONDO:0007404 Cri-du-chat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200685 Paternal uniparental disomy of chromosome 14 MONDO:0011975 paternal uniparental disomy of chromosome 14 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200686 Angelman syndrome MONDO:0007113 Angelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200687 Smith-Magenis syndrome MONDO:0008434 Smith-Magenis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200688 22q11.2 deletion syndrome MONDO:0008564 DiGeorge syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200688 22q11.2 deletion syndrome MONDO:0008644 velocardiofacial syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200688 22q11.2 deletion syndrome MONDO:0018923 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200689 Emanuel syndrome MONDO:0012176 Emanuel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200690 Fragile X syndrome related diseases MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200691 Fragile X tremor/ataxia syndrome MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200692 Fragile X syndrome MONDO:0010383 fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200693 Truncus arteriosus communis MONDO:0018072 persistent truncus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200698 Corrected transposition of great arteries MONDO:0019443 dextro-looped transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200699 Complete transposition of the great arteries MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200701 Complete transposition of the great arteries (Group2) MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200701 Complete transposition of the great arteries (Group2) MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200703 Complete transposition of the great arteries (Group4) MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200703 Complete transposition of the great arteries (Group4) MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200704 Single ventricle MONDO:0015451 univentricular heart MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200705 Hypoplastic left heart syndrome MONDO:0004933 hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200706 Tricuspid atresia MONDO:0011514 tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200707 Pulmonary atresia with intact ventricular septum MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200708 Pulmonary atresia with ventricular septal defect MONDO:0008343 pulmonary atresia with ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200709 Tetralogy of Fallot MONDO:0008542 tetralogy of fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200710 Double outlet right ventricle MONDO:0018089 double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200711 Ebstein's anomaly MONDO:0009144 Ebstein anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200712 Alport's syndrome MONDO:0018965 Alport syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200713 Galloway-Mowat syndrome MONDO:0009627 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200714 Rapidly progressive glomerulonephritis MONDO:0001645 crescentic glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200714 Rapidly progressive glomerulonephritis MONDO:0017236 rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis MONDO:0003136 anti-basement membrane glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis MONDO:0009303 anti-glomerular basement membrane disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200718 Goodpasture syndrome MONDO:0009303 anti-glomerular basement membrane disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200719 Primary nephrotic syndrome MONDO:0018170 idiopathic nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200720 Minimal change nephrotic syndrome MONDO:0006835 lipoid nephrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200721 Membranous nephropathy MONDO:0005376 membranous glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200722 Focal segmental glomerulosclerosis MONDO:0005363 inherited focal segmental glomerulosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200723 Crescentic glomerulonephritis MONDO:0001645 crescentic glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200723 Crescentic glomerulonephritis MONDO:0017236 rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200725 Primary membranoproliferative glomerulonephritis MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200726 Primary membranoproliferative glomerulonephritis type I MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I MONDO:0002461 membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200739 Primary membranoproliferative glomerulonephritis type II MONDO:0019736 dense deposit disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200741 Henoch-Schonlein purpura nephritis MONDO:0006785 obsolete Henoch-Schoenlein purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200742 Congenital nephrogenic diabetes insipidus MONDO:0016383 nephrogenic diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200743 Interstitial cystitis (Hunner type) MONDO:0018301 interstitial cystitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200744 Osler disease MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200745 Bronchiolitis obliterans MONDO:0015265 bronchiolitis obliterans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200746 Pulmonary alveolar proteinosis MONDO:0001437 pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200746 Pulmonary alveolar proteinosis MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200747 Autoimmune pulmonary alveolar proteinosis MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200748 Idiopathic pulmonary alveolar proteinosis MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis MONDO:0018483 secondary pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200750 Congenital alveolar proteinosis MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200751 Alveolar hypoventilation syndrome MONDO:0008346 pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200752 Obesity hypoventilation syndrome MONDO:0009763 obesity-hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200753 Congenital central hypoventilation syndrome MONDO:0008852 obsolete congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200755 Alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200756 Carney complex MONDO:0015285 Carney complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200757 Wolfram syndrome MONDO:0018105 Wolfram syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200758 Peroxisomal disorder MONDO:0019053 peroxisomal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200759 Peroxisome biogenesis disorders MONDO:0019234 peroxisome biogenesis disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200760 Zellweger syndrome MONDO:0019609 Zellweger spectrum disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200761 Neonatal adrenoleukodystrophy MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200762 Infantile Refsum disease MONDO:0019174 obsolete infantile Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency MONDO:0019233 disorder of peroxisomal beta oxidation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200766 D-bifunctional protein deficiency MONDO:0009855 d-bifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200767 Sterol carrier protein 2 deficiency MONDO:0013391 sterol carrier protein 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency MONDO:0013681 alpha-methylacyl-CoA racemase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200769 Refsum disease MONDO:0009958 adult Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency MONDO:0017986 disorder of plasmalogens biosynthesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200773 Primary hyperoxaluria type 1 MONDO:0009823 primary hyperoxaluria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200774 Acatalasemia MONDO:0013571 acatalasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200775 Hypoparathyroidism MONDO:0001220 hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200775 Hypoparathyroidism MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200776 Pseudohypoparathyroidism MONDO:0019992 pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia MONDO:0024300 hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200779 Vitamin D-resistant rickets MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200779 Vitamin D-resistant rickets MONDO:0010931 vitamin D-dependent rickets, type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200780 Vitamin D-resistant osteomalacia MONDO:0024300 hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia MONDO:0024299 vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200782 Vitamin D-dependent rickets, type 1 MONDO:0009924 vitamin D-dependent rickets, type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200783 Vitamin D-dependent rickets, type 2 MONDO:0019642 vitamin D-dependent rickets, type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200784 Phenylketonuria MONDO:0009861 phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200785 Phenylalanine hydroxylase deficiency MONDO:0009861 phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200786 Tetrahydrobiopterin deficiency MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200788 Tyrosinemia type 1 MONDO:0010161 tyrosinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200789 Tyrosinemia type 2 MONDO:0010160 tyrosinemia type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200790 Tyrosinemia type 3 MONDO:0010162 tyrosinemia type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200791 Maple syrup urine disease MONDO:0009563 maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200792 Propionic acidemia MONDO:0011628 propionic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200793 Methylmalonic acidemia MONDO:0002012 methylmalonic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200795 Methylmalonic acidemia cblA type MONDO:0009613 methylmalonic aciduria, cblA type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200796 Methylmalonic acidemia cblB type MONDO:0009614 methylmalonic aciduria, cblB type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200797 Methylmalonic acidemia CblD type MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200798 Isovaleric acidemia MONDO:0009475 isovaleric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200799 Glucose transporter 1 deficiency MONDO:0000188 GLUT1 deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200799 Glucose transporter 1 deficiency MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200800 Glutaric acidemia type 1 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200801 Glutaric acidemia type 2 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200802 Urea cycle disorder MONDO:0004739 urea cycle disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200803 Carbamoyl phosphate synthetase I deficiency MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200804 Ornithine transcarbamylase deficiency MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200805 Classic citrullinemia MONDO:0008988 citrullinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200806 Argininosuccinic aciduria MONDO:0008815 argininosuccinic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200807 Argininemia MONDO:0008814 hyperargininemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200808 NAGS deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200809 Lysinuric protein intolerance MONDO:0009109 lysinuric protein intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200810 Hereditary folate malabsorption MONDO:0009238 hereditary folate malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200811 Porphyria MONDO:0037939 porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200812 Acute intermittent porphyria MONDO:0008294 acute intermittent porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200813 Hereditary coproporphyria MONDO:0007369 hereditary coproporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200814 Variegate porphyria MONDO:0008297 variegate porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200815 Erythropoietic protoporphyria MONDO:0001676 erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200815 Erythropoietic protoporphyria MONDO:0008319 protoporphyria, erythropoietic, 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200815 Erythropoietic protoporphyria MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200816 Porphyria cutanea tarda MONDO:0015104 porphyria cutanea tarda MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200817 Congenital erythropoietic porphyria MONDO:0009902 cutaneous porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200818 X-linked dominant protoporphyria MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200819 Hepatoerythropoietic porphyria MONDO:0019799 hepatoerythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200820 Multiple carboxylase deficiency MONDO:0015454 multiple carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200821 Holocarboxylase synthetase deficiency MONDO:0009666 holocarboxylase synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200822 Biotinidase deficiency MONDO:0009665 biotinidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200823 Muscle glycogen storage disease MONDO:0009295 glycogen storage disease VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200823 Muscle glycogen storage disease MONDO:0016118 obsolete muscular glycogenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200824 Glycogen storage diseases type 0 MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200824 Glycogen storage diseases type 0 MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200825 Glycogen storage diseases type II MONDO:0009290 glycogen storage disease II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200826 Glycogen storage diseases type III MONDO:0009291 glycogen storage disease III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200827 Glycogen storage diseases type IV MONDO:0008222 Andersen-Tawil syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200827 Glycogen storage diseases type IV MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200828 Glycogen storage diseases type V MONDO:0009293 glycogen storage disease V MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200829 Glycogen storage diseases type VII MONDO:0009295 glycogen storage disease VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200830 Glycogen storage diseases type IXd MONDO:0010362 glycogen storage disease IXd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200831 Phosphoglycerate kinase deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200832 Glycogen storage diseases type X MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200833 Glycogen storage diseases type XI MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200834 Glycogen storage diseases type XII MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200835 Glycogen storage diseases type XIII MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200836 Glycogen storage diseases type XIV MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200837 Glycogen storage diseases type XV MONDO:0013291 glycogen storage disease XV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200838 Hepatic glycogen storage disease MONDO:0002412 disorder of glycogen metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200838 Hepatic glycogen storage disease MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200840 Hepatic glycogen storage disease type Ia MONDO:0002413 glycogen storage disease I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200841 Hepatic glycogen storage disease type Ib MONDO:0009288 glycogen storage disease Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200841 Hepatic glycogen storage disease type Ib MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200844 Hepatic GSD type IIIc MONDO:0009291 glycogen storage disease III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200846 Hepatic glycogen storage disease type VI MONDO:0009294 glycogen storage disease VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200847 Hepatic glycogen storage disease type IXa MONDO:0010598 glycogen storage disease IXa1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200848 Hepatic glycogen storage disease type IXb MONDO:0009868 glycogen storage disease IXb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200849 Hepatic glycogen storage disease type IXc MONDO:0013091 glycogen storage disease IXc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200850 Hepatic glycogen storage disease type IV MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency MONDO:0009258 classic galactosemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency MONDO:0009515 Norum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency MONDO:0018999 LCAT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200853 Sitosterolemia MONDO:0008863 sitosterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200854 Tangier disease MONDO:0008783 Tangier disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200856 Cerebrotendinous xanthomatosis MONDO:0008948 cerebrotendinous xanthomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200857 Abetalipoproteinemia MONDO:0008692 abetalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200858 Lipodystrophy MONDO:0006573 lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200859 Generalized congenital lipodystrophy MONDO:0006536 congenital generalized lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200859 Generalized congenital lipodystrophy MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200860 Acquired generalized lipodystrophy MONDO:0019193 acquired generalized lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200861 Familial partial lipodystrophy MONDO:0020088 familial partial lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200862 Acquired partial lipodystrophy MONDO:0012104 acquired partial lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200863 Familial Mediterranean fever MONDO:0018088 familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200864 Typical familial Mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200866 Hyper IgD syndrome MONDO:0009849 hyperimmunoglobulinemia D with periodic fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200866 Hyper IgD syndrome MONDO:0012481 mevalonic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200867 Nakajo-Nishimura syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200869 Chronic recurrent multifocal osteomyelitis MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200870 Ankylosing spondylitis MONDO:0005306 ankylosing spondylitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200871 Fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200871 Fibrodysplasia ossificans progressiva MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200873 Osteogenesis imperfecta MONDO:0019019 osteogenesis imperfecta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200874 Thanatophoric dysplasia MONDO:0017042 thanatophoric dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200875 Thanatophoric dysplasia type 1 MONDO:0008546 thanatophoric dysplasia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200876 Thanatophoric dysplasia type 2 MONDO:0008547 thanatophoric dysplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200877 Achondroplasia MONDO:0007037 Achondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease MONDO:0003157 disappearing bone disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease MONDO:0007414 Gorham-Stout disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200879 obsolete Lymphangiomatosis MONDO:0015408 diffuse lymphatic malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200880 obsolete Gorham disease MONDO:0003157 disappearing bone disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200880 obsolete Gorham disease MONDO:0007414 Gorham-Stout disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) MONDO:0016233 obsolete rare lymphatic system malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) MONDO:0019328 macrocystic lymphatic malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200884 Klippel-Trenaunay-Weber syndrome MONDO:0007864 angioosteohypertrophic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200885 Congenital dyserythropoietic anemia MONDO:0019403 congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200886 Congenital dyserythropoietic anemia type I MONDO:0020337 congenital dyserythropoietic anemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200887 Congenital dyserythropoietic anemia type II MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200888 Congenital dyserythropoietic anemia type III MONDO:0007109 congenital dyserythropoietic anemia type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200889 Acquired pure red cell aplasia MONDO:0020338 adult pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200890 Diamond-Blackfan anemia MONDO:0015253 Diamond-Blackfan anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200891 Fanconi anemia MONDO:0019391 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200892 Hereditary sideroblastic anemia MONDO:0020099 inherited sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200893 Epstein syndrome MONDO:0007954 obsolete May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200896 Autoimmune acquired coagulation factor deficiency MONDO:0020599 acquired coagulation factor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 MONDO:0021133 acquired factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200898 Acquired hemophilia A MONDO:0019139 acquired hemophilia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200899 Acquired von Willebrand disease MONDO:0020460 acquired von willebrand syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200901 Cronkhite-Canada syndrome MONDO:0008283 Cronkhite-Canada syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200903 Hirschsprung disease MONDO:0018309 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200909 Cloacal exstrophy MONDO:0009774 cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200910 Persistent cloaca MONDO:0009774 cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200911 Congenital diaphragmatic hernia MONDO:0005711 congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200913 Biliary atresia MONDO:0008867 biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200913 Biliary atresia MONDO:0028737 obsolete biliary atresia disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200918 Alagille syndrome MONDO:0007318 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200919 Typical Alagille syndrome MONDO:0007318 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200921 Hereditary pancreatitis MONDO:0008185 hereditary chronic pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200922 Cystic fibrosis MONDO:0009061 cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200923 IgG4-related disease MONDO:0017287 IgG4-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200924 IgG4-related disease MONDO:0017287 IgG4-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200925 Autoimmune pancreatitis MONDO:0015175 autoimmune pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200928 IgG4-related sclerosing cholangitis MONDO:0018645 IgG4-related sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200930 IgG4-related kidney disease MONDO:0018671 IgG4-related kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200931 Macular dystrophy MONDO:0020242 hereditary macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200932 Vitelliform macular dystrophy MONDO:0000390 vitelliform macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200933 Stargardt disease MONDO:0019353 Stargardt disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200934 Occult macular dystrophy MONDO:0013316 occult macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200936 Cone dystrophy MONDO:0000455 cone dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200937 Cone-rod dystrophy MONDO:0015993 cone-rod dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200938 X-linked juvenile retinoschisis MONDO:0010725 X-linked retinoschisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200939 Central areolar choroidal dystrophy MONDO:0004890 partial central choroid dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200939 Central areolar choroidal dystrophy MONDO:0008982 central areolar choroidal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200940 Leber hereditary optic neuropathy MONDO:0010788 Leber hereditary optic neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200941 Usher syndrome MONDO:0019501 Usher syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200942 Usher syndrome type I MONDO:0010168 Usher syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200943 Usher syndrome Type II MONDO:0016484 Usher syndrome type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200944 Usher syndrome Type III MONDO:0016485 Usher syndrome type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200948 Canavan disease MONDO:0010079 Canavan disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200951 Vanishing white matter disease MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200953 Progressive myoclonus epilepsy MONDO:0020074 progressive myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200954 Unverricht-Lundborg disease MONDO:0009698 Unverricht-Lundborg syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200955 Lafora disease MONDO:0009697 Lafora disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200956 Benign adult familial myoclonus epilepsy MONDO:0019448 benign adult familial myoclonic epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200957 Congenital anomalies syndrome MONDO:0000839 obsolete congenital abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200958 Partial trisomy 1q MONDO:0016952 partial duplication of the long arm of chromosome 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200959 9q34 deletion syndrome MONDO:0012455 Kleefstra syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200960 Cornelia de lange syndrome MONDO:0016033 Cornelia de Lange syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200961 Smith-lemli-opitz syndrome MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200962 Congenital tricuspid stenosis MONDO:0011514 tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200962 Congenital tricuspid stenosis MONDO:0019813 congenital tricuspid stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200963 Congenital mitral stenosis MONDO:0005852 mitral valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200963 Congenital mitral stenosis MONDO:0020398 congenital mitral stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200964 Congenital pulmonary vein stenosis MONDO:0017864 congenital pulmonary veins atresia or stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200967 Nail-patella syndrome MONDO:0008061 nail-patella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200969 Carnitine cycle disorders MONDO:0017716 disorder of carnitine cycle and carnitine transport MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200970 Carnitine palmitoyltransferase I deficiency MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200971 Carnitine palmitoyltransferase II deficiency MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200972 Carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200973 Systemic primary carnitine deficiency MONDO:0008919 systemic primary carnitine deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200974 Trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200978 Citrin deficiency MONDO:0016602 citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200980 Adult-onset type II citrullinemia MONDO:0011326 citrullinemia, type II, adult-onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200980 Adult-onset type II citrullinemia MONDO:0016603 citrullinemia type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200982 Sepiapterin reductase deficiency MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200984 Nonketotic hyperglycinemia MONDO:0011612 glycine encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200985 Neonatal nonketotic hyperglycinemia MONDO:0017353 neonatal glycine encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200986 Infantile nonketotic hyperglycinemia MONDO:0017354 infantile glycine encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200987 Beta-ketothiolase deficiency MONDO:0008760 beta-ketothiolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200989 Methylglutaconic aciduria MONDO:0017359 3-methylglutaconic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200990 3-methylglutaconic aciduria type I MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200991 3-methylglutaconicaciduria type II MONDO:0010543 Barth syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200992 3-methylglutaconic aciduria type III MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200994 NLRC4 mutation MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200995 Adenosine deaminase 2 deficiency MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200996 Aicardi-Goutières Syndrome MONDO:0018866 Aicardi-Goutieres syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200997 A20 haploinsufficiency MONDO:0100222 A20 haploinsufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1200998 Osteopetrosis MONDO:0017198 osteopetrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201000 Anterior segment dysgenesis MONDO:0019503 anterior segment dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201001 Aniridia MONDO:0019172 aniridia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201003 Congenital tracheal stenosis MONDO:0011340 congenital tracheal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201004 Congenital subglottic stenosis MONDO:0015395 congenital subglottic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201006 Gelatinous drop-like corneal dystrophy MONDO:0008777 gelatinous drop-like corneal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201007 Hutchinson-Gilford syndrome MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201009 Systemic granulomatosis with polyangiitis MONDO:0012105 granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201010 Diffuse cutaneous systemic sclerosis MONDO:0016356 diffuse cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201011 Limited cutaneous systemic sclerosis MONDO:0016358 limited cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201011 Limited cutaneous systemic sclerosis MONDO:0019563 CREST syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201018 Hepatic glycogen storage disease type I MONDO:0002413 glycogen storage disease I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201019 Hepatic glycogen storage disease type III MONDO:0009291 glycogen storage disease III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201020 Hepatic glycogen storage disease type IX MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201021 Cystic fibrosis MONDO:0009061 cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201029 Mesangial proliferative glomerulonephritis MONDO:0003139 mesangial proliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201032 Cerebral creatine deficiency syndromes MONDO:0000456 cerebral creatine deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201033 Arginine:glycine amidinotransferase deficiency MONDO:0012996 AGAT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201034 Guanidinoacetate methyltransferase deficiency MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201035 Creatine transporter deficiency MONDO:0010305 creatine transporter deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201036 Nephronophthisis MONDO:0009728 nephronophthisis 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201036 Nephronophthisis MONDO:0019005 nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 MONDO:0014252 familial hypobetalipoproteinemia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201038 Homocystinuria MONDO:0004737 homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201039 Homocystinuria type 1 MONDO:0009352 classic homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201040 Homocystinuria type 2 MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201041 Homocystinuria type 3 MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201042 Progressive familial intrahepatic cholestasis MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201048 Acquired factor X inhibitor MONDO:0021134 acquired factor X deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201049 Senior-Loken syndrome MONDO:0017842 Senior-Loken syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201050 COACH syndrome MONDO:0008996 obsolete COACH syndrome 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201051 Oral-facial-digital syndrome MONDO:0015375 orofaciodigital syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201056 End-plate acetylcholine esterase deficiency MONDO:0011281 congenital myasthenic syndrome 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea MONDO:0009689 congenital myasthenic syndrome 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201058 RAPADILINO syndrome MONDO:0009955 rapadilino syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201059 Baller-Gerold syndrome MONDO:0009039 Baller-Gerold syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201060 Familial amyloid polyneuropathy type 1 MONDO:0007100 familial amyloid neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201062 Familial amyloid polyneuropathy type 3 MONDO:0019731 AApoAI amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201063 Familial amyloid polyneuropathy type 4 MONDO:0007097 Finnish type amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201064 Kearns-Sayre syndrome MONDO:0010787 Kearns-Sayre syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201065 Herlitz junctional epidermolysis bullosa MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201068 Agyria MONDO:0015146 classic lissencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201068 Agyria MONDO:0022402 agyria-pachygyria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201069 Pachygyria MONDO:0015146 classic lissencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201069 Pachygyria MONDO:0022402 agyria-pachygyria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201070 Subcortical band heterotopia MONDO:0020491 subcortical band heterotopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201071 Polymicrogyria MONDO:0000087 polymicrogyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201072 Cobblestone brain malformation MONDO:0018869 cobblestone lissencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201073 Schizencephaly MONDO:0010011 schizencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201074 Porencephaly MONDO:0017410 porencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201075 Pseudohypoparathyroidism type 1A MONDO:0007078 Pseudohypoparathyroidism type 1A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201076 Pseudohypoparathyroidism type 1B MONDO:0011301 pseudohypoparathyroidism type 1B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201077 Pseudohypoparathyroidism type 1C MONDO:0012911 pseudohypoparathyroidism type 1C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201078 Pseudohypoparathyroidism type 2 MONDO:0008749 pseudohypoparathyroidism type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201079 Periventricular nodular heterotopia MONDO:0020341 periventricular nodular heterotopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201080 Protein C deficiency MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201081 Protein S deficiency MONDO:0002304 protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:1201083 Miller Dieker syndrome MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100002 Leukemia MONDO:0004355 childhood leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100002 Leukemia MONDO:0005059 leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100003 Myelodysplastic syndrome MONDO:0018881 myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100003 Myelodysplastic syndrome MONDO:0044873 childhood myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100004 Lymphoma MONDO:0003659 pediatric lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100004 Lymphoma MONDO:0003660 adult lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100004 Lymphoma MONDO:0005062 lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100005 Histiocytosis MONDO:0002637 histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100007 Central nervous system tumors MONDO:0002714 central nervous system cancer MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100008 Chronic kidney disease MONDO:0005300 chronic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100009 Nephrotic syndrome MONDO:0005377 nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100012 Chronic pyelonephritis MONDO:0001110 chronic pyelonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100014 Familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100015 Nephronophthisis MONDO:0019005 nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100016 Renovascular hypertension MONDO:0001105 renal hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100016 Renovascular hypertension MONDO:0006947 renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100019 Renal tubular acidosis MONDO:0001909 renal tubular acidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100020 Gitelman syndrome MONDO:0009904 Gitelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100021 Bartter syndrome MONDO:0015231 Bartter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100023 Chronic renal failure MONDO:0005300 chronic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100023 Chronic renal failure MONDO:0024327 chronic renal failure syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100027 Fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100028 Lowe syndrome MONDO:0010645 oculocerebrorenal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100031 Bronchial asthma MONDO:0010940 inherited susceptibility to asthma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100032 Congenital central hypoventilation syndrome MONDO:0008852 obsolete congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100034 Primary ciliary dyskinesia MONDO:0016575 primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100035 Cystic fibrosis MONDO:0009061 cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100036 Bronchiectasis MONDO:0004822 bronchiectasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100037 Idiopathic pulmonary hemosiderosis MONDO:0008346 pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100039 Bronchiolitis obliterans MONDO:0015265 bronchiolitis obliterans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100040 Congenital diaphragmatic hernia MONDO:0005711 congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100043 Sick sinus syndrome MONDO:0001823 sick sinus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100044 Mobitz type II second degree atrioventricular block MONDO:0001261 Mobitz type II atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100046 Bundle branch block MONDO:0020803 obsolete bundle branch block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100049 Ventricular tachycardia MONDO:0005477 ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100050 Atrial flutter MONDO:0005310 atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100051 Atrial fibrillation MONDO:0004981 atrial fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100052 Ventricular fibrillation MONDO:0000190 ventricular fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100053 Long QT syndrome MONDO:0002442 long QT syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100054 Hypertrophic cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100057 Dilated cardiomyopathy MONDO:0005021 dilated cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100058 Restrictive cardiomyopathy MONDO:0005201 restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100060 Endocardial fibroelastosis MONDO:0009169 endocardial fibroelastosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100061 Cardiac tumor MONDO:0021209 heart neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100064 Constrictive pericarditis MONDO:0006711 constrictive pericarditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100070 Ischemic heart disease MONDO:0024644 myocardial ischemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100071 Hypoplastic left heart syndrome MONDO:0004933 hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100073 Tricuspid atresia MONDO:0011514 tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100075 Tetralogy of Fallot MONDO:0008542 tetralogy of fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100076 Double outlet right ventricle MONDO:0018089 double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100077 Double-outlet left ventricle MONDO:0018090 double outlet left ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100079 Congenitally corrected transposition of the great arteries MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100080 Ebstein's anomaly MONDO:0009144 Ebstein anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100082 Aorto-pulmonary window MONDO:0021902 aortopulmonary window MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100083 Cor triatriatum MONDO:0015450 triatrial heart MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100084 Patent ductus arteriosus MONDO:0011827 patent ductus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100085 Atrial septal defect MONDO:0006664 atrial septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100086 Complete atrioventricular septal defect MONDO:0015273 complete atrioventricular canal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100087 Ventricular septal defect MONDO:0002070 ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100090 Left ventricular-right atrial communication MONDO:0020428 congenital Gerbode defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100092 Subvalvular pulmonary stenosis MONDO:0006935 pulmonary subvalvular stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100093 Subvalvular aortic stenosis MONDO:0006987 subvalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100095 Absent pulmonary valve MONDO:0020064 pulmonary valve agenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100098 Aortic stenosis MONDO:0004978 obsolete aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100101 Aortic aneurysm MONDO:0005160 aortic aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100103 Pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100105 Valvular heart disease MONDO:0002869 heart valve disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100109 Endocrine disease MONDO:0005151 endocrine system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100110 Hypopituitarism MONDO:0005152 hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100111 Pituitary gigantism MONDO:0020479 pituitary gigantism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100112 Acromegaly MONDO:0019933 acromegaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100114 Growth hormone insensitivity MONDO:0015892 growth hormone insensitivity syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100115 Hyperprolactinemia MONDO:0005804 hyperprolactinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:0006802 inappropriate ADH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100117 Diabetes insipidus MONDO:0004782 diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100119 Hyperthyroidism MONDO:0004425 hyperthyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100120 Hypothyroidism MONDO:0005420 hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100121 Resistance to thyroid hormone MONDO:0001328 thyroid hormone resistance syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100121 Resistance to thyroid hormone MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100123 Hyperparathyroidism MONDO:0001741 hyperparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100124 Hypoparathyroidism MONDO:0001220 hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100124 Hypoparathyroidism MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100125 Autoimmune polyendocrinopathy MONDO:0017278 autoimmune polyendocrinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100126 Pseudohypoparathyroidism MONDO:0019992 pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100130 Apparent mineralocorticoid excess syndrome MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100130 Apparent mineralocorticoid excess syndrome MONDO:0009025 apparent mineralocorticoid excess MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100131 Liddle syndrome MONDO:0008323 Liddle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100132 Hypoaldosteronism MONDO:0015900 hypoaldosteronism disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100133 Pseudohypoaldosteronism MONDO:0018638 pseudohypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100134 Congenital adrenal hyperplasia MONDO:0018479 congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100135 Precocious puberty MONDO:0000088 precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100138 Hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100139 Hypergonadotropic hypogonadism MONDO:0005387 primary ovarian failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100140 Disorders of sex development MONDO:0002145 disorder of sexual differentiation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100142 Glucagonoma MONDO:0019959 glucagonoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100143 Hyperinsulinemic hypoglycemia MONDO:0005803 hyperinsulinemic hypoglycemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100143 Hyperinsulinemic hypoglycemia MONDO:0017182 familial hyperinsulinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100144 Vitamin D-dependent rickets MONDO:0024299 vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100147 Lipodystrophy MONDO:0006573 lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100148 Multiple endocrine neoplasia MONDO:0017169 multiple endocrine neoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100149 Polycystic ovary syndrome MONDO:0008487 polycystic ovary syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100151 Collagen disease MONDO:0005554 rheumatic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100152 Collagen disease MONDO:0005554 rheumatic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100154 Relapsing Polychondritis MONDO:0019125 relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100156 Autoinflammatory disease MONDO:0019751 autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100157 Diabetes MONDO:0005015 diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100158 Diabetes MONDO:0005015 diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100159 Inborn errors of metabolism MONDO:0019052 inborn errors of metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100160 Disorder of amino acid metabolism MONDO:0037871 amino acid metabolism disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100161 Disorder of organic acid metabolism MONDO:0045022 disorder of organic acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100162 Disorder of fatty-acid metabolism MONDO:0037858 inherited fatty acid metabolism disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100163 Mitochondrial diseases MONDO:0004069 inborn mitochondrial metabolism disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100163 Mitochondrial diseases MONDO:0044970 mitochondrial disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100164 Disorder of carbohydrate metabolism MONDO:0019214 inborn carbohydrate metabolic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100164 Disorder of carbohydrate metabolism MONDO:0037792 carbohydrate metabolism disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100165 Lysosomal storage disease MONDO:0002561 lysosomal storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100166 Peroxisomal disorder MONDO:0019053 peroxisomal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100172 Connective tissue disorder MONDO:0003900 connective tissue disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100174 Alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100175 Blood disease MONDO:0005570 hematologic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100176 Megaloblastic anemia MONDO:0001700 megaloblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100177 Pure red cell aplasia MONDO:0001705 pure red-cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100178 Congenital dyserythropoietic anemia MONDO:0019403 congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100179 Sideroblastic anemia MONDO:0015194 sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100180 Congenital atransferrinemia MONDO:0008846 atransferrinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100181 Autoimmune hemolytic anemia MONDO:0020108 autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100182 Paroxysmal nocturnal haemoglobinuria MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100183 Hereditary hemolytic anemia MONDO:0003689 familial hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100186 Polycythemia vera MONDO:0009891 acquired polycythemia vera MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100187 Familial polycythemia MONDO:0001115 familial polycythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100188 Thrombocytopenic purpura MONDO:0043768 thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100189 Thrombotic thrombocytopenic purpura MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100192 Cyclic thrombocytopenia MONDO:0008556 thrombocytopenia, cyclic MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100193 May-Hegglin anomaly MONDO:0007954 obsolete May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100194 Essential thrombocythemia MONDO:0005029 essential thrombocythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100197 Protein C deficiency MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100198 Protein S deficiency MONDO:0002304 protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100200 Myelofibrosis MONDO:0044903 myelofibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100201 Aplastic anemia MONDO:0015909 aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100202 Immune system disease MONDO:0005046 immune system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100203 Combined immunodeficiency MONDO:0015131 combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100203 Combined immunodeficiency MONDO:0018035 obsolete syndrome with combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100204 Immunodeficiency MONDO:0003778 inborn error of immunity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100204 Immunodeficiency MONDO:0021094 immunodeficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100212 Acquired immune deficiency syndrome MONDO:0012268 AIDS MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100213 Chronic graft-versus-host disease MONDO:0020547 chronic graft versus host disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100214 Neuromuscular disease MONDO:0019056 neuromuscular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100215 Myelomeningocele MONDO:0017069 spina bifida cystica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100215 Myelomeningocele MONDO:0019773 myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100216 Sacrococcygeal teratoma MONDO:0042727 sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100217 Brain malformation MONDO:0016054 cerebral malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100218 Joubert syndrome related disorders MONDO:0015369 Joubert syndrome and related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100219 Rett syndrome MONDO:0010726 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100220 Neurocutaneous syndrome MONDO:0042983 neurocutaneous syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100221 Progeroid syndromes MONDO:0015333 progeroid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100223 ATR-X syndrome MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100224 Fragile X syndrome MONDO:0010383 fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100226 Cerebral creatine deficiency syndromes MONDO:0000456 cerebral creatine deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100227 Craniosynostosis MONDO:0015469 craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100228 Moyamoya disease MONDO:0016820 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100229 Cerebral arteriovenous malformation MONDO:0007154 arteriovenous malformations of the brain MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100231 Spinal muscular atrophy MONDO:0001516 spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100231 Spinal muscular atrophy MONDO:0019079 proximal spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100233 Muscular dystrophy MONDO:0020121 muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100234 Congenital myopathy MONDO:0019952 congenital myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100235 Schwartz-Jampel syndrome MONDO:0009717 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100237 Progressive myoclonus epilepsy MONDO:0020074 progressive myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100238 Spinocerebellar degeneration MONDO:0000437 cerebellar ataxia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100239 Alternating hemiplegia of childhood MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100240 Dystonia musculorum deformans MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100241 Neurodegeneration with brain iron accumulation MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100242 Infantile bilateral striatal necrosis MONDO:0015518 infantile bilateral striatal necrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100244 Aicardi-Goutières Syndrome MONDO:0018866 Aicardi-Goutieres syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100245 Subacute sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100246 Rasmussen's encephalitis MONDO:0016019 Rasmussen subacute encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100248 Autoimmune encephalitis MONDO:0020640 autoimmune encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100250 Multiple sclerosis MONDO:0005301 multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:0007691 Guillain-Barre syndrome, familial MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100252 Myasthenia gravis MONDO:0009688 myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100255 Microvillus inclusion disease MONDO:0009635 microvillus inclusion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100256 Intestinal lymphangiectasia MONDO:0018178 intestinal lymphangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100257 Polyposis MONDO:0000147 polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100258 Cyclic vomiting syndrome MONDO:0010778 cyclic vomiting syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100259 Inflammatory bowel disease MONDO:0005265 inflammatory bowel disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100264 Autoimmune hepatitis MONDO:0016264 autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100265 Primary sclerosing cholangitis MONDO:0013433 primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100265 Primary sclerosing cholangitis MONDO:0018646 sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100267 Congenital hepatic fibrosis MONDO:0018840 isolated congenital hepatic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100268 Liver cirrhosis MONDO:0005155 cirrhosis of liver MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100272 Crigler-Najjar syndrome MONDO:0009044 Crigler-Najjar syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100274 Short bowel syndrome MONDO:0015183 short bowel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100279 Chromosome abnormality MONDO:0019040 chromosomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100280 Chromosome abnormality MONDO:0019040 chromosomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100281 Skin disease MONDO:0005093 skin disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100283 Congenital ichthyosis MONDO:0015947 inherited ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100284 Epidermolysis bullosa MONDO:0006541 epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100285 Pustular psoriasis MONDO:0022205 pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100286 Xeroderma pigmentosum MONDO:0019600 xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100287 von Recklinghausen's disease MONDO:0018975 neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100288 Pachydermoperiostosis MONDO:0009799 obsolete pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100288 Pachydermoperiostosis MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100290 Stevens-Johnson syndrome MONDO:0018229 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100291 Bone disease MONDO:0005381 bone disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100293 Bone disease MONDO:0005381 bone disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100294 Vascular disease MONDO:0005385 vascular disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100295 Vascular malformation MONDO:0024291 vascular malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100296 Hereditary hemorrhagic telangiectasia MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2100297 Kasabach-Merritt syndrome MONDO:0007708 Kasabach-Merritt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200001 B-cell precursor lymphoblastic leukemia MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200002 Mature B-cell lymphoblastic leukemia MONDO:0000872 B-cell childhood acute lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200003 T-cell lymphoblastic leukemia MONDO:0004963 T-cell acute lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200004 Acute myeloid leukemia with minimal differentiation MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200005 Acute myeloid leukemia without maturation MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200006 Acute myeloid leukemia with maturation MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200007 Acute promyelocytic leukemia MONDO:0012883 acute promyelocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200008 Acute monocytic leukemia MONDO:0000875 adult acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200008 Acute monocytic leukemia MONDO:0007896 acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200009 Acute monocytic leukemia MONDO:0000875 adult acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200009 Acute monocytic leukemia MONDO:0007896 acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200010 Acute erythremia MONDO:0017858 acute erythroid leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200011 Acute megakaryoblastic leukemia MONDO:0018872 acute megakaryoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200012 NK cell leukemia MONDO:0019470 aggressive NK-cell leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200013 Chronic myeloid leukemia MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200014 Chronic myelomonocytic leukemia MONDO:0011908 juvenile myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200014 Chronic myelomonocytic leukemia MONDO:0020311 chronic myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200015 Juvenile myelomonocytic leukemia MONDO:0011908 juvenile myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200017 Acute undifferentiated leukemia MONDO:0019460 acute leukemia of ambiguous lineage MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200017 Acute undifferentiated leukemia MONDO:0020321 acute undifferentiated leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200018 Mixed phenotype acute leukemia MONDO:0019460 acute leukemia of ambiguous lineage MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200018 Mixed phenotype acute leukemia MONDO:0020743 mixed phenotype acute leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200019 Myelodysplastic syndrome MONDO:0018881 myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200019 Myelodysplastic syndrome MONDO:0044873 childhood myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200020 Mature B-cell lymphoma MONDO:0015759 B-cell non-Hodgkin lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200021 Anaplastic large cell lymphoma MONDO:0020325 anaplastic large cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200022 Precursor B lymphoblastic lymphoma MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200023 Precursor T lymphoblastic lymphoma MONDO:0044917 T-lymphoblastic lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200024 Hodgkin lymphoma MONDO:0004952 Hodgkins lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200029 Angioimmunoblastic T-cell lymphoma MONDO:0004977 angioimmunoblastic T-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200031 Langerhans cell histiocytosis MONDO:0017025 Langerhans cell histiocytosis specific to childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200031 Langerhans cell histiocytosis MONDO:0017029 Langerhans cell histiocytosis specific to adulthood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200031 Langerhans cell histiocytosis MONDO:0018310 Langerhans cell histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200032 Hemophagocytic lymphohistiocytosis MONDO:0015540 hemophagocytic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200034 Follicular dendritic cell sarcoma MONDO:0005764 follicular dendritic cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200035 Interdigitating dendritic cell sarcoma MONDO:0005813 interdigitating dendritic cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200036 Langerhans cell sarcoma MONDO:0019480 Langerhans cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200037 Juvenile xanthogranuloma MONDO:0015534 juvenile xanthogranuloma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200038 Erdheim-Chester disease MONDO:0018153 Erdheim-Chester disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200039 Rosai-Dorfman disease MONDO:0006412 sinus histiocytosis with massive lymphadenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200039 Rosai-Dorfman disease MONDO:0044354 obsolete Rosai-Dorfman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200040 Neuroblastoma MONDO:0005072 neuroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200041 Ganglioneuroblastoma MONDO:0005035 ganglioneuroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200042 Retinoblastoma MONDO:0008380 retinoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200043 Wilms tumour MONDO:0019004 kidney Wilms tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200044 Clear cell sarcoma of the kidney MONDO:0005006 clear cell sarcoma of kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200045 Renal cell carcinoma MONDO:0005086 renal cell carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200045 Renal cell carcinoma MONDO:0005549 renal cell adenocarcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200046 Hepatoblastoma MONDO:0018666 hepatoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200047 Hepatocellular carcinoma MONDO:0007256 hepatocellular carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200048 Osteosarcoma MONDO:0002623 pediatric osteosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200048 Osteosarcoma MONDO:0009807 osteosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200049 Osteochondromatosis MONDO:0005508 hereditary multiple osteochondromas MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200049 Osteochondromatosis MONDO:0008145 Ollier disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200050 Chondrosarcoma MONDO:0008977 chondrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200051 Chondroblastoma MONDO:0004997 chondroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200052 Malignancy in giant cell tumour of bone MONDO:0006287 malignancy in giant cell tumor of bone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200053 Ewing's sarcoma MONDO:0012817 Ewing sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200054 Primitive neuroectodermal tumors MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200055 Peripheral primitive neuroectodermal tumors MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200056 Rhabdomyosarcoma MONDO:0005212 rhabdomyosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200057 Malignant rhabdoid tumour MONDO:0002728 rhabdoid tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200058 Undifferentiated sarcoma MONDO:0005102 undifferentiated (embryonal) sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200059 Desmoplastic small round cell tumors MONDO:0019373 desmoplastic small round cell tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200060 Fibrosarcoma MONDO:0002676 adult fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200060 Fibrosarcoma MONDO:0002678 pediatric fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200060 Fibrosarcoma MONDO:0005164 fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200061 Synovial sarcoma MONDO:0010434 synovial sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200062 Clear cell sarcoma MONDO:0002926 clear cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200063 Alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200064 Leiomyosarcoma MONDO:0005058 leiomyosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200065 Liposarcoma MONDO:0003585 adult liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200065 Liposarcoma MONDO:0003587 pediatric liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200065 Liposarcoma MONDO:0005060 liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200066 Dysgerminoma MONDO:0003002 dysgerminoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200067 Embryonal carcinoma MONDO:0005440 embryonal carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200068 Polyembryoma MONDO:0015863 polyembryoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200069 Yolk sac tumour MONDO:0003759 childhood ovarian yolk sac tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200069 Yolk sac tumour MONDO:0005744 yolk sac tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200070 Choriocarcinoma MONDO:0005207 choriocarcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200071 Mixed germ cell tumour MONDO:0015864 mixed germ cell tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200072 Sex-cord stromal tumour MONDO:0006055 sex cord-stromal tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200073 Adrenocortical carcinoma MONDO:0006639 adrenal cortex carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200074 Thyroid cancer MONDO:0002108 thyroid cancer MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200074 Thyroid cancer MONDO:0015075 thyroid gland carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200076 Salivary grand carcinoma MONDO:0000521 salivary gland carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200077 Malignant melanoma MONDO:0005105 melanoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200078 Pheochromocytoma MONDO:0004974 adrenal gland pheochromocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200079 Malignant thymoma MONDO:0006451 thymic carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200080 Pleuropulmonaryblastoma MONDO:0011014 pleuropulmonary blastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200081 Bronchial tumour MONDO:0002807 bronchial neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200082 Pancreatoblastoma MONDO:0019035 pancreatoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200084 Pilocytic astrocytoma MONDO:0004000 childhood pilocytic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200084 Pilocytic astrocytoma MONDO:0016691 pilocytic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200085 Diffuse astrocytoma MONDO:0016686 diffuse astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200086 Anaplastic astrocytoma MONDO:0016684 anaplastic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200087 Glioblastoma MONDO:0018177 glioblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200087 Glioblastoma MONDO:0020690 adult glioblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200088 Ependymoma MONDO:0016698 ependymoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200089 Oligodendroglioma MONDO:0002540 childhood oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200089 Oligodendroglioma MONDO:0002543 adult oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200089 Oligodendroglioma MONDO:0016695 oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200090 Medulloblastoma MONDO:0002794 adult medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200090 Medulloblastoma MONDO:0002797 childhood medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200090 Medulloblastoma MONDO:0007959 medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200091 Craniopharyngioma MONDO:0018907 craniopharyngioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200092 Pineocytoma MONDO:0016723 pineocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200093 Choroid plexus papilloma MONDO:0009837 choroid plexus papilloma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200094 Meningioma MONDO:0003057 pediatric meningioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200094 Meningioma MONDO:0016642 meningioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200095 Pituitary adenoma MONDO:0006373 pituitary gland adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200096 Ganglioglioma MONDO:0016733 ganglioglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200097 Gangliocytoma MONDO:0016730 gangliocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200098 Chordoma MONDO:0008978 chordoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system MONDO:0000640 central nervous system primitive neuroectodermal neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system MONDO:0000640 central nervous system primitive neuroectodermal neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200101 Atypical teratoid, rhabdoid tumour MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200102 Malignant neurinoma MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200103 Neurinoma MONDO:0002546 schwannoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200104 Teratoma of the central nervous system MONDO:0002718 central nervous system teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200105 Mature teratoma MONDO:0003517 mature teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200106 Immature teratoma MONDO:0024746 immature teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200107 Teratoma with malignant transformation MONDO:0006444 teratoma with malignant transformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200108 Intracranial germ cell tumour MONDO:0004218 childhood germ cell brain tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200110 Congenital nephrotic syndrome of the Finnish type MONDO:0009732 congenital nephrotic syndrome, Finnish type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200111 Diffuse mesangial sclerosis MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200112 Minimal change nephrotic syndrome MONDO:0006835 lipoid nephrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200113 Focal segmental glomerulosclerosis MONDO:0005363 inherited focal segmental glomerulosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200114 Membranous nephropathy MONDO:0005376 membranous glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200116 Denys-Drash syndrome MONDO:0008682 Denys-Drash syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200117 Pierson syndrome MONDO:0012184 Pierson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200118 Central nervous system malformation syndrome MONDO:0020022 central nervous system malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200119 Herlitz junctional epidermolysis bullosa MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200120 Galloway-Mowat syndrome MONDO:0009627 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200121 IgA nephropathy MONDO:0005342 IgA glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200122 Mesangial proliferative glomerulonephritis MONDO:0003139 mesangial proliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200123 Membranoproliferative glomerulonephritis MONDO:0002461 membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200123 Membranoproliferative glomerulonephritis MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200125 Goodpasture syndrome MONDO:0009303 anti-glomerular basement membrane disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200126 Alport syndrome MONDO:0018965 Alport syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200127 Epstein syndrome MONDO:0007954 obsolete May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200128 Lupus nephritis MONDO:0005556 lupus nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200131 Atypical hemolytic uremic syndrome MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200132 Nail-patella syndrome MONDO:0008061 nail-patella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy MONDO:0007671 fibronectin glomerulopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200134 Lipoprotein glomerulopathy MONDO:0012725 lipoprotein glomerulopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200136 Tubulointerstitial nephritis MONDO:0001085 interstitial nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200137 Chronic pyelonephritis MONDO:0001110 chronic pyelonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200138 Amyloid nephropathy MONDO:0007099 familial visceral amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200138 Amyloid nephropathy MONDO:0019065 amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200139 Familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200140 Nephronophthisis MONDO:0009728 nephronophthisis 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200140 Nephronophthisis MONDO:0019005 nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200141 Renovascular hypertension MONDO:0001105 renal hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200141 Renovascular hypertension MONDO:0006947 renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200144 Renal tubular acidosis MONDO:0001909 renal tubular acidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200145 Gitelman syndrome MONDO:0009904 Gitelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200146 Bartter syndrome MONDO:0015231 Bartter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200152 Polycystic kidney disease MONDO:0020642 polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200153 Autosomal dominant polycystic kidney disease MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200154 Autosomal recessive polycystic kidney disease MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200155 Hypoplastic kidney MONDO:0019637 renal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200156 Renal aplasia MONDO:0018470 renal agenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200157 Potter syndrome MONDO:0001558 Potter sequence MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200158 Multicystic dysplastic kidney MONDO:0015988 multicystic dysplastic kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200159 Oligomeganephronia MONDO:0016407 oligomeganephronia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200161 Renal dysplasia MONDO:0019638 renal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200170 Medullary cystic kidney MONDO:0019005 nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200171 Multilocular cysts of the kidney MONDO:0019983 multiloculated renal cyst MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200172 Simple renal cyst MONDO:0002473 cystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200173 Medullary sponge kidney MONDO:0015268 medullary sponge kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200176 Ureteropelvic junction obstruction MONDO:0007741 congenital hydronephrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200177 Megacalycosis MONDO:0019639 congenital megacalycosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200178 Obstructive uropathy MONDO:0003330 urinary tract obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200179 Vesicoureteral reflux MONDO:0006007 vesicoureteral reflux MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200183 Ureteroceles MONDO:0008628 ureterocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200184 Megaureter MONDO:0018960 congenital primary megaureter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200185 Prune belly syndrome MONDO:0007032 prune belly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200187 Fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200188 Lowe syndrome MONDO:0010645 oculocerebrorenal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200190 Laryngeal stenosis MONDO:0007879 larynx atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200190 Laryngeal stenosis MONDO:0015395 congenital subglottic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200194 Tracheal stenosis MONDO:0002568 tracheal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200195 Tracheomalacia MONDO:0019804 tracheomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200197 Bronchial asthma MONDO:0010940 inherited susceptibility to asthma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200198 Congenital central hypoventilation syndrome MONDO:0008852 obsolete congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200199 Idiopathic interstitial pneumonia MONDO:0002429 idiopathic interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200200 Congenital alveolar proteinosis MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200202 Pulmonary alveolar microlithiasis MONDO:0009928 pulmonary alveolar microlithiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200203 Primary ciliary dyskinesia MONDO:0016575 primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200204 Kartagener syndrome MONDO:0016575 primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200205 Cystic fibrosis MONDO:0009061 cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200206 Bronchiectasis MONDO:0004822 bronchiectasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200207 Idiopathic pulmonary hemosiderosis MONDO:0008346 pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200209 Bronchiolitis obliterans MONDO:0015265 bronchiolitis obliterans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200210 Congenital diaphragmatic hernia MONDO:0005711 congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200212 Sick sinus syndrome MONDO:0001823 sick sinus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200213 Mobitz type II second degree atrioventricular block MONDO:0001261 Mobitz type II atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200214 Complete atrio-ventricular block MONDO:0000468 third-degree atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200214 Complete atrio-ventricular block MONDO:0009326 congenital heart block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200215 Bundle branch block MONDO:0020803 obsolete bundle branch block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200216 Polymorphic ventricular premature beat MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200217 Supraventricular tachycardia due to WPW syndrome MONDO:0008685 Wolff-Parkinson-White syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200218 Multiple atrial tachycardia MONDO:0005310 atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200218 Multiple atrial tachycardia MONDO:0005479 atrial tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200225 Atrial flutter MONDO:0005310 atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200226 Atrial fibrillation MONDO:0004981 atrial fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200227 Ventricular fibrillation MONDO:0000190 ventricular fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200228 Long qt syndrome MONDO:0002442 long QT syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200228 Long qt syndrome MONDO:0019171 familial long QT syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200229 Hypertrophic cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200231 Non-compaction of the ventricle MONDO:0018901 left ventricular noncompaction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200232 Dilated cardiomyopathy MONDO:0005021 dilated cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200233 Restrictive cardiomyopathy MONDO:0005201 restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200234 Aneurysm of ventricle MONDO:0006779 heart aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200234 Aneurysm of ventricle MONDO:0015677 cardiac diverticulum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200235 Endocardial fibroelastosis MONDO:0009169 endocardial fibroelastosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200236 Cardiac tumor MONDO:0021209 heart neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200239 Constrictive pericarditis MONDO:0006711 constrictive pericarditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery MONDO:0000811 anomalous left coronary artery from the pulmonary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200246 Stenosis or atresia of coronary artery MONDO:0006715 coronary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200248 Myocardial infarction MONDO:0005068 myocardial infarction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200249 Hypoplastic left heart syndrome MONDO:0004933 hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200250 Single ventricle MONDO:0015451 univentricular heart MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200251 Tricuspid atresia MONDO:0011514 tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200252 Pulmonary atresia with ventricular septal defect MONDO:0008343 pulmonary atresia with ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200253 Pulmonary atresia with intact ventricular septum MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200254 Tetralogy of Fallot MONDO:0008542 tetralogy of fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200256 Double outlet right ventricle MONDO:0018089 double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200257 Double-outlet left ventricle MONDO:0018090 double outlet left ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200258 Complete transposition of the great arteries MONDO:0000153 transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200259 Congenitally corrected transposition of the great arteries MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200260 Ebstein's anomaly MONDO:0009144 Ebstein anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200261 Truncus arteriosus communis MONDO:0018072 persistent truncus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200262 Aorto-pulmonary window MONDO:0021902 aortopulmonary window MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200263 Cor triatriatum MONDO:0015450 triatrial heart MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200264 Patent ductus arteriosus MONDO:0011827 patent ductus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200266 Atrial septal defect, ostium secundum type MONDO:0020434 atrial septal defect, ostium secundum type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200266 Atrial septal defect, ostium secundum type MONDO:0020439 patent foramen ovale MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200267 Atrial septal defect, sinus venosus type MONDO:0020436 atrial septal defect, sinus venosus type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200268 Incomplete atrioventricular septal defect MONDO:0015275 partial atrioventricular canal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200269 Complete atrioventricular septal defect MONDO:0015273 complete atrioventricular canal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200270 Ventricular septal defect MONDO:0002070 ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200271 Total anomalous pulmonary venous connection MONDO:0007130 congenital total pulmonary venous return anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200272 Partial anomalous pulmonary venous connection MONDO:0020453 congenital partial pulmonary venous return anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200273 Pulmonary venous obstruction MONDO:0017864 congenital pulmonary veins atresia or stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200274 Left ventricular-right atrial communication MONDO:0020428 congenital Gerbode defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200275 Double-chambered right ventricle MONDO:0016581 conotruncal heart malformations MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200276 Subvalvular pulmonary stenosis MONDO:0006935 pulmonary subvalvular stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200277 Subvalvular aortic stenosis MONDO:0006987 subvalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200278 Supravalvular pulmonary stenosis MONDO:0017870 supravalvular pulmonary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200280 Absent pulmonary valve MONDO:0020064 pulmonary valve agenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200281 Origin of pulmonary artery from ascending aorta MONDO:0020391 pulmonary artery coming from the aorta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200282 Unilateral absence of a pulmonary artery MONDO:0020007 absence of the pulmonary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200283 Coarctation of the aorta MONDO:0007345 aorta coarctation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200284 Coarctation complex MONDO:0007345 aorta coarctation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200284 Coarctation complex MONDO:0015446 atypical coarctation of aorta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200285 Supravalvular aortic stenosis MONDO:0008504 supravalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200286 Williams syndrome MONDO:0008678 Williams syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200288 Interruption of aortic arch complex MONDO:0009010 aortic arch interruption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200290 Double aortic arch disease MONDO:0020413 encircling double aortic arch MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200293 Aneurysm of sinus valsalva MONDO:0015197 aneurysm of sinus of Valsalva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200294 Aortic aneurysm MONDO:0005160 aortic aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200295 Pulmonary arteriovenous fistulae MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200296 Coronary artery fistula MONDO:0016081 coronary arterial fistulas MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200298 Pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200299 Chronic cor pulmonale MONDO:0001493 chronic pulmonary heart disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200300 Tricuspid valve stenosis MONDO:0005997 tricuspid valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200301 Tricuspid valve regurgitation MONDO:0002870 tricuspid valve insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200302 Mitral valve stenosis MONDO:0005852 mitral valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200303 Mitral regurgitation MONDO:0001298 congenital mitral valve insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200304 Pulmonary valve stenosis MONDO:0006936 pulmonary valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200305 Pulmonary valve regurgitation MONDO:0001927 pulmonary valve insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200306 Aortic valve stenosis MONDO:0042981 aortic valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200307 Aortic valve regurgitation MONDO:0005648 aortic valve insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200308 Supramitral ring MONDO:0020400 congenital supravalvular mitral ring MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200312 Congenital hypopituitarism MONDO:0018762 non-acquired combined pituitary hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200313 Acquired hypopituitarism MONDO:0019832 acquired pituitary hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200314 Pituitary gigantism MONDO:0020479 pituitary gigantism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200315 Acromegaly MONDO:0019933 acromegaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200317 Congenital growth hormone deficiency MONDO:0000050 isolated congenital growth hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200320 IGF1 insensitivity MONDO:0010038 growth delay due to insulin-like growth factor I resistance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200321 Growth hormone insensitivity MONDO:0015892 growth hormone insensitivity syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200322 Hyperprolactinemia MONDO:0005804 hyperprolactinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:0006802 inappropriate ADH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200324 Central diabetes insipidus MONDO:0015790 central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200325 Adipsic hypernatremia MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200326 Nephrogenic diabetes insipidus MONDO:0016383 nephrogenic diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200328 Basedow disease MONDO:0005364 Graves disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200329 Hyperthyroidism MONDO:0004425 hyperthyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200330 Ectoic thyroid MONDO:0019854 thyroid ectopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200331 Thyroid agenesis MONDO:0019855 athyreosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200332 Thyroid-stimulating hormone deficiency MONDO:0016410 central congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200333 Congenital hypothyroidism MONDO:0018612 congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200335 Hashimoto disease MONDO:0007699 Hashimoto thyroiditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200336 Atrophic thyroiditis MONDO:0005624 atrophic thyroiditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200340 Central hypothyroidism MONDO:0016410 central congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200341 Resistance to thyroid hormone MONDO:0001328 thyroid hormone resistance syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200341 Resistance to thyroid hormone MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200343 Hyperparathyroidism MONDO:0001741 hyperparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200345 Hypoparathyroidism MONDO:0001220 hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200345 Hypoparathyroidism MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200346 Autoimmune polyendocrinopathy type 1 MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200347 Autoimmune polyendocrinopathy type 2 MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200348 Pseudopseudohypoparathyroidism MONDO:0012912 pseudopseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200349 Pseudohypoparathyroidism MONDO:0019992 pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200350 Cushing disease MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200351 Ectopic ACTH syndrome MONDO:0043472 ectopic ACTH secretion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200352 Adrenal adenoma MONDO:0003924 adrenal cortex adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200357 Congenital adrenal hypoplasia MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200357 Congenital adrenal hypoplasia MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200358 Glucocorticoid resistance MONDO:0014421 glucocorticoid resistance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200359 Other chronic adrenal insufficiency MONDO:0009410 obsolete Addison disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200359 Other chronic adrenal insufficiency MONDO:0015129 chronic primary adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200360 Addison's disease MONDO:0009410 obsolete Addison disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200360 Addison's disease MONDO:0015129 chronic primary adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200361 Aldosteronism MONDO:0001422 primary aldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200362 Apparent mineralocorticoid excess syndrome MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200362 Apparent mineralocorticoid excess syndrome MONDO:0009025 apparent mineralocorticoid excess MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200363 Liddle syndrome MONDO:0008323 Liddle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200365 Aldosterone synthase deficiency MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200367 Pseudohypoaldosteronism MONDO:0018638 pseudohypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200368 Pseudohypoaldosteronism type I MONDO:0019161 pseudohypoaldosteronism type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200369 Pseudohypoaldosteronism type II MONDO:0019162 pseudohypoaldosteronism type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200370 Congenital lipoid adrenal hyperplasia MONDO:0018479 congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200372 11-β-Hydroxylase deficiency MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200373 17 alpha-hydroxylase deficiency MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200374 21-Hydroxylase deficiency MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200375 P450 oxidoreductase deficiency MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200377 Gonadotropin-dependent precocious puberty MONDO:0019165 central precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200378 Non-gonadotropin-dependent precocious puberty MONDO:0015791 peripheral precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200379 Hyperestrogenism MONDO:0001946 obsolete hyperestrogenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200380 Hyperandrogenism MONDO:0001324 obsolete hyperandrogenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200381 Kallmann syndrome MONDO:0018800 Kallmann syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200382 Hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200383 Testicular dysgenesis MONDO:0005437 testicular dysgenesis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200384 Ovarian dysgenesis MONDO:0009299 46 XX gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200386 Klinefelter syndrome MONDO:0006823 Klinefelter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200387 Ovotesticular dsd MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200388 Mixed gonadal dysgenesis MONDO:0001969 mixed gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200388 Mixed gonadal dysgenesis MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200389 5 alpha-reductase deficiency MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200391 Androgen insensitivity syndrome MONDO:0019154 androgen insensitivity syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200393 Disorders of sex development of 46,XX MONDO:0020040 46,XY disorder of sex development MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200393 Disorders of sex development of 46,XX MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200394 Vipoma MONDO:0019960 VIPoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200395 Gastrinoma MONDO:0003523 gastrin-producing neuroendocrine tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200396 Carcinoid syndrome MONDO:0005369 carcinoid tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200396 Carcinoid syndrome MONDO:0006689 obsolete carcinoid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200397 Glucagonoma MONDO:0019959 glucagonoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200398 Insulinoma MONDO:0024677 pancreatic insulinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200399 Congenital hyperinsulinemia MONDO:0005803 hyperinsulinemic hypoglycemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200399 Congenital hyperinsulinemia MONDO:0017182 familial hyperinsulinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200401 Vitamin D-dependent rickets MONDO:0024299 vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200402 Vitamin D-resistant osteomalacia MONDO:0024300 hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200403 Primary hypophosphatemic rickets MONDO:0024300 hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200404 Lipodystrophy MONDO:0006573 lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200405 Multiple endocrine neoplasia type 1 MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200406 Multiple endocrine neoplasia type 2 MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200406 Multiple endocrine neoplasia type 2 MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200408 Von Hippel-Lindau disease MONDO:0008667 von Hippel-Lindau disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200409 Polycystic ovary syndrome MONDO:0008487 polycystic ovary syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200410 Turner syndrome MONDO:0019499 Turner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200411 Prader-Willi syndrome MONDO:0008300 Prader-Willi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200412 McCune-Albright syndrome MONDO:0018919 McCune-Albright syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200413 Noonan syndrome MONDO:0018997 Noonan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200414 Bardet-Biedl syndrome MONDO:0015229 Bardet-Biedl syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200415 Juvenile idiopathic arthritis MONDO:0011429 juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200416 Systemic lupus erythematosus MONDO:0007915 systemic lupus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200418 Juvenile dermatomyositis MONDO:0008054 juvenile dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200419 Juvenile polymyositis MONDO:0019734 juvenile polymyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200420 Sjogren's syndrome MONDO:0010030 Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200421 Anti-phospholipid antibody syndrome MONDO:0007140 obsolete antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200422 Behcet's disease MONDO:0007191 Behcet disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200423 Takayasu arteritis MONDO:0006656 aortitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200423 Takayasu arteritis MONDO:0017991 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200424 Granulomatosis with polyangiitis MONDO:0012105 granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200425 Polyangiitis nodosa MONDO:0019170 polyarteritis nodosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200426 Microscopic polyangiitis MONDO:0019124 microscopic polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200427 Eosinophilic granulomatosis with polyangiitis MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200428 Relapsing polychondritis MONDO:0019125 relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200429 Systemic sclerosis MONDO:0005100 systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200430 Mixed connective tissue disease MONDO:0005854 mixed connective tissue disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200431 Familial Mediterranean fever MONDO:0018088 familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200432 Cryopyrin-associated periodic syndrome MONDO:0016168 cryopyrin-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200433 TNF receptor-associated periodic fever syndrome MONDO:0007727 autosomal dominant familial periodic fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200434 Blau syndrome, early onset sarcoidosis MONDO:0008523 Blau syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200435 Nakajo-Nishimura syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200436 Hyper IgD syndrome MONDO:0009849 hyperimmunoglobulinemia D with periodic fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200436 Hyper IgD syndrome MONDO:0017708 mevalonate kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0004471 bacterial arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0018824 pyoderma gangrenosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200438 Chronic recurrent multifocal osteomyelitis MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200441 Adenosine deaminase 2 deficiency MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200443 CARD14 deficiency MONDO:0011269 psoriasis 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200444 Cherubism MONDO:0007315 cherubism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200446 IL10 deficiency MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200447 IL-10RA deficiency MONDO:0013153 inflammatory bowel disease 28 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200448 IL-10RB deficiency MONDO:0012941 inflammatory bowel disease 25 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200449 NLRP12-associated periodic syndrome MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200449 NLRP12-associated periodic syndrome MONDO:0018768 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200450 Deficiency of the enzyme ADA2 MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200451 PLCg2 deficiency MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200452 IL36RN deficiency MONDO:0013626 psoriasis 14, pustular MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200453 Majeed syndrome MONDO:0012316 Majeed syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200454 NLRP12-associated periodic syndrome MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200454 NLRP12-associated periodic syndrome MONDO:0018768 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200456 RBCK1 deficiency MONDO:0018348 obsolete polyglucosan body myopathy type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200457 SLC29A3 deficiency MONDO:0011273 H syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200458 A20 haploinsufficiency MONDO:0100222 A20 haploinsufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200459 NLRC4 mutation MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200460 Diabetes mellitus type 1 MONDO:0005147 type 1 diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200461 Diabetes mellitus type 2 MONDO:0005148 type 2 diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200461 Diabetes mellitus type 2 MONDO:0007452 maturity-onset diabetes of the young type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200462 Maturity-onset diabetes of the young MONDO:0018911 maturity-onset diabetes of the young MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200463 Neonatal diabetes mellitus MONDO:0016391 neonatal diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200465 Lipoatrophic diabetes MONDO:0005827 lipoatrophic diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200465 Lipoatrophic diabetes MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200467 Phenylketonuria MONDO:0009861 phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200468 Tyrosinemia type 1 MONDO:0010161 tyrosinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200469 Tyrosinemia type 2 MONDO:0010160 tyrosinemia type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200470 Tyrosinemia type 3 MONDO:0010162 tyrosinemia type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200471 Hyperprolinemia MONDO:0023419 hyperprolinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200472 Prolidase deficiency MONDO:0008221 prolidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200473 Maple syrup urine disease MONDO:0009563 maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200474 Homocystinuria MONDO:0004737 homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200475 Hypermethioninemia MONDO:0000351 disorder of methionine catabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200476 Nonketotic hyperglycinemia MONDO:0011612 glycine encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200477 N-acetylglutamate synthetase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200478 Carbamoylphosphate synthetase deficiency MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200479 Ornithine transcarbamylase deficiency MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200480 Argininosuccinate synthetase deficiency MONDO:0008988 citrullinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200481 Argininosuccinic aciduria MONDO:0008815 argininosuccinic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200482 Hyperargininemia MONDO:0008814 hyperargininemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200483 Citrin deficiency MONDO:0016602 citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200484 Hyperornithinemia MONDO:0009796 ornithine aminotransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200486 Gyrate atrophy of choroid and retina MONDO:0009796 ornithine aminotransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200487 Hartnup disease MONDO:0009324 Hartnup disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200488 Lysinuric protein intolerance MONDO:0009109 lysinuric protein intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200489 Cystinuria MONDO:0009067 cystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200491 Methylmalonic acidemia MONDO:0002012 methylmalonic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200492 Propionic acidemia MONDO:0011628 propionic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200493 Beta-ketothiolase deficiency MONDO:0008760 beta-ketothiolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200494 Isovaleric acidemia MONDO:0009475 isovaleric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200496 Methylglutaconic aciduria MONDO:0017359 3-methylglutaconic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200497 3-hydroxy-3-methylglutaric acidemia MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200500 Multiple carboxylase deficiency MONDO:0015454 multiple carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200501 Glutaric acidemia type 1 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200502 Glutaric acidemia type 2 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200503 Primary hyperoxaluria MONDO:0002474 primary hyperoxaluria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200504 Alkaptonuria MONDO:0008753 alkaptonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200505 Glycerol kinase deficiency MONDO:0010613 inborn glycerol kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200506 Inborn errors of bile acid metabolism MONDO:0019218 inborn disorder of bile acid synthesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200508 Organic cation transporter 2 deficiency MONDO:0008919 systemic primary carnitine deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200509 Carnitine palmitoyltransferase I deficiency MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200510 Carnitine palmitoyltransferase II deficiency MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200511 Carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200515 Trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200518 Pyruvate dehydrogenase complex deficiency MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200519 Pyruvate carboxylase deficiency MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200520 Fumarase deficiency MONDO:0011730 fumaric aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200522 Mitochondrial respiratory chain disorders MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200523 Mitochondrial DNA depletion syndrome MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200524 Diseases due to mitochondrial DNA mutation MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) MONDO:0010789 MELAS syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers MONDO:0010790 MERRF syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200527 Leigh syndrome MONDO:0009723 Leigh syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200528 Diseases due to mitochondrial DNA deletion MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200529 Kearns-Sayre syndrome MONDO:0010787 Kearns-Sayre syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200531 Hereditary fructose intolerance MONDO:0009249 hereditary fructose intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency MONDO:0009258 classic galactosemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200533 Galactokinase deficiency MONDO:0009255 galactokinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200534 UDP-galactose-4-epimerase deficiency MONDO:0009257 galactose epimerase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200535 Fructose-1,6-bisphosphatase deficiency MONDO:0009251 fructose-1,6-bisphosphatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200537 Glycogen synthase deficiency MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200538 Glycogen storage disease type I MONDO:0002413 glycogen storage disease I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200539 Glycogen storage disease type III MONDO:0009291 glycogen storage disease III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200540 Glycogen storage disease type IV MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200541 Glycogen storage disease type V MONDO:0009293 glycogen storage disease V MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200542 Glycogen storage disease type VI MONDO:0009294 glycogen storage disease VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200543 Glycogen storage disease type VII MONDO:0009295 glycogen storage disease VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200544 Glycogen storage disease type IX MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200545 Glucose transporter 1 deficiency MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200547 Mucopolysaccharidosis type I MONDO:0001586 mucopolysaccharidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200548 Mucopolysaccharidosis type II MONDO:0010674 mucopolysaccharidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200549 Mucopolysaccharidosis type III MONDO:0018937 mucopolysaccharidosis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200550 Mucopolysaccharidosis type IV MONDO:0018938 mucopolysaccharidosis type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200551 Mucopolysaccharidosis type VI MONDO:0009661 mucopolysaccharidosis type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200552 Mucopolysaccharidosis type VII MONDO:0009662 mucopolysaccharidosis type 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200553 Fucosidosis MONDO:0009254 fucosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200555 Aspartylglucosaminuria MONDO:0008830 aspartylglucosaminuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200556 Sialidosis MONDO:0017734 sialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200557 Galactosialidosis MONDO:0009737 galactosialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200558 GM1 Gangliosidosis MONDO:0018149 GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200559 GM2 gangliosidosis MONDO:0017720 GM2 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200560 Metachromatic leukodystrophy MONDO:0018868 metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200561 Niemann-Pick disease MONDO:0001982 Niemann-Pick disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200562 Gaucher disease MONDO:0018150 Gaucher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200563 Fabry disease MONDO:0010526 Fabry disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200564 Krabbe disease MONDO:0009499 Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200565 Farber disease MONDO:0009218 Farber lipogranulomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200566 Multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200567 Mucolipidosis II MONDO:0009650 mucolipidosis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200568 Mucolipidosis III MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200569 Pompe disease MONDO:0009290 glycogen storage disease II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200570 Acid lipase deficiency MONDO:0019148 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200571 Cystinosis MONDO:0016239 cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200572 Free Sialic Acid Storage Disease MONDO:0019366 free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200573 Neuronal ceroid lipofuscinoses MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200575 Peroxisome biogenesis disorders MONDO:0019234 peroxisome biogenesis disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200576 Adrenoleukodystrophy MONDO:0018544 adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200577 Refsum disease MONDO:0009958 adult Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200579 Wilson disease MONDO:0010200 Wilson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200580 Menkes disease MONDO:0010651 Menkes disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200581 Occipital horn syndrome MONDO:0010572 occipital horn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200582 Aceruloplasminemia MONDO:0011426 aceruloplasminemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200583 Sulfite oxidase deficiency MONDO:0010089 isolated sulfite oxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200584 Acrodermatitis enteropathica MONDO:0008713 acrodermatitis enteropathica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200586 Lesch-Nyhan syndrome MONDO:0010298 Lesch-Nyhan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200586 Lesch-Nyhan syndrome MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200587 Adenine phosphoribosyltransferase deficiency MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200588 Xanthinuria MONDO:0000721 xanthinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200590 Orotic aciduria MONDO:0009797 orotic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200592 Hereditary folate malabsorption MONDO:0009238 hereditary folate malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200594 Tetrahydrobiopterin deficiency MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200595 Tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200597 Dopamine beta hydroxylase deficiency MONDO:0009123 orthostatic hypotension 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency MONDO:0013166 GABA aminotransaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200602 Familial hypercholesterolemia MONDO:0005439 familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200602 Familial hypercholesterolemia MONDO:0007750 hypercholesterolemia, familial, 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200602 Familial hypercholesterolemia MONDO:0016525 familial hyperaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200603 Familial combined hyperlipidemia MONDO:0001336 familial hyperlipidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200604 Abetalipoproteinemia MONDO:0008692 abetalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200605 HDL deficiency MONDO:0017773 hypoalphalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200605 HDL deficiency MONDO:0100189 apolipoprotein A-I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200607 Ehlers-Danlos syndrome MONDO:0020066 Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200608 Lipoid proteinosis MONDO:0009530 lipoid proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200610 Congenital porphyria MONDO:0019142 inherited porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200611 Alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200612 Megaloblastic anemia MONDO:0001700 megaloblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200613 Acquired pure red cell aplasia MONDO:0020338 adult pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200614 Congenital red cell aplasia MONDO:0015253 Diamond-Blackfan anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200615 Congenital dyserythropoietic anemia MONDO:0019403 congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200616 Sideroblastic anemia MONDO:0015194 sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200617 Congenital atransferrinemia MONDO:0008846 atransferrinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200618 Cold agglutinin disease MONDO:0018922 cold agglutinin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200619 Paroxysmal cold hemoglobinuria MONDO:0019533 paroxysmal cold hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200621 Paroxysmal nocturnal hemoglobinuria MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200622 Hereditary spherocytosis MONDO:0019350 hereditary spherocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200623 Hereditary stomatocytosis MONDO:0020102 hereditary stomatocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200624 Sickle cell disease MONDO:0011382 sickle cell anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200625 Unstable hemoglobin disease MONDO:0020459 unstable hemoglobin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200626 Thalassemia MONDO:0000984 thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency MONDO:0005775 G6PD deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200630 Hereditary elliptocytosis MONDO:0017319 hereditary elliptocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200631 Hereditary pyropoikilocytosis MONDO:0009948 pyropoikilocytosis, hereditary MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200633 Stomatocytic xerocytosis MONDO:0017910 dehydrated hereditary stomatocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia MONDO:0008367 red cell phospholipid defect with hemolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200635 Hemoglobin C disease MONDO:0016242 hemoglobin C disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200636 Hemolytic anemia MONDO:0003664 hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200637 Hypersplenism MONDO:0006795 hypersplenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200639 Disseminated intravascular coagulation MONDO:0001243 disseminated intravascular coagulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200641 Atypical hemolytic uremic syndrome MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200643 Polycythemia vera MONDO:0009891 acquired polycythemia vera MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200644 Familial polycythemia MONDO:0001115 familial polycythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200645 Immune thrombocytopenic purpura MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200647 Neonatal alloimmune thrombocytopenia MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200648 Heparin-induced thrombocytopenia MONDO:0018048 heparin-induced thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200649 Thrombotic thrombocytopenic purpura MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200651 Congenital amegakaryocytic thrombocytopenia MONDO:0011469 congenital amegakaryocytic thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200652 Fanconi anemia MONDO:0019391 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200653 Cyclic thrombocytopenia MONDO:0008556 thrombocytopenia, cyclic MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200654 May-Hegglin anomaly MONDO:0007954 obsolete May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200655 Essential thrombocythemia MONDO:0005029 essential thrombocythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200656 Bernard-Soulier syndrome MONDO:0009276 Bernard-Soulier syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200657 Thrombasthenia MONDO:0010119 obsolete Glanzmann's thrombasthenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200661 Thrombocytopenia with absent radii MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200662 Familial platelet disorder with propensity to myeloid. MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200663 Autosomal dominant thrombocytopenia 2 MONDO:0008555 thrombocytopenia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200664 ITGA2B/ITGB3 mutations MONDO:0010119 obsolete Glanzmann's thrombasthenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200665 ACTN1 mutations MONDO:0014078 platelet-type bleeding disorder 15 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200667 β-1 tubulin disorders MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200668 Platelet-type von Willebrand disease MONDO:0008332 platelet-type von Willebrand disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200669 ADP receptor deficiencies MONDO:0012354 platelet-type bleeding disorder 8 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200670 Abnormalities in platelet collagen receptors MONDO:0013623 platelet-type bleeding disorder 11 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200671 Scott syndrome MONDO:0009885 Scott syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200672 Afibrinogenemia MONDO:0008737 congenital afibrinogenemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200673 Hypoprothrombinemia MONDO:0013361 congenital prothrombin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200674 Factor V deficiency MONDO:0020586 factor V deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200675 Factor VII deficiency MONDO:0002244 factor VII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200676 Hemophilia A MONDO:0010602 hemophilia A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200677 Hemophilia B MONDO:0010604 hemophilia B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200678 Factor X deficiency MONDO:0002247 factor X deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200679 Factor XI deficiency MONDO:0020587 factor XI deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200680 Factor XII deficiency MONDO:0009315 congenital factor XII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200681 Factor XIII deficiency MONDO:0002241 factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200681 Factor XIII deficiency MONDO:0018029 congenital factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200682 Von Willebrand disease MONDO:0024574 von Willebrand disease (hereditary or acquired) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200684 Congenital prekallikrein deficiency MONDO:0012901 inherited prekallikrein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200684 Congenital prekallikrein deficiency MONDO:0044744 prekallikrein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200685 High molecular weight kininogen deficiency MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200686 Combined deficiency of coagulation factors V and VIII MONDO:0018175 combined deficiency of factor V and factor VIII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200687 Alpha-2-plasmin inhibitor deficiency MONDO:0009883 alpha-2-plasmin inhibitor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200689 Protein C deficiency MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200690 Protein S deficiency MONDO:0002304 protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200692 Myelofibrosis MONDO:0044903 myelofibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200693 Aplastic anemia MONDO:0015909 aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200694 X-linked severe combined immunodeficiency MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200695 Reticular dysgenesis MONDO:0009973 reticular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200696 Adenosine deaminase deficiency MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200697 Omenn syndrome MONDO:0011338 Omenn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200698 Purine nucleoside phosphorylase deficiency MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200699 CD8 deficiency MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200700 ZAP-70 deficiency MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200701 MHC class I deficiency MONDO:0011476 MHC class I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200702 MHC class II deficiency MONDO:0008855 MHC class II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200704 Wiskott-Aldrich syndrome MONDO:0010518 Wiskott-Aldrich syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200705 Ataxia telangiectasia MONDO:0008840 ataxia telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200706 Nijmegen breakage syndrome MONDO:0009623 Nijmegen breakage syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200707 Bloom syndrome MONDO:0008876 Bloom syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200708 ICF syndrome MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200710 RIDDLE syndrome MONDO:0012764 RIDDLE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200711 Schimke syndrome MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200712 Thymus hypoplasia MONDO:0008564 DiGeorge syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200712 Thymus hypoplasia MONDO:0008644 velocardiofacial syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200712 Thymus hypoplasia MONDO:0018923 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200713 Hyper-IgE syndrome MONDO:0018037 hyper-IgE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200715 Dyskeratosis congenita MONDO:0015780 dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200716 X-linked agammaglobulinemia MONDO:0010421 Bruton-type agammaglobulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200717 Common variable immunodeficiency MONDO:0015517 common variable immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200718 Hyper-IgM syndrome MONDO:0003947 hyper-IgM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200719 Isolated IgG subclass deficiency MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200720 Selective IgA deficiency MONDO:0001341 selective IgA deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200724 Chédiak-Higashi syndrome MONDO:0008963 Chediak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200725 X-linked lymphoproliferative syndrome MONDO:0010627 X-linked lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200726 Autoimmune lymphoproliferative syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200728 Perforin deficiency MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200729 UNC13D/Munc13-4 deficiency MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200730 Syntaxin 11 deficiency MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200731 STXBP2/Munc18-2 deficiency MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200732 Griscelli syndrome type 2 MONDO:0011872 Griscelli syndrome type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200733 Hermansky-Pudlak syndrome type 2 MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200734 IL-2-inducible T-cell kinase deficiency MONDO:0013081 lymphoproliferative syndrome 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200735 CD27 deficiency MONDO:0016536 autosomal recessive lymphoproliferative disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity MONDO:0011664 immunodeficiency due to CD25 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200737 STAT5b deficiency MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200740 Caspase-8 deficiency MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200741 Fas-associated death domain protein deficiency MONDO:0013408 FADD-related immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200743 PKC-δ deficiency MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200745 Severe congenital neutropenia MONDO:0018542 severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200746 Cyclic neutropenia MONDO:0008090 cyclic hematopoiesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome MONDO:0011405 poikiloderma with neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200750 Cohen syndrome MONDO:0008999 Cohen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200751 Barth syndrome MONDO:0010543 Barth syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200752 P14 deficiency MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200753 X linked severe congenital neutropenia MONDO:0010294 X-linked severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200754 Glycogen storage disease type 1b MONDO:0009288 glycogen storage disease Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200755 Leukocyte adhesion deficiency MONDO:0017570 leukocyte adhesion deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200756 Shwachman-Diamond syndrome MONDO:0009833 Shwachman-Diamond syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200757 Chronic granulomatous disease MONDO:0018305 chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200758 Myeloperoxidase deficiency MONDO:0009694 myeloperoxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200759 Mendelian susceptibility to mycobacterial disease MONDO:0019146 inherited susceptibility to mycobacterial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200762 IRAK4 deficiency MONDO:0011888 immunodeficiency 67 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200763 MyD88 deficiency MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200764 Chronic mucocutaneous candidiasis MONDO:0015279 chronic mucocutaneous candidiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200766 HOIL-1 deficiency MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200767 WHIM syndrome MONDO:0008674 obsolete WHIM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200768 Epidermodysplasia verruciformis MONDO:0009176 epidermodysplasia verruciformis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200770 STAT2 deficiency MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200771 MCM4 mutation MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200772 Herpes simplex encephalitis MONDO:0012521 herpes simplex encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200773 CARD9 deficiency MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200774 Trypanosomiasis MONDO:0000940 trypanosomiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200775 Isolated congenital asplenia MONDO:0010066 familial isolated congenital asplenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200776 Inherited deficiency of complement system MONDO:0003832 complement deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200777 C1q deficiency MONDO:0013343 C1Q deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200779 C1s deficiency MONDO:0013419 complement component C1s deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200781 C2 deficiency MONDO:0009006 complement component 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200782 C3 deficiency MONDO:0013417 complement component 3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200783 C5 deficiency MONDO:0012295 complement component 5 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200784 C6 deficiency MONDO:0012908 complement component 6 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200785 C7 deficiency MONDO:0012412 complement component 7 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200787 C9 deficiency MONDO:0013445 complement component 9 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200788 Factor D deficiency MONDO:0013487 recurrent Neisseria infections due to factor D deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200789 Properdin deficiency MONDO:0010713 properdin deficiency, X-linked MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200790 Factor I deficiency MONDO:0012594 complement factor I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200791 Factor H deficiency MONDO:0012350 complement factor H deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome MONDO:0017398 3MC syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200793 MASP2 deficiency MONDO:0013423 immunodeficiency due to MASP-2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200794 Ficolin 3 Deficiency MONDO:0013467 immunodeficiency due to ficolin3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200795 Hereditary angioedema MONDO:0007361 C1 inhibitor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200795 Hereditary angioedema MONDO:0019623 hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200797 Factor B deficiency MONDO:0014255 complement factor b deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200798 Factor I deficiency MONDO:0012594 complement factor I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200801 CD21 deficiency MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200801 CD21 deficiency MONDO:0013862 immunodeficiency, common variable, 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200803 CD46 deficiency MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200804 Primary CD59 deficiency MONDO:0012858 primary CD59 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200805 Hyper eosinophilic syndrome MONDO:0015691 hypereosinophilic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200806 Hypereosinophilic syndrome MONDO:0015691 hypereosinophilic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200807 Eosinophilic gastrointestinal disorders MONDO:0018438 eosinophilic gastrointestinal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200808 Chronic active EB virus infection MONDO:0009194 immunodeficiency 32B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200809 Acquired immune deficiency syndrome MONDO:0012268 AIDS MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200810 HIV infection MONDO:0005109 HIV infectious disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200812 Chronic graft-versus-host disease MONDO:0020547 chronic graft versus host disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200813 Meningoencephalocele MONDO:0017079 meningoencephalocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200814 Myelomeningocele MONDO:0017069 spina bifida cystica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200814 Myelomeningocele MONDO:0019773 myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200815 Spinal lipoma MONDO:0001790 spinal cord lipoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200816 Sacrococcygeal teratoma MONDO:0042727 sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200817 Lissencephaly MONDO:0018838 lissencephaly spectrum disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200818 Schizencephaly MONDO:0010011 schizencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200819 Holoprosencephaly MONDO:0016296 holoprosencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200820 Septo-optic dysplasia MONDO:0008428 septooptic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200821 Dandy-Walker syndrome MONDO:0009072 Dandy-Walker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200822 Congenital hydrocephalus MONDO:0016349 congenital hydrocephalus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200823 Megalencephaly-capillary malformation syndrome MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200824 Joubert syndrome related disorders MONDO:0015369 Joubert syndrome and related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200825 Rett syndrome MONDO:0010726 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200826 Tuberous sclerosis complex MONDO:0001734 tuberous sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200826 Tuberous sclerosis complex MONDO:0019341 obsolete tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200827 Neurocutaneous melanosis MONDO:0009578 neurocutaneous melanocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200828 Gorlin syndrome MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200829 von Hippel-Lindau disease MONDO:0008667 von Hippel-Lindau disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200830 Sturge-Weber syndrome MONDO:0008501 Sturge-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200831 Werner syndrome MONDO:0010196 Werner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200832 Cockayne syndrome MONDO:0016006 Cockayne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200833 Hutchinson-Gilford syndrome MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200834 Canavan disease MONDO:0010079 Canavan disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200835 Alexander disease MONDO:0008752 Alexander disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200836 Congenital hypomyelinating leukodystrophy MONDO:0019046 leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200838 Vanishing white matter disease MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200839 ATR-X syndrome MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200840 Fragile X syndrome MONDO:0010383 fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200842 Cerebral creatine deficiency syndrome MONDO:0000456 cerebral creatine deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200843 Non-syndromic craniosynostosis MONDO:0015337 isolated craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200844 Apert syndrome MONDO:0007041 Apert syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200845 Crouzon disease MONDO:0007405 Crouzon syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200847 Carpenter syndrome MONDO:0019012 Carpenter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200848 Saethre-Chotzen syndrome MONDO:0007042 Saethre-Chotzen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200850 Moyamoya disease MONDO:0016820 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200851 Cerebral arteriovenous malformation MONDO:0007154 arteriovenous malformations of the brain MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200852 Cavernous angioma of the brain and spinal cord MONDO:0002327 intracranial cavernous angioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200853 Spinal muscular atrophy MONDO:0001516 spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200854 Congenital insensitivity to pain with anhidrosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200855 Hereditary Motor and Sensory Neuropathy MONDO:0015358 hereditary motor and sensory neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200855 Hereditary Motor and Sensory Neuropathy MONDO:0015626 Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200856 Duchenne muscular dystrophy MONDO:0010679 Duchenne muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200857 Emery-Dreifuss muscular dystrophy MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200858 Limb-girdle muscular dystrophy MONDO:0016971 limb-girdle muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200859 Facioscapulohumeral muscular dystrophy MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200860 Fukuyama type congenital muscular dystrophy MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200861 Merosin-deficient congenital muscular dystrophy MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200862 Ullrich congenital muscular dystrophy MONDO:0000355 Ullrich congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200864 Myotonic dystrophy MONDO:0016107 myotonic dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200865 Becker muscular dystrophy MONDO:0010311 Becker muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200866 LMNA-related congenital muscular dystrophy MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200867 Myotubular myopathy MONDO:0002921 congenital structural myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200867 Myotubular myopathy MONDO:0018947 centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200868 Congenital fiber-type disproportion myopathy MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200869 Nemaline myopathy MONDO:0018958 nemaline myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200870 Central core disease MONDO:0007294 central core myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200871 Multicore disease MONDO:0018948 multiminicore myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200872 Minicore myopathy MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200875 Reducing body myopathy MONDO:0019948 reducing body myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200876 Schwartz-Jampel syndrome MONDO:0009717 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200877 Severe myoclonic epilepsy in infancy MONDO:0100135 Dravet syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200878 West syndrome MONDO:0018097 West syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200879 Lennox-Gastaut syndrome MONDO:0016532 Lennox-Gastaut syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200880 Unverricht-Lundborg disease MONDO:0009698 Unverricht-Lundborg syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200881 Lafora disease MONDO:0009697 Lafora disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200882 Spinocerebellar degeneration MONDO:0000437 cerebellar ataxia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200883 Alternating hemiplegia of childhood MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200884 Dystonia musculorum deformans MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200885 Segawa syndrome MONDO:0016812 dopa-responsive dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200886 Pantothenate kinase-associated neurodegeneration MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200887 Infantile neuroaxonal dystrophy MONDO:0009739 obsolete infantile neuroaxonal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200888 Infantile bilateral striatal necrosis MONDO:0015518 infantile bilateral striatal necrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200889 Congenital herpes simplex virus infection MONDO:0017381 congenital herpes simplex virus infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200890 Congenital rubella syndrome MONDO:0005713 obsolete MONDO:0005713 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200890 Congenital rubella syndrome MONDO:0017361 congenital rubella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200891 Congenital cytomegalovirus infection MONDO:0017409 fetal cytomegalovirus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200892 Congenital toxoplasmosis MONDO:0005715 congenital toxoplasmosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200893 Aicardi-Goutières Syndrome MONDO:0018866 Aicardi-Goutieres syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200894 Aicardi-Goutieres syndrome 2 MONDO:0012429 Aicardi-Goutieres syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200895 Aicardi-Goutieres syndrome 3 MONDO:0012471 Aicardi-Goutieres syndrome 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200897 Aicardi-Goutieres syndrome 5 MONDO:0013059 Aicardi-Goutieres syndrome 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200898 Aicardi-Goutieres syndrome 6 MONDO:0014007 Aicardi-Goutieres syndrome 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200899 Subacute sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200900 Rasmussen's encephalitis MONDO:0016019 Rasmussen subacute encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200902 Autoimmune encephalitis MONDO:0020640 autoimmune encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200904 Multiple sclerosis MONDO:0005301 multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:0007691 Guillain-Barre syndrome, familial MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200906 Myasthenia gravis MONDO:0009688 myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200907 Lactose intolerance MONDO:0009116 obsolete lactose intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200908 Congenital sucrase-isomaltase deficiency MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200909 Glucose-galactose malabsorption MONDO:0011731 glucose-galactose malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200910 Enterokinase deficiency MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200911 Amylase deficiency MONDO:0015169 chronic diarrhea due to glucoamylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200912 Lipase deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200913 Microvillus inclusion disease MONDO:0009635 microvillus inclusion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200914 Intestinal lymphangiectasia MONDO:0018178 intestinal lymphangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200915 Familial adenomatous polyposis MONDO:0021055 classic familial adenomatous polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200916 Juvenile polyposis MONDO:0017380 juvenile polyposis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200917 Peutz-Jeghers syndrome MONDO:0008280 Peutz-Jeghers syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200918 Cowden syndrome MONDO:0016063 Cowden disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200919 Cyclic vomiting syndrome MONDO:0010778 cyclic vomiting syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200920 Ulcerative colitis MONDO:0005101 ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200921 Crohn's disease MONDO:0005011 Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200923 Autoimmune enteropathy MONDO:0019787 autoimmune enteropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200924 IPEX syndrome MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200930 biliary atresia MONDO:0008867 biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200930 biliary atresia MONDO:0028737 obsolete biliary atresia disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200931 Alagille syndrome MONDO:0007318 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200933 Progressive familial intrahepatic cholestasis MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200934 Caroli disease MONDO:0010913 Caroli disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200934 Caroli disease MONDO:0018808 Caroli syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200936 Congenital hepatic fibrosis MONDO:0018840 isolated congenital hepatic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200937 Liver cirrhosis MONDO:0005155 cirrhosis of liver MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200941 Crigler-Najjar syndrome MONDO:0009044 Crigler-Najjar syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200942 Hereditary pancreatitis MONDO:0008185 hereditary chronic pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200943 Autoimmune pancreatitis MONDO:0015175 autoimmune pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200944 Short bowel syndrome MONDO:0015183 short bowel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200945 Hirschsprung disease MONDO:0018309 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction MONDO:0017574 chronic intestinal pseudoobstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200948 Congenital Isolated Hypoganglionosis MONDO:0008738 aganglionosis, total intestinal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200948 Congenital Isolated Hypoganglionosis MONDO:0018309 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200950 Persistent cloaca MONDO:0009774 cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200951 Cloacal exstrophy MONDO:0009774 cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200952 Coffin-Lowry syndrome MONDO:0010561 Coffin-Lowry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200953 Sotos syndrome MONDO:0019349 Sotos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200954 Smith-Magenis syndrome MONDO:0008434 Smith-Magenis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200955 Rubinstein-Taybi syndrome MONDO:0019188 Rubinstein-Taybi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200956 Kabuki syndrome MONDO:0016512 Kabuki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200957 Weaver syndrome MONDO:0010193 Weaver syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200958 Cornelia de Lange syndrome MONDO:0016033 Cornelia de Lange syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200959 Beckwith-Wiedemann syndrome MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200960 Angelman syndrome MONDO:0007113 Angelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200961 5p- syndrome MONDO:0007404 Cri-du-chat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200962 4p- Syndrome MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200963 Trisomy 18 MONDO:0018071 trisomy 18 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200964 Trisomy 13 MONDO:0018068 trisomy 13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200965 Down syndrome MONDO:0008608 Down syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200967 CFC Syndrome MONDO:0015280 cardiofaciocutaneous syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200968 Marfan syndrome MONDO:0007947 Marfan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200969 Loeys-Dietz syndrome MONDO:0018954 Loeys-Dietz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200970 Camurati-Engelmann disease MONDO:0007542 Camurati-Engelmann disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200971 Costello syndrome MONDO:0009026 Costello syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200972 CHARGE syndrome MONDO:0008965 CHARGE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200973 Hallermann-Streiff syndrome MONDO:0009318 Hallermann-Streiff syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200974 Incontinentia pigmenti MONDO:0010631 incontinentia pigmenti MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200975 Antley-Bixler syndrome MONDO:0008803 Antley-Bixler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200976 Pfeiffer syndrome MONDO:0005810 infectious mononucleosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200976 Pfeiffer syndrome MONDO:0007043 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200977 Coffin-Siris syndrome MONDO:0015452 Coffin-Siris syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200978 Simpson-Golabi-Behmel syndrome MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200979 Smith-Lemli-Opitz syndrome MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200980 Moebius syndrome MONDO:0008006 Mobius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200981 Mowat-Wilson syndrome MONDO:0009341 Mowat-Wilson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200982 Young-Simpson syndrome MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200983 VATER syndrome MONDO:0008642 VACTERL/vater association MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200984 MECP2 duplication syndrome MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200985 Takenouchi-Kosaki syndrome MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200986 Oculocutaneous albinism MONDO:0018910 oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200987 Keratinopathic ichthyosis MONDO:0017266 keratinopathic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200988 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 autosomal dominant epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200989 Autosomal recessive epidermolytic ichthyosis MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200990 Superficial epidermolytic ichthyosis MONDO:0007813 superficial epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200991 Autosomal recessive congenital ichthyosis MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200992 Harlequin ichthyosis MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200993 Netherton syndrome MONDO:0009735 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200994 Sjögren-Larsson syndrome MONDO:0010031 Sjogren-Larsson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200996 Keratitis-ichthyosis-deafness syndrome MONDO:0018781 KID syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200997 Dorfman-Chanarin syndrome MONDO:0010155 Dorfman-Chanarin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200997 Dorfman-Chanarin syndrome MONDO:0015611 neutral lipid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200998 CHILD syndrome MONDO:0010621 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201000 Epidermolysis bullosa MONDO:0006541 epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201001 Pustular psoriasis MONDO:0022205 pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201002 Xeroderma pigmentosum MONDO:0019600 xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201003 von Recklinghausen's disease MONDO:0018975 neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201003 von Recklinghausen's disease MONDO:0021061 neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201004 Pachydermoperiostosis MONDO:0009799 obsolete pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201004 Pachydermoperiostosis MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201005 Anhidrotic ectodermal dysplasia MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201006 Stevens-Johnson syndrome MONDO:0018229 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201007 Toxic epidermal necrolysis MONDO:0019810 toxic epidermal necrolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201008 Thoracic insufficiency syndrome MONDO:0015929 thoracic malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201009 Achondroplasia MONDO:0007037 Achondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201010 Hypochondroplasia MONDO:0007793 hypochondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201011 Osteogenesis imperfecta MONDO:0019019 osteogenesis imperfecta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201012 Hypophosphatasia MONDO:0018570 hypophosphatasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201013 Osteopetrosis MONDO:0017198 osteopetrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201014 Multiple cartilaginous exostosis MONDO:0005508 hereditary multiple osteochondromas MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201015 Enchondromatosis MONDO:0005508 hereditary multiple osteochondromas MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201015 Enchondromatosis MONDO:0008145 Ollier disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201016 Type II collagenopathy MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201016 Type II collagenopathy MONDO:0016068 fibrochondrogenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201016 Type II collagenopathy MONDO:0022800 type 2 collagenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201017 Chondrodysplasia punctata MONDO:0019701 chondrodysplasia punctata MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201018 Pseudoachondroplasia MONDO:0008322 pseudoachondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201019 Larsen syndrome MONDO:0007875 Larsen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201020 Fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201020 Fibrodysplasia ossificans progressiva MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders MONDO:0018240 TRPV4-related bone disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201022 Osteosclerotic diseases MONDO:0002933 osteosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201023 Pycnodysostosis MONDO:0009940 pycnodysostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201024 Osteopoikilosis MONDO:0001414 osteopoikilosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201026 Beals syndrome MONDO:0007363 congenital contractural arachnodactyly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201027 Blue rubber bleb nevus syndrome MONDO:0007203 blue rubber bleb nevus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201030 Klippel-Trenaunay-Weber syndrome MONDO:0007864 angioosteohypertrophic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201031 Primary lymphedema MONDO:0019175 primary lymphedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201032 Lymphangioma MONDO:0002013 lymphangioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201033 Lymphangiomatosis MONDO:0015408 diffuse lymphatic malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201034 Hereditary hemorrhagic telangiectasia MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201035 Kasabach-Merritt syndrome MONDO:0007708 Kasabach-Merritt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201038 Bilateral retinoblastoma MONDO:0003075 bilateral retinoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201040 Bronchomalacia MONDO:0008888 Williams-Campbell syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201042 Hypertrophic obstructive cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201046 Idiopathic pulmonary arterial hypertension MONDO:0017147 idiopathic pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201047 Familial pulmonary arterial hypertension MONDO:0017148 heritable pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201048 Secondary pulmonary arterial hypertension MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201050 Familial central diabetes insipidus MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201052 Multiple endocrine neoplasia type 2A MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201053 Multiple endocrine neoplasia type 2B MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201054 Medullary thyroid carcinoma MONDO:0015277 medullary thyroid gland carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201055 Systemic juvenile idiopathic arthritis MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201056 Oligoarticular juvenile idiopathic arthritis MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis MONDO:0043152 negative rheumatoid factor polyarthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201059 Psoriatic juvenile idiopathic arthritis MONDO:0011849 psoriatic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis MONDO:0019607 unspecified juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome MONDO:0011776 CINCA syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201067 Muckle-Wells syndrome MONDO:0008633 Muckle-Wells syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201068 familial cold autoinflammatory syndrome MONDO:0018768 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201069 Maturity-onset diabetes of the young type 1 MONDO:0007452 maturity-onset diabetes of the young type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201070 Maturity-onset diabetes of the young type 2 MONDO:0007453 maturity-onset diabetes of the young type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201071 Maturity-onset diabetes of the young type 3 MONDO:0010894 maturity-onset diabetes of the young type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201072 Maturity-onset diabetes of the young type 4 MONDO:0011667 maturity-onset diabetes of the young type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201073 Maturity-onset diabetes of the young type 5 MONDO:0007669 renal cysts and diabetes syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201075 Phenylalanine hydroxylase deficiency MONDO:0009861 phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201076 BH4 deficiency MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201077 BH4-responsive hyperphenylalaninemia MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201078 Classic form maple syrup urine disease MONDO:0017051 classic maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201079 Intermediate maple syrup urine disease MONDO:0017052 intermediate maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201080 Intermittent maple syrup urine disease MONDO:0017053 intermittent maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201081 Thiamine-responsive maple syrup urine disease MONDO:0017054 thiamine-responsive maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency MONDO:0016600 acute neonatal citrullinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201095 Late-onset argininosuccinate synthetase deficiency MONDO:0016601 adult-onset citrullinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201105 Methylmalonic acidemia cblA type MONDO:0009613 methylmalonic aciduria, cblA type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201106 Methylmalonic acidemia cblB type MONDO:0009614 methylmalonic aciduria, cblB type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201108 Methylmalonic acidemia CblD type MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201109 Methylcobalamin deficiency cblE type MONDO:0009354 methylcobalamin deficiency type cblE MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201111 Methylcobalamin deficiency cblG type MONDO:0009609 methylcobalamin deficiency type cblG MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201111 Methylcobalamin deficiency cblG type MONDO:0021915 arakawa syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201147 Presymptomatic trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201151 Glycogen storage disease type 0a MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201152 Glycogen storage disease type 0b MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201153 Glycogen storage disease type 1a MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201154 Glycogen storage disease type 1b MONDO:0009288 glycogen storage disease Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201159 Glycogen storage disease type IV, hepatic form MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201163 Glycogen storage disease type IV, adult form MONDO:0009897 adult polyglucosan body disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201164 Glycogen storage disease type IXa MONDO:0010598 glycogen storage disease IXa1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201165 Glycogen storage disease type IXb MONDO:0009868 glycogen storage disease IXb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201166 Glycogen storage disease type IXc MONDO:0013091 glycogen storage disease IXc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201167 Glycogen storage disease type IXd MONDO:0010362 glycogen storage disease IXd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201168 Hurler Disease MONDO:0001586 mucopolysaccharidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201168 Hurler Disease MONDO:0011758 Hurler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201169 Scheie disease MONDO:0011760 Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201170 Hurler-Scheie disease MONDO:0011759 Hurler-Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201171 Mucopolysaccharidosis type II, attenuated form MONDO:0016316 mucopolysaccharidosis type 2, attenuated form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201172 Mucopolysaccharidosis type II, intermediate form MONDO:0016316 mucopolysaccharidosis type 2, attenuated form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201173 Mucopolysaccharidosis type II, severe form MONDO:0016315 mucopolysaccharidosis type 2, severe form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201174 Mucopolysaccharidosis type III A MONDO:0009655 mucopolysaccharidosis type 3A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201175 Mucopolysaccharidosis type III B MONDO:0009656 mucopolysaccharidosis type 3B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201176 Mucopolysaccharidosis type III C MONDO:0009657 mucopolysaccharidosis type 3C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201177 Mucopolysaccharidosis type III D MONDO:0009658 mucopolysaccharidosis type 3D MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201178 Mucopolysaccharidosis type IV A MONDO:0009659 mucopolysaccharidosis type 4A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201179 Mucopolysaccharidosis type IV B MONDO:0009660 mucopolysaccharidosis type 4B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201188 Alpha-mannosidosis, infantile form MONDO:0017732 alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201188 Alpha-mannosidosis, infantile form MONDO:0022424 alpha-mannosidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201189 Alpha-mannosidosis, adult form MONDO:0017733 alpha-mannosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201190 Beta-mannosidosis MONDO:0009562 beta-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201191 Sialidosis type 1 MONDO:0019346 sialidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201192 Sialidosis type 2 MONDO:0009738 sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201193 Galactosialidosis, early infantile form MONDO:0009738 sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201196 GM1 gangliosidosis, infantile form MONDO:0009260 GM1 gangliosidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201197 GM1 gangliosidosis, juvenile form MONDO:0009261 GM1 gangliosidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201198 GM1 gangliosidosis, adult form MONDO:0009262 GM1 gangliosidosis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201199 Tay-Sachs disease MONDO:0010100 Tay-Sachs disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201200 Sandhoff disease MONDO:0010006 Sandhoff disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201201 GM2 gangliosidosis AB variant MONDO:0010099 Tay-Sachs disease AB variant MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201202 Metachromatic leukodystrophy, late infantile form MONDO:0017729 metachromatic leukodystrophy, late infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201203 Metachromatic leukodystrophy, juvenile form MONDO:0009591 metachromatic leukodystrophy, juvenile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201204 Metachromatic leukodystrophy, adult form MONDO:0017730 metachromatic leukodystrophy, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201205 Saposin B deficiency MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201206 Niemann-Pick disease type A MONDO:0009756 Niemann-Pick disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201207 Niemann-Pick disease type B MONDO:0011871 Niemann-Pick disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201209 Adult-onset Niemann-Pick disease type C MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201210 Gaucher disease type 1 MONDO:0009265 Gaucher disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201211 Gaucher disease type 2 MONDO:0009266 Gaucher disease type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201212 Gaucher disease type 3 MONDO:0009267 Gaucher disease type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201216 Infantile Krabbe disease MONDO:0016089 infantile Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201219 Adult Krabbe disease MONDO:0016091 adult Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201229 Classic infantile Pompe disease MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201232 Wolman disease MONDO:0019148 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201233 Cholesterol ester storage disease MONDO:0019149 cholesteryl ester storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201234 Nephropathic cystinosis MONDO:0018467 nephropathic infantile cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201234 Nephropathic cystinosis MONDO:0100151 nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201235 Intermediate cystinosis MONDO:0009066 juvenile nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201236 Non-nephropathic cystinosis MONDO:0009064 ocular cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201237 Infantile free sialic acid storage disease MONDO:0010027 free sialic acid storage disease, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201238 Intermediate severe Salla disease MONDO:0017737 intermediate severe Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201240 Congenital neuronal ceroid lipofuscinosis MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201244 Adult neuronal ceroid lipofuscinosis MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201246 Childhood cerebral adrenoleukodystrophy MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201248 Adrenomyeloneuropathy MONDO:0015339 adrenomyeloneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201255 Homozygous familial hypercholesterolemia MONDO:0018328 homozygous familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201256 Ehlers-Danlos syndrome, classical type MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201258 Ehlers-Danlos syndrome, vascular type MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201263 Acute intermittent porphyria MONDO:0008294 acute intermittent porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201264 Hereditary coproporphyria MONDO:0007369 hereditary coproporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201265 Variegate porphyria MONDO:0008297 variegate porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201266 Erythropoietic protoporphyria MONDO:0001676 erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201266 Erythropoietic protoporphyria MONDO:0008319 protoporphyria, erythropoietic, 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201267 Porphyria cutanea tarda MONDO:0015104 porphyria cutanea tarda MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201268 Congenital erythropoietic porphyria MONDO:0009902 cutaneous porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201269 X-linked dominant protoporphyria MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201270 Hepatoerythropoietic porphyria MONDO:0019799 hepatoerythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201273 α-thalassemia MONDO:0011399 alpha thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201274 β-thalassemia MONDO:0019402 beta thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201275 Congenital aplastic anemia MONDO:0001713 inherited aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201276 Idiopathic aplastic anemia MONDO:0012197 idiopathic aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201277 Secondary aplastic anemia MONDO:0015610 acquired aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201279 gp91phox-deficient chronic granulomatous disease MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201280 p22phox-deficient chronic granulomatous disease MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201281 p47phox-deficient chronic granulomatous disease MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201282 p67phox-deficient chronic granulomatous disease MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201283 p40phox-deficient chronic granulomatous disease MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201287 Altman type IV sacrococcygeal teratoma MONDO:0042727 sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201288 Pelizaeus-Merzbacher disease MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201289 Pelizaeus-Merzbacher like disease MONDO:0017226 Pelizaeus-Merzbacher-like disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:0012905 hypomyelinating leukodystrophy 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201291 18q-syndrome MONDO:0011147 chromosome 18q deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201292 Allan-Herndon-Dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201293 Mitochondrial Hsp60 chaperonopathy MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201294 Salla disease MONDO:0011449 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201296 Hypomyelination and congenital cataract MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease MONDO:0012198 PCWH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201299 AGAT deficiency MONDO:0012996 AGAT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201300 GAMT deficiency MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201301 SLC6A8 deficiency MONDO:0010305 creatine transporter deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201302 Non-syndromic sagittal craniosynostosis MONDO:0018112 isolated scaphocephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201305 Non-syndromic metopic craniosynostosis MONDO:0018065 isolated trigonocephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201317 Anti-NMDA receptor encephalitis MONDO:0021081 anti-NMDA receptor encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201319 Relapsing-remitting multiple sclerosis MONDO:0005314 relapsing-remitting multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201320 Primary progressive multiple sclerosis MONDO:0000451 primary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201321 Secondary progressive multiple sclerosis MONDO:0000450 secondary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201322 Neuromyelitis optica MONDO:0019100 neuromyelitis optica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201341 Epidermolysis bullosa simplex MONDO:0017610 epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201342 Junctional epidermolysis bullosa MONDO:0017612 junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201343 Dystrophic epidermolysis bullosa MONDO:0017608 obsolete dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201345 Achondrogenesis type 2 MONDO:0008702 achondrogenesis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201345 Achondrogenesis type 2 MONDO:0008703 acromesomelic dysplasia 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201346 Hypochondrogenesis MONDO:0008703 acromesomelic dysplasia 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201346 Hypochondrogenesis MONDO:0019669 hypochondrogenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201347 Platyspondylic dysplasia, Torrance type MONDO:0007895 platyspondylic dysplasia, Torrance type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201348 Spondyloepiphyseal dysplasia congenita MONDO:0008471 spondyloepiphyseal dysplasia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201350 Kniest dysplasia MONDO:0007987 Kniest dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201351 Spondyloperipheral dysplasia MONDO:0010078 spondyloperipheral dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening MONDO:0012206 Czech dysplasia, metatarsal type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201354 Stickler syndrome type 1 MONDO:0007160 Stickler syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201358 CHILD syndrome MONDO:0010621 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201360 Brachytelephalangic chondrodysplasia punctata MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201361 Greenberg dysplasia MONDO:0008974 Greenberg dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201362 Astley-Kendall dysplasia MONDO:0019408 Astley-Kendall dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201364 Melorheostosis MONDO:0007970 melorheostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201365 Dysosteosclerosis MONDO:0009138 dysosteosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201366 Craniometaphyseal dysplasia MONDO:0015465 craniometaphyseal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201367 Metaphyseal dysplasias MONDO:0009943 Pyle disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201368 Craniodiaphyseal dysplasia MONDO:0009031 craniodiaphyseal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201369 Sclerosteosis MONDO:0017838 sclerosteosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex MONDO:0017610 epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201378 Herlitz junctional epidermolysis bullosa MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +NANDO:2201385 Galloway-Mowat syndrome MONDO:0009627 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 3dc6da83..c6734e56 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -585,9 +585,9 @@ $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv: tmp/ordo-subsets.tsv tmp/mondo.s .PHONY: external-content-ordo external-content-ordo: $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.owl $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv -$(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv: $(MAPPINGSDIR)/nando-mondo.sssom.tsv +$(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv: $(MAPPINGSDIR)/mondo-nando.sssom.tsv mkdir -p $(EXTERNAL_CONTENT_DIR) - # python $< $@ .... TODO @joeflack4 to fill in + python ../scripts/sssom_to_robot_template.py --inpath $^ --outpath $@ .PRECIOUS: $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv .PHONY: external-content-nord external-content-nando diff --git a/src/scripts/sssom_to_robot_template.py b/src/scripts/sssom_to_robot_template.py new file mode 100644 index 00000000..5ec4e0a8 --- /dev/null +++ b/src/scripts/sssom_to_robot_template.py @@ -0,0 +1,52 @@ +"""Convert SSSOM to ROBOT template.""" +from argparse import ArgumentParser +from pathlib import Path +from typing import Dict, Union + +import pandas as pd +from sssom import MappingSetDataFrame +from sssom.parsers import parse_sssom_table + +ROBOT_ROW = { + 'subject_id': 'ID', + 'subject_label': '', + 'object_id': 'A oboInOwl:hasDbXref', + 'object_label': '', + 'equivalence': '>A oboInOwl:source', + 'ORCID': '>A oboInOwl:source SPLIT=|', +} + + +def sssom_to_robot_template(inpath: Union[str, Path], outpath: Union[str, Path]): + """Convert SSSOM to ROBOT template.""" + msdf: MappingSetDataFrame = parse_sssom_table(inpath) + df: pd.DataFrame = msdf.df + + # Filter + df = df[df['predicate_id'] == 'skos:exactMatch'] + + # Conversion + df = df[['subject_id', 'subject_label', 'object_id', 'object_label']].sort_values(['subject_id', 'object_id']) + df['equivalence'] = 'MONDO:equivalentTo' + df['ORCID'] = '|'.join(msdf.metadata['creator_id']) + df = pd.concat([pd.DataFrame([ROBOT_ROW]), df]) + + # Write + df.to_csv(outpath, sep='\t', index=False) + + +def cli(): + """Command line interface""" + parser = ArgumentParser( + prog='sssom-to-robot-template', + description='Convert SSSOM to ROBOT template.') + parser.add_argument( + '-i', '--inpath', required=True, help='Path to input SSSOM TSV.') + parser.add_argument( + '-o', '--outpath', required=True, help='Path to output ROBOT template TSV.') + d: Dict = vars(parser.parse_args()) + sssom_to_robot_template(**d) + + +if __name__ == '__main__': + cli() \ No newline at end of file From b99351e21e95b4ba559ce6e3481d2796ec1239c2 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 17 May 2024 19:53:09 +0300 Subject: [PATCH 06/14] Update mapping set pipeline --- src/mappings/mondo-nando.sssom.tsv | 4721 +++--- src/mappings/nando-mondo.sssom.tsv | 2357 +++ .../external/nando-mappings.robot.owl | 13395 ++++++++++++++++ .../external/nando-mappings.robot.tsv | 4690 +++--- src/ontology/mondo-ingest.Makefile | 11 +- 5 files changed, 20470 insertions(+), 4704 deletions(-) create mode 100644 src/mappings/nando-mondo.sssom.tsv create mode 100644 src/ontology/external/nando-mappings.robot.owl diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index 505a746d..2827d3ec 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -1,2357 +1,2366 @@ -#curie_map: -# NANDO: "http://nanbyodata.jp/ontology/NANDO_" -# MONDO: "http://purl.obolibrary.org/obo/MONDO_" -# orcid: "https://orcid.org/" -#creator_id: -# - "orcid:0000-0003-0011-764X" -# - "orcid:0000-0002-0170-9172" -#license: "https://creativecommons.org/licenses/by/4.0/" -#mapping_set_title: "NANDO - Mondo mappings provided by nanbyodata.jp" -#mapping_set_description: "This mapping set is manually curated by the NANDO team at nanbyodata.jp." -#mapping_provider: "http://nanbyodata.jp" +# creator_id: +# - orcid:0000-0003-0011-764X +# - orcid:0000-0002-0170-9172 +# curie_map: +# MONDO: http://purl.obolibrary.org/obo/MONDO_ +# NANDO: http://nanbyodata.jp/ontology/NANDO_ +# orcid: https://orcid.org/ +# owl: http://www.w3.org/2002/07/owl# +# rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# +# rdfs: http://www.w3.org/2000/01/rdf-schema# +# semapv: https://w3id.org/semapv/vocab/ +# skos: http://www.w3.org/2004/02/skos/core# +# sssom: https://w3id.org/sssom/ +# license: https://creativecommons.org/licenses/by/4.0/ +# mapping_provider: http://nanbyodata.jp +# mapping_set_description: This mapping set is manually curated by the NANDO team at +# nanbyodata.jp. +# mapping_set_id: https://w3id.org/sssom/mappings/a6343dbe-7053-491b-8790-68defac5af21 +# mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification -NANDO:1100001 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration -NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0004955 obsolete metabolic syndrome semapv:ManualMappingCuration -NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0005066 metabolic disease semapv:ManualMappingCuration -NANDO:1100004 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration -NANDO:1100005 Cardiovascular disease skos:exactMatch MONDO:0004995 cardiovascular disorder semapv:ManualMappingCuration -NANDO:1100006 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration -NANDO:1100009 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration -NANDO:1100010 Respiratory disease skos:exactMatch MONDO:0005087 respiratory system disorder semapv:ManualMappingCuration -NANDO:1100013 Gastrointestinal disease skos:exactMatch MONDO:0004335 digestive system disorder semapv:ManualMappingCuration -NANDO:1100014 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration -NANDO:1100015 Otorhinolaryngological disease skos:exactMatch MONDO:0024623 otorhinolaryngologic disease semapv:ManualMappingCuration -NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0010735 Kennedy disease semapv:ManualMappingCuration -NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0016113 bulbospinal muscular atrophy semapv:ManualMappingCuration -NANDO:1200002 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:ManualMappingCuration -NANDO:1200003 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration -NANDO:1200004 Spinal muscular atrophy type I skos:exactMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:ManualMappingCuration -NANDO:1200005 Spinal muscular atrophy type II skos:exactMatch MONDO:0009673 spinal muscular atrophy, type II semapv:ManualMappingCuration -NANDO:1200006 Spinal muscular atrophy type III skos:exactMatch MONDO:0009672 spinal muscular atrophy, type III semapv:ManualMappingCuration -NANDO:1200007 Spinal muscular atrophy type IV skos:exactMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:ManualMappingCuration -NANDO:1200008 Primary lateral sclerosis skos:exactMatch MONDO:0018155 lateral sclerosis semapv:ManualMappingCuration -NANDO:1200009 Progressive supranuclear palsy skos:exactMatch MONDO:0019037 progressive supranuclear palsy semapv:ManualMappingCuration -NANDO:1200010 Parkinson's disease skos:exactMatch MONDO:0005180 Parkinson disease semapv:ManualMappingCuration -NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022308 corticobasal degeneration disorder semapv:ManualMappingCuration -NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022880 obsolete corticobasal degeneration semapv:ManualMappingCuration -NANDO:1200012 Huntington's disease skos:exactMatch MONDO:0007739 Huntington disease semapv:ManualMappingCuration -NANDO:1200013 Neuroacanthocytosis skos:exactMatch MONDO:0016987 neuroacanthocytosis semapv:ManualMappingCuration -NANDO:1200014 Chorea-acanthocytosis skos:exactMatch MONDO:0008695 chorea-acanthocytosis semapv:ManualMappingCuration -NANDO:1200015 McLeod syndrome skos:exactMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:ManualMappingCuration -NANDO:1200016 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration -NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:exactMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:ManualMappingCuration -NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:exactMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:ManualMappingCuration -NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:exactMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:ManualMappingCuration -NANDO:1200020 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration -NANDO:1200021 Congenital myasthenic syndrome skos:exactMatch MONDO:0018940 congenital myasthenic syndrome semapv:ManualMappingCuration -NANDO:1200023 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration -NANDO:1200024 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration -NANDO:1200025 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration -NANDO:1200026 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration -NANDO:1200027 Neuromyelitis optica spectrum disorders skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration -NANDO:1200028 Baló concentric sclerosis skos:exactMatch MONDO:0016430 Balo concentric sclerosis semapv:ManualMappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration -NANDO:1200031 Multifocal motor neuropathy skos:exactMatch MONDO:0018979 multifocal motor neuropathy semapv:ManualMappingCuration -NANDO:1200032 Sporadic inclusion body myositis skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration -NANDO:1200033 Crow-Fukase syndrome skos:exactMatch MONDO:0017364 POEMS syndrome semapv:ManualMappingCuration -NANDO:1200034 Multiple system atrophy skos:exactMatch MONDO:0007803 multiple system atrophy semapv:ManualMappingCuration -NANDO:1200035 Multiple system atrophy, cerebellar type skos:exactMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:ManualMappingCuration -NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:exactMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:ManualMappingCuration -NANDO:1200037 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration -NANDO:1200041 Spinocerebellar ataxia type 3 skos:exactMatch MONDO:0007182 Machado-Joseph disease semapv:ManualMappingCuration -NANDO:1200042 Spinocerebellar ataxia type 6 skos:exactMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:ManualMappingCuration -NANDO:1200043 Dentatorubropallidoluysian atrophy skos:exactMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:ManualMappingCuration -NANDO:1200044 Spinocerebellar ataxia type 31 skos:exactMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:ManualMappingCuration -NANDO:1200045 Spinocerebellar ataxia type 1 skos:exactMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:ManualMappingCuration -NANDO:1200046 Spinocerebellar ataxia type 2 skos:exactMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:ManualMappingCuration -NANDO:1200047 Spinocerebellar ataxia type 7 skos:exactMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:ManualMappingCuration -NANDO:1200048 Spinocerebellar ataxia type 36 skos:exactMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:ManualMappingCuration -NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:exactMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:ManualMappingCuration -NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:exactMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualMappingCuration -NANDO:1200052 Hereditary spastic paraplegia skos:exactMatch MONDO:0019064 hereditary spastic paraplegia semapv:ManualMappingCuration -NANDO:1200053 Pure hereditary spastic paraplegia skos:exactMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:ManualMappingCuration -NANDO:1200054 Complex hereditary spastic paraplegia skos:exactMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:ManualMappingCuration -NANDO:1200055 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration -NANDO:1200056 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration -NANDO:1200057 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration -NANDO:1200058 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration -NANDO:1200059 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration -NANDO:1200061 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration -NANDO:1200062 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration -NANDO:1200063 Niemann-Pick disease type C skos:exactMatch MONDO:0018982 Niemann-Pick disease type C semapv:ManualMappingCuration -NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration -NANDO:1200066 GM1 gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration -NANDO:1200067 Infantile GM1 gangliosidosis skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration -NANDO:1200068 Juvenile GM1 gangliosidosis skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration -NANDO:1200069 Adult GM1 gangliosidosis skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration -NANDO:1200070 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration -NANDO:1200071 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration -NANDO:1200072 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration -NANDO:1200073 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration -NANDO:1200074 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration -NANDO:1200075 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration -NANDO:1200077 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration -NANDO:1200078 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration -NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration -NANDO:1200082 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration -NANDO:1200083 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration -NANDO:1200086 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration -NANDO:1200094 Hurler syndrome skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration -NANDO:1200095 Scheie syndrome skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration -NANDO:1200096 Hurler-Scheie syndrome skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration -NANDO:1200097 Hunter syndrome skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration -NANDO:1200098 Hunter syndrome type A skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration -NANDO:1200099 Hunter syndrome type B skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration -NANDO:1200100 Sanfilippo disease skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration -NANDO:1200101 Sanfilippo disease type A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration -NANDO:1200102 Sanfilippo disease type B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration -NANDO:1200103 Sanfilippo disease type C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration -NANDO:1200104 Sanfilippo disease type D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration -NANDO:1200105 Morquio syndrome skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration -NANDO:1200106 Morquio syndrome type A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration -NANDO:1200107 Morquio syndrome type B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration -NANDO:1200108 Maroteaux-Lamy syndrome skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration -NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration -NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration -NANDO:1200111 Sly syndrome skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration -NANDO:1200115 Hyaluronidase deficiency skos:exactMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:ManualMappingCuration -NANDO:1200116 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration -NANDO:1200117 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration -NANDO:1200118 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration -NANDO:1200119 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration -NANDO:1200120 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration -NANDO:1200124 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration -NANDO:1200125 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration -NANDO:1200126 Alpha-mannosidosis skos:exactMatch MONDO:0009561 alpha-mannosidosis semapv:ManualMappingCuration -NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration -NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration -NANDO:1200128 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration -NANDO:1200129 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration -NANDO:1200130 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration -NANDO:1200133 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration -NANDO:1200134 Schindler disease skos:exactMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:ManualMappingCuration -NANDO:1200135 Schindler disease type I skos:exactMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:ManualMappingCuration -NANDO:1200136 Schindler disease type 2 skos:exactMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:ManualMappingCuration -NANDO:1200137 Schindler disease type 3 skos:exactMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:ManualMappingCuration -NANDO:1200138 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration -NANDO:1200139 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration -NANDO:1200142 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration -NANDO:1200143 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration -NANDO:1200144 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration -NANDO:1200145 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration -NANDO:1200146 Free sialic acid storage disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration -NANDO:1200147 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration -NANDO:1200148 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration -NANDO:1200149 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration -NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200157 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration -NANDO:1200161 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration -NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration -NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration -NANDO:1200163 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration -NANDO:1200164 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration -NANDO:1200165 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:1200168 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration -NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration -NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration -NANDO:1200175 Leigh's encephalomyelopathy skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration -NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration -NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration -NANDO:1200178 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration -NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100133 mitochondrial complex I deficiency semapv:ManualMappingCuration -NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:ManualMappingCuration -NANDO:1200181 Mitochondrial complex II deficiency skos:exactMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:ManualMappingCuration -NANDO:1200183 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration -NANDO:1200186 Prion disease skos:exactMatch MONDO:0005429 prion disease semapv:ManualMappingCuration -NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200188 Genetic prion diseases skos:exactMatch MONDO:0017234 inherited prion disease semapv:ManualMappingCuration -NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:ManualMappingCuration -NANDO:1200191 Fatal familial insomnia skos:exactMatch MONDO:0010808 fatal familial insomnia semapv:ManualMappingCuration -NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:exactMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200195 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:1200196 Typical subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:1200205 Progressive multifocal leukoencephalopathy skos:exactMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:ManualMappingCuration -NANDO:1200206 HTLV-1-associated myelopathy skos:exactMatch MONDO:0008039 tropical spastic paraparesis semapv:ManualMappingCuration -NANDO:1200207 Idiopathic basal ganglia calcification skos:exactMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:ManualMappingCuration -NANDO:1200208 Familial idiopathic basal ganglia calcification skos:exactMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:ManualMappingCuration -NANDO:1200209 Systemic amyloidosis skos:exactMatch MONDO:0017816 primary systemic amyloidosis semapv:ManualMappingCuration -NANDO:1200211 Amyloid light-chain amyloidosis skos:exactMatch MONDO:0019438 AL amyloidosis semapv:ManualMappingCuration -NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:exactMatch MONDO:0018018 wild type ATTR amyloidosis semapv:ManualMappingCuration -NANDO:1200214 Familial amyloid polyneuropathy skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration -NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration -NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:ManualMappingCuration -NANDO:1200216 Distal myopathy skos:exactMatch MONDO:0018949 distal myopathy semapv:ManualMappingCuration -NANDO:1200217 Miyoshi myopathy skos:exactMatch MONDO:0009685 Miyoshi myopathy semapv:ManualMappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0011603 GNE myopathy semapv:ManualMappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:ManualMappingCuration -NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:ManualMappingCuration -NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 oculopharyngodistal myopathy semapv:ManualMappingCuration -NANDO:1200220 Bethlem Myopathy skos:exactMatch MONDO:0008029 Bethlem myopathy semapv:ManualMappingCuration -NANDO:1200222 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration -NANDO:1200223 X-linked Myopathy with excessive autophagy skos:exactMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:ManualMappingCuration -NANDO:1200224 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration -NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration -NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration -NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration -NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration -NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0007039 neurofibromatosis type 2 semapv:ManualMappingCuration -NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration -NANDO:1200228 Pemphigus skos:exactMatch MONDO:0006594 pemphigus semapv:ManualMappingCuration -NANDO:1200229 Pemphigus vulgaris skos:exactMatch MONDO:0008219 pemphigus vulgaris semapv:ManualMappingCuration -NANDO:1200230 Pemphigus foliaceus skos:exactMatch MONDO:0019324 pemphigus foliaceus semapv:ManualMappingCuration -NANDO:1200231 Paraneoplastic pemphigus skos:exactMatch MONDO:0018974 paraneoplastic pemphigus semapv:ManualMappingCuration -NANDO:1200232 Pemphigus vegetans skos:exactMatch MONDO:0019322 pemphigus vegetans semapv:ManualMappingCuration -NANDO:1200233 Pemphigus erythematosus skos:exactMatch MONDO:0019323 pemphigus erythematosus semapv:ManualMappingCuration -NANDO:1200234 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration -NANDO:1200235 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration -NANDO:1200236 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration -NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration -NANDO:1200239 Kindler syndrome skos:exactMatch MONDO:0008260 Kindler syndrome semapv:ManualMappingCuration -NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:ManualMappingCuration -NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration -NANDO:1200243 Impetigo herpetiformis skos:exactMatch MONDO:0004591 impetigo herpetiformis semapv:ManualMappingCuration -NANDO:1200244 Acrodermatitis continua of Hallopeau skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration -NANDO:1200245 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration -NANDO:1200246 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration -NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualMappingCuration -NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration -NANDO:1200258 Giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration -NANDO:1200259 Cranial giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration -NANDO:1200260 Large-vessel giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration -NANDO:1200261 Polyarteritis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration -NANDO:1200262 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration -NANDO:1200263 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:1200265 Rheumatoid vasculitis skos:exactMatch MONDO:0043267 rheumatoid vasculitis semapv:ManualMappingCuration -NANDO:1200266 Buerger's disease skos:exactMatch MONDO:0008889 thromboangiitis obliterans semapv:ManualMappingCuration -NANDO:1200267 Primary antiphospholipid antibody syndrome skos:exactMatch MONDO:0005204 primary antiphospholipid syndrome semapv:ManualMappingCuration -NANDO:1200270 Catastrophic antiphospholipid syndrome skos:exactMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:ManualMappingCuration -NANDO:1200271 Antiphospholipid antibody-related disease skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration -NANDO:1200272 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration -NANDO:1200274 Dermatomyositis skos:exactMatch MONDO:0016367 dermatomyositis semapv:ManualMappingCuration -NANDO:1200275 Amyopathic dermatomyositis skos:exactMatch MONDO:0043317 amyopathic dermatomyositis semapv:ManualMappingCuration -NANDO:1200276 Polymyositis skos:exactMatch MONDO:0019127 polymyositis semapv:ManualMappingCuration -NANDO:1200277 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration -NANDO:1200278 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration -NANDO:1200279 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration -NANDO:1200280 Primary Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration -NANDO:1200282 Adult Still's disease skos:exactMatch MONDO:0019355 adult-onset Still disease semapv:ManualMappingCuration -NANDO:1200283 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration -NANDO:1200284 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration -NANDO:1200286 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:1200292 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:1200294 Secondary restrictive cardiomyopathy skos:exactMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:1200295 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration -NANDO:1200296 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration -NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration -NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration -NANDO:1200302 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration -NANDO:1200303 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration -NANDO:1200304 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration -NANDO:1200305 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration -NANDO:1200306 Warm antibody hemolytic anemia skos:exactMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:ManualMappingCuration -NANDO:1200307 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration -NANDO:1200308 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration -NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:exactMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:ManualMappingCuration -NANDO:1200310 Evans syndrome skos:exactMatch MONDO:0016030 Evans syndrome semapv:ManualMappingCuration -NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration -NANDO:1200315 Idiopathic thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200316 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200320 Primary immunodeficiency syndrome skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration -NANDO:1200321 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration -NANDO:1200322 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration -NANDO:1200323 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration -NANDO:1200324 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration -NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration -NANDO:1200326 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration -NANDO:1200327 Zap-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration -NANDO:1200328 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration -NANDO:1200329 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration -NANDO:1200330 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration -NANDO:1200331 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration -NANDO:1200332 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration -NANDO:1200333 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration -NANDO:1200334 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration -NANDO:1200336 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration -NANDO:1200337 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration -NANDO:1200338 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration -NANDO:1200340 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration -NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration -NANDO:1200342 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration -NANDO:1200343 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration -NANDO:1200344 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration -NANDO:1200345 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration -NANDO:1200346 IgG subclass deficiency skos:exactMatch MONDO:0045045 selective IgG immunodeficiency semapv:ManualMappingCuration -NANDO:1200347 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration -NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration -NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration -NANDO:1200350 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration -NANDO:1200351 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration -NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration -NANDO:1200353 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration -NANDO:1200354 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration -NANDO:1200355 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration -NANDO:1200356 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration -NANDO:1200357 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration -NANDO:1200358 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration -NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration -NANDO:1200361 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration -NANDO:1200362 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration -NANDO:1200363 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration -NANDO:1200364 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration -NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration -NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration -NANDO:1200366 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration -NANDO:1200367 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration -NANDO:1200368 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration -NANDO:1200369 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration -NANDO:1200371 Ossification of posterior longitudinal ligament skos:exactMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:ManualMappingCuration -NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:exactMatch MONDO:0005965 spinal stenosis semapv:ManualMappingCuration -NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:exactMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:ManualMappingCuration -NANDO:1200375 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration -NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration -NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:exactMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:ManualMappingCuration -NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:exactMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:ManualMappingCuration -NANDO:1200379 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration -NANDO:1200381 Central precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration -NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:exactMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualMappingCuration -NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:exactMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:ManualMappingCuration -NANDO:1200385 Growth hormone secreting pituitary adenoma skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration -NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration -NANDO:1200387 Hypopituitarism syndrome skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration -NANDO:1200388 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration -NANDO:1200390 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration -NANDO:1200394 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration -NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration -NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration -NANDO:1200396 Congenital adrenal enzyme deficiency skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration -NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration -NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:1200399 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:1200400 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:1200401 17-α-Hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:1200402 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration -NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration -NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:1200404 DAX1 abnormality skos:exactMatch MONDO:0010226 46,XY sex reversal 2 semapv:ManualMappingCuration -NANDO:1200405 SF-1 abnormality skos:exactMatch MONDO:0013066 46,XY sex reversal 3 semapv:ManualMappingCuration -NANDO:1200406 IMAge syndrome skos:exactMatch MONDO:0013873 IMAGe syndrome semapv:ManualMappingCuration -NANDO:1200408 MC2R deficiency skos:exactMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:ManualMappingCuration -NANDO:1200409 MRAP deficiency skos:exactMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:ManualMappingCuration -NANDO:1200410 Allgrove syndrome skos:exactMatch MONDO:0009279 triple-A syndrome semapv:ManualMappingCuration -NANDO:1200411 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration -NANDO:1200411 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration -NANDO:1200412 Autoimmune Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration -NANDO:1200415 Sarcoidosis skos:exactMatch MONDO:0019338 sarcoidosis semapv:ManualMappingCuration -NANDO:1200416 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200417 Idiopathic pulmonary fibrosis skos:exactMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:ManualMappingCuration -NANDO:1200419 Non-specific interstitial pneumonia skos:exactMatch MONDO:0019622 non-specific interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200420 Acute interstitial pneumonia skos:exactMatch MONDO:0019203 acute interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200421 Cryptogenic organizing pneumonia skos:exactMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:ManualMappingCuration -NANDO:1200422 Desquamative interstitial pneumonia skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200424 Lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200425 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration -NANDO:1200427 Pulmonary veno-occlusive disease skos:exactMatch MONDO:0009937 pulmonary venoocclusive disease semapv:ManualMappingCuration -NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:exactMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:ManualMappingCuration -NANDO:1200430 Lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 lymphangioleiomyomatosis semapv:ManualMappingCuration -NANDO:1200431 Retinitis pigmentosa skos:exactMatch MONDO:0019200 retinitis pigmentosa semapv:ManualMappingCuration -NANDO:1200437 Budd-Chiari syndrome skos:exactMatch MONDO:0010947 Budd-Chiari syndrome semapv:ManualMappingCuration -NANDO:1200438 Idiopathic portal hypertension skos:exactMatch MONDO:0021969 Banti syndrome semapv:ManualMappingCuration -NANDO:1200439 Primary biliary cholangitis skos:exactMatch MONDO:0005388 primary biliary cholangitis semapv:ManualMappingCuration -NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration -NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration -NANDO:1200441 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration -NANDO:1200442 Typical autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration -NANDO:1200444 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration -NANDO:1200445 small bowel Crohn disease skos:exactMatch MONDO:0005539 small bowel Crohn disease semapv:ManualMappingCuration -NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration -NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005532 Crohn's colitis semapv:ManualMappingCuration -NANDO:1200447 Crohn ileocolitis skos:exactMatch MONDO:0005534 ileocolitis semapv:ManualMappingCuration -NANDO:1200449 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration -NANDO:1200450 Pan-ulcerative colitis skos:exactMatch MONDO:0005536 pancolitis semapv:ManualMappingCuration -NANDO:1200451 Left-sided colitis skos:exactMatch MONDO:0005533 distal colitis semapv:ManualMappingCuration -NANDO:1200454 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration -NANDO:1200456 Eosinophilic esophagitis skos:exactMatch MONDO:0005361 eosinophilic esophagitis semapv:ManualMappingCuration -NANDO:1200457 Eosinophilic gastroenteritis skos:exactMatch MONDO:0016129 eosinophilic gastroenteritis semapv:ManualMappingCuration -NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration -NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration -NANDO:1200460 Congenital isolated hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration -NANDO:1200461 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration -NANDO:1200462 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration -NANDO:1200463 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration -NANDO:1200464 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration -NANDO:1200465 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration -NANDO:1200466 Familial cold autoinflammatorysyndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:1200467 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration -NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration -NANDO:1200469 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:1200470 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration -NANDO:1200473 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration -NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration -NANDO:1200476 Blau syndrome skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration -NANDO:1200477 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration -NANDO:1200478 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration -NANDO:1200479 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration -NANDO:1200481 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration -NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration -NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration -NANDO:1200483 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration -NANDO:1200485 Marinesco-Sjogren syndrome skos:exactMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:ManualMappingCuration -NANDO:1200486 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration -NANDO:1200487 Dystrophinopathies skos:exactMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:ManualMappingCuration -NANDO:1200488 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration -NANDO:1200489 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration -NANDO:1200490 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration -NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration -NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration -NANDO:1200493 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:ManualMappingCuration -NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration -NANDO:1200495 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration -NANDO:1200496 Non-dystrophic myotonia skos:exactMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:ManualMappingCuration -NANDO:1200497 Myotonia congenita skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration -NANDO:1200498 Thomsen disease skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration -NANDO:1200499 Becker disease skos:exactMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:ManualMappingCuration -NANDO:1200500 Sodium channel myotonia skos:exactMatch MONDO:0018959 potassium-aggravated myotonia semapv:ManualMappingCuration -NANDO:1200501 Paramyotonia congenita skos:exactMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:ManualMappingCuration -NANDO:1200502 Hereditary periodic paralysis skos:exactMatch MONDO:0000995 familial periodic paralysis semapv:ManualMappingCuration -NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:exactMatch MONDO:0008223 hypokalemic periodic paralysis semapv:ManualMappingCuration -NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:exactMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:ManualMappingCuration -NANDO:1200506 Syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration -NANDO:1200507 Symptomatic syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration -NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration -NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration -NANDO:1200510 Isaacs syndrome skos:exactMatch MONDO:0019399 Isaac syndrome semapv:ManualMappingCuration -NANDO:1200511 Hereditary dystonia skos:exactMatch MONDO:0044807 inherited dystonia semapv:ManualMappingCuration -NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration -NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0044808 obsolete early onset primary dystonia semapv:ManualMappingCuration -NANDO:1200513 Dystonia 2 skos:exactMatch MONDO:0009141 torsion dystonia 2 semapv:ManualMappingCuration -NANDO:1200514 Dystonia 3 skos:exactMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:ManualMappingCuration -NANDO:1200515 Dystonia 4 skos:exactMatch MONDO:0007493 torsion dystonia 4 semapv:ManualMappingCuration -NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0007495 dystonia 5 semapv:ManualMappingCuration -NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration -NANDO:1200517 Dystonia 6 skos:exactMatch MONDO:0011264 torsion dystonia 6 semapv:ManualMappingCuration -NANDO:1200518 Dystonia 7 skos:exactMatch MONDO:0011200 torsion dystonia 7 semapv:ManualMappingCuration -NANDO:1200519 Dystonia 8 skos:exactMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualMappingCuration -NANDO:1200520 Dystonia 9 skos:exactMatch MONDO:0010983 dystonia 9 semapv:ManualMappingCuration -NANDO:1200521 Dystonia 10 skos:exactMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:ManualMappingCuration -NANDO:1200522 Dystonia 11 skos:exactMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:ManualMappingCuration -NANDO:1200523 Dystonia 12 skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration -NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration -NANDO:1200525 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:exactMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:ManualMappingCuration -NANDO:1200527 Dystonia 13 skos:exactMatch MONDO:0011886 torsion dystonia 13 semapv:ManualMappingCuration -NANDO:1200528 Dystonia 15 skos:exactMatch MONDO:0011844 myoclonic dystonia 15 semapv:ManualMappingCuration -NANDO:1200529 Dystonia 16 skos:exactMatch MONDO:0012789 dystonia 16 semapv:ManualMappingCuration -NANDO:1200530 Dystonia 17 skos:exactMatch MONDO:0012895 torsion dystonia 17 semapv:ManualMappingCuration -NANDO:1200531 Dystonia 18 skos:exactMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:ManualMappingCuration -NANDO:1200532 Dystonia 19 skos:exactMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:ManualMappingCuration -NANDO:1200533 Dystonia 20 skos:exactMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualMappingCuration -NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:exactMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:ManualMappingCuration -NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:exactMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:ManualMappingCuration -NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:ManualMappingCuration -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:ManualMappingCuration -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:1200542 Neuroferritinopathy skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration -NANDO:1200543 Superficial siderosis skos:exactMatch MONDO:0016594 superficial siderosis semapv:ManualMappingCuration -NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0010829 CARASIL syndrome semapv:ManualMappingCuration -NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:exactMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:ManualMappingCuration -NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:exactMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:ManualMappingCuration -NANDO:1200547 Perry syndrome skos:exactMatch MONDO:0008201 Perry syndrome semapv:ManualMappingCuration -NANDO:1200548 Frontotemporal lobar degeneration skos:exactMatch MONDO:0017276 frontotemporal dementia semapv:ManualMappingCuration -NANDO:1200549 Behavioral variant frontotemporal dementia skos:exactMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:ManualMappingCuration -NANDO:1200550 Semantic dementia skos:exactMatch MONDO:0010857 semantic dementia semapv:ManualMappingCuration -NANDO:1200551 Bickerstaff's brainstem encephalitis skos:exactMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:ManualMappingCuration -NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration -NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration -NANDO:1200554 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration -NANDO:1200555 Alexander disease type I skos:exactMatch MONDO:0018209 Alexander disease type I semapv:ManualMappingCuration -NANDO:1200556 Alexander disease type II skos:exactMatch MONDO:0018210 Alexander disease type II semapv:ManualMappingCuration -NANDO:1200558 Congenital suprabulbar paresis skos:exactMatch MONDO:0008503 Worster-Drought syndrome semapv:ManualMappingCuration -NANDO:1200559 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration -NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration -NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration -NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:ManualMappingCuration -NANDO:1200562 Aicardi syndrome skos:exactMatch MONDO:0010568 Aicardi syndrome semapv:ManualMappingCuration -NANDO:1200563 Hemimegalencephaly skos:exactMatch MONDO:0020492 hemimegalencephaly semapv:ManualMappingCuration -NANDO:1200564 Focal cortical dysplasia skos:exactMatch MONDO:0019009 isolated focal cortical dysplasia semapv:ManualMappingCuration -NANDO:1200565 Focal cortical dysplasia type 1a skos:exactMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:ManualMappingCuration -NANDO:1200566 Focal cortical dysplasia type 1b skos:exactMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:ManualMappingCuration -NANDO:1200567 Focal cortical dysplasia type 1c skos:exactMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:ManualMappingCuration -NANDO:1200574 Neuronal migration defects skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration -NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration -NANDO:1200576 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration -NANDO:1200577 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration -NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration -NANDO:1200579 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration -NANDO:1200580 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration -NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration -NANDO:1200582 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration -NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration -NANDO:1200584 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration -NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration -NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration -NANDO:1200587 Dravet syndrome skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration -NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:exactMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:ManualMappingCuration -NANDO:1200589 Myoclonic absence epilepsy skos:exactMatch MONDO:0019487 epilepsy with myoclonic absences semapv:ManualMappingCuration -NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:exactMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:ManualMappingCuration -NANDO:1200591 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration -NANDO:1200592 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration -NANDO:1200593 Ohtahara syndrome skos:exactMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:ManualMappingCuration -NANDO:1200594 Early myoclonic encephalopathy skos:exactMatch MONDO:0016022 early myoclonic encephalopathy semapv:ManualMappingCuration -NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:ManualMappingCuration -NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:ManualMappingCuration -NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:exactMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:ManualMappingCuration -NANDO:1200597 Ring chromosome 20 syndrome skos:exactMatch MONDO:0015436 ring chromosome 20 semapv:ManualMappingCuration -NANDO:1200598 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration -NANDO:1200599 PCDH19-related syndrome skos:exactMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:ManualMappingCuration -NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0019123 continuous spikes and waves during sleep semapv:ManualMappingCuration -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:ManualMappingCuration -NANDO:1200602 Landau-Kleffner syndrome skos:exactMatch MONDO:0009509 Landau-Kleffner syndrome semapv:ManualMappingCuration -NANDO:1200603 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration -NANDO:1200604 Typical Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration -NANDO:1200605 Atypical Rett syndrome skos:exactMatch MONDO:0017746 atypical Rett syndrome semapv:ManualMappingCuration -NANDO:1200606 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration -NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration -NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration -NANDO:1200608 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration -NANDO:1200609 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration -NANDO:1200610 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration -NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:1200613 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:1200614 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration -NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration -NANDO:1200616 Congenital ichthyosiform erythroderma skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration -NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0017778 lamellar ichthyosis semapv:ManualMappingCuration -NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration -NANDO:1200618 Ichthyosis syndrome skos:exactMatch MONDO:0019269 ichthyosis semapv:ManualMappingCuration -NANDO:1200619 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration -NANDO:1200620 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration -NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration -NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration -NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration -NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration -NANDO:1200624 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration -NANDO:1200625 Recessive X-linked ichtyosis skos:exactMatch MONDO:0010622 recessive X-linked ichthyosis semapv:ManualMappingCuration -NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:exactMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:ManualMappingCuration -NANDO:1200627 Trichothiodystrophy skos:exactMatch MONDO:0018053 trichothiodystrophy semapv:ManualMappingCuration -NANDO:1200628 Ichthyosis follicularis skos:exactMatch MONDO:0043094 ichthyosis, follicular semapv:ManualMappingCuration -NANDO:1200629 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration -NANDO:1200630 Conradi Hünermann Happle syndrome skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration -NANDO:1200631 Benign familial pemphigus skos:exactMatch MONDO:0008218 Hailey-Hailey disease semapv:ManualMappingCuration -NANDO:1200633 Bullous pemphigoid skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration -NANDO:1200634 Mucous membrane pemphigoid skos:exactMatch MONDO:0018746 mucous membrane pemphigoid semapv:ManualMappingCuration -NANDO:1200635 Epidermolysis bullosa acquisita skos:exactMatch MONDO:0018747 acquired epidermolysis bullosa semapv:ManualMappingCuration -NANDO:1200637 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration -NANDO:1200638 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:ManualMappingCuration -NANDO:1200639 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration -NANDO:1200640 Griscelli syndrome skos:exactMatch MONDO:0018306 Griscelli syndrome semapv:ManualMappingCuration -NANDO:1200641 Non-syndromic oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration -NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration -NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration -NANDO:1200643 Pseudoxanthoma elasticum skos:exactMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:ManualMappingCuration -NANDO:1200644 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration -NANDO:1200645 Ehlers-Danlos Syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration -NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration -NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration -NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration -NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration -NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration -NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration -NANDO:1200653 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration -NANDO:1200654 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration -NANDO:1200655 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration -NANDO:1200656 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration -NANDO:1200657 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration -NANDO:1200658 Nasu-Hakola disease skos:exactMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:ManualMappingCuration -NANDO:1200659 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration -NANDO:1200660 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration -NANDO:1200661 Joubert syndrome and related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration -NANDO:1200662 Arima syndrome skos:exactMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:ManualMappingCuration -NANDO:1200663 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration -NANDO:1200664 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration -NANDO:1200665 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration -NANDO:1200666 Crouzon's syndrome skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration -NANDO:1200667 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration -NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration -NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration -NANDO:1200669 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration -NANDO:1200670 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration -NANDO:1200671 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:ManualMappingCuration -NANDO:1200672 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration -NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0007029 branchio-oto-renal syndrome semapv:ManualMappingCuration -NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0018878 branchiootic syndrome semapv:ManualMappingCuration -NANDO:1200676 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration -NANDO:1200677 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration -NANDO:1200678 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration -NANDO:1200679 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration -NANDO:1200680 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration -NANDO:1200681 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration -NANDO:1200682 1p36 deletion syndrome skos:exactMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:ManualMappingCuration -NANDO:1200683 4p deletion syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration -NANDO:1200684 5p deletion syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration -NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:exactMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:ManualMappingCuration -NANDO:1200686 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration -NANDO:1200687 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration -NANDO:1200689 Emanuel syndrome skos:exactMatch MONDO:0012176 Emanuel syndrome semapv:ManualMappingCuration -NANDO:1200690 Fragile X syndrome related diseases skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration -NANDO:1200691 Fragile X tremor/ataxia syndrome skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration -NANDO:1200692 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration -NANDO:1200698 Corrected transposition of great arteries skos:exactMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:ManualMappingCuration -NANDO:1200699 Complete transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:1200704 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration -NANDO:1200705 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration -NANDO:1200706 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration -NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration -NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration -NANDO:1200709 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration -NANDO:1200710 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration -NANDO:1200711 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration -NANDO:1200712 Alport's syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration -NANDO:1200713 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration -NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration -NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:ManualMappingCuration -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration -NANDO:1200718 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration -NANDO:1200719 Primary nephrotic syndrome skos:exactMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:ManualMappingCuration -NANDO:1200720 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration -NANDO:1200721 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration -NANDO:1200722 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration -NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration -NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration -NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:exactMatch MONDO:0019736 dense deposit disease semapv:ManualMappingCuration -NANDO:1200741 Henoch-Schonlein purpura nephritis skos:exactMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:ManualMappingCuration -NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration -NANDO:1200743 Interstitial cystitis (Hunner type) skos:exactMatch MONDO:0018301 interstitial cystitis semapv:ManualMappingCuration -NANDO:1200744 Osler disease skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration -NANDO:1200745 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration -NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:exactMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200750 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200752 Obesity hypoventilation syndrome skos:exactMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:ManualMappingCuration -NANDO:1200753 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration -NANDO:1200755 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration -NANDO:1200756 Carney complex skos:exactMatch MONDO:0015285 Carney complex semapv:ManualMappingCuration -NANDO:1200757 Wolfram syndrome skos:exactMatch MONDO:0018105 Wolfram syndrome semapv:ManualMappingCuration -NANDO:1200758 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration -NANDO:1200759 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration -NANDO:1200760 Zellweger syndrome skos:exactMatch MONDO:0019609 Zellweger spectrum disorders semapv:ManualMappingCuration -NANDO:1200761 Neonatal adrenoleukodystrophy skos:exactMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:1200762 Infantile Refsum disease skos:exactMatch MONDO:0019174 obsolete infantile Refsum disease semapv:ManualMappingCuration -NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:ManualMappingCuration -NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:exactMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:ManualMappingCuration -NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:ManualMappingCuration -NANDO:1200766 D-bifunctional protein deficiency skos:exactMatch MONDO:0009855 d-bifunctional protein deficiency semapv:ManualMappingCuration -NANDO:1200767 Sterol carrier protein 2 deficiency skos:exactMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:ManualMappingCuration -NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:exactMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:ManualMappingCuration -NANDO:1200769 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration -NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:exactMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:ManualMappingCuration -NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:ManualMappingCuration -NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:ManualMappingCuration -NANDO:1200773 Primary hyperoxaluria type 1 skos:exactMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:ManualMappingCuration -NANDO:1200774 Acatalasemia skos:exactMatch MONDO:0013571 acatalasia semapv:ManualMappingCuration -NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration -NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration -NANDO:1200776 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration -NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:ManualMappingCuration -NANDO:1200780 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration -NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:exactMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:ManualMappingCuration -NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:exactMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:ManualMappingCuration -NANDO:1200784 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration -NANDO:1200785 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration -NANDO:1200786 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration -NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration -NANDO:1200788 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration -NANDO:1200789 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration -NANDO:1200790 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration -NANDO:1200791 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration -NANDO:1200792 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration -NANDO:1200793 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration -NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:exactMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualMappingCuration -NANDO:1200795 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration -NANDO:1200796 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration -NANDO:1200797 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration -NANDO:1200798 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration -NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:ManualMappingCuration -NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration -NANDO:1200800 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:1200801 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:1200802 Urea cycle disorder skos:exactMatch MONDO:0004739 urea cycle disorder semapv:ManualMappingCuration -NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration -NANDO:1200804 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration -NANDO:1200805 Classic citrullinemia skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration -NANDO:1200806 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration -NANDO:1200807 Argininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration -NANDO:1200808 NAGS deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration -NANDO:1200809 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration -NANDO:1200810 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration -NANDO:1200811 Porphyria skos:exactMatch MONDO:0037939 porphyria semapv:ManualMappingCuration -NANDO:1200812 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration -NANDO:1200813 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration -NANDO:1200814 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:1200816 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration -NANDO:1200818 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:1200819 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration -NANDO:1200820 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration -NANDO:1200821 Holocarboxylase synthetase deficiency skos:exactMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:ManualMappingCuration -NANDO:1200822 Biotinidase deficiency skos:exactMatch MONDO:0009665 biotinidase deficiency semapv:ManualMappingCuration -NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration -NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0016118 obsolete muscular glycogenosis semapv:ManualMappingCuration -NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:1200825 Glycogen storage diseases type II skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration -NANDO:1200826 Glycogen storage diseases type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration -NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0008222 Andersen-Tawil syndrome semapv:ManualMappingCuration -NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration -NANDO:1200828 Glycogen storage diseases type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration -NANDO:1200829 Glycogen storage diseases type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration -NANDO:1200830 Glycogen storage diseases type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration -NANDO:1200832 Glycogen storage diseases type X skos:exactMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:ManualMappingCuration -NANDO:1200833 Glycogen storage diseases type XI skos:exactMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:ManualMappingCuration -NANDO:1200834 Glycogen storage diseases type XII skos:exactMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:ManualMappingCuration -NANDO:1200835 Glycogen storage diseases type XIII skos:exactMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:ManualMappingCuration -NANDO:1200836 Glycogen storage diseases type XIV skos:exactMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:ManualMappingCuration -NANDO:1200837 Glycogen storage diseases type XV skos:exactMatch MONDO:0013291 glycogen storage disease XV semapv:ManualMappingCuration -NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0002412 disorder of glycogen metabolism semapv:ManualMappingCuration -NANDO:1200840 Hepatic glycogen storage disease type Ia skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration -NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration -NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:ManualMappingCuration -NANDO:1200844 Hepatic GSD type IIIc skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration -NANDO:1200846 Hepatic glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration -NANDO:1200847 Hepatic glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration -NANDO:1200848 Hepatic glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration -NANDO:1200849 Hepatic glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration -NANDO:1200850 Hepatic glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration -NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0009515 Norum disease semapv:ManualMappingCuration -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0018999 LCAT deficiency semapv:ManualMappingCuration -NANDO:1200853 Sitosterolemia skos:exactMatch MONDO:0008863 sitosterolemia semapv:ManualMappingCuration -NANDO:1200854 Tangier disease skos:exactMatch MONDO:0008783 Tangier disease semapv:ManualMappingCuration -NANDO:1200856 Cerebrotendinous xanthomatosis skos:exactMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:ManualMappingCuration -NANDO:1200857 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration -NANDO:1200858 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration -NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0006536 congenital generalized lipodystrophy semapv:ManualMappingCuration -NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration -NANDO:1200860 Acquired generalized lipodystrophy skos:exactMatch MONDO:0019193 acquired generalized lipodystrophy semapv:ManualMappingCuration -NANDO:1200861 Familial partial lipodystrophy skos:exactMatch MONDO:0020088 familial partial lipodystrophy semapv:ManualMappingCuration -NANDO:1200862 Acquired partial lipodystrophy skos:exactMatch MONDO:0012104 acquired partial lipodystrophy semapv:ManualMappingCuration -NANDO:1200863 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration -NANDO:1200864 Typical familial Mediterranean fever skos:exactMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:ManualMappingCuration -NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration -NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0012481 mevalonic aciduria semapv:ManualMappingCuration -NANDO:1200867 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration -NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration -NANDO:1200870 Ankylosing spondylitis skos:exactMatch MONDO:0005306 ankylosing spondylitis semapv:ManualMappingCuration -NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration -NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration -NANDO:1200873 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration -NANDO:1200874 Thanatophoric dysplasia skos:exactMatch MONDO:0017042 thanatophoric dysplasia semapv:ManualMappingCuration -NANDO:1200875 Thanatophoric dysplasia type 1 skos:exactMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:ManualMappingCuration -NANDO:1200876 Thanatophoric dysplasia type 2 skos:exactMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:ManualMappingCuration -NANDO:1200877 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration -NANDO:1200879 obsolete Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration -NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration -NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:ManualMappingCuration -NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration -NANDO:1200885 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration -NANDO:1200886 Congenital dyserythropoietic anemia type I skos:exactMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:ManualMappingCuration -NANDO:1200887 Congenital dyserythropoietic anemia type II skos:exactMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:ManualMappingCuration -NANDO:1200888 Congenital dyserythropoietic anemia type III skos:exactMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:ManualMappingCuration -NANDO:1200890 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration -NANDO:1200891 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration -NANDO:1200893 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration -NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:exactMatch MONDO:0020599 acquired coagulation factor deficiency semapv:ManualMappingCuration -NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:exactMatch MONDO:0021133 acquired factor XIII deficiency semapv:ManualMappingCuration -NANDO:1200898 Acquired hemophilia A skos:exactMatch MONDO:0019139 acquired hemophilia semapv:ManualMappingCuration -NANDO:1200899 Acquired von Willebrand disease skos:exactMatch MONDO:0020460 acquired von willebrand syndrome semapv:ManualMappingCuration -NANDO:1200901 Cronkhite-Canada syndrome skos:exactMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:ManualMappingCuration -NANDO:1200903 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration -NANDO:1200909 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration -NANDO:1200910 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration -NANDO:1200911 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration -NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration -NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration -NANDO:1200918 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration -NANDO:1200919 Typical Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration -NANDO:1200921 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration -NANDO:1200922 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration -NANDO:1200923 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration -NANDO:1200924 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration -NANDO:1200925 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration -NANDO:1200928 IgG4-related sclerosing cholangitis skos:exactMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:ManualMappingCuration -NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:ManualMappingCuration -NANDO:1200930 IgG4-related kidney disease skos:exactMatch MONDO:0018671 IgG4-related kidney disease semapv:ManualMappingCuration -NANDO:1200931 Macular dystrophy skos:exactMatch MONDO:0020242 hereditary macular dystrophy semapv:ManualMappingCuration -NANDO:1200932 Vitelliform macular dystrophy skos:exactMatch MONDO:0000390 vitelliform macular dystrophy semapv:ManualMappingCuration -NANDO:1200933 Stargardt disease skos:exactMatch MONDO:0019353 Stargardt disease semapv:ManualMappingCuration -NANDO:1200934 Occult macular dystrophy skos:exactMatch MONDO:0013316 occult macular dystrophy semapv:ManualMappingCuration -NANDO:1200936 Cone dystrophy skos:exactMatch MONDO:0000455 cone dystrophy semapv:ManualMappingCuration -NANDO:1200937 Cone-rod dystrophy skos:exactMatch MONDO:0015993 cone-rod dystrophy semapv:ManualMappingCuration -NANDO:1200938 X-linked juvenile retinoschisis skos:exactMatch MONDO:0010725 X-linked retinoschisis semapv:ManualMappingCuration -NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0004890 partial central choroid dystrophy semapv:ManualMappingCuration -NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0008982 central areolar choroidal dystrophy semapv:ManualMappingCuration -NANDO:1200940 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration -NANDO:1200941 Usher syndrome skos:exactMatch MONDO:0019501 Usher syndrome semapv:ManualMappingCuration -NANDO:1200942 Usher syndrome type I skos:exactMatch MONDO:0010168 Usher syndrome type 1 semapv:ManualMappingCuration -NANDO:1200943 Usher syndrome Type II skos:exactMatch MONDO:0016484 Usher syndrome type 2 semapv:ManualMappingCuration -NANDO:1200944 Usher syndrome Type III skos:exactMatch MONDO:0016485 Usher syndrome type 3 semapv:ManualMappingCuration -NANDO:1200948 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration -NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration -NANDO:1200951 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration -NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:ManualMappingCuration -NANDO:1200953 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration -NANDO:1200954 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration -NANDO:1200955 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration -NANDO:1200956 Benign adult familial myoclonus epilepsy skos:exactMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:ManualMappingCuration -NANDO:1200957 Congenital anomalies syndrome skos:exactMatch MONDO:0000839 obsolete congenital abnormality semapv:ManualMappingCuration -NANDO:1200958 Partial trisomy 1q skos:exactMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:ManualMappingCuration -NANDO:1200959 9q34 deletion syndrome skos:exactMatch MONDO:0012455 Kleefstra syndrome semapv:ManualMappingCuration -NANDO:1200960 Cornelia de lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration -NANDO:1200961 Smith-lemli-opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration -NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration -NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0019813 congenital tricuspid stenosis semapv:ManualMappingCuration -NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration -NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0020398 congenital mitral stenosis semapv:ManualMappingCuration -NANDO:1200964 Congenital pulmonary vein stenosis skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration -NANDO:1200967 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration -NANDO:1200969 Carnitine cycle disorders skos:exactMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:ManualMappingCuration -NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration -NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration -NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration -NANDO:1200973 Systemic primary carnitine deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration -NANDO:1200974 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration -NANDO:1200978 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration -NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:exactMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:ManualMappingCuration -NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:ManualMappingCuration -NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0016603 citrullinemia type II semapv:ManualMappingCuration -NANDO:1200982 Sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:ManualMappingCuration -NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:exactMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:ManualMappingCuration -NANDO:1200984 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration -NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:exactMatch MONDO:0017353 neonatal glycine encephalopathy semapv:ManualMappingCuration -NANDO:1200986 Infantile nonketotic hyperglycinemia skos:exactMatch MONDO:0017354 infantile glycine encephalopathy semapv:ManualMappingCuration -NANDO:1200987 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration -NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration -NANDO:1200989 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration -NANDO:1200990 3-methylglutaconic aciduria type I skos:exactMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:ManualMappingCuration -NANDO:1200991 3-methylglutaconicaciduria type II skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration -NANDO:1200992 3-methylglutaconic aciduria type III skos:exactMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:ManualMappingCuration -NANDO:1200994 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:1200996 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration -NANDO:1200997 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration -NANDO:1200998 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration -NANDO:1201000 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 anterior segment dysgenesis semapv:ManualMappingCuration -NANDO:1201001 Aniridia skos:exactMatch MONDO:0019172 aniridia semapv:ManualMappingCuration -NANDO:1201003 Congenital tracheal stenosis skos:exactMatch MONDO:0011340 congenital tracheal stenosis semapv:ManualMappingCuration -NANDO:1201004 Congenital subglottic stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration -NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:exactMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:ManualMappingCuration -NANDO:1201007 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration -NANDO:1201009 Systemic granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:exactMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:ManualMappingCuration -NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:ManualMappingCuration -NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0019563 CREST syndrome semapv:ManualMappingCuration -NANDO:1201018 Hepatic glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration -NANDO:1201019 Hepatic glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration -NANDO:1201020 Hepatic glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration -NANDO:1201021 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration -NANDO:1201029 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:2100002 Leukemia skos:exactMatch MONDO:0004355 childhood leukemia semapv:ManualMappingCuration -NANDO:2100002 Leukemia skos:exactMatch MONDO:0005059 leukemia semapv:ManualMappingCuration -NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration -NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003659 pediatric lymphoma semapv:ManualMappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003660 adult lymphoma semapv:ManualMappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0005062 lymphoma semapv:ManualMappingCuration -NANDO:2100005 Histiocytosis skos:exactMatch MONDO:0002637 histiocytosis semapv:ManualMappingCuration -NANDO:2100007 Central nervous system tumors skos:exactMatch MONDO:0002714 central nervous system cancer semapv:ManualMappingCuration -NANDO:2100008 Chronic kidney disease skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration -NANDO:2100009 Nephrotic syndrome skos:exactMatch MONDO:0005377 nephrotic syndrome semapv:ManualMappingCuration -NANDO:2100012 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration -NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration -NANDO:2100015 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration -NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration -NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration -NANDO:2100019 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration -NANDO:2100020 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration -NANDO:2100021 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration -NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration -NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0024327 chronic renal failure syndrome semapv:ManualMappingCuration -NANDO:2100027 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration -NANDO:2100028 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration -NANDO:2100031 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration -NANDO:2100032 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration -NANDO:2100034 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration -NANDO:2100035 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration -NANDO:2100036 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration -NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration -NANDO:2100039 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration -NANDO:2100040 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration -NANDO:2100043 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration -NANDO:2100044 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration -NANDO:2100046 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration -NANDO:2100049 Ventricular tachycardia skos:exactMatch MONDO:0005477 ventricular tachycardia semapv:ManualMappingCuration -NANDO:2100050 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration -NANDO:2100051 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration -NANDO:2100052 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration -NANDO:2100053 Long QT syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration -NANDO:2100054 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration -NANDO:2100057 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration -NANDO:2100058 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:2100060 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration -NANDO:2100061 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration -NANDO:2100064 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration -NANDO:2100070 Ischemic heart disease skos:exactMatch MONDO:0024644 myocardial ischemia semapv:ManualMappingCuration -NANDO:2100071 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration -NANDO:2100073 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration -NANDO:2100075 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration -NANDO:2100076 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration -NANDO:2100077 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration -NANDO:2100079 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:2100080 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration -NANDO:2100082 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration -NANDO:2100083 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration -NANDO:2100084 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration -NANDO:2100085 Atrial septal defect skos:exactMatch MONDO:0006664 atrial septal defect semapv:ManualMappingCuration -NANDO:2100086 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration -NANDO:2100087 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration -NANDO:2100090 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration -NANDO:2100092 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration -NANDO:2100093 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration -NANDO:2100095 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration -NANDO:2100098 Aortic stenosis skos:exactMatch MONDO:0004978 obsolete aortic stenosis semapv:ManualMappingCuration -NANDO:2100101 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration -NANDO:2100103 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:2100105 Valvular heart disease skos:exactMatch MONDO:0002869 heart valve disorder semapv:ManualMappingCuration -NANDO:2100109 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration -NANDO:2100110 Hypopituitarism skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration -NANDO:2100111 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration -NANDO:2100112 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration -NANDO:2100114 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration -NANDO:2100115 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration -NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration -NANDO:2100117 Diabetes insipidus skos:exactMatch MONDO:0004782 diabetes insipidus semapv:ManualMappingCuration -NANDO:2100119 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration -NANDO:2100120 Hypothyroidism skos:exactMatch MONDO:0005420 hypothyroidism semapv:ManualMappingCuration -NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration -NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration -NANDO:2100123 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration -NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration -NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration -NANDO:2100125 Autoimmune polyendocrinopathy skos:exactMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:ManualMappingCuration -NANDO:2100126 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration -NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration -NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration -NANDO:2100131 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration -NANDO:2100132 Hypoaldosteronism skos:exactMatch MONDO:0015900 hypoaldosteronism disease semapv:ManualMappingCuration -NANDO:2100133 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration -NANDO:2100134 Congenital adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration -NANDO:2100135 Precocious puberty skos:exactMatch MONDO:0000088 precocious puberty semapv:ManualMappingCuration -NANDO:2100138 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration -NANDO:2100139 Hypergonadotropic hypogonadism skos:exactMatch MONDO:0005387 primary ovarian failure semapv:ManualMappingCuration -NANDO:2100140 Disorders of sex development skos:exactMatch MONDO:0002145 disorder of sexual differentiation semapv:ManualMappingCuration -NANDO:2100142 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration -NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration -NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration -NANDO:2100144 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration -NANDO:2100147 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration -NANDO:2100148 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 multiple endocrine neoplasia semapv:ManualMappingCuration -NANDO:2100149 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration -NANDO:2100151 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration -NANDO:2100152 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration -NANDO:2100154 Relapsing Polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration -NANDO:2100156 Autoinflammatory disease skos:exactMatch MONDO:0019751 autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2100157 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration -NANDO:2100158 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration -NANDO:2100159 Inborn errors of metabolism skos:exactMatch MONDO:0019052 inborn errors of metabolism semapv:ManualMappingCuration -NANDO:2100160 Disorder of amino acid metabolism skos:exactMatch MONDO:0037871 amino acid metabolism disease semapv:ManualMappingCuration -NANDO:2100161 Disorder of organic acid metabolism skos:exactMatch MONDO:0045022 disorder of organic acid metabolism semapv:ManualMappingCuration -NANDO:2100162 Disorder of fatty-acid metabolism skos:exactMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:ManualMappingCuration -NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration -NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration -NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:ManualMappingCuration -NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0037792 carbohydrate metabolism disease semapv:ManualMappingCuration -NANDO:2100165 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration -NANDO:2100166 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration -NANDO:2100172 Connective tissue disorder skos:exactMatch MONDO:0003900 connective tissue disorder semapv:ManualMappingCuration -NANDO:2100174 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration -NANDO:2100175 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration -NANDO:2100176 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration -NANDO:2100177 Pure red cell aplasia skos:exactMatch MONDO:0001705 pure red-cell aplasia semapv:ManualMappingCuration -NANDO:2100178 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration -NANDO:2100179 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration -NANDO:2100180 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration -NANDO:2100181 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration -NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration -NANDO:2100183 Hereditary hemolytic anemia skos:exactMatch MONDO:0003689 familial hemolytic anemia semapv:ManualMappingCuration -NANDO:2100186 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration -NANDO:2100187 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration -NANDO:2100188 Thrombocytopenic purpura skos:exactMatch MONDO:0043768 thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:2100189 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:2100192 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration -NANDO:2100193 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration -NANDO:2100194 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration -NANDO:2100197 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration -NANDO:2100198 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration -NANDO:2100200 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration -NANDO:2100201 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration -NANDO:2100202 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration -NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0015131 combined immunodeficiency semapv:ManualMappingCuration -NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:ManualMappingCuration -NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration -NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0021094 immunodeficiency disease semapv:ManualMappingCuration -NANDO:2100212 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualMappingCuration -NANDO:2100213 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration -NANDO:2100214 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration -NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration -NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration -NANDO:2100216 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration -NANDO:2100217 Brain malformation skos:exactMatch MONDO:0016054 cerebral malformation semapv:ManualMappingCuration -NANDO:2100218 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration -NANDO:2100219 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration -NANDO:2100220 Neurocutaneous syndrome skos:exactMatch MONDO:0042983 neurocutaneous syndrome semapv:ManualMappingCuration -NANDO:2100221 Progeroid syndromes skos:exactMatch MONDO:0015333 progeroid syndrome semapv:ManualMappingCuration -NANDO:2100223 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration -NANDO:2100224 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration -NANDO:2100226 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration -NANDO:2100227 Craniosynostosis skos:exactMatch MONDO:0015469 craniosynostosis semapv:ManualMappingCuration -NANDO:2100228 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration -NANDO:2100229 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration -NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration -NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0019079 proximal spinal muscular atrophy semapv:ManualMappingCuration -NANDO:2100233 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration -NANDO:2100234 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration -NANDO:2100235 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration -NANDO:2100237 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration -NANDO:2100238 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration -NANDO:2100239 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:2100240 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration -NANDO:2100241 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:ManualMappingCuration -NANDO:2100242 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration -NANDO:2100244 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration -NANDO:2100245 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:2100246 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration -NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration -NANDO:2100248 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration -NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration -NANDO:2100250 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration -NANDO:2100252 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration -NANDO:2100255 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration -NANDO:2100256 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration -NANDO:2100257 Polyposis skos:exactMatch MONDO:0000147 polyposis semapv:ManualMappingCuration -NANDO:2100258 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration -NANDO:2100259 Inflammatory bowel disease skos:exactMatch MONDO:0005265 inflammatory bowel disease semapv:ManualMappingCuration -NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration -NANDO:2100264 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration -NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration -NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration -NANDO:2100267 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration -NANDO:2100268 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration -NANDO:2100272 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration -NANDO:2100274 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration -NANDO:2100279 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration -NANDO:2100280 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration -NANDO:2100281 Skin disease skos:exactMatch MONDO:0005093 skin disorder semapv:ManualMappingCuration -NANDO:2100283 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration -NANDO:2100284 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2100285 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration -NANDO:2100286 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration -NANDO:2100287 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration -NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration -NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration -NANDO:2100290 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration -NANDO:2100291 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration -NANDO:2100293 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration -NANDO:2100294 Vascular disease skos:exactMatch MONDO:0005385 vascular disorder semapv:ManualMappingCuration -NANDO:2100295 Vascular malformation skos:exactMatch MONDO:0024291 vascular malformation semapv:ManualMappingCuration -NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration -NANDO:2100297 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration -NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration -NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:exactMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:ManualMappingCuration -NANDO:2200003 T-cell lymphoblastic leukemia skos:exactMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration -NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:exactMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:ManualMappingCuration -NANDO:2200005 Acute myeloid leukemia without maturation skos:exactMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:ManualMappingCuration -NANDO:2200006 Acute myeloid leukemia with maturation skos:exactMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:ManualMappingCuration -NANDO:2200007 Acute promyelocytic leukemia skos:exactMatch MONDO:0012883 acute promyelocytic leukemia semapv:ManualMappingCuration -NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration -NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration -NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration -NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration -NANDO:2200010 Acute erythremia skos:exactMatch MONDO:0017858 acute erythroid leukemia semapv:ManualMappingCuration -NANDO:2200011 Acute megakaryoblastic leukemia skos:exactMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:ManualMappingCuration -NANDO:2200012 NK cell leukemia skos:exactMatch MONDO:0019470 aggressive NK-cell leukemia semapv:ManualMappingCuration -NANDO:2200013 Chronic myeloid leukemia skos:exactMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualMappingCuration -NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration -NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:ManualMappingCuration -NANDO:2200015 Juvenile myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration -NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration -NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0020321 acute undifferentiated leukemia semapv:ManualMappingCuration -NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration -NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0020743 mixed phenotype acute leukemia semapv:ManualMappingCuration -NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration -NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration -NANDO:2200020 Mature B-cell lymphoma skos:exactMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:ManualMappingCuration -NANDO:2200021 Anaplastic large cell lymphoma skos:exactMatch MONDO:0020325 anaplastic large cell lymphoma semapv:ManualMappingCuration -NANDO:2200022 Precursor B lymphoblastic lymphoma skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration -NANDO:2200023 Precursor T lymphoblastic lymphoma skos:exactMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:ManualMappingCuration -NANDO:2200024 Hodgkin lymphoma skos:exactMatch MONDO:0004952 Hodgkins lymphoma semapv:ManualMappingCuration -NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:exactMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:ManualMappingCuration -NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:exactMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:ManualMappingCuration -NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:exactMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:ManualMappingCuration -NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:exactMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:ManualMappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:ManualMappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:ManualMappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0018310 Langerhans cell histiocytosis semapv:ManualMappingCuration -NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:exactMatch MONDO:0015540 hemophagocytic syndrome semapv:ManualMappingCuration -NANDO:2200034 Follicular dendritic cell sarcoma skos:exactMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:ManualMappingCuration -NANDO:2200035 Interdigitating dendritic cell sarcoma skos:exactMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:ManualMappingCuration -NANDO:2200036 Langerhans cell sarcoma skos:exactMatch MONDO:0019480 Langerhans cell sarcoma semapv:ManualMappingCuration -NANDO:2200037 Juvenile xanthogranuloma skos:exactMatch MONDO:0015534 juvenile xanthogranuloma semapv:ManualMappingCuration -NANDO:2200038 Erdheim-Chester disease skos:exactMatch MONDO:0018153 Erdheim-Chester disease semapv:ManualMappingCuration -NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:ManualMappingCuration -NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:ManualMappingCuration -NANDO:2200040 Neuroblastoma skos:exactMatch MONDO:0005072 neuroblastoma semapv:ManualMappingCuration -NANDO:2200041 Ganglioneuroblastoma skos:exactMatch MONDO:0005035 ganglioneuroblastoma semapv:ManualMappingCuration -NANDO:2200042 Retinoblastoma skos:exactMatch MONDO:0008380 retinoblastoma semapv:ManualMappingCuration -NANDO:2200043 Wilms tumour skos:exactMatch MONDO:0019004 kidney Wilms tumor semapv:ManualMappingCuration -NANDO:2200044 Clear cell sarcoma of the kidney skos:exactMatch MONDO:0005006 clear cell sarcoma of kidney semapv:ManualMappingCuration -NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005086 renal cell carcinoma semapv:ManualMappingCuration -NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005549 renal cell adenocarcinoma semapv:ManualMappingCuration -NANDO:2200046 Hepatoblastoma skos:exactMatch MONDO:0018666 hepatoblastoma semapv:ManualMappingCuration -NANDO:2200047 Hepatocellular carcinoma skos:exactMatch MONDO:0007256 hepatocellular carcinoma semapv:ManualMappingCuration -NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0002623 pediatric osteosarcoma semapv:ManualMappingCuration -NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0009807 osteosarcoma semapv:ManualMappingCuration -NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration -NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration -NANDO:2200050 Chondrosarcoma skos:exactMatch MONDO:0008977 chondrosarcoma semapv:ManualMappingCuration -NANDO:2200051 Chondroblastoma skos:exactMatch MONDO:0004997 chondroblastoma semapv:ManualMappingCuration -NANDO:2200052 Malignancy in giant cell tumour of bone skos:exactMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:ManualMappingCuration -NANDO:2200053 Ewing's sarcoma skos:exactMatch MONDO:0012817 Ewing sarcoma semapv:ManualMappingCuration -NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration -NANDO:2200056 Rhabdomyosarcoma skos:exactMatch MONDO:0005212 rhabdomyosarcoma semapv:ManualMappingCuration -NANDO:2200057 Malignant rhabdoid tumour skos:exactMatch MONDO:0002728 rhabdoid tumor semapv:ManualMappingCuration -NANDO:2200058 Undifferentiated sarcoma skos:exactMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:ManualMappingCuration -NANDO:2200059 Desmoplastic small round cell tumors skos:exactMatch MONDO:0019373 desmoplastic small round cell tumor semapv:ManualMappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002676 adult fibrosarcoma semapv:ManualMappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002678 pediatric fibrosarcoma semapv:ManualMappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0005164 fibrosarcoma semapv:ManualMappingCuration -NANDO:2200061 Synovial sarcoma skos:exactMatch MONDO:0010434 synovial sarcoma semapv:ManualMappingCuration -NANDO:2200062 Clear cell sarcoma skos:exactMatch MONDO:0002926 clear cell sarcoma semapv:ManualMappingCuration -NANDO:2200063 Alveolar soft part sarcoma skos:exactMatch MONDO:0011655 alveolar soft part sarcoma semapv:ManualMappingCuration -NANDO:2200064 Leiomyosarcoma skos:exactMatch MONDO:0005058 leiomyosarcoma semapv:ManualMappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003585 adult liposarcoma semapv:ManualMappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003587 pediatric liposarcoma semapv:ManualMappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0005060 liposarcoma semapv:ManualMappingCuration -NANDO:2200066 Dysgerminoma skos:exactMatch MONDO:0003002 dysgerminoma semapv:ManualMappingCuration -NANDO:2200067 Embryonal carcinoma skos:exactMatch MONDO:0005440 embryonal carcinoma semapv:ManualMappingCuration -NANDO:2200068 Polyembryoma skos:exactMatch MONDO:0015863 polyembryoma semapv:ManualMappingCuration -NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0005744 yolk sac tumor semapv:ManualMappingCuration -NANDO:2200070 Choriocarcinoma skos:exactMatch MONDO:0005207 choriocarcinoma semapv:ManualMappingCuration -NANDO:2200071 Mixed germ cell tumour skos:exactMatch MONDO:0015864 mixed germ cell tumor semapv:ManualMappingCuration -NANDO:2200072 Sex-cord stromal tumour skos:exactMatch MONDO:0006055 sex cord-stromal tumor semapv:ManualMappingCuration -NANDO:2200073 Adrenocortical carcinoma skos:exactMatch MONDO:0006639 adrenal cortex carcinoma semapv:ManualMappingCuration -NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0002108 thyroid cancer semapv:ManualMappingCuration -NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0015075 thyroid gland carcinoma semapv:ManualMappingCuration -NANDO:2200076 Salivary grand carcinoma skos:exactMatch MONDO:0000521 salivary gland carcinoma semapv:ManualMappingCuration -NANDO:2200077 Malignant melanoma skos:exactMatch MONDO:0005105 melanoma semapv:ManualMappingCuration -NANDO:2200078 Pheochromocytoma skos:exactMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:ManualMappingCuration -NANDO:2200079 Malignant thymoma skos:exactMatch MONDO:0006451 thymic carcinoma semapv:ManualMappingCuration -NANDO:2200080 Pleuropulmonaryblastoma skos:exactMatch MONDO:0011014 pleuropulmonary blastoma semapv:ManualMappingCuration -NANDO:2200081 Bronchial tumour skos:exactMatch MONDO:0002807 bronchial neoplasm semapv:ManualMappingCuration -NANDO:2200082 Pancreatoblastoma skos:exactMatch MONDO:0019035 pancreatoblastoma semapv:ManualMappingCuration -NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:ManualMappingCuration -NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0016691 pilocytic astrocytoma semapv:ManualMappingCuration -NANDO:2200085 Diffuse astrocytoma skos:exactMatch MONDO:0016686 diffuse astrocytoma semapv:ManualMappingCuration -NANDO:2200086 Anaplastic astrocytoma skos:exactMatch MONDO:0016684 anaplastic astrocytoma semapv:ManualMappingCuration -NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0018177 glioblastoma semapv:ManualMappingCuration -NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0020690 adult glioblastoma semapv:ManualMappingCuration -NANDO:2200088 Ependymoma skos:exactMatch MONDO:0016698 ependymoma semapv:ManualMappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002540 childhood oligodendroglioma semapv:ManualMappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002543 adult oligodendroglioma semapv:ManualMappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0016695 oligodendroglioma semapv:ManualMappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002794 adult medulloblastoma semapv:ManualMappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002797 childhood medulloblastoma semapv:ManualMappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0007959 medulloblastoma semapv:ManualMappingCuration -NANDO:2200091 Craniopharyngioma skos:exactMatch MONDO:0018907 craniopharyngioma semapv:ManualMappingCuration -NANDO:2200092 Pineocytoma skos:exactMatch MONDO:0016723 pineocytoma semapv:ManualMappingCuration -NANDO:2200093 Choroid plexus papilloma skos:exactMatch MONDO:0009837 choroid plexus papilloma semapv:ManualMappingCuration -NANDO:2200094 Meningioma skos:exactMatch MONDO:0003057 pediatric meningioma semapv:ManualMappingCuration -NANDO:2200094 Meningioma skos:exactMatch MONDO:0016642 meningioma semapv:ManualMappingCuration -NANDO:2200095 Pituitary adenoma skos:exactMatch MONDO:0006373 pituitary gland adenoma semapv:ManualMappingCuration -NANDO:2200096 Ganglioglioma skos:exactMatch MONDO:0016733 ganglioglioma semapv:ManualMappingCuration -NANDO:2200097 Gangliocytoma skos:exactMatch MONDO:0016730 gangliocytoma semapv:ManualMappingCuration -NANDO:2200098 Chordoma skos:exactMatch MONDO:0008978 chordoma semapv:ManualMappingCuration -NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration -NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration -NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:exactMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:ManualMappingCuration -NANDO:2200102 Malignant neurinoma skos:exactMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:ManualMappingCuration -NANDO:2200103 Neurinoma skos:exactMatch MONDO:0002546 schwannoma semapv:ManualMappingCuration -NANDO:2200104 Teratoma of the central nervous system skos:exactMatch MONDO:0002718 central nervous system teratoma semapv:ManualMappingCuration -NANDO:2200105 Mature teratoma skos:exactMatch MONDO:0003517 mature teratoma semapv:ManualMappingCuration -NANDO:2200106 Immature teratoma skos:exactMatch MONDO:0024746 immature teratoma semapv:ManualMappingCuration -NANDO:2200107 Teratoma with malignant transformation skos:exactMatch MONDO:0006444 teratoma with malignant transformation semapv:ManualMappingCuration -NANDO:2200108 Intracranial germ cell tumour skos:exactMatch MONDO:0004218 childhood germ cell brain tumor semapv:ManualMappingCuration -NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:exactMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:ManualMappingCuration -NANDO:2200112 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration -NANDO:2200113 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration -NANDO:2200114 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration -NANDO:2200116 Denys-Drash syndrome skos:exactMatch MONDO:0008682 Denys-Drash syndrome semapv:ManualMappingCuration -NANDO:2200117 Pierson syndrome skos:exactMatch MONDO:0012184 Pierson syndrome semapv:ManualMappingCuration -NANDO:2200118 Central nervous system malformation syndrome skos:exactMatch MONDO:0020022 central nervous system malformation semapv:ManualMappingCuration -NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration -NANDO:2200120 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration -NANDO:2200121 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration -NANDO:2200122 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:2200125 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration -NANDO:2200126 Alport syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration -NANDO:2200127 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration -NANDO:2200128 Lupus nephritis skos:exactMatch MONDO:0005556 lupus nephritis semapv:ManualMappingCuration -NANDO:2200131 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration -NANDO:2200132 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration -NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:exactMatch MONDO:0007671 fibronectin glomerulopathy semapv:ManualMappingCuration -NANDO:2200134 Lipoprotein glomerulopathy skos:exactMatch MONDO:0012725 lipoprotein glomerulopathy semapv:ManualMappingCuration -NANDO:2200136 Tubulointerstitial nephritis skos:exactMatch MONDO:0001085 interstitial nephritis semapv:ManualMappingCuration -NANDO:2200137 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration -NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0019065 amyloidosis semapv:ManualMappingCuration -NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration -NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration -NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration -NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration -NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration -NANDO:2200144 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration -NANDO:2200145 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration -NANDO:2200146 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration -NANDO:2200152 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration -NANDO:2200153 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration -NANDO:2200154 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration -NANDO:2200155 Hypoplastic kidney skos:exactMatch MONDO:0019637 renal hypoplasia semapv:ManualMappingCuration -NANDO:2200156 Renal aplasia skos:exactMatch MONDO:0018470 renal agenesis semapv:ManualMappingCuration -NANDO:2200157 Potter syndrome skos:exactMatch MONDO:0001558 Potter sequence semapv:ManualMappingCuration -NANDO:2200158 Multicystic dysplastic kidney skos:exactMatch MONDO:0015988 multicystic dysplastic kidney semapv:ManualMappingCuration -NANDO:2200159 Oligomeganephronia skos:exactMatch MONDO:0016407 oligomeganephronia semapv:ManualMappingCuration -NANDO:2200161 Renal dysplasia skos:exactMatch MONDO:0019638 renal dysplasia semapv:ManualMappingCuration -NANDO:2200170 Medullary cystic kidney skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration -NANDO:2200171 Multilocular cysts of the kidney skos:exactMatch MONDO:0019983 multiloculated renal cyst semapv:ManualMappingCuration -NANDO:2200172 Simple renal cyst skos:exactMatch MONDO:0002473 cystic kidney disease semapv:ManualMappingCuration -NANDO:2200173 Medullary sponge kidney skos:exactMatch MONDO:0015268 medullary sponge kidney semapv:ManualMappingCuration -NANDO:2200176 Ureteropelvic junction obstruction skos:exactMatch MONDO:0007741 congenital hydronephrosis semapv:ManualMappingCuration -NANDO:2200177 Megacalycosis skos:exactMatch MONDO:0019639 congenital megacalycosis semapv:ManualMappingCuration -NANDO:2200178 Obstructive uropathy skos:exactMatch MONDO:0003330 urinary tract obstruction semapv:ManualMappingCuration -NANDO:2200179 Vesicoureteral reflux skos:exactMatch MONDO:0006007 vesicoureteral reflux semapv:ManualMappingCuration -NANDO:2200183 Ureteroceles skos:exactMatch MONDO:0008628 ureterocele semapv:ManualMappingCuration -NANDO:2200184 Megaureter skos:exactMatch MONDO:0018960 congenital primary megaureter semapv:ManualMappingCuration -NANDO:2200185 Prune belly syndrome skos:exactMatch MONDO:0007032 prune belly syndrome semapv:ManualMappingCuration -NANDO:2200187 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration -NANDO:2200188 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration -NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration -NANDO:2200194 Tracheal stenosis skos:exactMatch MONDO:0002568 tracheal stenosis semapv:ManualMappingCuration -NANDO:2200195 Tracheomalacia skos:exactMatch MONDO:0019804 tracheomalacia semapv:ManualMappingCuration -NANDO:2200198 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration -NANDO:2200199 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration -NANDO:2200200 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:2200202 Pulmonary alveolar microlithiasis skos:exactMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:ManualMappingCuration -NANDO:2200203 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration -NANDO:2200204 Kartagener syndrome skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration -NANDO:2200205 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration -NANDO:2200206 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration -NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration -NANDO:2200209 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration -NANDO:2200210 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration -NANDO:2200212 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration -NANDO:2200213 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration -NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0000468 third-degree atrioventricular block semapv:ManualMappingCuration -NANDO:2200215 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration -NANDO:2200216 Polymorphic ventricular premature beat skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration -NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:exactMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:ManualMappingCuration -NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005479 atrial tachycardia semapv:ManualMappingCuration -NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration -NANDO:2200225 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration -NANDO:2200226 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration -NANDO:2200227 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration -NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration -NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0019171 familial long QT syndrome semapv:ManualMappingCuration -NANDO:2200229 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration -NANDO:2200231 Non-compaction of the ventricle skos:exactMatch MONDO:0018901 left ventricular noncompaction semapv:ManualMappingCuration -NANDO:2200232 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration -NANDO:2200233 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0006779 heart aneurysm semapv:ManualMappingCuration -NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0015677 cardiac diverticulum semapv:ManualMappingCuration -NANDO:2200235 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration -NANDO:2200236 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration -NANDO:2200239 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration -NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:exactMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:ManualMappingCuration -NANDO:2200246 Stenosis or atresia of coronary artery skos:exactMatch MONDO:0006715 coronary stenosis semapv:ManualMappingCuration -NANDO:2200248 Myocardial infarction skos:exactMatch MONDO:0005068 myocardial infarction semapv:ManualMappingCuration -NANDO:2200249 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration -NANDO:2200250 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration -NANDO:2200251 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration -NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration -NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration -NANDO:2200254 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration -NANDO:2200256 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration -NANDO:2200257 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration -NANDO:2200258 Complete transposition of the great arteries skos:exactMatch MONDO:0000153 transposition of the great arteries semapv:ManualMappingCuration -NANDO:2200259 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:2200260 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration -NANDO:2200262 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration -NANDO:2200263 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration -NANDO:2200264 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration -NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:ManualMappingCuration -NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020439 patent foramen ovale semapv:ManualMappingCuration -NANDO:2200267 Atrial septal defect, sinus venosus type skos:exactMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:ManualMappingCuration -NANDO:2200268 Incomplete atrioventricular septal defect skos:exactMatch MONDO:0015275 partial atrioventricular canal semapv:ManualMappingCuration -NANDO:2200269 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration -NANDO:2200270 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration -NANDO:2200271 Total anomalous pulmonary venous connection skos:exactMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:ManualMappingCuration -NANDO:2200272 Partial anomalous pulmonary venous connection skos:exactMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:ManualMappingCuration -NANDO:2200273 Pulmonary venous obstruction skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration -NANDO:2200274 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration -NANDO:2200275 Double-chambered right ventricle skos:exactMatch MONDO:0016581 conotruncal heart malformations semapv:ManualMappingCuration -NANDO:2200276 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration -NANDO:2200277 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration -NANDO:2200278 Supravalvular pulmonary stenosis skos:exactMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:ManualMappingCuration -NANDO:2200280 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration -NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:exactMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:ManualMappingCuration -NANDO:2200282 Unilateral absence of a pulmonary artery skos:exactMatch MONDO:0020007 absence of the pulmonary artery semapv:ManualMappingCuration -NANDO:2200283 Coarctation of the aorta skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration -NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration -NANDO:2200285 Supravalvular aortic stenosis skos:exactMatch MONDO:0008504 supravalvular aortic stenosis semapv:ManualMappingCuration -NANDO:2200286 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration -NANDO:2200288 Interruption of aortic arch complex skos:exactMatch MONDO:0009010 aortic arch interruption semapv:ManualMappingCuration -NANDO:2200290 Double aortic arch disease skos:exactMatch MONDO:0020413 encircling double aortic arch semapv:ManualMappingCuration -NANDO:2200293 Aneurysm of sinus valsalva skos:exactMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:ManualMappingCuration -NANDO:2200294 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration -NANDO:2200295 Pulmonary arteriovenous fistulae skos:exactMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:ManualMappingCuration -NANDO:2200296 Coronary artery fistula skos:exactMatch MONDO:0016081 coronary arterial fistulas semapv:ManualMappingCuration -NANDO:2200298 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:2200299 Chronic cor pulmonale skos:exactMatch MONDO:0001493 chronic pulmonary heart disease semapv:ManualMappingCuration -NANDO:2200300 Tricuspid valve stenosis skos:exactMatch MONDO:0005997 tricuspid valve stenosis semapv:ManualMappingCuration -NANDO:2200301 Tricuspid valve regurgitation skos:exactMatch MONDO:0002870 tricuspid valve insufficiency semapv:ManualMappingCuration -NANDO:2200302 Mitral valve stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration -NANDO:2200303 Mitral regurgitation skos:exactMatch MONDO:0001298 congenital mitral valve insufficiency semapv:ManualMappingCuration -NANDO:2200304 Pulmonary valve stenosis skos:exactMatch MONDO:0006936 pulmonary valve stenosis semapv:ManualMappingCuration -NANDO:2200305 Pulmonary valve regurgitation skos:exactMatch MONDO:0001927 pulmonary valve insufficiency semapv:ManualMappingCuration -NANDO:2200306 Aortic valve stenosis skos:exactMatch MONDO:0042981 aortic valve stenosis semapv:ManualMappingCuration -NANDO:2200307 Aortic valve regurgitation skos:exactMatch MONDO:0005648 aortic valve insufficiency semapv:ManualMappingCuration -NANDO:2200308 Supramitral ring skos:exactMatch MONDO:0020400 congenital supravalvular mitral ring semapv:ManualMappingCuration -NANDO:2200312 Congenital hypopituitarism skos:exactMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:ManualMappingCuration -NANDO:2200313 Acquired hypopituitarism skos:exactMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:ManualMappingCuration -NANDO:2200314 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration -NANDO:2200315 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration -NANDO:2200317 Congenital growth hormone deficiency skos:exactMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:ManualMappingCuration -NANDO:2200320 IGF1 insensitivity skos:exactMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:ManualMappingCuration -NANDO:2200321 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration -NANDO:2200322 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration -NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration -NANDO:2200324 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration -NANDO:2200325 Adipsic hypernatremia skos:exactMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:ManualMappingCuration -NANDO:2200326 Nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration -NANDO:2200328 Basedow disease skos:exactMatch MONDO:0005364 Graves disease semapv:ManualMappingCuration -NANDO:2200329 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration -NANDO:2200330 Ectoic thyroid skos:exactMatch MONDO:0019854 thyroid ectopia semapv:ManualMappingCuration -NANDO:2200331 Thyroid agenesis skos:exactMatch MONDO:0019855 athyreosis semapv:ManualMappingCuration -NANDO:2200332 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration -NANDO:2200333 Congenital hypothyroidism skos:exactMatch MONDO:0018612 congenital hypothyroidism semapv:ManualMappingCuration -NANDO:2200335 Hashimoto disease skos:exactMatch MONDO:0007699 Hashimoto thyroiditis semapv:ManualMappingCuration -NANDO:2200336 Atrophic thyroiditis skos:exactMatch MONDO:0005624 atrophic thyroiditis semapv:ManualMappingCuration -NANDO:2200340 Central hypothyroidism skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration -NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration -NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration -NANDO:2200343 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration -NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration -NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration -NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration -NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:exactMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:ManualMappingCuration -NANDO:2200348 Pseudopseudohypoparathyroidism skos:exactMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:ManualMappingCuration -NANDO:2200349 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration -NANDO:2200350 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration -NANDO:2200351 Ectopic ACTH syndrome skos:exactMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:ManualMappingCuration -NANDO:2200352 Adrenal adenoma skos:exactMatch MONDO:0003924 adrenal cortex adenoma semapv:ManualMappingCuration -NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration -NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:2200358 Glucocorticoid resistance skos:exactMatch MONDO:0014421 glucocorticoid resistance semapv:ManualMappingCuration -NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration -NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration -NANDO:2200360 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration -NANDO:2200360 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration -NANDO:2200361 Aldosteronism skos:exactMatch MONDO:0001422 primary aldosteronism semapv:ManualMappingCuration -NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration -NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration -NANDO:2200363 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration -NANDO:2200365 Aldosterone synthase deficiency skos:exactMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:ManualMappingCuration -NANDO:2200367 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration -NANDO:2200368 Pseudohypoaldosteronism type I skos:exactMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:ManualMappingCuration -NANDO:2200369 Pseudohypoaldosteronism type II skos:exactMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:ManualMappingCuration -NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration -NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200372 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:2200373 17 alpha-hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:2200375 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration -NANDO:2200377 Gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration -NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0015791 peripheral precocious puberty semapv:ManualMappingCuration -NANDO:2200379 Hyperestrogenism skos:exactMatch MONDO:0001946 obsolete hyperestrogenism semapv:ManualMappingCuration -NANDO:2200380 Hyperandrogenism skos:exactMatch MONDO:0001324 obsolete hyperandrogenism semapv:ManualMappingCuration -NANDO:2200381 Kallmann syndrome skos:exactMatch MONDO:0018800 Kallmann syndrome semapv:ManualMappingCuration -NANDO:2200382 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration -NANDO:2200383 Testicular dysgenesis skos:exactMatch MONDO:0005437 testicular dysgenesis syndrome semapv:ManualMappingCuration -NANDO:2200386 Klinefelter syndrome skos:exactMatch MONDO:0006823 Klinefelter syndrome semapv:ManualMappingCuration -NANDO:2200387 Ovotesticular dsd skos:exactMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:ManualMappingCuration -NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0001969 mixed gonadal dysgenesis semapv:ManualMappingCuration -NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:ManualMappingCuration -NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:ManualMappingCuration -NANDO:2200391 Androgen insensitivity syndrome skos:exactMatch MONDO:0019154 androgen insensitivity syndrome semapv:ManualMappingCuration -NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020040 46,XY disorder of sex development semapv:ManualMappingCuration -NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:ManualMappingCuration -NANDO:2200394 Vipoma skos:exactMatch MONDO:0019960 VIPoma semapv:ManualMappingCuration -NANDO:2200395 Gastrinoma skos:exactMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:ManualMappingCuration -NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0005369 carcinoid tumor semapv:ManualMappingCuration -NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0006689 obsolete carcinoid syndrome semapv:ManualMappingCuration -NANDO:2200397 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration -NANDO:2200398 Insulinoma skos:exactMatch MONDO:0024677 pancreatic insulinoma semapv:ManualMappingCuration -NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration -NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration -NANDO:2200401 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration -NANDO:2200402 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:2200403 Primary hypophosphatemic rickets skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:2200404 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration -NANDO:2200405 Multiple endocrine neoplasia type 1 skos:exactMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:ManualMappingCuration -NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration -NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:ManualMappingCuration -NANDO:2200408 Von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration -NANDO:2200409 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration -NANDO:2200410 Turner syndrome skos:exactMatch MONDO:0019499 Turner syndrome semapv:ManualMappingCuration -NANDO:2200411 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration -NANDO:2200412 McCune-Albright syndrome skos:exactMatch MONDO:0018919 McCune-Albright syndrome semapv:ManualMappingCuration -NANDO:2200413 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration -NANDO:2200414 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 Bardet-Biedl syndrome semapv:ManualMappingCuration -NANDO:2200415 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2200416 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration -NANDO:2200418 Juvenile dermatomyositis skos:exactMatch MONDO:0008054 juvenile dermatomyositis semapv:ManualMappingCuration -NANDO:2200419 Juvenile polymyositis skos:exactMatch MONDO:0019734 juvenile polymyositis semapv:ManualMappingCuration -NANDO:2200420 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration -NANDO:2200421 Anti-phospholipid antibody syndrome skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration -NANDO:2200422 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration -NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualMappingCuration -NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration -NANDO:2200424 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:2200426 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration -NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:2200428 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration -NANDO:2200429 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration -NANDO:2200430 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration -NANDO:2200431 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration -NANDO:2200432 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration -NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration -NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration -NANDO:2200435 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration -NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0017708 mevalonate kinase deficiency semapv:ManualMappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0004471 bacterial arthritis semapv:ManualMappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0018824 pyoderma gangrenosum semapv:ManualMappingCuration -NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration -NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:exactMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:ManualMappingCuration -NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration -NANDO:2200443 CARD14 deficiency skos:exactMatch MONDO:0011269 psoriasis 2 semapv:ManualMappingCuration -NANDO:2200444 Cherubism skos:exactMatch MONDO:0007315 cherubism semapv:ManualMappingCuration -NANDO:2200446 IL10 deficiency skos:exactMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:ManualMappingCuration -NANDO:2200447 IL-10RA deficiency skos:exactMatch MONDO:0013153 inflammatory bowel disease 28 semapv:ManualMappingCuration -NANDO:2200448 IL-10RB deficiency skos:exactMatch MONDO:0012941 inflammatory bowel disease 25 semapv:ManualMappingCuration -NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration -NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2200451 PLCg2 deficiency skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration -NANDO:2200452 IL36RN deficiency skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration -NANDO:2200453 Majeed syndrome skos:exactMatch MONDO:0012316 Majeed syndrome semapv:ManualMappingCuration -NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration -NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:ManualMappingCuration -NANDO:2200456 RBCK1 deficiency skos:exactMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:ManualMappingCuration -NANDO:2200457 SLC29A3 deficiency skos:exactMatch MONDO:0011273 H syndrome semapv:ManualMappingCuration -NANDO:2200458 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration -NANDO:2200460 Diabetes mellitus type 1 skos:exactMatch MONDO:0005147 type 1 diabetes mellitus semapv:ManualMappingCuration -NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0005148 type 2 diabetes mellitus semapv:ManualMappingCuration -NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration -NANDO:2200462 Maturity-onset diabetes of the young skos:exactMatch MONDO:0018911 maturity-onset diabetes of the young semapv:ManualMappingCuration -NANDO:2200463 Neonatal diabetes mellitus skos:exactMatch MONDO:0016391 neonatal diabetes mellitus semapv:ManualMappingCuration -NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0005827 lipoatrophic diabetes semapv:ManualMappingCuration -NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration -NANDO:2200467 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration -NANDO:2200468 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration -NANDO:2200469 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration -NANDO:2200470 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration -NANDO:2200471 Hyperprolinemia skos:exactMatch MONDO:0023419 hyperprolinemia semapv:ManualMappingCuration -NANDO:2200472 Prolidase deficiency skos:exactMatch MONDO:0008221 prolidase deficiency semapv:ManualMappingCuration -NANDO:2200473 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration -NANDO:2200474 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration -NANDO:2200475 Hypermethioninemia skos:exactMatch MONDO:0000351 disorder of methionine catabolism semapv:ManualMappingCuration -NANDO:2200476 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration -NANDO:2200477 N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration -NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration -NANDO:2200479 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration -NANDO:2200480 Argininosuccinate synthetase deficiency skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration -NANDO:2200481 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration -NANDO:2200482 Hyperargininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration -NANDO:2200483 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration -NANDO:2200484 Hyperornithinemia skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration -NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch MONDO:0009393 ornithine translocase deficiency semapv:ManualMappingCuration -NANDO:2200486 Gyrate atrophy of choroid and retina skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration -NANDO:2200487 Hartnup disease skos:exactMatch MONDO:0009324 Hartnup disease semapv:ManualMappingCuration -NANDO:2200488 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration -NANDO:2200489 Cystinuria skos:exactMatch MONDO:0009067 cystinuria semapv:ManualMappingCuration -NANDO:2200491 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration -NANDO:2200492 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration -NANDO:2200493 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration -NANDO:2200494 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration -NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:ManualMappingCuration -NANDO:2200496 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration -NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration -NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:ManualMappingCuration -NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:ManualMappingCuration -NANDO:2200500 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration -NANDO:2200501 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200502 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200503 Primary hyperoxaluria skos:exactMatch MONDO:0002474 primary hyperoxaluria semapv:ManualMappingCuration -NANDO:2200504 Alkaptonuria skos:exactMatch MONDO:0008753 alkaptonuria semapv:ManualMappingCuration -NANDO:2200505 Glycerol kinase deficiency skos:exactMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:ManualMappingCuration -NANDO:2200506 Inborn errors of bile acid metabolism skos:exactMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:ManualMappingCuration -NANDO:2200508 Organic cation transporter 2 deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration -NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration -NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration -NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration -NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200515 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration -NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200519 Pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:ManualMappingCuration -NANDO:2200520 Fumarase deficiency skos:exactMatch MONDO:0011730 fumaric aciduria semapv:ManualMappingCuration -NANDO:2200522 Mitochondrial respiratory chain disorders skos:exactMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:ManualMappingCuration -NANDO:2200523 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration -NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:exactMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:ManualMappingCuration -NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration -NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration -NANDO:2200527 Leigh syndrome skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration -NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration -NANDO:2200529 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration -NANDO:2200531 Hereditary fructose intolerance skos:exactMatch MONDO:0009249 hereditary fructose intolerance semapv:ManualMappingCuration -NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration -NANDO:2200533 Galactokinase deficiency skos:exactMatch MONDO:0009255 galactokinase deficiency semapv:ManualMappingCuration -NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:exactMatch MONDO:0009257 galactose epimerase deficiency semapv:ManualMappingCuration -NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:exactMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:ManualMappingCuration -NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:ManualMappingCuration -NANDO:2200537 Glycogen synthase deficiency skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:2200538 Glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration -NANDO:2200539 Glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration -NANDO:2200540 Glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration -NANDO:2200541 Glycogen storage disease type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration -NANDO:2200542 Glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration -NANDO:2200543 Glycogen storage disease type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration -NANDO:2200544 Glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration -NANDO:2200545 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration -NANDO:2200547 Mucopolysaccharidosis type I skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration -NANDO:2200548 Mucopolysaccharidosis type II skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration -NANDO:2200549 Mucopolysaccharidosis type III skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration -NANDO:2200550 Mucopolysaccharidosis type IV skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration -NANDO:2200551 Mucopolysaccharidosis type VI skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration -NANDO:2200552 Mucopolysaccharidosis type VII skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration -NANDO:2200553 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration -NANDO:2200555 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration -NANDO:2200556 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration -NANDO:2200557 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration -NANDO:2200558 GM1 Gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration -NANDO:2200559 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration -NANDO:2200560 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration -NANDO:2200561 Niemann-Pick disease skos:exactMatch MONDO:0001982 Niemann-Pick disease semapv:ManualMappingCuration -NANDO:2200562 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration -NANDO:2200563 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration -NANDO:2200564 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration -NANDO:2200565 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration -NANDO:2200566 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration -NANDO:2200567 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration -NANDO:2200568 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration -NANDO:2200569 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration -NANDO:2200570 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration -NANDO:2200571 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration -NANDO:2200572 Free Sialic Acid Storage Disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration -NANDO:2200573 Neuronal ceroid lipofuscinoses skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2200575 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration -NANDO:2200576 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:2200577 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration -NANDO:2200579 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration -NANDO:2200580 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration -NANDO:2200581 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration -NANDO:2200582 Aceruloplasminemia skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration -NANDO:2200583 Sulfite oxidase deficiency skos:exactMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:ManualMappingCuration -NANDO:2200584 Acrodermatitis enteropathica skos:exactMatch MONDO:0008713 acrodermatitis enteropathica semapv:ManualMappingCuration -NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:ManualMappingCuration -NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:ManualMappingCuration -NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:exactMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:ManualMappingCuration -NANDO:2200588 Xanthinuria skos:exactMatch MONDO:0000721 xanthinuria semapv:ManualMappingCuration -NANDO:2200590 Orotic aciduria skos:exactMatch MONDO:0009797 orotic aciduria semapv:ManualMappingCuration -NANDO:2200592 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration -NANDO:2200594 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration -NANDO:2200595 Tyrosine hydroxylase deficiency skos:exactMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:ManualMappingCuration -NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration -NANDO:2200597 Dopamine beta hydroxylase deficiency skos:exactMatch MONDO:0009123 orthostatic hypotension 1 semapv:ManualMappingCuration -NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:exactMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:ManualMappingCuration -NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0005439 familial hypercholesterolemia semapv:ManualMappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:ManualMappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0016525 familial hyperaldosteronism semapv:ManualMappingCuration -NANDO:2200604 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration -NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0017773 hypoalphalipoproteinemia semapv:ManualMappingCuration -NANDO:2200607 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration -NANDO:2200608 Lipoid proteinosis skos:exactMatch MONDO:0009530 lipoid proteinosis semapv:ManualMappingCuration -NANDO:2200611 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration -NANDO:2200612 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration -NANDO:2200614 Congenital red cell aplasia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration -NANDO:2200615 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration -NANDO:2200616 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration -NANDO:2200617 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration -NANDO:2200618 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration -NANDO:2200619 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration -NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration -NANDO:2200622 Hereditary spherocytosis skos:exactMatch MONDO:0019350 hereditary spherocytosis semapv:ManualMappingCuration -NANDO:2200623 Hereditary stomatocytosis skos:exactMatch MONDO:0020102 hereditary stomatocytosis semapv:ManualMappingCuration -NANDO:2200624 Sickle cell disease skos:exactMatch MONDO:0011382 sickle cell anemia semapv:ManualMappingCuration -NANDO:2200625 Unstable hemoglobin disease skos:exactMatch MONDO:0020459 unstable hemoglobin disease semapv:ManualMappingCuration -NANDO:2200626 Thalassemia skos:exactMatch MONDO:0000984 thalassemia semapv:ManualMappingCuration -NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:exactMatch MONDO:0005775 G6PD deficiency semapv:ManualMappingCuration -NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:ManualMappingCuration -NANDO:2200630 Hereditary elliptocytosis skos:exactMatch MONDO:0017319 hereditary elliptocytosis semapv:ManualMappingCuration -NANDO:2200631 Hereditary pyropoikilocytosis skos:exactMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:ManualMappingCuration -NANDO:2200633 Stomatocytic xerocytosis skos:exactMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:ManualMappingCuration -NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:exactMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:ManualMappingCuration -NANDO:2200635 Hemoglobin C disease skos:exactMatch MONDO:0016242 hemoglobin C disease semapv:ManualMappingCuration -NANDO:2200636 Hemolytic anemia skos:exactMatch MONDO:0003664 hemolytic anemia semapv:ManualMappingCuration -NANDO:2200637 Hypersplenism skos:exactMatch MONDO:0006795 hypersplenism semapv:ManualMappingCuration -NANDO:2200639 Disseminated intravascular coagulation skos:exactMatch MONDO:0001243 disseminated intravascular coagulation semapv:ManualMappingCuration -NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:exactMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:ManualMappingCuration -NANDO:2200641 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration -NANDO:2200643 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration -NANDO:2200644 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration -NANDO:2200645 Immune thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:exactMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:ManualMappingCuration -NANDO:2200648 Heparin-induced thrombocytopenia skos:exactMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:ManualMappingCuration -NANDO:2200649 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:ManualMappingCuration -NANDO:2200652 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration -NANDO:2200653 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration -NANDO:2200654 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration -NANDO:2200655 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration -NANDO:2200656 Bernard-Soulier syndrome skos:exactMatch MONDO:0009276 Bernard-Soulier syndrome semapv:ManualMappingCuration -NANDO:2200657 Thrombasthenia skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration -NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:exactMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:ManualMappingCuration -NANDO:2200661 Thrombocytopenia with absent radii skos:exactMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:ManualMappingCuration -NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:exactMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:ManualMappingCuration -NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:exactMatch MONDO:0008555 thrombocytopenia 2 semapv:ManualMappingCuration -NANDO:2200664 ITGA2B/ITGB3 mutations skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration -NANDO:2200665 ACTN1 mutations skos:exactMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:ManualMappingCuration -NANDO:2200667 β-1 tubulin disorders skos:exactMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:ManualMappingCuration -NANDO:2200668 Platelet-type von Willebrand disease skos:exactMatch MONDO:0008332 platelet-type von Willebrand disease semapv:ManualMappingCuration -NANDO:2200669 ADP receptor deficiencies skos:exactMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:ManualMappingCuration -NANDO:2200670 Abnormalities in platelet collagen receptors skos:exactMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:ManualMappingCuration -NANDO:2200671 Scott syndrome skos:exactMatch MONDO:0009885 Scott syndrome semapv:ManualMappingCuration -NANDO:2200674 Factor V deficiency skos:exactMatch MONDO:0020586 factor V deficiency semapv:ManualMappingCuration -NANDO:2200675 Factor VII deficiency skos:exactMatch MONDO:0002244 factor VII deficiency semapv:ManualMappingCuration -NANDO:2200676 Hemophilia A skos:exactMatch MONDO:0010602 hemophilia A semapv:ManualMappingCuration -NANDO:2200677 Hemophilia B skos:exactMatch MONDO:0010604 hemophilia B semapv:ManualMappingCuration -NANDO:2200678 Factor X deficiency skos:exactMatch MONDO:0002247 factor X deficiency semapv:ManualMappingCuration -NANDO:2200679 Factor XI deficiency skos:exactMatch MONDO:0020587 factor XI deficiency semapv:ManualMappingCuration -NANDO:2200680 Factor XII deficiency skos:exactMatch MONDO:0009315 congenital factor XII deficiency semapv:ManualMappingCuration -NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0002241 factor XIII deficiency semapv:ManualMappingCuration -NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0018029 congenital factor XIII deficiency semapv:ManualMappingCuration -NANDO:2200682 Von Willebrand disease skos:exactMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:ManualMappingCuration -NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0012901 inherited prekallikrein deficiency semapv:ManualMappingCuration -NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0044744 prekallikrein deficiency semapv:ManualMappingCuration -NANDO:2200685 High molecular weight kininogen deficiency skos:exactMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:ManualMappingCuration -NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:exactMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:ManualMappingCuration -NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:exactMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:ManualMappingCuration -NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:exactMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:ManualMappingCuration -NANDO:2200689 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration -NANDO:2200690 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration -NANDO:2200692 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration -NANDO:2200693 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration -NANDO:2200694 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration -NANDO:2200695 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration -NANDO:2200696 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration -NANDO:2200697 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration -NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration -NANDO:2200699 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration -NANDO:2200701 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration -NANDO:2200702 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration -NANDO:2200704 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration -NANDO:2200705 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration -NANDO:2200706 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration -NANDO:2200707 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration -NANDO:2200708 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration -NANDO:2200710 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration -NANDO:2200711 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration -NANDO:2200713 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration -NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration -NANDO:2200715 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration -NANDO:2200716 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration -NANDO:2200717 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration -NANDO:2200718 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration -NANDO:2200719 Isolated IgG subclass deficiency skos:exactMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:ManualMappingCuration -NANDO:2200720 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration -NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration -NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration -NANDO:2200724 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration -NANDO:2200725 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration -NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration -NANDO:2200728 Perforin deficiency skos:exactMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:ManualMappingCuration -NANDO:2200729 UNC13D/Munc13-4 deficiency skos:exactMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:ManualMappingCuration -NANDO:2200730 Syntaxin 11 deficiency skos:exactMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:ManualMappingCuration -NANDO:2200731 STXBP2/Munc18-2 deficiency skos:exactMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:ManualMappingCuration -NANDO:2200732 Griscelli syndrome type 2 skos:exactMatch MONDO:0011872 Griscelli syndrome type 2 semapv:ManualMappingCuration -NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:exactMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:ManualMappingCuration -NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:exactMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:ManualMappingCuration -NANDO:2200735 CD27 deficiency skos:exactMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:ManualMappingCuration -NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:ManualMappingCuration -NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration -NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:ManualMappingCuration -NANDO:2200740 Caspase-8 deficiency skos:exactMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:ManualMappingCuration -NANDO:2200741 Fas-associated death domain protein deficiency skos:exactMatch MONDO:0013408 FADD-related immunodeficiency semapv:ManualMappingCuration -NANDO:2200743 PKC-δ deficiency skos:exactMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:ManualMappingCuration -NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:exactMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:ManualMappingCuration -NANDO:2200745 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration -NANDO:2200746 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration -NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:exactMatch MONDO:0011405 poikiloderma with neutropenia semapv:ManualMappingCuration -NANDO:2200750 Cohen syndrome skos:exactMatch MONDO:0008999 Cohen syndrome semapv:ManualMappingCuration -NANDO:2200751 Barth syndrome skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration -NANDO:2200752 P14 deficiency skos:exactMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:ManualMappingCuration -NANDO:2200753 X linked severe congenital neutropenia skos:exactMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:ManualMappingCuration -NANDO:2200754 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration -NANDO:2200755 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration -NANDO:2200756 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration -NANDO:2200757 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration -NANDO:2200758 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration -NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration -NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration -NANDO:2200762 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration -NANDO:2200763 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration -NANDO:2200764 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration -NANDO:2200766 HOIL-1 deficiency skos:exactMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualMappingCuration -NANDO:2200767 WHIM syndrome skos:exactMatch MONDO:0008674 obsolete WHIM syndrome semapv:ManualMappingCuration -NANDO:2200768 Epidermodysplasia verruciformis skos:exactMatch MONDO:0009176 epidermodysplasia verruciformis semapv:ManualMappingCuration -NANDO:2200770 STAT2 deficiency skos:exactMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:ManualMappingCuration -NANDO:2200771 MCM4 mutation skos:exactMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:ManualMappingCuration -NANDO:2200772 Herpes simplex encephalitis skos:exactMatch MONDO:0012521 herpes simplex encephalitis semapv:ManualMappingCuration -NANDO:2200774 Trypanosomiasis skos:exactMatch MONDO:0000940 trypanosomiasis semapv:ManualMappingCuration -NANDO:2200775 Isolated congenital asplenia skos:exactMatch MONDO:0010066 familial isolated congenital asplenia semapv:ManualMappingCuration -NANDO:2200776 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration -NANDO:2200777 C1q deficiency skos:exactMatch MONDO:0013343 C1Q deficiency semapv:ManualMappingCuration -NANDO:2200779 C1s deficiency skos:exactMatch MONDO:0013419 complement component C1s deficiency semapv:ManualMappingCuration -NANDO:2200781 C2 deficiency skos:exactMatch MONDO:0009006 complement component 2 deficiency semapv:ManualMappingCuration -NANDO:2200782 C3 deficiency skos:exactMatch MONDO:0013417 complement component 3 deficiency semapv:ManualMappingCuration -NANDO:2200783 C5 deficiency skos:exactMatch MONDO:0012295 complement component 5 deficiency semapv:ManualMappingCuration -NANDO:2200784 C6 deficiency skos:exactMatch MONDO:0012908 complement component 6 deficiency semapv:ManualMappingCuration -NANDO:2200785 C7 deficiency skos:exactMatch MONDO:0012412 complement component 7 deficiency semapv:ManualMappingCuration -NANDO:2200787 C9 deficiency skos:exactMatch MONDO:0013445 complement component 9 deficiency semapv:ManualMappingCuration -NANDO:2200789 Properdin deficiency skos:exactMatch MONDO:0010713 properdin deficiency, X-linked semapv:ManualMappingCuration -NANDO:2200791 Factor H deficiency skos:exactMatch MONDO:0012350 complement factor H deficiency semapv:ManualMappingCuration -NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:exactMatch MONDO:0017398 3MC syndrome semapv:ManualMappingCuration -NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration -NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration -NANDO:2200797 Factor B deficiency skos:exactMatch MONDO:0014255 complement factor b deficiency semapv:ManualMappingCuration -NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:ManualMappingCuration -NANDO:2200803 CD46 deficiency skos:exactMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:ManualMappingCuration -NANDO:2200804 Primary CD59 deficiency skos:exactMatch MONDO:0012858 primary CD59 deficiency semapv:ManualMappingCuration -NANDO:2200805 Hyper eosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration -NANDO:2200806 Hypereosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration -NANDO:2200807 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration -NANDO:2200808 Chronic active EB virus infection skos:exactMatch MONDO:0009194 immunodeficiency 32B semapv:ManualMappingCuration -NANDO:2200809 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualMappingCuration -NANDO:2200810 HIV infection skos:exactMatch MONDO:0005109 HIV infectious disease semapv:ManualMappingCuration -NANDO:2200812 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration -NANDO:2200813 Meningoencephalocele skos:exactMatch MONDO:0017079 meningoencephalocele semapv:ManualMappingCuration -NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration -NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration -NANDO:2200815 Spinal lipoma skos:exactMatch MONDO:0001790 spinal cord lipoma semapv:ManualMappingCuration -NANDO:2200816 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration -NANDO:2200817 Lissencephaly skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration -NANDO:2200818 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration -NANDO:2200819 Holoprosencephaly skos:exactMatch MONDO:0016296 holoprosencephaly semapv:ManualMappingCuration -NANDO:2200820 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration -NANDO:2200821 Dandy-Walker syndrome skos:exactMatch MONDO:0009072 Dandy-Walker syndrome semapv:ManualMappingCuration -NANDO:2200822 Congenital hydrocephalus skos:exactMatch MONDO:0016349 congenital hydrocephalus semapv:ManualMappingCuration -NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:exactMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualMappingCuration -NANDO:2200824 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration -NANDO:2200825 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration -NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration -NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration -NANDO:2200827 Neurocutaneous melanosis skos:exactMatch MONDO:0009578 neurocutaneous melanocytosis semapv:ManualMappingCuration -NANDO:2200828 Gorlin syndrome skos:exactMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:ManualMappingCuration -NANDO:2200829 von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration -NANDO:2200830 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration -NANDO:2200831 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration -NANDO:2200832 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration -NANDO:2200833 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration -NANDO:2200834 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration -NANDO:2200835 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration -NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration -NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration -NANDO:2200838 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration -NANDO:2200839 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration -NANDO:2200840 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration -NANDO:2200842 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration -NANDO:2200843 Non-syndromic craniosynostosis skos:exactMatch MONDO:0015337 isolated craniosynostosis semapv:ManualMappingCuration -NANDO:2200844 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration -NANDO:2200845 Crouzon disease skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration -NANDO:2200847 Carpenter syndrome skos:exactMatch MONDO:0019012 Carpenter syndrome semapv:ManualMappingCuration -NANDO:2200848 Saethre-Chotzen syndrome skos:exactMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:ManualMappingCuration -NANDO:2200850 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration -NANDO:2200851 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration -NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:exactMatch MONDO:0002327 intracranial cavernous angioma semapv:ManualMappingCuration -NANDO:2200853 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration -NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration -NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:ManualMappingCuration -NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration -NANDO:2200856 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration -NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration -NANDO:2200858 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration -NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration -NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration -NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:exactMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:ManualMappingCuration -NANDO:2200862 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration -NANDO:2200864 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration -NANDO:2200865 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration -NANDO:2200866 LMNA-related congenital muscular dystrophy skos:exactMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:ManualMappingCuration -NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration -NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration -NANDO:2200868 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration -NANDO:2200869 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration -NANDO:2200870 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration -NANDO:2200871 Multicore disease skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration -NANDO:2200875 Reducing body myopathy skos:exactMatch MONDO:0019948 reducing body myopathy semapv:ManualMappingCuration -NANDO:2200876 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration -NANDO:2200877 Severe myoclonic epilepsy in infancy skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration -NANDO:2200878 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration -NANDO:2200879 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration -NANDO:2200880 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration -NANDO:2200881 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration -NANDO:2200882 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration -NANDO:2200883 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:2200884 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration -NANDO:2200885 Segawa syndrome skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration -NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:2200887 Infantile neuroaxonal dystrophy skos:exactMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:ManualMappingCuration -NANDO:2200888 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration -NANDO:2200889 Congenital herpes simplex virus infection skos:exactMatch MONDO:0017381 congenital herpes simplex virus infection semapv:ManualMappingCuration -NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0005713 obsolete MONDO:0005713 semapv:ManualMappingCuration -NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0017361 congenital rubella syndrome semapv:ManualMappingCuration -NANDO:2200891 Congenital cytomegalovirus infection skos:exactMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:ManualMappingCuration -NANDO:2200892 Congenital toxoplasmosis skos:exactMatch MONDO:0005715 congenital toxoplasmosis semapv:ManualMappingCuration -NANDO:2200893 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration -NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:exactMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:ManualMappingCuration -NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:exactMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:ManualMappingCuration -NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:exactMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:ManualMappingCuration -NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:exactMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:ManualMappingCuration -NANDO:2200899 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:2200900 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration -NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration -NANDO:2200902 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration -NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration -NANDO:2200904 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration -NANDO:2200906 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration -NANDO:2200907 Lactose intolerance skos:exactMatch MONDO:0009116 obsolete lactose intolerance semapv:ManualMappingCuration -NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:exactMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:ManualMappingCuration -NANDO:2200909 Glucose-galactose malabsorption skos:exactMatch MONDO:0011731 glucose-galactose malabsorption semapv:ManualMappingCuration -NANDO:2200910 Enterokinase deficiency skos:exactMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:ManualMappingCuration -NANDO:2200911 Amylase deficiency skos:exactMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:ManualMappingCuration -NANDO:2200912 Lipase deficiency skos:exactMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:ManualMappingCuration -NANDO:2200913 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration -NANDO:2200914 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration -NANDO:2200915 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 classic familial adenomatous polyposis semapv:ManualMappingCuration -NANDO:2200916 Juvenile polyposis skos:exactMatch MONDO:0017380 juvenile polyposis syndrome semapv:ManualMappingCuration -NANDO:2200917 Peutz-Jeghers syndrome skos:exactMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:ManualMappingCuration -NANDO:2200918 Cowden syndrome skos:exactMatch MONDO:0016063 Cowden disease semapv:ManualMappingCuration -NANDO:2200919 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration -NANDO:2200920 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration -NANDO:2200921 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration -NANDO:2200923 Autoimmune enteropathy skos:exactMatch MONDO:0019787 autoimmune enteropathy semapv:ManualMappingCuration -NANDO:2200924 IPEX syndrome skos:exactMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualMappingCuration -NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration -NANDO:2200930 biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration -NANDO:2200930 biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration -NANDO:2200931 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration -NANDO:2200933 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration -NANDO:2200934 Caroli disease skos:exactMatch MONDO:0010913 Caroli disease semapv:ManualMappingCuration -NANDO:2200934 Caroli disease skos:exactMatch MONDO:0018808 Caroli syndrome semapv:ManualMappingCuration -NANDO:2200936 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration -NANDO:2200937 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration -NANDO:2200941 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration -NANDO:2200942 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration -NANDO:2200943 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration -NANDO:2200944 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration -NANDO:2200945 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration -NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration -NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration -NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration -NANDO:2200950 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration -NANDO:2200951 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration -NANDO:2200952 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration -NANDO:2200953 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration -NANDO:2200954 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration -NANDO:2200955 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration -NANDO:2200956 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration -NANDO:2200957 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration -NANDO:2200958 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration -NANDO:2200959 Beckwith-Wiedemann syndrome skos:exactMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:ManualMappingCuration -NANDO:2200960 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration -NANDO:2200961 5p- syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration -NANDO:2200962 4p- Syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration -NANDO:2200963 Trisomy 18 skos:exactMatch MONDO:0018071 trisomy 18 semapv:ManualMappingCuration -NANDO:2200964 Trisomy 13 skos:exactMatch MONDO:0018068 trisomy 13 semapv:ManualMappingCuration -NANDO:2200965 Down syndrome skos:exactMatch MONDO:0008608 Down syndrome semapv:ManualMappingCuration -NANDO:2200967 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration -NANDO:2200968 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration -NANDO:2200969 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 Loeys-Dietz syndrome semapv:ManualMappingCuration -NANDO:2200970 Camurati-Engelmann disease skos:exactMatch MONDO:0007542 Camurati-Engelmann disease semapv:ManualMappingCuration -NANDO:2200971 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration -NANDO:2200972 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration -NANDO:2200973 Hallermann-Streiff syndrome skos:exactMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:ManualMappingCuration -NANDO:2200974 Incontinentia pigmenti skos:exactMatch MONDO:0010631 incontinentia pigmenti semapv:ManualMappingCuration -NANDO:2200975 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration -NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration -NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration -NANDO:2200977 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration -NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:exactMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:ManualMappingCuration -NANDO:2200979 Smith-Lemli-Opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration -NANDO:2200980 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration -NANDO:2200981 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration -NANDO:2200982 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration -NANDO:2200983 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration -NANDO:2200984 MECP2 duplication syndrome skos:exactMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:ManualMappingCuration -NANDO:2200985 Takenouchi-Kosaki syndrome skos:exactMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:ManualMappingCuration -NANDO:2200986 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration -NANDO:2200987 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration -NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:2200990 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:2200991 Autosomal recessive congenital ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration -NANDO:2200992 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration -NANDO:2200993 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration -NANDO:2200994 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration -NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration -NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration -NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration -NANDO:2200998 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration -NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:exactMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:ManualMappingCuration -NANDO:2201000 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2201001 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration -NANDO:2201002 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration -NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration -NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration -NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration -NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration -NANDO:2201005 Anhidrotic ectodermal dysplasia skos:exactMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:ManualMappingCuration -NANDO:2201006 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration -NANDO:2201007 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration -NANDO:2201008 Thoracic insufficiency syndrome skos:exactMatch MONDO:0015929 thoracic malformation semapv:ManualMappingCuration -NANDO:2201009 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration -NANDO:2201010 Hypochondroplasia skos:exactMatch MONDO:0007793 hypochondroplasia semapv:ManualMappingCuration -NANDO:2201011 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration -NANDO:2201012 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration -NANDO:2201013 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration -NANDO:2201014 Multiple cartilaginous exostosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration -NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration -NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:ManualMappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0016068 fibrochondrogenesis semapv:ManualMappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0022800 type 2 collagenopathy semapv:ManualMappingCuration -NANDO:2201017 Chondrodysplasia punctata skos:exactMatch MONDO:0019701 chondrodysplasia punctata semapv:ManualMappingCuration -NANDO:2201018 Pseudoachondroplasia skos:exactMatch MONDO:0008322 pseudoachondroplasia semapv:ManualMappingCuration -NANDO:2201019 Larsen syndrome skos:exactMatch MONDO:0007875 Larsen syndrome semapv:ManualMappingCuration -NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration -NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration -NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:exactMatch MONDO:0018240 TRPV4-related bone disorder semapv:ManualMappingCuration -NANDO:2201022 Osteosclerotic diseases skos:exactMatch MONDO:0002933 osteosclerosis semapv:ManualMappingCuration -NANDO:2201023 Pycnodysostosis skos:exactMatch MONDO:0009940 pycnodysostosis semapv:ManualMappingCuration -NANDO:2201024 Osteopoikilosis skos:exactMatch MONDO:0001414 osteopoikilosis semapv:ManualMappingCuration -NANDO:2201026 Beals syndrome skos:exactMatch MONDO:0007363 congenital contractural arachnodactyly semapv:ManualMappingCuration -NANDO:2201027 Blue rubber bleb nevus syndrome skos:exactMatch MONDO:0007203 blue rubber bleb nevus semapv:ManualMappingCuration -NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration -NANDO:2201031 Primary lymphedema skos:exactMatch MONDO:0019175 primary lymphedema semapv:ManualMappingCuration -NANDO:2201032 Lymphangioma skos:exactMatch MONDO:0002013 lymphangioma semapv:ManualMappingCuration -NANDO:2201033 Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration -NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration -NANDO:2201035 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration -NANDO:2201038 Bilateral retinoblastoma skos:exactMatch MONDO:0003075 bilateral retinoblastoma semapv:ManualMappingCuration -NANDO:2201040 Bronchomalacia skos:exactMatch MONDO:0008888 Williams-Campbell syndrome semapv:ManualMappingCuration -NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:exactMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:2201047 Familial pulmonary arterial hypertension skos:exactMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:2201048 Secondary pulmonary arterial hypertension skos:exactMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:ManualMappingCuration -NANDO:2201050 Familial central diabetes insipidus skos:exactMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:ManualMappingCuration -NANDO:2201052 Multiple endocrine neoplasia type 2A skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration -NANDO:2201053 Multiple endocrine neoplasia type 2B skos:exactMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:ManualMappingCuration -NANDO:2201054 Medullary thyroid carcinoma skos:exactMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:ManualMappingCuration -NANDO:2201055 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:ManualMappingCuration -NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:exactMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:exactMatch MONDO:0011849 psoriatic arthritis semapv:ManualMappingCuration -NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:exactMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration -NANDO:2201067 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration -NANDO:2201068 familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration -NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:exactMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:ManualMappingCuration -NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:exactMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:ManualMappingCuration -NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:exactMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:ManualMappingCuration -NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:exactMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:ManualMappingCuration -NANDO:2201075 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration -NANDO:2201076 BH4 deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration -NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration -NANDO:2201078 Classic form maple syrup urine disease skos:exactMatch MONDO:0017051 classic maple syrup urine disease semapv:ManualMappingCuration -NANDO:2201079 Intermediate maple syrup urine disease skos:exactMatch MONDO:0017052 intermediate maple syrup urine disease semapv:ManualMappingCuration -NANDO:2201080 Intermittent maple syrup urine disease skos:exactMatch MONDO:0017053 intermittent maple syrup urine disease semapv:ManualMappingCuration -NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:exactMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:ManualMappingCuration -NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration -NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:ManualMappingCuration -NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016601 adult-onset citrullinemia type I semapv:ManualMappingCuration -NANDO:2201105 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration -NANDO:2201106 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration -NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration -NANDO:2201108 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration -NANDO:2201109 Methylcobalamin deficiency cblE type skos:exactMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:ManualMappingCuration -NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:exactMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:ManualMappingCuration -NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:ManualMappingCuration -NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0021915 arakawa syndrome 2 semapv:ManualMappingCuration -NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration -NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:ManualMappingCuration -NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration -NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration -NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration -NANDO:2201151 Glycogen storage disease type 0a skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:2201152 Glycogen storage disease type 0b skos:exactMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:2201153 Glycogen storage disease type 1a skos:exactMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:ManualMappingCuration -NANDO:2201154 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration -NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:exactMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:ManualMappingCuration -NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:exactMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:ManualMappingCuration -NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:exactMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:ManualMappingCuration -NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:exactMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:ManualMappingCuration -NANDO:2201163 Glycogen storage disease type IV, adult form skos:exactMatch MONDO:0009897 adult polyglucosan body disease semapv:ManualMappingCuration -NANDO:2201164 Glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration -NANDO:2201165 Glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration -NANDO:2201166 Glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration -NANDO:2201167 Glycogen storage disease type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration -NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration -NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration -NANDO:2201169 Scheie disease skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration -NANDO:2201170 Hurler-Scheie disease skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration -NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration -NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration -NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration -NANDO:2201174 Mucopolysaccharidosis type III A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration -NANDO:2201175 Mucopolysaccharidosis type III B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration -NANDO:2201176 Mucopolysaccharidosis type III C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration -NANDO:2201177 Mucopolysaccharidosis type III D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration -NANDO:2201178 Mucopolysaccharidosis type IV A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration -NANDO:2201179 Mucopolysaccharidosis type IV B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration -NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration -NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration -NANDO:2201189 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration -NANDO:2201190 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration -NANDO:2201191 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration -NANDO:2201192 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration -NANDO:2201193 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration -NANDO:2201196 GM1 gangliosidosis, infantile form skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration -NANDO:2201197 GM1 gangliosidosis, juvenile form skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration -NANDO:2201198 GM1 gangliosidosis, adult form skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration -NANDO:2201199 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration -NANDO:2201200 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration -NANDO:2201201 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration -NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration -NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration -NANDO:2201204 Metachromatic leukodystrophy, adult form skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration -NANDO:2201205 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration -NANDO:2201206 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration -NANDO:2201207 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration -NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration -NANDO:2201210 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration -NANDO:2201211 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration -NANDO:2201212 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration -NANDO:2201216 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration -NANDO:2201219 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration -NANDO:2201229 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration -NANDO:2201232 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration -NANDO:2201233 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration -NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration -NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration -NANDO:2201235 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration -NANDO:2201236 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration -NANDO:2201237 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration -NANDO:2201238 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration -NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201248 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration -NANDO:2201255 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration -NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration -NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration -NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration -NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration -NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration -NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration -NANDO:2201263 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration -NANDO:2201264 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration -NANDO:2201265 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration -NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration -NANDO:2201267 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration -NANDO:2201269 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:2201270 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration -NANDO:2201273 α-thalassemia skos:exactMatch MONDO:0011399 alpha thalassemia semapv:ManualMappingCuration -NANDO:2201274 β-thalassemia skos:exactMatch MONDO:0019402 beta thalassemia semapv:ManualMappingCuration -NANDO:2201275 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration -NANDO:2201276 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration -NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:ManualMappingCuration -NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:ManualMappingCuration -NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:ManualMappingCuration -NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:ManualMappingCuration -NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:ManualMappingCuration -NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration -NANDO:2201288 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration -NANDO:2201289 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration -NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration -NANDO:2201291 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration -NANDO:2201292 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration -NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration -NANDO:2201294 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration -NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration -NANDO:2201296 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration -NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration -NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration -NANDO:2201299 AGAT deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration -NANDO:2201300 GAMT deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration -NANDO:2201301 SLC6A8 deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration -NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:exactMatch MONDO:0018112 isolated scaphocephaly semapv:ManualMappingCuration -NANDO:2201305 Non-syndromic metopic craniosynostosis skos:exactMatch MONDO:0018065 isolated trigonocephaly semapv:ManualMappingCuration -NANDO:2201317 Anti-NMDA receptor encephalitis skos:exactMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:ManualMappingCuration -NANDO:2201319 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration -NANDO:2201320 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration -NANDO:2201321 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration -NANDO:2201322 Neuromyelitis optica skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration -NANDO:2201341 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration -NANDO:2201342 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2201343 Dystrophic epidermolysis bullosa skos:exactMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008702 achondrogenesis type II semapv:ManualMappingCuration -NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration -NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration -NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0019669 hypochondrogenesis semapv:ManualMappingCuration -NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:exactMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:ManualMappingCuration -NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:ManualMappingCuration -NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualMappingCuration -NANDO:2201350 Kniest dysplasia skos:exactMatch MONDO:0007987 Kniest dysplasia semapv:ManualMappingCuration -NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:exactMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:ManualMappingCuration -NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:ManualMappingCuration -NANDO:2201354 Stickler syndrome type 1 skos:exactMatch MONDO:0007160 Stickler syndrome type 1 semapv:ManualMappingCuration -NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration -NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration -NANDO:2201358 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration -NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:ManualMappingCuration -NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration -NANDO:2201361 Greenberg dysplasia skos:exactMatch MONDO:0008974 Greenberg dysplasia semapv:ManualMappingCuration -NANDO:2201362 Astley-Kendall dysplasia skos:exactMatch MONDO:0019408 Astley-Kendall dysplasia semapv:ManualMappingCuration -NANDO:2201364 Melorheostosis skos:exactMatch MONDO:0007970 melorheostosis semapv:ManualMappingCuration -NANDO:2201365 Dysosteosclerosis skos:exactMatch MONDO:0009138 dysosteosclerosis semapv:ManualMappingCuration -NANDO:2201366 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 craniometaphyseal dysplasia semapv:ManualMappingCuration -NANDO:2201367 Metaphyseal dysplasias skos:exactMatch MONDO:0009943 Pyle disease semapv:ManualMappingCuration -NANDO:2201368 Craniodiaphyseal dysplasia skos:exactMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:ManualMappingCuration -NANDO:2201369 Sclerosteosis skos:exactMatch MONDO:0017838 sclerosteosis semapv:ManualMappingCuration -NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration -NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:ManualMappingCuration -NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration -NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration -NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:ManualMappingCuration -NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:ManualMappingCuration -NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0009326 congenital heart block semapv:ManualMappingCuration -NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualMappingCuration -NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:ManualMappingCuration -NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:ManualMappingCuration -NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:ManualMappingCuration -NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0019328 macrocystic lymphatic malformation semapv:ManualMappingCuration -NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0007099 familial visceral amyloidosis semapv:ManualMappingCuration -NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0007879 larynx atresia semapv:ManualMappingCuration -NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration -NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0015446 atypical coarctation of aorta semapv:ManualMappingCuration -NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:ManualMappingCuration -NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration -NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:1200174 Chronic progressive external ophthalmoplegia skos:exactMatch MONDO:0005181 progressive external ophthalmoplegia semapv:ManualMappingCuration -NANDO:1201032 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration -NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration -NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration -NANDO:1201035 Creatine transporter deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration -NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration -NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration -NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:exactMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:ManualMappingCuration -NANDO:1201038 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration -NANDO:1201039 Homocystinuria type 1 skos:exactMatch MONDO:0009352 classic homocystinuria semapv:ManualMappingCuration -NANDO:1201040 Homocystinuria type 2 skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration -NANDO:1201041 Homocystinuria type 3 skos:exactMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:ManualMappingCuration -NANDO:1201042 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration -NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:ManualMappingCuration -NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:ManualMappingCuration -NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:ManualMappingCuration -NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:ManualMappingCuration -NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:ManualMappingCuration -NANDO:1201048 Acquired factor X inhibitor skos:exactMatch MONDO:0021134 acquired factor X deficiency semapv:ManualMappingCuration -NANDO:1201049 Senior-Loken syndrome skos:exactMatch MONDO:0017842 Senior-Loken syndrome semapv:ManualMappingCuration -NANDO:1201050 COACH syndrome skos:exactMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:ManualMappingCuration -NANDO:1201051 Oral-facial-digital syndrome skos:exactMatch MONDO:0015375 orofaciodigital syndrome semapv:ManualMappingCuration -NANDO:1201056 End-plate acetylcholine esterase deficiency skos:exactMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:ManualMappingCuration -NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:exactMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:ManualMappingCuration -NANDO:1201058 RAPADILINO syndrome skos:exactMatch MONDO:0009955 rapadilino syndrome semapv:ManualMappingCuration -NANDO:1201059 Baller-Gerold syndrome skos:exactMatch MONDO:0009039 Baller-Gerold syndrome semapv:ManualMappingCuration -NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration -NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:exactMatch MONDO:0019731 AApoAI amyloidosis semapv:ManualMappingCuration -NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:exactMatch MONDO:0007097 Finnish type amyloidosis semapv:ManualMappingCuration -NANDO:1201064 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration -NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration -NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration -NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:exactMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:ManualMappingCuration -NANDO:1201068 Agyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration -NANDO:1201068 Agyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration -NANDO:1201069 Pachygyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration -NANDO:1201069 Pachygyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration -NANDO:1201070 Subcortical band heterotopia skos:exactMatch MONDO:0020491 subcortical band heterotopia semapv:ManualMappingCuration -NANDO:1201079 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 periventricular nodular heterotopia semapv:ManualMappingCuration -NANDO:1201071 Polymicrogyria skos:exactMatch MONDO:0000087 polymicrogyria semapv:ManualMappingCuration -NANDO:1201072 Cobblestone brain malformation skos:exactMatch MONDO:0018869 cobblestone lissencephaly semapv:ManualMappingCuration -NANDO:1201073 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration -NANDO:1201074 Porencephaly skos:exactMatch MONDO:0017410 porencephaly semapv:ManualMappingCuration -NANDO:1201080 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration -NANDO:1201081 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration -NANDO:1201083 Miller Dieker syndrome skos:exactMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:ManualMappingCuration -NANDO:1201075 Pseudohypoparathyroidism type 1A skos:exactMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:ManualMappingCuration -NANDO:1201076 Pseudohypoparathyroidism type 1B skos:exactMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:ManualMappingCuration -NANDO:1201077 Pseudohypoparathyroidism type 1C skos:exactMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:ManualMappingCuration -NANDO:1201078 Pseudohypoparathyroidism type 2 skos:exactMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:ManualMappingCuration -NANDO:2201385 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration -NANDO:1200892 Hereditary sideroblastic anemia skos:exactMatch MONDO:0020099 inherited sideroblastic anemia semapv:ManualMappingCuration -NANDO:1200079 Late infantile metachromatic leukodystrophy skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration -NANDO:1200081 Adult metachromatic leukodystrophy skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration -NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration -NANDO:1200428 Pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration -NANDO:1200480 Minicore myopathy skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration -NANDO:1200568 Focal cortical dysplasia type 2a skos:exactMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:ManualMappingCuration -NANDO:1200569 Focal cortical dysplasia type 2b skos:exactMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:ManualMappingCuration -NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration -NANDO:1200693 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration -NANDO:1200751 Alveolar hypoventilation syndrome skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration -NANDO:1200817 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration -NANDO:1200831 Phosphoglycerate kinase deficiency skos:exactMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:ManualMappingCuration -NANDO:1200889 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration -NANDO:1200995 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration -NANDO:2200054 Primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration -NANDO:2200111 Diffuse mesangial sclerosis skos:exactMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:ManualMappingCuration -NANDO:2200197 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration -NANDO:2200261 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration -NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:exactMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:ManualMappingCuration -NANDO:2200374 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:2200384 Ovarian dysgenesis skos:exactMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:ManualMappingCuration -NANDO:2200389 5 alpha-reductase deficiency skos:exactMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:ManualMappingCuration -NANDO:2200425 Polyangiitis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration -NANDO:2200441 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration -NANDO:2200450 Deficiency of the enzyme ADA2 skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration -NANDO:2200459 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2200603 Familial combined hyperlipidemia skos:exactMatch MONDO:0001336 familial hyperlipidemia semapv:ManualMappingCuration -NANDO:2200610 Congenital porphyria skos:exactMatch MONDO:0019142 inherited porphyria semapv:ManualMappingCuration -NANDO:2200613 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration -NANDO:2200672 Afibrinogenemia skos:exactMatch MONDO:0008737 congenital afibrinogenemia semapv:ManualMappingCuration -NANDO:2200673 Hypoprothrombinemia skos:exactMatch MONDO:0013361 congenital prothrombin deficiency semapv:ManualMappingCuration -NANDO:2200700 ZAP-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration -NANDO:2200737 STAT5b deficiency skos:exactMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:ManualMappingCuration -NANDO:2200773 CARD9 deficiency skos:exactMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:ManualMappingCuration -NANDO:2200788 Factor D deficiency skos:exactMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:ManualMappingCuration -NANDO:2200790 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration -NANDO:2200793 MASP2 deficiency skos:exactMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:ManualMappingCuration -NANDO:2200794 Ficolin 3 Deficiency skos:exactMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:ManualMappingCuration -NANDO:2200798 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration -NANDO:2200872 Minicore myopathy skos:exactMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:ManualMappingCuration -NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201268 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration -NANDO:2201277 Secondary aplastic anemia skos:exactMatch MONDO:0015610 acquired aplastic anemia semapv:ManualMappingCuration -NANDO:2201351 Spondyloperipheral dysplasia skos:exactMatch MONDO:0010078 spondyloperipheral dysplasia semapv:ManualMappingCuration +MONDO:0019056 neuromuscular disease skos:exactMatch NANDO:1100001 Neuromuscular disease semapv:MappingInversion +MONDO:0004955 obsolete metabolic syndrome skos:exactMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0005066 metabolic disease skos:exactMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0005046 immune system disorder skos:exactMatch NANDO:1100004 Immune system disease semapv:MappingInversion +MONDO:0004995 cardiovascular disorder skos:exactMatch NANDO:1100005 Cardiovascular disease semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:exactMatch NANDO:1100006 Blood disease semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:exactMatch NANDO:1100009 Endocrine disease semapv:MappingInversion +MONDO:0005087 respiratory system disorder skos:exactMatch NANDO:1100010 Respiratory disease semapv:MappingInversion +MONDO:0004335 digestive system disorder skos:exactMatch NANDO:1100013 Gastrointestinal disease semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:exactMatch NANDO:1100014 Chromosome abnormality semapv:MappingInversion +MONDO:0024623 otorhinolaryngologic disease skos:exactMatch NANDO:1100015 Otorhinolaryngological disease semapv:MappingInversion +MONDO:0010735 Kennedy disease skos:exactMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch NANDO:1200002 Amyotrophic lateral sclerosis semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:exactMatch NANDO:1200003 Spinal muscular atrophy semapv:MappingInversion +MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch NANDO:1200004 Spinal muscular atrophy type I semapv:MappingInversion +MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch NANDO:1200005 Spinal muscular atrophy type II semapv:MappingInversion +MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch NANDO:1200006 Spinal muscular atrophy type III semapv:MappingInversion +MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch NANDO:1200007 Spinal muscular atrophy type IV semapv:MappingInversion +MONDO:0018155 lateral sclerosis skos:exactMatch NANDO:1200008 Primary lateral sclerosis semapv:MappingInversion +MONDO:0019037 progressive supranuclear palsy skos:exactMatch NANDO:1200009 Progressive supranuclear palsy semapv:MappingInversion +MONDO:0005180 Parkinson disease skos:exactMatch NANDO:1200010 Parkinson's disease semapv:MappingInversion +MONDO:0022308 corticobasal degeneration disorder skos:exactMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0022880 obsolete corticobasal degeneration skos:exactMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0007739 Huntington disease skos:exactMatch NANDO:1200012 Huntington's disease semapv:MappingInversion +MONDO:0016987 neuroacanthocytosis skos:exactMatch NANDO:1200013 Neuroacanthocytosis semapv:MappingInversion +MONDO:0008695 chorea-acanthocytosis skos:exactMatch NANDO:1200014 Chorea-acanthocytosis semapv:MappingInversion +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch NANDO:1200015 McLeod syndrome semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch NANDO:1200016 Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch NANDO:1200017 Charcot-Marie-Tooth disease type 1 semapv:MappingInversion +MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch NANDO:1200018 Charcot-Marie-Tooth disease type 2 semapv:MappingInversion +MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:exactMatch NANDO:1200019 Intermediate Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:exactMatch NANDO:1200020 Myasthenia gravis semapv:MappingInversion +MONDO:0018940 congenital myasthenic syndrome skos:exactMatch NANDO:1200021 Congenital myasthenic syndrome semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:exactMatch NANDO:1200023 Multiple sclerosis semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NANDO:1200024 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch NANDO:1200025 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch NANDO:1200026 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:exactMatch NANDO:1200027 Neuromyelitis optica spectrum disorders semapv:MappingInversion +MONDO:0016430 Balo concentric sclerosis skos:exactMatch NANDO:1200028 Baló concentric sclerosis semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0018979 multifocal motor neuropathy skos:exactMatch NANDO:1200031 Multifocal motor neuropathy semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:exactMatch NANDO:1200032 Sporadic inclusion body myositis semapv:MappingInversion +MONDO:0017364 POEMS syndrome skos:exactMatch NANDO:1200033 Crow-Fukase syndrome semapv:MappingInversion +MONDO:0007803 multiple system atrophy skos:exactMatch NANDO:1200034 Multiple system atrophy semapv:MappingInversion +MONDO:0016418 multiple system atrophy, cerebellar type skos:exactMatch NANDO:1200035 Multiple system atrophy, cerebellar type semapv:MappingInversion +MONDO:0020352 multiple system atrophy, parkinsonian type skos:exactMatch NANDO:1200036 Multiple system atrophy, Parkinsonian type semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:exactMatch NANDO:1200037 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0007182 Machado-Joseph disease skos:exactMatch NANDO:1200041 Spinocerebellar ataxia type 3 semapv:MappingInversion +MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch NANDO:1200042 Spinocerebellar ataxia type 6 semapv:MappingInversion +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch NANDO:1200043 Dentatorubropallidoluysian atrophy semapv:MappingInversion +MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NANDO:1200044 Spinocerebellar ataxia type 31 semapv:MappingInversion +MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch NANDO:1200045 Spinocerebellar ataxia type 1 semapv:MappingInversion +MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch NANDO:1200046 Spinocerebellar ataxia type 2 semapv:MappingInversion +MONDO:0008120 obsolete spinocerebellar ataxia type 7 skos:exactMatch NANDO:1200047 Spinocerebellar ataxia type 7 semapv:MappingInversion +MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch NANDO:1200048 Spinocerebellar ataxia type 36 semapv:MappingInversion +MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NANDO:1200050 Ataxia with isolated vitamin E deficiency semapv:MappingInversion +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch NANDO:1200051 Ataxia-oculomotor apraxia type 1 semapv:MappingInversion +MONDO:0019064 hereditary spastic paraplegia skos:exactMatch NANDO:1200052 Hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015149 pure hereditary spastic paraplegia skos:exactMatch NANDO:1200053 Pure hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015150 complex hereditary spastic paraplegia skos:exactMatch NANDO:1200054 Complex hereditary spastic paraplegia semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:exactMatch NANDO:1200055 Lysosomal storage disease semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:exactMatch NANDO:1200056 Gaucher disease semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:exactMatch NANDO:1200057 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:exactMatch NANDO:1200058 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:exactMatch NANDO:1200059 Gaucher disease type 3 semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:exactMatch NANDO:1200061 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:exactMatch NANDO:1200062 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0018982 Niemann-Pick disease type C skos:exactMatch NANDO:1200063 Niemann-Pick disease type C semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch NANDO:1200065 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:exactMatch NANDO:1200066 GM1 gangliosidosis semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch NANDO:1200067 Infantile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch NANDO:1200068 Juvenile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch NANDO:1200069 Adult GM1 gangliosidosis semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:exactMatch NANDO:1200070 GM2 gangliosidosis semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:exactMatch NANDO:1200071 Tay-Sachs disease semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:exactMatch NANDO:1200072 Sandhoff disease semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch NANDO:1200073 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:exactMatch NANDO:1200074 Krabbe disease semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:exactMatch NANDO:1200075 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:exactMatch NANDO:1200077 Adult Krabbe disease semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:exactMatch NANDO:1200078 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch NANDO:1200079 Late infantile metachromatic leukodystrophy semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch NANDO:1200080 Juvenile ｍetachromatic leukodystrophy semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch NANDO:1200081 Adult metachromatic leukodystrophy semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch NANDO:1200082 Saposin B deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:exactMatch NANDO:1200083 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:exactMatch NANDO:1200086 Farber disease semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:exactMatch NANDO:1200094 Hurler syndrome semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:exactMatch NANDO:1200095 Scheie syndrome semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch NANDO:1200096 Hurler-Scheie syndrome semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch NANDO:1200097 Hunter syndrome semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch NANDO:1200098 Hunter syndrome type A semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch NANDO:1200099 Hunter syndrome type B semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch NANDO:1200100 Sanfilippo disease semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch NANDO:1200101 Sanfilippo disease type A semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch NANDO:1200102 Sanfilippo disease type B semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch NANDO:1200103 Sanfilippo disease type C semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch NANDO:1200104 Sanfilippo disease type D semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch NANDO:1200105 Morquio syndrome semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch NANDO:1200106 Morquio syndrome type A semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch NANDO:1200107 Morquio syndrome type B semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:1200108 Maroteaux-Lamy syndrome semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch NANDO:1200111 Sly syndrome semapv:MappingInversion +MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch NANDO:1200115 Hyaluronidase deficiency semapv:MappingInversion +MONDO:0017734 sialidosis skos:exactMatch NANDO:1200116 Sialidosis semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:exactMatch NANDO:1200117 Sialidosis type 1 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:1200118 Sialidosis type 2 semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:exactMatch NANDO:1200119 Galactosialidosis semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:1200120 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:exactMatch NANDO:1200124 Mucolipidosis II semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch NANDO:1200125 Mucolipidosis III semapv:MappingInversion +MONDO:0009561 alpha-mannosidosis skos:exactMatch NANDO:1200126 Alpha-mannosidosis semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch NANDO:1200128 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:exactMatch NANDO:1200129 Beta-mannosidosis semapv:MappingInversion +MONDO:0009254 fucosidosis skos:exactMatch NANDO:1200130 Fucosidosis semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:exactMatch NANDO:1200133 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch NANDO:1200134 Schindler disease semapv:MappingInversion +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch NANDO:1200135 Schindler disease type I semapv:MappingInversion +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch NANDO:1200136 Schindler disease type 2 semapv:MappingInversion +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch NANDO:1200137 Schindler disease type 3 semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:exactMatch NANDO:1200138 Pompe disease semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch NANDO:1200139 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:exactMatch NANDO:1200142 Acid lipase deficiency semapv:MappingInversion +MONDO:0019148 Wolman disease skos:exactMatch NANDO:1200143 Wolman disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:exactMatch NANDO:1200144 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0010281 Danon disease skos:exactMatch NANDO:1200145 Danon disease semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:exactMatch NANDO:1200146 Free sialic acid storage disease semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch NANDO:1200147 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:exactMatch NANDO:1200148 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0011449 Salla disease skos:exactMatch NANDO:1200149 Salla disease semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200150 Neuronal ceroid-lipofuscinosis semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200151 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200155 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0010526 Fabry disease skos:exactMatch NANDO:1200157 Fabry disease semapv:MappingInversion +MONDO:0016239 cystinosis skos:exactMatch NANDO:1200161 Cystinosis semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:exactMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch NANDO:1200163 Intermediate cystinosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:exactMatch NANDO:1200164 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:exactMatch NANDO:1200165 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch NANDO:1200166 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:exactMatch NANDO:1200168 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:exactMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch NANDO:1200174 Chronic progressive external ophthalmoplegia semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:exactMatch NANDO:1200175 Leigh's encephalomyelopathy semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:exactMatch NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:exactMatch NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch NANDO:1200178 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:exactMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion +MONDO:0009641 obsolete mitochondrial complex II deficiency skos:exactMatch NANDO:1200181 Mitochondrial complex II deficiency semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:exactMatch NANDO:1200183 Moyamoya disease semapv:MappingInversion +MONDO:0005429 prion disease skos:exactMatch NANDO:1200186 Prion disease semapv:MappingInversion +MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200187 Sporadic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0017234 inherited prion disease skos:exactMatch NANDO:1200188 Genetic prion diseases semapv:MappingInversion +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200189 Familial Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome semapv:MappingInversion +MONDO:0010808 fatal familial insomnia skos:exactMatch NANDO:1200191 Fatal familial insomnia semapv:MappingInversion +MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200194 Variant Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:1200195 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:1200196 Typical subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:1200198 Subacute progressive sclerosing panencephalitis semapv:MappingInversion +MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch NANDO:1200205 Progressive multifocal leukoencephalopathy semapv:MappingInversion +MONDO:0008039 tropical spastic paraparesis skos:exactMatch NANDO:1200206 HTLV-1-associated myelopathy semapv:MappingInversion +MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch NANDO:1200207 Idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:exactMatch NANDO:1200208 Familial idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0017816 primary systemic amyloidosis skos:exactMatch NANDO:1200209 Systemic amyloidosis semapv:MappingInversion +MONDO:0019438 AL amyloidosis skos:exactMatch NANDO:1200211 Amyloid light-chain amyloidosis semapv:MappingInversion +MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch NANDO:1200212 Transthyretin-related senile systemic amyloidosis semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:exactMatch NANDO:1200214 Familial amyloid polyneuropathy semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:exactMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0018949 distal myopathy skos:exactMatch NANDO:1200216 Distal myopathy semapv:MappingInversion +MONDO:0009685 Miyoshi myopathy skos:exactMatch NANDO:1200217 Miyoshi myopathy semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:exactMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0011603 GNE myopathy skos:exactMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:exactMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0008029 Bethlem myopathy skos:exactMatch NANDO:1200220 Bethlem Myopathy semapv:MappingInversion +MONDO:0010281 Danon disease skos:exactMatch NANDO:1200222 Danon disease semapv:MappingInversion +MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch NANDO:1200223 X-linked Myopathy with excessive autophagy semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NANDO:1200224 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0007039 neurofibromatosis type 2 skos:exactMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0006594 pemphigus skos:exactMatch NANDO:1200228 Pemphigus semapv:MappingInversion +MONDO:0008219 pemphigus vulgaris skos:exactMatch NANDO:1200229 Pemphigus vulgaris semapv:MappingInversion +MONDO:0019324 pemphigus foliaceus skos:exactMatch NANDO:1200230 Pemphigus foliaceus semapv:MappingInversion +MONDO:0018974 paraneoplastic pemphigus skos:exactMatch NANDO:1200231 Paraneoplastic pemphigus semapv:MappingInversion +MONDO:0019322 pemphigus vegetans skos:exactMatch NANDO:1200232 Pemphigus vegetans semapv:MappingInversion +MONDO:0019323 pemphigus erythematosus skos:exactMatch NANDO:1200233 Pemphigus erythematosus semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:exactMatch NANDO:1200234 Epidermolysis bullosa semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NANDO:1200235 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch NANDO:1200236 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch NANDO:1200238 Recessive dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0008260 Kindler syndrome skos:exactMatch NANDO:1200239 Kindler syndrome semapv:MappingInversion +MONDO:0016597 obsolete generalized pustular psoriasis skos:exactMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:exactMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0004591 impetigo herpetiformis skos:exactMatch NANDO:1200243 Impetigo herpetiformis semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:exactMatch NANDO:1200244 Acrodermatitis continua of Hallopeau semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NANDO:1200245 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:exactMatch NANDO:1200246 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0006656 aortitis skos:exactMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:exactMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:exactMatch NANDO:1200258 Giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:exactMatch NANDO:1200259 Cranial giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:exactMatch NANDO:1200260 Large-vessel giant cell arteritis semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:exactMatch NANDO:1200261 Polyarteritis nodosa semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:exactMatch NANDO:1200262 Microscopic polyangiitis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NANDO:1200263 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch NANDO:1200264 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0043267 rheumatoid vasculitis skos:exactMatch NANDO:1200265 Rheumatoid vasculitis semapv:MappingInversion +MONDO:0008889 thromboangiitis obliterans skos:exactMatch NANDO:1200266 Buerger's disease semapv:MappingInversion +MONDO:0005204 primary antiphospholipid syndrome skos:exactMatch NANDO:1200267 Primary antiphospholipid antibody syndrome semapv:MappingInversion +MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch NANDO:1200270 Catastrophic antiphospholipid syndrome semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:exactMatch NANDO:1200271 Antiphospholipid antibody-related disease semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:exactMatch NANDO:1200272 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0016367 dermatomyositis skos:exactMatch NANDO:1200274 Dermatomyositis semapv:MappingInversion +MONDO:0043317 amyopathic dermatomyositis skos:exactMatch NANDO:1200275 Amyopathic dermatomyositis semapv:MappingInversion +MONDO:0019127 polymyositis skos:exactMatch NANDO:1200276 Polymyositis semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:exactMatch NANDO:1200277 Systemic sclerosis semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:exactMatch NANDO:1200278 Mixed connective tissue disease semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:exactMatch NANDO:1200279 Sjogren's syndrome semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:exactMatch NANDO:1200280 Primary Sjogren's syndrome semapv:MappingInversion +MONDO:0019355 adult-onset Still disease skos:exactMatch NANDO:1200282 Adult Still's disease semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:exactMatch NANDO:1200283 Relapsing polychondritis semapv:MappingInversion +MONDO:0007191 Behcet disease skos:exactMatch NANDO:1200284 Behcet's disease semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:1200286 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:1200288 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:1200292 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:1200293 Idiopathic restrictive cardiomyopathy semapv:MappingInversion +MONDO:0016345 non-familial restrictive cardiomyopathy skos:exactMatch NANDO:1200294 Secondary restrictive cardiomyopathy semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:exactMatch NANDO:1200295 Aplastic anemia semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:exactMatch NANDO:1200296 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome semapv:MappingInversion +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:exactMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:exactMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:exactMatch NANDO:1200302 Congenital aplastic anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:exactMatch NANDO:1200303 Fanconi anemia semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:exactMatch NANDO:1200304 Dyskeratosis congenita semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch NANDO:1200305 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch NANDO:1200306 Warm antibody hemolytic anemia semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:exactMatch NANDO:1200307 Cold agglutinin disease semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch NANDO:1200308 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch NANDO:1200309 Mixed-type autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0016030 Evans syndrome skos:exactMatch NANDO:1200310 Evans syndrome semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:1200311 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch NANDO:1200315 Idiopathic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200316 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200317 Congenital thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200319 Secondary thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:exactMatch NANDO:1200320 Primary immunodeficiency syndrome semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch NANDO:1200321 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:exactMatch NANDO:1200322 Reticular dysgenesis semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch NANDO:1200323 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:exactMatch NANDO:1200324 Omenn syndrome semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NANDO:1200325 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch NANDO:1200326 CD8 deficiency semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch NANDO:1200327 Zap-70 deficiency semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:exactMatch NANDO:1200328 MHC class I deficiency semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:exactMatch NANDO:1200329 MHC class II deficiency semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch NANDO:1200330 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:exactMatch NANDO:1200331 Ataxia telangiectasia semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch NANDO:1200332 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:exactMatch NANDO:1200333 Bloom syndrome semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch NANDO:1200334 ICF syndrome semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:exactMatch NANDO:1200336 RIDDLE syndrome semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch NANDO:1200337 Schimke syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:exactMatch NANDO:1200338 Netherton syndrome semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:exactMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:exactMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:exactMatch NANDO:1200340 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:exactMatch NANDO:1200342 Dyskeratosis congenita semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch NANDO:1200343 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:exactMatch NANDO:1200344 Common variable immunodeficiency semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:exactMatch NANDO:1200345 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0045045 selective IgG immunodeficiency skos:exactMatch NANDO:1200346 IgG subclass deficiency semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:exactMatch NANDO:1200347 Selective IgA deficiency semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NANDO:1200350 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch NANDO:1200351 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch NANDO:1200352 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:exactMatch NANDO:1200353 Severe congenital neutropenia semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:exactMatch NANDO:1200354 Cyclic neutropenia semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch NANDO:1200355 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch NANDO:1200356 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:exactMatch NANDO:1200357 Chronic granulomatous disease semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:exactMatch NANDO:1200358 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch NANDO:1200359 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:exactMatch NANDO:1200361 IRAK4 deficiency semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch NANDO:1200362 MyD88 deficiency semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch NANDO:1200363 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0003832 complement deficiency skos:exactMatch NANDO:1200364 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:exactMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:exactMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:exactMatch NANDO:1200366 IgA nephropathy semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:exactMatch NANDO:1200367 Polycystic kidney disease semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch NANDO:1200368 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch NANDO:1200369 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch NANDO:1200371 Ossification of posterior longitudinal ligament semapv:MappingInversion +MONDO:0005965 spinal stenosis skos:exactMatch NANDO:1200372 Coexisting cervical and lumbar spinal stenosis semapv:MappingInversion +MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch NANDO:1200373 Idiopathic osteonecrosis of femoral head semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:exactMatch NANDO:1200375 Central diabetes insipidus semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0019611 TSH-secreting pituitary adenoma skos:exactMatch NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome semapv:MappingInversion +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch NANDO:1200379 Cushing disease semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:exactMatch NANDO:1200381 Central precocious puberty semapv:MappingInversion +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch NANDO:1200382 Idiopathic hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch NANDO:1200383 Congenital hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch NANDO:1200385 Growth hormone secreting pituitary adenoma semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:exactMatch NANDO:1200387 Hypopituitarism syndrome semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NANDO:1200388 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:exactMatch NANDO:1200390 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch NANDO:1200394 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:1200396 Congenital adrenal enzyme deficiency semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:1200397 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch NANDO:1200399 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch NANDO:1200400 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch NANDO:1200401 17-α-Hydroxylase deficiency semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NANDO:1200402 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0010226 46,XY sex reversal 2 skos:exactMatch NANDO:1200404 DAX1 abnormality semapv:MappingInversion +MONDO:0013066 46,XY sex reversal 3 skos:exactMatch NANDO:1200405 SF-1 abnormality semapv:MappingInversion +MONDO:0013873 IMAGe syndrome skos:exactMatch NANDO:1200406 IMAge syndrome semapv:MappingInversion +MONDO:0024536 glucocorticoid deficiency 1 skos:exactMatch NANDO:1200408 MC2R deficiency semapv:MappingInversion +MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch NANDO:1200409 MRAP deficiency semapv:MappingInversion +MONDO:0009279 triple-A syndrome skos:exactMatch NANDO:1200410 Allgrove syndrome semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:1200412 Autoimmune Addison's disease semapv:MappingInversion +MONDO:0019338 sarcoidosis skos:exactMatch NANDO:1200415 Sarcoidosis semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch NANDO:1200416 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0008345 obsolete idiopathic pulmonary fibrosis skos:exactMatch NANDO:1200417 Idiopathic pulmonary fibrosis semapv:MappingInversion +MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch NANDO:1200419 Non-specific interstitial pneumonia semapv:MappingInversion +MONDO:0019203 acute interstitial pneumonia skos:exactMatch NANDO:1200420 Acute interstitial pneumonia semapv:MappingInversion +MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch NANDO:1200421 Cryptogenic organizing pneumonia semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch NANDO:1200422 Desquamative interstitial pneumonia semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease semapv:MappingInversion +MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch NANDO:1200424 Lymphoid interstitial pneumonia semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NANDO:1200425 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch NANDO:1200427 Pulmonary veno-occlusive disease semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch NANDO:1200428 Pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch NANDO:1200429 Chronic thromboembolic pulmonary hypertension semapv:MappingInversion +MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch NANDO:1200430 Lymphangioleiomyomatosis semapv:MappingInversion +MONDO:0019200 retinitis pigmentosa skos:exactMatch NANDO:1200431 Retinitis pigmentosa semapv:MappingInversion +MONDO:0010947 Budd-Chiari syndrome skos:exactMatch NANDO:1200437 Budd-Chiari syndrome semapv:MappingInversion +MONDO:0021969 Banti syndrome skos:exactMatch NANDO:1200438 Idiopathic portal hypertension semapv:MappingInversion +MONDO:0005388 primary biliary cholangitis skos:exactMatch NANDO:1200439 Primary biliary cholangitis semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:exactMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:exactMatch NANDO:1200441 Autoimmune hepatitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:exactMatch NANDO:1200442 Typical autoimmune hepatitis semapv:MappingInversion +MONDO:0005011 Crohn disease skos:exactMatch NANDO:1200444 Crohn's disease semapv:MappingInversion +MONDO:0005539 small bowel Crohn disease skos:exactMatch NANDO:1200445 small bowel Crohn disease semapv:MappingInversion +MONDO:0005011 Crohn disease skos:exactMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005532 Crohn's colitis skos:exactMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005534 ileocolitis skos:exactMatch NANDO:1200447 Crohn ileocolitis semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:exactMatch NANDO:1200449 Ulcerative colitis semapv:MappingInversion +MONDO:0005536 pancolitis skos:exactMatch NANDO:1200450 Pan-ulcerative colitis semapv:MappingInversion +MONDO:0005533 distal colitis skos:exactMatch NANDO:1200451 Left-sided colitis semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch NANDO:1200454 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0005361 eosinophilic esophagitis skos:exactMatch NANDO:1200456 Eosinophilic esophagitis semapv:MappingInversion +MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch NANDO:1200457 Eosinophilic gastroenteritis semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:exactMatch NANDO:1200460 Congenital isolated hypoganglionosis semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch NANDO:1200461 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch NANDO:1200462 CFC Syndrome semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:exactMatch NANDO:1200463 Costello syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:exactMatch NANDO:1200464 CHARGE syndrome semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch NANDO:1200465 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:1200466 Familial cold autoinflammatorysyndrome semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:exactMatch NANDO:1200467 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:exactMatch NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NANDO:1200469 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NANDO:1200470 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch NANDO:1200471 Articular-type juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch NANDO:1200472 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:1200473 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:1200474 Congenital atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:exactMatch NANDO:1200476 Blau syndrome semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:exactMatch NANDO:1200477 Congenital myopathy semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:exactMatch NANDO:1200478 Nemaline myopathy semapv:MappingInversion +MONDO:0007294 central core myopathy skos:exactMatch NANDO:1200479 Central core disease semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:exactMatch NANDO:1200480 Minicore myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:exactMatch NANDO:1200481 Myotubular myopathy semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:exactMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:exactMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch NANDO:1200483 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch NANDO:1200485 Marinesco-Sjogren syndrome semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:exactMatch NANDO:1200486 Muscular dystrophy semapv:MappingInversion +MONDO:0016147 qualitative or quantitative defects of dystrophin skos:exactMatch NANDO:1200487 Dystrophinopathies semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch NANDO:1200488 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:exactMatch NANDO:1200489 Becker muscular dystrophy semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch NANDO:1200490 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch NANDO:1200491 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch NANDO:1200492 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch NANDO:1200493 Oculopharyngeal muscular dystrophy semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch NANDO:1200494 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:exactMatch NANDO:1200495 Myotonic dystrophy semapv:MappingInversion +MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch NANDO:1200496 Non-dystrophic myotonia semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:exactMatch NANDO:1200497 Myotonia congenita semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:exactMatch NANDO:1200498 Thomsen disease semapv:MappingInversion +MONDO:0009715 myotonia congenita, autosomal recessive skos:exactMatch NANDO:1200499 Becker disease semapv:MappingInversion +MONDO:0018959 potassium-aggravated myotonia skos:exactMatch NANDO:1200500 Sodium channel myotonia semapv:MappingInversion +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch NANDO:1200501 Paramyotonia congenita semapv:MappingInversion +MONDO:0000995 familial periodic paralysis skos:exactMatch NANDO:1200502 Hereditary periodic paralysis semapv:MappingInversion +MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch NANDO:1200503 Hereditary hypokalemic periodic paralysis semapv:MappingInversion +MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch NANDO:1200504 Hereditary hyperkalemic periodic paralysis semapv:MappingInversion +MONDO:0017987 syringomyelia skos:exactMatch NANDO:1200506 Syringomyelia semapv:MappingInversion +MONDO:0017987 syringomyelia skos:exactMatch NANDO:1200507 Symptomatic syringomyelia semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:exactMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:exactMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0019399 Isaac syndrome skos:exactMatch NANDO:1200510 Isaacs syndrome semapv:MappingInversion +MONDO:0044807 inherited dystonia skos:exactMatch NANDO:1200511 Hereditary dystonia semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0044808 obsolete early onset primary dystonia skos:exactMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0009141 torsion dystonia 2 skos:exactMatch NANDO:1200513 Dystonia 2 semapv:MappingInversion +MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch NANDO:1200514 Dystonia 3 semapv:MappingInversion +MONDO:0007493 torsion dystonia 4 skos:exactMatch NANDO:1200515 Dystonia 4 semapv:MappingInversion +MONDO:0007495 dystonia 5 skos:exactMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:exactMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0011264 torsion dystonia 6 skos:exactMatch NANDO:1200517 Dystonia 6 semapv:MappingInversion +MONDO:0011200 torsion dystonia 7 skos:exactMatch NANDO:1200518 Dystonia 7 semapv:MappingInversion +MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch NANDO:1200519 Dystonia 8 semapv:MappingInversion +MONDO:0010983 dystonia 9 skos:exactMatch NANDO:1200520 Dystonia 9 semapv:MappingInversion +MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 skos:exactMatch NANDO:1200521 Dystonia 10 semapv:MappingInversion +MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch NANDO:1200522 Dystonia 11 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:exactMatch NANDO:1200523 Dystonia 12 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:exactMatch NANDO:1200524 Rapid-onset dystonia-parkinsonism semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:1200525 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss semapv:MappingInversion +MONDO:0011886 torsion dystonia 13 skos:exactMatch NANDO:1200527 Dystonia 13 semapv:MappingInversion +MONDO:0011844 myoclonic dystonia 15 skos:exactMatch NANDO:1200528 Dystonia 15 semapv:MappingInversion +MONDO:0012789 dystonia 16 skos:exactMatch NANDO:1200529 Dystonia 16 semapv:MappingInversion +MONDO:0012895 torsion dystonia 17 skos:exactMatch NANDO:1200530 Dystonia 17 semapv:MappingInversion +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch NANDO:1200531 Dystonia 18 semapv:MappingInversion +MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch NANDO:1200532 Dystonia 19 semapv:MappingInversion +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch NANDO:1200533 Dystonia 20 semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 semapv:MappingInversion +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A semapv:MappingInversion +MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:exactMatch NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:exactMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:exactMatch NANDO:1200542 Neuroferritinopathy semapv:MappingInversion +MONDO:0016594 superficial siderosis skos:exactMatch NANDO:1200543 Superficial siderosis semapv:MappingInversion +MONDO:0010829 CARASIL syndrome skos:exactMatch NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy semapv:MappingInversion +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy semapv:MappingInversion +MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:exactMatch NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid semapv:MappingInversion +MONDO:0008201 Perry syndrome skos:exactMatch NANDO:1200547 Perry syndrome semapv:MappingInversion +MONDO:0017276 frontotemporal dementia skos:exactMatch NANDO:1200548 Frontotemporal lobar degeneration semapv:MappingInversion +MONDO:0017160 behavioral variant of frontotemporal dementia skos:exactMatch NANDO:1200549 Behavioral variant frontotemporal dementia semapv:MappingInversion +MONDO:0010857 semantic dementia skos:exactMatch NANDO:1200550 Semantic dementia semapv:MappingInversion +MONDO:0019208 Bickerstaff brainstem encephalitis skos:exactMatch NANDO:1200551 Bickerstaff's brainstem encephalitis semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch NANDO:1200553 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0008752 Alexander disease skos:exactMatch NANDO:1200554 Alexander disease semapv:MappingInversion +MONDO:0018209 Alexander disease type I skos:exactMatch NANDO:1200555 Alexander disease type I semapv:MappingInversion +MONDO:0018210 Alexander disease type II skos:exactMatch NANDO:1200556 Alexander disease type II semapv:MappingInversion +MONDO:0008503 Worster-Drought syndrome skos:exactMatch NANDO:1200558 Congenital suprabulbar paresis semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:exactMatch NANDO:1200559 Moebius syndrome semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:exactMatch NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:exactMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0010568 Aicardi syndrome skos:exactMatch NANDO:1200562 Aicardi syndrome semapv:MappingInversion +MONDO:0020492 hemimegalencephaly skos:exactMatch NANDO:1200563 Hemimegalencephaly semapv:MappingInversion +MONDO:0019009 isolated focal cortical dysplasia skos:exactMatch NANDO:1200564 Focal cortical dysplasia semapv:MappingInversion +MONDO:0017096 isolated focal cortical dysplasia type Ia skos:exactMatch NANDO:1200565 Focal cortical dysplasia type 1a semapv:MappingInversion +MONDO:0017097 isolated focal cortical dysplasia type Ib skos:exactMatch NANDO:1200566 Focal cortical dysplasia type 1b semapv:MappingInversion +MONDO:0017098 isolated focal cortical dysplasia type Ic skos:exactMatch NANDO:1200567 Focal cortical dysplasia type 1c semapv:MappingInversion +MONDO:0017101 isolated focal cortical dysplasia type IIa skos:exactMatch NANDO:1200568 Focal cortical dysplasia type 2a semapv:MappingInversion +MONDO:0017102 isolated focal cortical dysplasia type IIb skos:exactMatch NANDO:1200569 Focal cortical dysplasia type 2b semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch NANDO:1200574 Neuronal migration defects semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:exactMatch NANDO:1200575 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:exactMatch NANDO:1200576 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch NANDO:1200577 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch NANDO:1200579 18q-syndrome semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch NANDO:1200580 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch NANDO:1200581 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0011449 Salla disease skos:exactMatch NANDO:1200582 Salla disease semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch NANDO:1200584 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:exactMatch NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:exactMatch NANDO:1200587 Dravet syndrome semapv:MappingInversion +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:exactMatch NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis semapv:MappingInversion +MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch NANDO:1200589 Myoclonic absence epilepsy semapv:MappingInversion +MONDO:0016025 myoclonic-astatic epilepsy skos:exactMatch NANDO:1200590 Epilepsy with myoclonic atonic seizures semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch NANDO:1200591 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0018097 West syndrome skos:exactMatch NANDO:1200592 West syndrome semapv:MappingInversion +MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NANDO:1200593 Ohtahara syndrome semapv:MappingInversion +MONDO:0016022 early myoclonic encephalopathy skos:exactMatch NANDO:1200594 Early myoclonic encephalopathy semapv:MappingInversion +MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome semapv:MappingInversion +MONDO:0015436 ring chromosome 20 skos:exactMatch NANDO:1200597 Ring chromosome 20 syndrome semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NANDO:1200598 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch NANDO:1200599 PCDH19-related syndrome semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0019123 continuous spikes and waves during sleep skos:exactMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0022858 continuous spike-wave during slow sleep syndrome skos:exactMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch NANDO:1200602 Landau-Kleffner syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:exactMatch NANDO:1200603 Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:exactMatch NANDO:1200604 Typical Rett syndrome semapv:MappingInversion +MONDO:0017746 atypical Rett syndrome skos:exactMatch NANDO:1200605 Atypical Rett syndrome semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:exactMatch NANDO:1200606 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:exactMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:exactMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:exactMatch NANDO:1200608 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:exactMatch NANDO:1200609 Congenital ichthyosis semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:exactMatch NANDO:1200610 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch NANDO:1200611 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch NANDO:1200612 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch NANDO:1200613 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch NANDO:1200614 Harlequin ichthyosis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch NANDO:1200616 Congenital ichthyosiform erythroderma semapv:MappingInversion +MONDO:0017778 lamellar ichthyosis skos:exactMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0019269 ichthyosis skos:exactMatch NANDO:1200618 Ichthyosis syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:exactMatch NANDO:1200619 Netherton syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch NANDO:1200620 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0018781 KID syndrome skos:exactMatch NANDO:1200621 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:exactMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch NANDO:1200623 Neutral lipid storage disease with ichthyosis semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:exactMatch NANDO:1200624 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch NANDO:1200625 Recessive X-linked ichtyosis semapv:MappingInversion +MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature semapv:MappingInversion +MONDO:0018053 trichothiodystrophy skos:exactMatch NANDO:1200627 Trichothiodystrophy semapv:MappingInversion +MONDO:0043094 ichthyosis, follicular skos:exactMatch NANDO:1200628 Ichthyosis follicularis semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:exactMatch NANDO:1200629 CHILD syndrome semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch NANDO:1200630 Conradi Hünermann Happle syndrome semapv:MappingInversion +MONDO:0008218 Hailey-Hailey disease skos:exactMatch NANDO:1200631 Benign familial pemphigus semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:exactMatch NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:exactMatch NANDO:1200633 Bullous pemphigoid semapv:MappingInversion +MONDO:0018746 mucous membrane pemphigoid skos:exactMatch NANDO:1200634 Mucous membrane pemphigoid semapv:MappingInversion +MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch NANDO:1200635 Epidermolysis bullosa acquisita semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:exactMatch NANDO:1200637 Oculocutaneous albinism semapv:MappingInversion +MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch NANDO:1200638 Hermansky-Pudlak syndrome semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NANDO:1200639 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0018306 Griscelli syndrome skos:exactMatch NANDO:1200640 Griscelli syndrome semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:exactMatch NANDO:1200641 Non-syndromic oculocutaneous albinism semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:exactMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch NANDO:1200643 Pseudoxanthoma elasticum semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:exactMatch NANDO:1200644 Marfan syndrome semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch NANDO:1200645 Ehlers-Danlos Syndrome semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch NANDO:1200646 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch NANDO:1200648 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0010651 Menkes disease skos:exactMatch NANDO:1200653 Menkes disease semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:exactMatch NANDO:1200654 Occipital horn syndrome semapv:MappingInversion +MONDO:0010200 Wilson disease skos:exactMatch NANDO:1200655 Wilson disease semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:exactMatch NANDO:1200656 Hypophosphatasia semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:exactMatch NANDO:1200657 VATER syndrome semapv:MappingInversion +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch NANDO:1200658 Nasu-Hakola disease semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:exactMatch NANDO:1200659 Weaver syndrome semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch NANDO:1200660 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch NANDO:1200661 Joubert syndrome and related disorders semapv:MappingInversion +MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch NANDO:1200662 Arima syndrome semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch NANDO:1200663 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:exactMatch NANDO:1200664 Williams syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NANDO:1200665 ATR-X syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:exactMatch NANDO:1200666 Crouzon's syndrome semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:exactMatch NANDO:1200667 Apert syndrome semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:exactMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:exactMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:exactMatch NANDO:1200669 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:exactMatch NANDO:1200670 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch NANDO:1200671 Rothmund-Thomson syndrome semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:exactMatch NANDO:1200672 Kabuki syndrome semapv:MappingInversion +MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0018878 branchiootic syndrome skos:exactMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:exactMatch NANDO:1200676 Werner syndrome semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:exactMatch NANDO:1200677 Cockayne syndrome semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:exactMatch NANDO:1200678 Prader-Willi syndrome semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:exactMatch NANDO:1200679 Sotos syndrome semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:exactMatch NANDO:1200680 Noonan syndrome semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch NANDO:1200681 Young-Simpson syndrome semapv:MappingInversion +MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch NANDO:1200682 1p36 deletion syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch NANDO:1200683 4p deletion syndrome semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:exactMatch NANDO:1200684 5p deletion syndrome semapv:MappingInversion +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch NANDO:1200685 Paternal uniparental disomy of chromosome 14 semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:exactMatch NANDO:1200686 Angelman syndrome semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:exactMatch NANDO:1200687 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:exactMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:exactMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0012176 Emanuel syndrome skos:exactMatch NANDO:1200689 Emanuel syndrome semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch NANDO:1200690 Fragile X syndrome related diseases semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch NANDO:1200691 Fragile X tremor/ataxia syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:exactMatch NANDO:1200692 Fragile X syndrome semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:exactMatch NANDO:1200693 Truncus arteriosus communis semapv:MappingInversion +MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch NANDO:1200698 Corrected transposition of great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:1200699 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:exactMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:exactMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0015451 univentricular heart skos:exactMatch NANDO:1200704 Single ventricle semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NANDO:1200705 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:1200706 Tricuspid atresia semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch NANDO:1200707 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch NANDO:1200708 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:exactMatch NANDO:1200709 Tetralogy of Fallot semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:exactMatch NANDO:1200710 Double outlet right ventricle semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:exactMatch NANDO:1200711 Ebstein's anomaly semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:exactMatch NANDO:1200712 Alport's syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NANDO:1200713 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:exactMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NANDO:1200718 Goodpasture syndrome semapv:MappingInversion +MONDO:0018170 idiopathic nephrotic syndrome skos:exactMatch NANDO:1200719 Primary nephrotic syndrome semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:exactMatch NANDO:1200720 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:exactMatch NANDO:1200721 Membranous nephropathy semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:exactMatch NANDO:1200722 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:exactMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:exactMatch NANDO:1200725 Primary membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch NANDO:1200726 Primary membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0019736 dense deposit disease skos:exactMatch NANDO:1200739 Primary membranoproliferative glomerulonephritis type II semapv:MappingInversion +MONDO:0006785 obsolete Henoch-Schoenlein purpura skos:exactMatch NANDO:1200741 Henoch-Schonlein purpura nephritis semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch NANDO:1200742 Congenital nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0018301 interstitial cystitis skos:exactMatch NANDO:1200743 Interstitial cystitis (Hunner type) semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NANDO:1200744 Osler disease semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NANDO:1200745 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch NANDO:1200747 Autoimmune pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch NANDO:1200748 Idiopathic pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0018483 secondary pulmonary alveolar proteinosis skos:exactMatch NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch NANDO:1200750 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:exactMatch NANDO:1200751 Alveolar hypoventilation syndrome semapv:MappingInversion +MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch NANDO:1200752 Obesity hypoventilation syndrome semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:exactMatch NANDO:1200753 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NANDO:1200755 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0015285 Carney complex skos:exactMatch NANDO:1200756 Carney complex semapv:MappingInversion +MONDO:0018105 Wolfram syndrome skos:exactMatch NANDO:1200757 Wolfram syndrome semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:exactMatch NANDO:1200758 Peroxisomal disorder semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NANDO:1200759 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0019609 Zellweger spectrum disorders skos:exactMatch NANDO:1200760 Zellweger syndrome semapv:MappingInversion +MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:exactMatch NANDO:1200761 Neonatal adrenoleukodystrophy semapv:MappingInversion +MONDO:0019174 obsolete infantile Refsum disease skos:exactMatch NANDO:1200762 Infantile Refsum disease semapv:MappingInversion +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 semapv:MappingInversion +MONDO:0019233 disorder of peroxisomal beta oxidation skos:exactMatch NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency semapv:MappingInversion +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency semapv:MappingInversion +MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch NANDO:1200766 D-bifunctional protein deficiency semapv:MappingInversion +MONDO:0013391 sterol carrier protein 2 deficiency skos:exactMatch NANDO:1200767 Sterol carrier protein 2 deficiency semapv:MappingInversion +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:exactMatch NANDO:1200769 Refsum disease semapv:MappingInversion +MONDO:0017986 disorder of plasmalogens biosynthesis skos:exactMatch NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency semapv:MappingInversion +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 semapv:MappingInversion +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 semapv:MappingInversion +MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch NANDO:1200773 Primary hyperoxaluria type 1 semapv:MappingInversion +MONDO:0013571 acatalasia skos:exactMatch NANDO:1200774 Acatalasemia semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:exactMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NANDO:1200776 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:1200780 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:exactMatch NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia semapv:MappingInversion +MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch NANDO:1200782 Vitamin D-dependent rickets, type 1 semapv:MappingInversion +MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch NANDO:1200783 Vitamin D-dependent rickets, type 2 semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:exactMatch NANDO:1200784 Phenylketonuria semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:exactMatch NANDO:1200785 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch NANDO:1200786 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:exactMatch NANDO:1200788 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:exactMatch NANDO:1200789 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:exactMatch NANDO:1200790 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:exactMatch NANDO:1200791 Maple syrup urine disease semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:exactMatch NANDO:1200792 Propionic acidemia semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:exactMatch NANDO:1200793 Methylmalonic acidemia semapv:MappingInversion +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch NANDO:1200795 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch NANDO:1200796 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch NANDO:1200797 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:exactMatch NANDO:1200798 Isovaleric acidemia semapv:MappingInversion +MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch NANDO:1200800 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:1200801 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0004739 urea cycle disorder skos:exactMatch NANDO:1200802 Urea cycle disorder semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch NANDO:1200803 Carbamoyl phosphate synthetase I deficiency semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch NANDO:1200804 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:exactMatch NANDO:1200805 Classic citrullinemia semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:exactMatch NANDO:1200806 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:exactMatch NANDO:1200807 Argininemia semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NANDO:1200808 NAGS deficiency semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:exactMatch NANDO:1200809 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:exactMatch NANDO:1200810 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0037939 porphyria skos:exactMatch NANDO:1200811 Porphyria semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:exactMatch NANDO:1200812 Acute intermittent porphyria semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:exactMatch NANDO:1200813 Hereditary coproporphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:exactMatch NANDO:1200814 Variegate porphyria semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0019263 autosomal erythropoietic protoporphyria skos:exactMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:exactMatch NANDO:1200816 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:exactMatch NANDO:1200817 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch NANDO:1200818 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch NANDO:1200819 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:exactMatch NANDO:1200820 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch NANDO:1200821 Holocarboxylase synthetase deficiency semapv:MappingInversion +MONDO:0009665 biotinidase deficiency skos:exactMatch NANDO:1200822 Biotinidase deficiency semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:exactMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency skos:exactMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:exactMatch NANDO:1200825 Glycogen storage diseases type II semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:1200826 Glycogen storage diseases type III semapv:MappingInversion +MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:exactMatch NANDO:1200828 Glycogen storage diseases type V semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:exactMatch NANDO:1200829 Glycogen storage diseases type VII semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:exactMatch NANDO:1200830 Glycogen storage diseases type IXd semapv:MappingInversion +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch NANDO:1200831 Phosphoglycerate kinase deficiency semapv:MappingInversion +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch NANDO:1200832 Glycogen storage diseases type X semapv:MappingInversion +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch NANDO:1200833 Glycogen storage diseases type XI semapv:MappingInversion +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch NANDO:1200834 Glycogen storage diseases type XII semapv:MappingInversion +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch NANDO:1200835 Glycogen storage diseases type XIII semapv:MappingInversion +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch NANDO:1200836 Glycogen storage diseases type XIV semapv:MappingInversion +MONDO:0013291 glycogen storage disease XV skos:exactMatch NANDO:1200837 Glycogen storage diseases type XV semapv:MappingInversion +MONDO:0002412 disorder of glycogen metabolism skos:exactMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:exactMatch NANDO:1200840 Hepatic glycogen storage disease type Ia semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:exactMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:1200844 Hepatic GSD type IIIc semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:exactMatch NANDO:1200846 Hepatic glycogen storage disease type VI semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch NANDO:1200847 Hepatic glycogen storage disease type IXa semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:exactMatch NANDO:1200848 Hepatic glycogen storage disease type IXb semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:exactMatch NANDO:1200849 Hepatic glycogen storage disease type IXc semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NANDO:1200850 Hepatic glycogen storage disease type IV semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:exactMatch NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009515 Norum disease skos:exactMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0018999 LCAT deficiency skos:exactMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0008863 sitosterolemia skos:exactMatch NANDO:1200853 Sitosterolemia semapv:MappingInversion +MONDO:0008783 Tangier disease skos:exactMatch NANDO:1200854 Tangier disease semapv:MappingInversion +MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NANDO:1200856 Cerebrotendinous xanthomatosis semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:exactMatch NANDO:1200857 Abetalipoproteinemia semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:exactMatch NANDO:1200858 Lipodystrophy semapv:MappingInversion +MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch NANDO:1200860 Acquired generalized lipodystrophy semapv:MappingInversion +MONDO:0020088 familial partial lipodystrophy skos:exactMatch NANDO:1200861 Familial partial lipodystrophy semapv:MappingInversion +MONDO:0012104 acquired partial lipodystrophy skos:exactMatch NANDO:1200862 Acquired partial lipodystrophy semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:exactMatch NANDO:1200863 Familial Mediterranean fever semapv:MappingInversion +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:exactMatch NANDO:1200864 Typical familial Mediterranean fever semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0012481 mevalonic aciduria skos:exactMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch NANDO:1200867 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch NANDO:1200869 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0005306 ankylosing spondylitis skos:exactMatch NANDO:1200870 Ankylosing spondylitis semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:exactMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:exactMatch NANDO:1200873 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0017042 thanatophoric dysplasia skos:exactMatch NANDO:1200874 Thanatophoric dysplasia semapv:MappingInversion +MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch NANDO:1200875 Thanatophoric dysplasia type 1 semapv:MappingInversion +MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch NANDO:1200876 Thanatophoric dysplasia type 2 semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:exactMatch NANDO:1200877 Achondroplasia semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:exactMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:exactMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:exactMatch NANDO:1200879 obsolete Lymphangiomatosis semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:exactMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:exactMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0019328 macrocystic lymphatic malformation skos:exactMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch NANDO:1200884 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NANDO:1200885 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch NANDO:1200886 Congenital dyserythropoietic anemia type I semapv:MappingInversion +MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch NANDO:1200887 Congenital dyserythropoietic anemia type II semapv:MappingInversion +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch NANDO:1200888 Congenital dyserythropoietic anemia type III semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:exactMatch NANDO:1200889 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch NANDO:1200890 Diamond-Blackfan anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:exactMatch NANDO:1200891 Fanconi anemia semapv:MappingInversion +MONDO:0020099 inherited sideroblastic anemia skos:exactMatch NANDO:1200892 Hereditary sideroblastic anemia semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:1200893 Epstein syndrome semapv:MappingInversion +MONDO:0020599 acquired coagulation factor deficiency skos:exactMatch NANDO:1200896 Autoimmune acquired coagulation factor deficiency semapv:MappingInversion +MONDO:0021133 acquired factor XIII deficiency skos:exactMatch NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 semapv:MappingInversion +MONDO:0019139 acquired hemophilia skos:exactMatch NANDO:1200898 Acquired hemophilia A semapv:MappingInversion +MONDO:0020460 acquired von willebrand syndrome skos:exactMatch NANDO:1200899 Acquired von Willebrand disease semapv:MappingInversion +MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch NANDO:1200901 Cronkhite-Canada syndrome semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:exactMatch NANDO:1200903 Hirschsprung disease semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:1200909 Cloacal exstrophy semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:1200910 Persistent cloaca semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NANDO:1200911 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0008867 biliary atresia skos:exactMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:exactMatch NANDO:1200918 Alagille syndrome semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:exactMatch NANDO:1200919 Typical Alagille syndrome semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch NANDO:1200921 Hereditary pancreatitis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:1200922 Cystic fibrosis semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:exactMatch NANDO:1200923 IgG4-related disease semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:exactMatch NANDO:1200924 IgG4-related disease semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:exactMatch NANDO:1200925 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0018645 IgG4-related sclerosing cholangitis skos:exactMatch NANDO:1200928 IgG4-related sclerosing cholangitis semapv:MappingInversion +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis semapv:MappingInversion +MONDO:0018671 IgG4-related kidney disease skos:exactMatch NANDO:1200930 IgG4-related kidney disease semapv:MappingInversion +MONDO:0020242 hereditary macular dystrophy skos:exactMatch NANDO:1200931 Macular dystrophy semapv:MappingInversion +MONDO:0000390 vitelliform macular dystrophy skos:exactMatch NANDO:1200932 Vitelliform macular dystrophy semapv:MappingInversion +MONDO:0019353 Stargardt disease skos:exactMatch NANDO:1200933 Stargardt disease semapv:MappingInversion +MONDO:0013316 occult macular dystrophy skos:exactMatch NANDO:1200934 Occult macular dystrophy semapv:MappingInversion +MONDO:0000455 cone dystrophy skos:exactMatch NANDO:1200936 Cone dystrophy semapv:MappingInversion +MONDO:0015993 cone-rod dystrophy skos:exactMatch NANDO:1200937 Cone-rod dystrophy semapv:MappingInversion +MONDO:0010725 X-linked retinoschisis skos:exactMatch NANDO:1200938 X-linked juvenile retinoschisis semapv:MappingInversion +MONDO:0004890 partial central choroid dystrophy skos:exactMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch NANDO:1200940 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0019501 Usher syndrome skos:exactMatch NANDO:1200941 Usher syndrome semapv:MappingInversion +MONDO:0010168 Usher syndrome type 1 skos:exactMatch NANDO:1200942 Usher syndrome type I semapv:MappingInversion +MONDO:0016484 Usher syndrome type 2 skos:exactMatch NANDO:1200943 Usher syndrome Type II semapv:MappingInversion +MONDO:0016485 Usher syndrome type 3 skos:exactMatch NANDO:1200944 Usher syndrome Type III semapv:MappingInversion +MONDO:0010079 Canavan disease skos:exactMatch NANDO:1200948 Canavan disease semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:exactMatch NANDO:1200951 Vanishing white matter disease semapv:MappingInversion +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch NANDO:1200953 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch NANDO:1200954 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009697 Lafora disease skos:exactMatch NANDO:1200955 Lafora disease semapv:MappingInversion +MONDO:0019448 benign adult familial myoclonic epilepsy skos:exactMatch NANDO:1200956 Benign adult familial myoclonus epilepsy semapv:MappingInversion +MONDO:0000839 obsolete congenital abnormality skos:exactMatch NANDO:1200957 Congenital anomalies syndrome semapv:MappingInversion +MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:exactMatch NANDO:1200958 Partial trisomy 1q semapv:MappingInversion +MONDO:0012455 Kleefstra syndrome skos:exactMatch NANDO:1200959 9q34 deletion syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch NANDO:1200960 Cornelia de lange syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch NANDO:1200961 Smith-lemli-opitz syndrome semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0019813 congenital tricuspid stenosis skos:exactMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:exactMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0020398 congenital mitral stenosis skos:exactMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch NANDO:1200964 Congenital pulmonary vein stenosis semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:exactMatch NANDO:1200967 Nail-patella syndrome semapv:MappingInversion +MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:exactMatch NANDO:1200969 Carnitine cycle disorders semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch NANDO:1200970 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:1200971 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch NANDO:1200972 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch NANDO:1200973 Systemic primary carnitine deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NANDO:1200974 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:exactMatch NANDO:1200978 Citrin deficiency semapv:MappingInversion +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency semapv:MappingInversion +MONDO:0011326 citrullinemia, type II, adult-onset skos:exactMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0016603 citrullinemia type II skos:exactMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch NANDO:1200982 Sepiapterin reductase deficiency semapv:MappingInversion +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:exactMatch NANDO:1200984 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017353 neonatal glycine encephalopathy skos:exactMatch NANDO:1200985 Neonatal nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017354 infantile glycine encephalopathy skos:exactMatch NANDO:1200986 Infantile nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch NANDO:1200987 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch NANDO:1200989 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch NANDO:1200990 3-methylglutaconic aciduria type I semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:exactMatch NANDO:1200991 3-methylglutaconicaciduria type II semapv:MappingInversion +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch NANDO:1200992 3-methylglutaconic aciduria type III semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch NANDO:1200994 NLRC4 mutation semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NANDO:1200995 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch NANDO:1200996 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:exactMatch NANDO:1200997 A20 haploinsufficiency semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:exactMatch NANDO:1200998 Osteopetrosis semapv:MappingInversion +MONDO:0019503 anterior segment dysgenesis skos:exactMatch NANDO:1201000 Anterior segment dysgenesis semapv:MappingInversion +MONDO:0019172 aniridia skos:exactMatch NANDO:1201001 Aniridia semapv:MappingInversion +MONDO:0011340 congenital tracheal stenosis skos:exactMatch NANDO:1201003 Congenital tracheal stenosis semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:exactMatch NANDO:1201004 Congenital subglottic stenosis semapv:MappingInversion +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch NANDO:1201006 Gelatinous drop-like corneal dystrophy semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch NANDO:1201007 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NANDO:1201009 Systemic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0016356 diffuse cutaneous systemic sclerosis skos:exactMatch NANDO:1201010 Diffuse cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0019563 CREST syndrome skos:exactMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:exactMatch NANDO:1201018 Hepatic glycogen storage disease type I semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:1201019 Hepatic glycogen storage disease type III semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch NANDO:1201020 Hepatic glycogen storage disease type IX semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:1201021 Cystic fibrosis semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch NANDO:1201029 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch NANDO:1201032 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:exactMatch NANDO:1201033 Arginine:glycine amidinotransferase deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NANDO:1201034 Guanidinoacetate methyltransferase deficiency semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:exactMatch NANDO:1201035 Creatine transporter deficiency semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:exactMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:exactMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 semapv:MappingInversion +MONDO:0004737 homocystinuria skos:exactMatch NANDO:1201038 Homocystinuria semapv:MappingInversion +MONDO:0009352 classic homocystinuria skos:exactMatch NANDO:1201039 Homocystinuria type 1 semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch NANDO:1201040 Homocystinuria type 2 semapv:MappingInversion +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch NANDO:1201041 Homocystinuria type 3 semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch NANDO:1201042 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 semapv:MappingInversion +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 semapv:MappingInversion +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 semapv:MappingInversion +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 semapv:MappingInversion +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 semapv:MappingInversion +MONDO:0021134 acquired factor X deficiency skos:exactMatch NANDO:1201048 Acquired factor X inhibitor semapv:MappingInversion +MONDO:0017842 Senior-Loken syndrome skos:exactMatch NANDO:1201049 Senior-Loken syndrome semapv:MappingInversion +MONDO:0008996 obsolete COACH syndrome 1 skos:exactMatch NANDO:1201050 COACH syndrome semapv:MappingInversion +MONDO:0015375 orofaciodigital syndrome skos:exactMatch NANDO:1201051 Oral-facial-digital syndrome semapv:MappingInversion +MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch NANDO:1201056 End-plate acetylcholine esterase deficiency semapv:MappingInversion +MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea semapv:MappingInversion +MONDO:0009955 rapadilino syndrome skos:exactMatch NANDO:1201058 RAPADILINO syndrome semapv:MappingInversion +MONDO:0009039 Baller-Gerold syndrome skos:exactMatch NANDO:1201059 Baller-Gerold syndrome semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:exactMatch NANDO:1201060 Familial amyloid polyneuropathy type 1 semapv:MappingInversion +MONDO:0019731 AApoAI amyloidosis skos:exactMatch NANDO:1201062 Familial amyloid polyneuropathy type 3 semapv:MappingInversion +MONDO:0007097 Finnish type amyloidosis skos:exactMatch NANDO:1201063 Familial amyloid polyneuropathy type 4 semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch NANDO:1201064 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch NANDO:1201065 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:exactMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:exactMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:exactMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:exactMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0020491 subcortical band heterotopia skos:exactMatch NANDO:1201070 Subcortical band heterotopia semapv:MappingInversion +MONDO:0000087 polymicrogyria skos:exactMatch NANDO:1201071 Polymicrogyria semapv:MappingInversion +MONDO:0018869 cobblestone lissencephaly skos:exactMatch NANDO:1201072 Cobblestone brain malformation semapv:MappingInversion +MONDO:0010011 schizencephaly skos:exactMatch NANDO:1201073 Schizencephaly semapv:MappingInversion +MONDO:0017410 porencephaly skos:exactMatch NANDO:1201074 Porencephaly semapv:MappingInversion +MONDO:0007078 Pseudohypoparathyroidism type 1A skos:exactMatch NANDO:1201075 Pseudohypoparathyroidism type 1A semapv:MappingInversion +MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch NANDO:1201076 Pseudohypoparathyroidism type 1B semapv:MappingInversion +MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch NANDO:1201077 Pseudohypoparathyroidism type 1C semapv:MappingInversion +MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch NANDO:1201078 Pseudohypoparathyroidism type 2 semapv:MappingInversion +MONDO:0020341 periventricular nodular heterotopia skos:exactMatch NANDO:1201079 Periventricular nodular heterotopia semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NANDO:1201080 Protein C deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:exactMatch NANDO:1201081 Protein S deficiency semapv:MappingInversion +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch NANDO:1201083 Miller Dieker syndrome semapv:MappingInversion +MONDO:0004355 childhood leukemia skos:exactMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0005059 leukemia skos:exactMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:exactMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:exactMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0003659 pediatric lymphoma skos:exactMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0003660 adult lymphoma skos:exactMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0005062 lymphoma skos:exactMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0002637 histiocytosis skos:exactMatch NANDO:2100005 Histiocytosis semapv:MappingInversion +MONDO:0002714 central nervous system cancer skos:exactMatch NANDO:2100007 Central nervous system tumors semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:exactMatch NANDO:2100008 Chronic kidney disease semapv:MappingInversion +MONDO:0005377 nephrotic syndrome skos:exactMatch NANDO:2100009 Nephrotic syndrome semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:exactMatch NANDO:2100012 Chronic pyelonephritis semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch NANDO:2100014 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:exactMatch NANDO:2100015 Nephronophthisis semapv:MappingInversion +MONDO:0001105 renal hypertension skos:exactMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:exactMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:exactMatch NANDO:2100019 Renal tubular acidosis semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:exactMatch NANDO:2100020 Gitelman syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:exactMatch NANDO:2100021 Bartter syndrome semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:exactMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0024327 chronic renal failure syndrome skos:exactMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch NANDO:2100027 Fanconi syndrome semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch NANDO:2100028 Lowe syndrome semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:exactMatch NANDO:2100031 Bronchial asthma semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:exactMatch NANDO:2100032 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NANDO:2100034 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:2100035 Cystic fibrosis semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:exactMatch NANDO:2100036 Bronchiectasis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:exactMatch NANDO:2100037 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NANDO:2100039 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NANDO:2100040 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:exactMatch NANDO:2100043 Sick sinus syndrome semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch NANDO:2100044 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:exactMatch NANDO:2100046 Bundle branch block semapv:MappingInversion +MONDO:0005477 ventricular tachycardia skos:exactMatch NANDO:2100049 Ventricular tachycardia semapv:MappingInversion +MONDO:0005310 atrial flutter skos:exactMatch NANDO:2100050 Atrial flutter semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:exactMatch NANDO:2100051 Atrial fibrillation semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:exactMatch NANDO:2100052 Ventricular fibrillation semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:exactMatch NANDO:2100053 Long QT syndrome semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:2100054 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:exactMatch NANDO:2100057 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:2100058 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:exactMatch NANDO:2100060 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:exactMatch NANDO:2100061 Cardiac tumor semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:exactMatch NANDO:2100064 Constrictive pericarditis semapv:MappingInversion +MONDO:0024644 myocardial ischemia skos:exactMatch NANDO:2100070 Ischemic heart disease semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NANDO:2100071 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:2100073 Tricuspid atresia semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:exactMatch NANDO:2100075 Tetralogy of Fallot semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:exactMatch NANDO:2100076 Double outlet right ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:exactMatch NANDO:2100077 Double-outlet left ventricle semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:2100079 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:exactMatch NANDO:2100080 Ebstein's anomaly semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:exactMatch NANDO:2100082 Aorto-pulmonary window semapv:MappingInversion +MONDO:0015450 triatrial heart skos:exactMatch NANDO:2100083 Cor triatriatum semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:exactMatch NANDO:2100084 Patent ductus arteriosus semapv:MappingInversion +MONDO:0006664 atrial septal defect skos:exactMatch NANDO:2100085 Atrial septal defect semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:exactMatch NANDO:2100086 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:exactMatch NANDO:2100087 Ventricular septal defect semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:exactMatch NANDO:2100090 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch NANDO:2100092 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NANDO:2100093 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:exactMatch NANDO:2100095 Absent pulmonary valve semapv:MappingInversion +MONDO:0004978 obsolete aortic stenosis skos:exactMatch NANDO:2100098 Aortic stenosis semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:exactMatch NANDO:2100101 Aortic aneurysm semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NANDO:2100103 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0002869 heart valve disorder skos:exactMatch NANDO:2100105 Valvular heart disease semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:exactMatch NANDO:2100109 Endocrine disease semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:exactMatch NANDO:2100110 Hypopituitarism semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:exactMatch NANDO:2100111 Pituitary gigantism semapv:MappingInversion +MONDO:0019933 acromegaly skos:exactMatch NANDO:2100112 Acromegaly semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch NANDO:2100114 Growth hormone insensitivity semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:exactMatch NANDO:2100115 Hyperprolactinemia semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0004782 diabetes insipidus skos:exactMatch NANDO:2100117 Diabetes insipidus semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:exactMatch NANDO:2100119 Hyperthyroidism semapv:MappingInversion +MONDO:0005420 hypothyroidism skos:exactMatch NANDO:2100120 Hypothyroidism semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:exactMatch NANDO:2100123 Hyperparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:exactMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch NANDO:2100125 Autoimmune polyendocrinopathy semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NANDO:2100126 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:exactMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:exactMatch NANDO:2100131 Liddle syndrome semapv:MappingInversion +MONDO:0015900 hypoaldosteronism disease skos:exactMatch NANDO:2100132 Hypoaldosteronism semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:exactMatch NANDO:2100133 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:2100134 Congenital adrenal hyperplasia semapv:MappingInversion +MONDO:0000088 precocious puberty skos:exactMatch NANDO:2100135 Precocious puberty semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NANDO:2100138 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0005387 primary ovarian failure skos:exactMatch NANDO:2100139 Hypergonadotropic hypogonadism semapv:MappingInversion +MONDO:0002145 disorder of sexual differentiation skos:exactMatch NANDO:2100140 Disorders of sex development semapv:MappingInversion +MONDO:0019959 glucagonoma skos:exactMatch NANDO:2100142 Glucagonoma semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:exactMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:exactMatch NANDO:2100144 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:exactMatch NANDO:2100147 Lipodystrophy semapv:MappingInversion +MONDO:0017169 multiple endocrine neoplasia skos:exactMatch NANDO:2100148 Multiple endocrine neoplasia semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:exactMatch NANDO:2100149 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:exactMatch NANDO:2100151 Collagen disease semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:exactMatch NANDO:2100152 Collagen disease semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:exactMatch NANDO:2100154 Relapsing Polychondritis semapv:MappingInversion +MONDO:0019751 autoinflammatory syndrome skos:exactMatch NANDO:2100156 Autoinflammatory disease semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:exactMatch NANDO:2100157 Diabetes semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:exactMatch NANDO:2100158 Diabetes semapv:MappingInversion +MONDO:0019052 inborn errors of metabolism skos:exactMatch NANDO:2100159 Inborn errors of metabolism semapv:MappingInversion +MONDO:0037871 amino acid metabolism disease skos:exactMatch NANDO:2100160 Disorder of amino acid metabolism semapv:MappingInversion +MONDO:0045022 disorder of organic acid metabolism skos:exactMatch NANDO:2100161 Disorder of organic acid metabolism semapv:MappingInversion +MONDO:0037858 inherited fatty acid metabolism disorder skos:exactMatch NANDO:2100162 Disorder of fatty-acid metabolism semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:exactMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0019214 inborn carbohydrate metabolic disorder skos:exactMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0037792 carbohydrate metabolism disease skos:exactMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:exactMatch NANDO:2100165 Lysosomal storage disease semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:exactMatch NANDO:2100166 Peroxisomal disorder semapv:MappingInversion +MONDO:0003900 connective tissue disorder skos:exactMatch NANDO:2100172 Connective tissue disorder semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NANDO:2100174 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:exactMatch NANDO:2100175 Blood disease semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:exactMatch NANDO:2100176 Megaloblastic anemia semapv:MappingInversion +MONDO:0001705 pure red-cell aplasia skos:exactMatch NANDO:2100177 Pure red cell aplasia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NANDO:2100178 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:exactMatch NANDO:2100179 Sideroblastic anemia semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:exactMatch NANDO:2100180 Congenital atransferrinemia semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch NANDO:2100181 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:2100182 Paroxysmal nocturnal haemoglobinuria semapv:MappingInversion +MONDO:0003689 familial hemolytic anemia skos:exactMatch NANDO:2100183 Hereditary hemolytic anemia semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:exactMatch NANDO:2100186 Polycythemia vera semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:exactMatch NANDO:2100187 Familial polycythemia semapv:MappingInversion +MONDO:0043768 thrombocytopenic purpura skos:exactMatch NANDO:2100188 Thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NANDO:2100189 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch NANDO:2100192 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:2100193 May-Hegglin anomaly semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:exactMatch NANDO:2100194 Essential thrombocythemia semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NANDO:2100197 Protein C deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:exactMatch NANDO:2100198 Protein S deficiency semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:exactMatch NANDO:2100200 Myelofibrosis semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:exactMatch NANDO:2100201 Aplastic anemia semapv:MappingInversion +MONDO:0005046 immune system disorder skos:exactMatch NANDO:2100202 Immune system disease semapv:MappingInversion +MONDO:0015131 combined immunodeficiency skos:exactMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:exactMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0021094 immunodeficiency disease skos:exactMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0012268 AIDS skos:exactMatch NANDO:2100212 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:exactMatch NANDO:2100213 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0019056 neuromuscular disease skos:exactMatch NANDO:2100214 Neuromuscular disease semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:exactMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:exactMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NANDO:2100216 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0016054 cerebral malformation skos:exactMatch NANDO:2100217 Brain malformation semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch NANDO:2100218 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:exactMatch NANDO:2100219 Rett syndrome semapv:MappingInversion +MONDO:0042983 neurocutaneous syndrome skos:exactMatch NANDO:2100220 Neurocutaneous syndrome semapv:MappingInversion +MONDO:0015333 progeroid syndrome skos:exactMatch NANDO:2100221 Progeroid syndromes semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NANDO:2100223 ATR-X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:exactMatch NANDO:2100224 Fragile X syndrome semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch NANDO:2100226 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0015469 craniosynostosis skos:exactMatch NANDO:2100227 Craniosynostosis semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:exactMatch NANDO:2100228 Moyamoya disease semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch NANDO:2100229 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:exactMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0019079 proximal spinal muscular atrophy skos:exactMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:exactMatch NANDO:2100233 Muscular dystrophy semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:exactMatch NANDO:2100234 Congenital myopathy semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NANDO:2100235 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch NANDO:2100237 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:exactMatch NANDO:2100238 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:2100239 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NANDO:2100240 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch NANDO:2100241 Neurodegeneration with brain iron accumulation semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch NANDO:2100242 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch NANDO:2100244 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:2100245 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NANDO:2100246 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:exactMatch NANDO:2100248 Autoimmune encephalitis semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:exactMatch NANDO:2100250 Multiple sclerosis semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:exactMatch NANDO:2100252 Myasthenia gravis semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:exactMatch NANDO:2100255 Microvillus inclusion disease semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:exactMatch NANDO:2100256 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0000147 polyposis skos:exactMatch NANDO:2100257 Polyposis semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:exactMatch NANDO:2100258 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0005265 inflammatory bowel disease skos:exactMatch NANDO:2100259 Inflammatory bowel disease semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:exactMatch NANDO:2100264 Autoimmune hepatitis semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:exactMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch NANDO:2100267 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:exactMatch NANDO:2100268 Liver cirrhosis semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch NANDO:2100272 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:exactMatch NANDO:2100274 Short bowel syndrome semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:exactMatch NANDO:2100279 Chromosome abnormality semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:exactMatch NANDO:2100280 Chromosome abnormality semapv:MappingInversion +MONDO:0005093 skin disorder skos:exactMatch NANDO:2100281 Skin disease semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:exactMatch NANDO:2100283 Congenital ichthyosis semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:exactMatch NANDO:2100284 Epidermolysis bullosa semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:exactMatch NANDO:2100285 Pustular psoriasis semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:exactMatch NANDO:2100286 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:2100287 von Recklinghausen's disease semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:exactMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NANDO:2100290 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0005381 bone disorder skos:exactMatch NANDO:2100291 Bone disease semapv:MappingInversion +MONDO:0005381 bone disorder skos:exactMatch NANDO:2100293 Bone disease semapv:MappingInversion +MONDO:0005385 vascular disorder skos:exactMatch NANDO:2100294 Vascular disease semapv:MappingInversion +MONDO:0024291 vascular malformation skos:exactMatch NANDO:2100295 Vascular malformation semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NANDO:2100296 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch NANDO:2100297 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch NANDO:2200001 B-cell precursor lymphoblastic leukemia semapv:MappingInversion +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch NANDO:2200002 Mature B-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch NANDO:2200003 T-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch NANDO:2200004 Acute myeloid leukemia with minimal differentiation semapv:MappingInversion +MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch NANDO:2200005 Acute myeloid leukemia without maturation semapv:MappingInversion +MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch NANDO:2200006 Acute myeloid leukemia with maturation semapv:MappingInversion +MONDO:0012883 acute promyelocytic leukemia skos:exactMatch NANDO:2200007 Acute promyelocytic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:exactMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:exactMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:exactMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:exactMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0017858 acute erythroid leukemia skos:exactMatch NANDO:2200010 Acute erythremia semapv:MappingInversion +MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch NANDO:2200011 Acute megakaryoblastic leukemia semapv:MappingInversion +MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch NANDO:2200012 NK cell leukemia semapv:MappingInversion +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch NANDO:2200013 Chronic myeloid leukemia semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch NANDO:2200015 Juvenile myelomonocytic leukemia semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0020321 acute undifferentiated leukemia skos:exactMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0020743 mixed phenotype acute leukemia skos:exactMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:exactMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:exactMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0015759 B-cell non-Hodgkin lymphoma skos:exactMatch NANDO:2200020 Mature B-cell lymphoma semapv:MappingInversion +MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch NANDO:2200021 Anaplastic large cell lymphoma semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch NANDO:2200022 Precursor B lymphoblastic lymphoma semapv:MappingInversion +MONDO:0044917 T-lymphoblastic lymphoma skos:exactMatch NANDO:2200023 Precursor T lymphoblastic lymphoma semapv:MappingInversion +MONDO:0004952 Hodgkins lymphoma skos:exactMatch NANDO:2200024 Hodgkin lymphoma semapv:MappingInversion +MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type semapv:MappingInversion +MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:exactMatch NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified semapv:MappingInversion +MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch NANDO:2200029 Angioimmunoblastic T-cell lymphoma semapv:MappingInversion +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma semapv:MappingInversion +MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:exactMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:exactMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0015540 hemophagocytic syndrome skos:exactMatch NANDO:2200032 Hemophagocytic lymphohistiocytosis semapv:MappingInversion +MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch NANDO:2200034 Follicular dendritic cell sarcoma semapv:MappingInversion +MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch NANDO:2200035 Interdigitating dendritic cell sarcoma semapv:MappingInversion +MONDO:0019480 Langerhans cell sarcoma skos:exactMatch NANDO:2200036 Langerhans cell sarcoma semapv:MappingInversion +MONDO:0015534 juvenile xanthogranuloma skos:exactMatch NANDO:2200037 Juvenile xanthogranuloma semapv:MappingInversion +MONDO:0018153 Erdheim-Chester disease skos:exactMatch NANDO:2200038 Erdheim-Chester disease semapv:MappingInversion +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0044354 obsolete Rosai-Dorfman disease skos:exactMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0005072 neuroblastoma skos:exactMatch NANDO:2200040 Neuroblastoma semapv:MappingInversion +MONDO:0005035 ganglioneuroblastoma skos:exactMatch NANDO:2200041 Ganglioneuroblastoma semapv:MappingInversion +MONDO:0008380 retinoblastoma skos:exactMatch NANDO:2200042 Retinoblastoma semapv:MappingInversion +MONDO:0019004 kidney Wilms tumor skos:exactMatch NANDO:2200043 Wilms tumour semapv:MappingInversion +MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch NANDO:2200044 Clear cell sarcoma of the kidney semapv:MappingInversion +MONDO:0005086 renal cell carcinoma skos:exactMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0005549 renal cell adenocarcinoma skos:exactMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0018666 hepatoblastoma skos:exactMatch NANDO:2200046 Hepatoblastoma semapv:MappingInversion +MONDO:0007256 hepatocellular carcinoma skos:exactMatch NANDO:2200047 Hepatocellular carcinoma semapv:MappingInversion +MONDO:0002623 pediatric osteosarcoma skos:exactMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0009807 osteosarcoma skos:exactMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0008145 Ollier disease skos:exactMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0008977 chondrosarcoma skos:exactMatch NANDO:2200050 Chondrosarcoma semapv:MappingInversion +MONDO:0004997 chondroblastoma skos:exactMatch NANDO:2200051 Chondroblastoma semapv:MappingInversion +MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch NANDO:2200052 Malignancy in giant cell tumour of bone semapv:MappingInversion +MONDO:0012817 Ewing sarcoma skos:exactMatch NANDO:2200053 Ewing's sarcoma semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch NANDO:2200054 Primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch NANDO:2200055 Peripheral primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0005212 rhabdomyosarcoma skos:exactMatch NANDO:2200056 Rhabdomyosarcoma semapv:MappingInversion +MONDO:0002728 rhabdoid tumor skos:exactMatch NANDO:2200057 Malignant rhabdoid tumour semapv:MappingInversion +MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch NANDO:2200058 Undifferentiated sarcoma semapv:MappingInversion +MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch NANDO:2200059 Desmoplastic small round cell tumors semapv:MappingInversion +MONDO:0002676 adult fibrosarcoma skos:exactMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0002678 pediatric fibrosarcoma skos:exactMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0005164 fibrosarcoma skos:exactMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0010434 synovial sarcoma skos:exactMatch NANDO:2200061 Synovial sarcoma semapv:MappingInversion +MONDO:0002926 clear cell sarcoma skos:exactMatch NANDO:2200062 Clear cell sarcoma semapv:MappingInversion +MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NANDO:2200063 Alveolar soft part sarcoma semapv:MappingInversion +MONDO:0005058 leiomyosarcoma skos:exactMatch NANDO:2200064 Leiomyosarcoma semapv:MappingInversion +MONDO:0003585 adult liposarcoma skos:exactMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003587 pediatric liposarcoma skos:exactMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0005060 liposarcoma skos:exactMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003002 dysgerminoma skos:exactMatch NANDO:2200066 Dysgerminoma semapv:MappingInversion +MONDO:0005440 embryonal carcinoma skos:exactMatch NANDO:2200067 Embryonal carcinoma semapv:MappingInversion +MONDO:0015863 polyembryoma skos:exactMatch NANDO:2200068 Polyembryoma semapv:MappingInversion +MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0005744 yolk sac tumor skos:exactMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0005207 choriocarcinoma skos:exactMatch NANDO:2200070 Choriocarcinoma semapv:MappingInversion +MONDO:0015864 mixed germ cell tumor skos:exactMatch NANDO:2200071 Mixed germ cell tumour semapv:MappingInversion +MONDO:0006055 sex cord-stromal tumor skos:exactMatch NANDO:2200072 Sex-cord stromal tumour semapv:MappingInversion +MONDO:0006639 adrenal cortex carcinoma skos:exactMatch NANDO:2200073 Adrenocortical carcinoma semapv:MappingInversion +MONDO:0002108 thyroid cancer skos:exactMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0015075 thyroid gland carcinoma skos:exactMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0000521 salivary gland carcinoma skos:exactMatch NANDO:2200076 Salivary grand carcinoma semapv:MappingInversion +MONDO:0005105 melanoma skos:exactMatch NANDO:2200077 Malignant melanoma semapv:MappingInversion +MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch NANDO:2200078 Pheochromocytoma semapv:MappingInversion +MONDO:0006451 thymic carcinoma skos:exactMatch NANDO:2200079 Malignant thymoma semapv:MappingInversion +MONDO:0011014 pleuropulmonary blastoma skos:exactMatch NANDO:2200080 Pleuropulmonaryblastoma semapv:MappingInversion +MONDO:0002807 bronchial neoplasm skos:exactMatch NANDO:2200081 Bronchial tumour semapv:MappingInversion +MONDO:0019035 pancreatoblastoma skos:exactMatch NANDO:2200082 Pancreatoblastoma semapv:MappingInversion +MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0016691 pilocytic astrocytoma skos:exactMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0016686 diffuse astrocytoma skos:exactMatch NANDO:2200085 Diffuse astrocytoma semapv:MappingInversion +MONDO:0016684 anaplastic astrocytoma skos:exactMatch NANDO:2200086 Anaplastic astrocytoma semapv:MappingInversion +MONDO:0018177 glioblastoma skos:exactMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0020690 adult glioblastoma skos:exactMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0016698 ependymoma skos:exactMatch NANDO:2200088 Ependymoma semapv:MappingInversion +MONDO:0002540 childhood oligodendroglioma skos:exactMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002543 adult oligodendroglioma skos:exactMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0016695 oligodendroglioma skos:exactMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002794 adult medulloblastoma skos:exactMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0002797 childhood medulloblastoma skos:exactMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0007959 medulloblastoma skos:exactMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0018907 craniopharyngioma skos:exactMatch NANDO:2200091 Craniopharyngioma semapv:MappingInversion +MONDO:0016723 pineocytoma skos:exactMatch NANDO:2200092 Pineocytoma semapv:MappingInversion +MONDO:0009837 choroid plexus papilloma skos:exactMatch NANDO:2200093 Choroid plexus papilloma semapv:MappingInversion +MONDO:0003057 pediatric meningioma skos:exactMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0016642 meningioma skos:exactMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0006373 pituitary gland adenoma skos:exactMatch NANDO:2200095 Pituitary adenoma semapv:MappingInversion +MONDO:0016733 ganglioglioma skos:exactMatch NANDO:2200096 Ganglioglioma semapv:MappingInversion +MONDO:0016730 gangliocytoma skos:exactMatch NANDO:2200097 Gangliocytoma semapv:MappingInversion +MONDO:0008978 chordoma skos:exactMatch NANDO:2200098 Chordoma semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch NANDO:2200101 Atypical teratoid, rhabdoid tumour semapv:MappingInversion +MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch NANDO:2200102 Malignant neurinoma semapv:MappingInversion +MONDO:0002546 schwannoma skos:exactMatch NANDO:2200103 Neurinoma semapv:MappingInversion +MONDO:0002718 central nervous system teratoma skos:exactMatch NANDO:2200104 Teratoma of the central nervous system semapv:MappingInversion +MONDO:0003517 mature teratoma skos:exactMatch NANDO:2200105 Mature teratoma semapv:MappingInversion +MONDO:0024746 immature teratoma skos:exactMatch NANDO:2200106 Immature teratoma semapv:MappingInversion +MONDO:0006444 teratoma with malignant transformation skos:exactMatch NANDO:2200107 Teratoma with malignant transformation semapv:MappingInversion +MONDO:0004218 childhood germ cell brain tumor skos:exactMatch NANDO:2200108 Intracranial germ cell tumour semapv:MappingInversion +MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch NANDO:2200110 Congenital nephrotic syndrome of the Finnish type semapv:MappingInversion +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis skos:exactMatch NANDO:2200111 Diffuse mesangial sclerosis semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:exactMatch NANDO:2200112 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:exactMatch NANDO:2200113 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:exactMatch NANDO:2200114 Membranous nephropathy semapv:MappingInversion +MONDO:0008682 Denys-Drash syndrome skos:exactMatch NANDO:2200116 Denys-Drash syndrome semapv:MappingInversion +MONDO:0012184 Pierson syndrome skos:exactMatch NANDO:2200117 Pierson syndrome semapv:MappingInversion +MONDO:0020022 central nervous system malformation skos:exactMatch NANDO:2200118 Central nervous system malformation syndrome semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch NANDO:2200119 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NANDO:2200120 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:exactMatch NANDO:2200121 IgA nephropathy semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch NANDO:2200122 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:exactMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NANDO:2200125 Goodpasture syndrome semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:exactMatch NANDO:2200126 Alport syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:2200127 Epstein syndrome semapv:MappingInversion +MONDO:0005556 lupus nephritis skos:exactMatch NANDO:2200128 Lupus nephritis semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:2200131 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:exactMatch NANDO:2200132 Nail-patella syndrome semapv:MappingInversion +MONDO:0007671 fibronectin glomerulopathy skos:exactMatch NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy semapv:MappingInversion +MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch NANDO:2200134 Lipoprotein glomerulopathy semapv:MappingInversion +MONDO:0001085 interstitial nephritis skos:exactMatch NANDO:2200136 Tubulointerstitial nephritis semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:exactMatch NANDO:2200137 Chronic pyelonephritis semapv:MappingInversion +MONDO:0007099 familial visceral amyloidosis skos:exactMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0019065 amyloidosis skos:exactMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch NANDO:2200139 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:exactMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:exactMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0001105 renal hypertension skos:exactMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:exactMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:exactMatch NANDO:2200144 Renal tubular acidosis semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:exactMatch NANDO:2200145 Gitelman syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:exactMatch NANDO:2200146 Bartter syndrome semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:exactMatch NANDO:2200152 Polycystic kidney disease semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch NANDO:2200153 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch NANDO:2200154 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0019637 renal hypoplasia skos:exactMatch NANDO:2200155 Hypoplastic kidney semapv:MappingInversion +MONDO:0018470 renal agenesis skos:exactMatch NANDO:2200156 Renal aplasia semapv:MappingInversion +MONDO:0001558 Potter sequence skos:exactMatch NANDO:2200157 Potter syndrome semapv:MappingInversion +MONDO:0015988 multicystic dysplastic kidney skos:exactMatch NANDO:2200158 Multicystic dysplastic kidney semapv:MappingInversion +MONDO:0016407 oligomeganephronia skos:exactMatch NANDO:2200159 Oligomeganephronia semapv:MappingInversion +MONDO:0019638 renal dysplasia skos:exactMatch NANDO:2200161 Renal dysplasia semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:exactMatch NANDO:2200170 Medullary cystic kidney semapv:MappingInversion +MONDO:0019983 multiloculated renal cyst skos:exactMatch NANDO:2200171 Multilocular cysts of the kidney semapv:MappingInversion +MONDO:0002473 cystic kidney disease skos:exactMatch NANDO:2200172 Simple renal cyst semapv:MappingInversion +MONDO:0015268 medullary sponge kidney skos:exactMatch NANDO:2200173 Medullary sponge kidney semapv:MappingInversion +MONDO:0007741 congenital hydronephrosis skos:exactMatch NANDO:2200176 Ureteropelvic junction obstruction semapv:MappingInversion +MONDO:0019639 congenital megacalycosis skos:exactMatch NANDO:2200177 Megacalycosis semapv:MappingInversion +MONDO:0003330 urinary tract obstruction skos:exactMatch NANDO:2200178 Obstructive uropathy semapv:MappingInversion +MONDO:0006007 vesicoureteral reflux skos:exactMatch NANDO:2200179 Vesicoureteral reflux semapv:MappingInversion +MONDO:0008628 ureterocele skos:exactMatch NANDO:2200183 Ureteroceles semapv:MappingInversion +MONDO:0018960 congenital primary megaureter skos:exactMatch NANDO:2200184 Megaureter semapv:MappingInversion +MONDO:0007032 prune belly syndrome skos:exactMatch NANDO:2200185 Prune belly syndrome semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch NANDO:2200187 Fanconi syndrome semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch NANDO:2200188 Lowe syndrome semapv:MappingInversion +MONDO:0007879 larynx atresia skos:exactMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:exactMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0002568 tracheal stenosis skos:exactMatch NANDO:2200194 Tracheal stenosis semapv:MappingInversion +MONDO:0019804 tracheomalacia skos:exactMatch NANDO:2200195 Tracheomalacia semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:exactMatch NANDO:2200197 Bronchial asthma semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:exactMatch NANDO:2200198 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch NANDO:2200199 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch NANDO:2200200 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch NANDO:2200202 Pulmonary alveolar microlithiasis semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NANDO:2200203 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NANDO:2200204 Kartagener syndrome semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:2200205 Cystic fibrosis semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:exactMatch NANDO:2200206 Bronchiectasis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:exactMatch NANDO:2200207 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NANDO:2200209 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NANDO:2200210 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:exactMatch NANDO:2200212 Sick sinus syndrome semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch NANDO:2200213 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0000468 third-degree atrioventricular block skos:exactMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0009326 congenital heart block skos:exactMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:exactMatch NANDO:2200215 Bundle branch block semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch NANDO:2200216 Polymorphic ventricular premature beat semapv:MappingInversion +MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch NANDO:2200217 Supraventricular tachycardia due to WPW syndrome semapv:MappingInversion +MONDO:0005310 atrial flutter skos:exactMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0005479 atrial tachycardia skos:exactMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia semapv:MappingInversion +MONDO:0005310 atrial flutter skos:exactMatch NANDO:2200225 Atrial flutter semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:exactMatch NANDO:2200226 Atrial fibrillation semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:exactMatch NANDO:2200227 Ventricular fibrillation semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:exactMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0019171 familial long QT syndrome skos:exactMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:2200229 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0018901 left ventricular noncompaction skos:exactMatch NANDO:2200231 Non-compaction of the ventricle semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:exactMatch NANDO:2200232 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:2200233 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0006779 heart aneurysm skos:exactMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0015677 cardiac diverticulum skos:exactMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:exactMatch NANDO:2200235 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:exactMatch NANDO:2200236 Cardiac tumor semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:exactMatch NANDO:2200239 Constrictive pericarditis semapv:MappingInversion +MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery semapv:MappingInversion +MONDO:0006715 coronary stenosis skos:exactMatch NANDO:2200246 Stenosis or atresia of coronary artery semapv:MappingInversion +MONDO:0005068 myocardial infarction skos:exactMatch NANDO:2200248 Myocardial infarction semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NANDO:2200249 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0015451 univentricular heart skos:exactMatch NANDO:2200250 Single ventricle semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:2200251 Tricuspid atresia semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch NANDO:2200252 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch NANDO:2200253 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:exactMatch NANDO:2200254 Tetralogy of Fallot semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:exactMatch NANDO:2200256 Double outlet right ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:exactMatch NANDO:2200257 Double-outlet left ventricle semapv:MappingInversion +MONDO:0000153 transposition of the great arteries skos:exactMatch NANDO:2200258 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:2200259 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:exactMatch NANDO:2200260 Ebstein's anomaly semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:exactMatch NANDO:2200261 Truncus arteriosus communis semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:exactMatch NANDO:2200262 Aorto-pulmonary window semapv:MappingInversion +MONDO:0015450 triatrial heart skos:exactMatch NANDO:2200263 Cor triatriatum semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:exactMatch NANDO:2200264 Patent ductus arteriosus semapv:MappingInversion +MONDO:0020434 atrial septal defect, ostium secundum type skos:exactMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020439 patent foramen ovale skos:exactMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch NANDO:2200267 Atrial septal defect, sinus venosus type semapv:MappingInversion +MONDO:0015275 partial atrioventricular canal skos:exactMatch NANDO:2200268 Incomplete atrioventricular septal defect semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:exactMatch NANDO:2200269 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:exactMatch NANDO:2200270 Ventricular septal defect semapv:MappingInversion +MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch NANDO:2200271 Total anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch NANDO:2200272 Partial anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch NANDO:2200273 Pulmonary venous obstruction semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:exactMatch NANDO:2200274 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0016581 conotruncal heart malformations skos:exactMatch NANDO:2200275 Double-chambered right ventricle semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch NANDO:2200276 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NANDO:2200277 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0017870 supravalvular pulmonary stenosis skos:exactMatch NANDO:2200278 Supravalvular pulmonary stenosis semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:exactMatch NANDO:2200280 Absent pulmonary valve semapv:MappingInversion +MONDO:0020391 pulmonary artery coming from the aorta skos:exactMatch NANDO:2200281 Origin of pulmonary artery from ascending aorta semapv:MappingInversion +MONDO:0020007 absence of the pulmonary artery skos:exactMatch NANDO:2200282 Unilateral absence of a pulmonary artery semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:exactMatch NANDO:2200283 Coarctation of the aorta semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:exactMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0015446 atypical coarctation of aorta skos:exactMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NANDO:2200285 Supravalvular aortic stenosis semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:exactMatch NANDO:2200286 Williams syndrome semapv:MappingInversion +MONDO:0009010 aortic arch interruption skos:exactMatch NANDO:2200288 Interruption of aortic arch complex semapv:MappingInversion +MONDO:0020413 encircling double aortic arch skos:exactMatch NANDO:2200290 Double aortic arch disease semapv:MappingInversion +MONDO:0015197 aneurysm of sinus of Valsalva skos:exactMatch NANDO:2200293 Aneurysm of sinus valsalva semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:exactMatch NANDO:2200294 Aortic aneurysm semapv:MappingInversion +MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch NANDO:2200295 Pulmonary arteriovenous fistulae semapv:MappingInversion +MONDO:0016081 coronary arterial fistulas skos:exactMatch NANDO:2200296 Coronary artery fistula semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NANDO:2200298 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0001493 chronic pulmonary heart disease skos:exactMatch NANDO:2200299 Chronic cor pulmonale semapv:MappingInversion +MONDO:0005997 tricuspid valve stenosis skos:exactMatch NANDO:2200300 Tricuspid valve stenosis semapv:MappingInversion +MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NANDO:2200301 Tricuspid valve regurgitation semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:exactMatch NANDO:2200302 Mitral valve stenosis semapv:MappingInversion +MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch NANDO:2200303 Mitral regurgitation semapv:MappingInversion +MONDO:0006936 pulmonary valve stenosis skos:exactMatch NANDO:2200304 Pulmonary valve stenosis semapv:MappingInversion +MONDO:0001927 pulmonary valve insufficiency skos:exactMatch NANDO:2200305 Pulmonary valve regurgitation semapv:MappingInversion +MONDO:0042981 aortic valve stenosis skos:exactMatch NANDO:2200306 Aortic valve stenosis semapv:MappingInversion +MONDO:0005648 aortic valve insufficiency skos:exactMatch NANDO:2200307 Aortic valve regurgitation semapv:MappingInversion +MONDO:0020400 congenital supravalvular mitral ring skos:exactMatch NANDO:2200308 Supramitral ring semapv:MappingInversion +MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:exactMatch NANDO:2200312 Congenital hypopituitarism semapv:MappingInversion +MONDO:0019832 acquired pituitary hormone deficiency skos:exactMatch NANDO:2200313 Acquired hypopituitarism semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:exactMatch NANDO:2200314 Pituitary gigantism semapv:MappingInversion +MONDO:0019933 acromegaly skos:exactMatch NANDO:2200315 Acromegaly semapv:MappingInversion +MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch NANDO:2200320 IGF1 insensitivity semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch NANDO:2200321 Growth hormone insensitivity semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:exactMatch NANDO:2200322 Hyperprolactinemia semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:exactMatch NANDO:2200324 Central diabetes insipidus semapv:MappingInversion +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:exactMatch NANDO:2200325 Adipsic hypernatremia semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch NANDO:2200326 Nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0005364 Graves disease skos:exactMatch NANDO:2200328 Basedow disease semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:exactMatch NANDO:2200329 Hyperthyroidism semapv:MappingInversion +MONDO:0019854 thyroid ectopia skos:exactMatch NANDO:2200330 Ectoic thyroid semapv:MappingInversion +MONDO:0019855 athyreosis skos:exactMatch NANDO:2200331 Thyroid agenesis semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:exactMatch NANDO:2200332 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0018612 congenital hypothyroidism skos:exactMatch NANDO:2200333 Congenital hypothyroidism semapv:MappingInversion +MONDO:0007699 Hashimoto thyroiditis skos:exactMatch NANDO:2200335 Hashimoto disease semapv:MappingInversion +MONDO:0005624 atrophic thyroiditis skos:exactMatch NANDO:2200336 Atrophic thyroiditis semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:exactMatch NANDO:2200340 Central hypothyroidism semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:exactMatch NANDO:2200343 Hyperparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:exactMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch NANDO:2200346 Autoimmune polyendocrinopathy type 1 semapv:MappingInversion +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch NANDO:2200347 Autoimmune polyendocrinopathy type 2 semapv:MappingInversion +MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NANDO:2200348 Pseudopseudohypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NANDO:2200349 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch NANDO:2200350 Cushing disease semapv:MappingInversion +MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch NANDO:2200351 Ectopic ACTH syndrome semapv:MappingInversion +MONDO:0003924 adrenal cortex adenoma skos:exactMatch NANDO:2200352 Adrenal adenoma semapv:MappingInversion +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0014421 glucocorticoid resistance skos:exactMatch NANDO:2200358 Glucocorticoid resistance semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0001422 primary aldosteronism skos:exactMatch NANDO:2200361 Aldosteronism semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:exactMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:exactMatch NANDO:2200363 Liddle syndrome semapv:MappingInversion +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch NANDO:2200365 Aldosterone synthase deficiency semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:exactMatch NANDO:2200367 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch NANDO:2200368 Pseudohypoaldosteronism type I semapv:MappingInversion +MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch NANDO:2200369 Pseudohypoaldosteronism type II semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:2200370 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch NANDO:2200372 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch NANDO:2200373 17 alpha-hydroxylase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch NANDO:2200374 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NANDO:2200375 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:exactMatch NANDO:2200377 Gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0015791 peripheral precocious puberty skos:exactMatch NANDO:2200378 Non-gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0001946 obsolete hyperestrogenism skos:exactMatch NANDO:2200379 Hyperestrogenism semapv:MappingInversion +MONDO:0001324 obsolete hyperandrogenism skos:exactMatch NANDO:2200380 Hyperandrogenism semapv:MappingInversion +MONDO:0018800 Kallmann syndrome skos:exactMatch NANDO:2200381 Kallmann syndrome semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NANDO:2200382 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0005437 testicular dysgenesis syndrome skos:exactMatch NANDO:2200383 Testicular dysgenesis semapv:MappingInversion +MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch NANDO:2200384 Ovarian dysgenesis semapv:MappingInversion +MONDO:0006823 Klinefelter syndrome skos:exactMatch NANDO:2200386 Klinefelter syndrome semapv:MappingInversion +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch NANDO:2200387 Ovotesticular dsd semapv:MappingInversion +MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:exactMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch NANDO:2200389 5 alpha-reductase deficiency semapv:MappingInversion +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0019154 androgen insensitivity syndrome skos:exactMatch NANDO:2200391 Androgen insensitivity syndrome semapv:MappingInversion +MONDO:0020040 46,XY disorder of sex development skos:exactMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0019960 VIPoma skos:exactMatch NANDO:2200394 Vipoma semapv:MappingInversion +MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch NANDO:2200395 Gastrinoma semapv:MappingInversion +MONDO:0005369 carcinoid tumor skos:exactMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0006689 obsolete carcinoid syndrome skos:exactMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0019959 glucagonoma skos:exactMatch NANDO:2200397 Glucagonoma semapv:MappingInversion +MONDO:0024677 pancreatic insulinoma skos:exactMatch NANDO:2200398 Insulinoma semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:exactMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:exactMatch NANDO:2200401 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:2200402 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:2200403 Primary hypophosphatemic rickets semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:exactMatch NANDO:2200404 Lipodystrophy semapv:MappingInversion +MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch NANDO:2200405 Multiple endocrine neoplasia type 1 semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:exactMatch NANDO:2200408 Von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:exactMatch NANDO:2200409 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0019499 Turner syndrome skos:exactMatch NANDO:2200410 Turner syndrome semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:exactMatch NANDO:2200411 Prader-Willi syndrome semapv:MappingInversion +MONDO:0018919 McCune-Albright syndrome skos:exactMatch NANDO:2200412 McCune-Albright syndrome semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:exactMatch NANDO:2200413 Noonan syndrome semapv:MappingInversion +MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch NANDO:2200414 Bardet-Biedl syndrome semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NANDO:2200415 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:exactMatch NANDO:2200416 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0008054 juvenile dermatomyositis skos:exactMatch NANDO:2200418 Juvenile dermatomyositis semapv:MappingInversion +MONDO:0019734 juvenile polymyositis skos:exactMatch NANDO:2200419 Juvenile polymyositis semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:exactMatch NANDO:2200420 Sjogren's syndrome semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:exactMatch NANDO:2200421 Anti-phospholipid antibody syndrome semapv:MappingInversion +MONDO:0007191 Behcet disease skos:exactMatch NANDO:2200422 Behcet's disease semapv:MappingInversion +MONDO:0006656 aortitis skos:exactMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:exactMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NANDO:2200424 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:exactMatch NANDO:2200425 Polyangiitis nodosa semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:exactMatch NANDO:2200426 Microscopic polyangiitis semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch NANDO:2200427 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:exactMatch NANDO:2200428 Relapsing polychondritis semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:exactMatch NANDO:2200429 Systemic sclerosis semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:exactMatch NANDO:2200430 Mixed connective tissue disease semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:exactMatch NANDO:2200431 Familial Mediterranean fever semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch NANDO:2200432 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch NANDO:2200433 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:exactMatch NANDO:2200434 Blau syndrome, early onset sarcoidosis semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch NANDO:2200435 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0017708 mevalonate kinase deficiency skos:exactMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0004471 bacterial arthritis skos:exactMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0018824 pyoderma gangrenosum skos:exactMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch NANDO:2200438 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NANDO:2200441 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0011269 psoriasis 2 skos:exactMatch NANDO:2200443 CARD14 deficiency semapv:MappingInversion +MONDO:0007315 cherubism skos:exactMatch NANDO:2200444 Cherubism semapv:MappingInversion +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:exactMatch NANDO:2200446 IL10 deficiency semapv:MappingInversion +MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NANDO:2200447 IL-10RA deficiency semapv:MappingInversion +MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch NANDO:2200448 IL-10RB deficiency semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NANDO:2200450 Deficiency of the enzyme ADA2 semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch NANDO:2200451 PLCg2 deficiency semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:exactMatch NANDO:2200452 IL36RN deficiency semapv:MappingInversion +MONDO:0012316 Majeed syndrome skos:exactMatch NANDO:2200453 Majeed syndrome semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0018348 obsolete polyglucosan body myopathy type 1 skos:exactMatch NANDO:2200456 RBCK1 deficiency semapv:MappingInversion +MONDO:0011273 H syndrome skos:exactMatch NANDO:2200457 SLC29A3 deficiency semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:exactMatch NANDO:2200458 A20 haploinsufficiency semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch NANDO:2200459 NLRC4 mutation semapv:MappingInversion +MONDO:0005147 type 1 diabetes mellitus skos:exactMatch NANDO:2200460 Diabetes mellitus type 1 semapv:MappingInversion +MONDO:0005148 type 2 diabetes mellitus skos:exactMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch NANDO:2200462 Maturity-onset diabetes of the young semapv:MappingInversion +MONDO:0016391 neonatal diabetes mellitus skos:exactMatch NANDO:2200463 Neonatal diabetes mellitus semapv:MappingInversion +MONDO:0005827 lipoatrophic diabetes skos:exactMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:exactMatch NANDO:2200467 Phenylketonuria semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:exactMatch NANDO:2200468 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:exactMatch NANDO:2200469 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:exactMatch NANDO:2200470 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0023419 hyperprolinemia skos:exactMatch NANDO:2200471 Hyperprolinemia semapv:MappingInversion +MONDO:0008221 prolidase deficiency skos:exactMatch NANDO:2200472 Prolidase deficiency semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:exactMatch NANDO:2200473 Maple syrup urine disease semapv:MappingInversion +MONDO:0004737 homocystinuria skos:exactMatch NANDO:2200474 Homocystinuria semapv:MappingInversion +MONDO:0000351 disorder of methionine catabolism skos:exactMatch NANDO:2200475 Hypermethioninemia semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:exactMatch NANDO:2200476 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NANDO:2200477 N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch NANDO:2200478 Carbamoylphosphate synthetase deficiency semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch NANDO:2200479 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:exactMatch NANDO:2200480 Argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:exactMatch NANDO:2200481 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:exactMatch NANDO:2200482 Hyperargininemia semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:exactMatch NANDO:2200483 Citrin deficiency semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch NANDO:2200484 Hyperornithinemia semapv:MappingInversion +MONDO:0009393 ornithine translocase deficiency skos:exactMatch NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch NANDO:2200486 Gyrate atrophy of choroid and retina semapv:MappingInversion +MONDO:0009324 Hartnup disease skos:exactMatch NANDO:2200487 Hartnup disease semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:exactMatch NANDO:2200488 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009067 cystinuria skos:exactMatch NANDO:2200489 Cystinuria semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:exactMatch NANDO:2200491 Methylmalonic acidemia semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:exactMatch NANDO:2200492 Propionic acidemia semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch NANDO:2200493 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:exactMatch NANDO:2200494 Isovaleric acidemia semapv:MappingInversion +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch NANDO:2200496 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch NANDO:2200497 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:MappingInversion +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:exactMatch NANDO:2200500 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200501 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200502 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0002474 primary hyperoxaluria skos:exactMatch NANDO:2200503 Primary hyperoxaluria semapv:MappingInversion +MONDO:0008753 alkaptonuria skos:exactMatch NANDO:2200504 Alkaptonuria semapv:MappingInversion +MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch NANDO:2200505 Glycerol kinase deficiency semapv:MappingInversion +MONDO:0019218 inborn disorder of bile acid synthesis skos:exactMatch NANDO:2200506 Inborn errors of bile acid metabolism semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch NANDO:2200508 Organic cation transporter 2 deficiency semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch NANDO:2200509 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:2200510 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch NANDO:2200511 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NANDO:2200515 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch NANDO:2200518 Pyruvate dehydrogenase complex deficiency semapv:MappingInversion +MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch NANDO:2200519 Pyruvate carboxylase deficiency semapv:MappingInversion +MONDO:0011730 fumaric aciduria skos:exactMatch NANDO:2200520 Fumarase deficiency semapv:MappingInversion +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch NANDO:2200522 Mitochondrial respiratory chain disorders semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch NANDO:2200523 Mitochondrial DNA depletion syndrome semapv:MappingInversion +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch NANDO:2200524 Diseases due to mitochondrial DNA mutation semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:exactMatch NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:exactMatch NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:exactMatch NANDO:2200527 Leigh syndrome semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch NANDO:2200528 Diseases due to mitochondrial DNA deletion semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch NANDO:2200529 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0009249 hereditary fructose intolerance skos:exactMatch NANDO:2200531 Hereditary fructose intolerance semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:exactMatch NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009255 galactokinase deficiency skos:exactMatch NANDO:2200533 Galactokinase deficiency semapv:MappingInversion +MONDO:0009257 galactose epimerase deficiency skos:exactMatch NANDO:2200534 UDP-galactose-4-epimerase deficiency semapv:MappingInversion +MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch NANDO:2200535 Fructose-1,6-bisphosphatase deficiency semapv:MappingInversion +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:2200537 Glycogen synthase deficiency semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:exactMatch NANDO:2200538 Glycogen storage disease type I semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:2200539 Glycogen storage disease type III semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NANDO:2200540 Glycogen storage disease type IV semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:exactMatch NANDO:2200541 Glycogen storage disease type V semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:exactMatch NANDO:2200542 Glycogen storage disease type VI semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:exactMatch NANDO:2200543 Glycogen storage disease type VII semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch NANDO:2200544 Glycogen storage disease type IX semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NANDO:2200545 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch NANDO:2200547 Mucopolysaccharidosis type I semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch NANDO:2200548 Mucopolysaccharidosis type II semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch NANDO:2200549 Mucopolysaccharidosis type III semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch NANDO:2200550 Mucopolysaccharidosis type IV semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:2200551 Mucopolysaccharidosis type VI semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch NANDO:2200552 Mucopolysaccharidosis type VII semapv:MappingInversion +MONDO:0009254 fucosidosis skos:exactMatch NANDO:2200553 Fucosidosis semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:exactMatch NANDO:2200555 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0017734 sialidosis skos:exactMatch NANDO:2200556 Sialidosis semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:exactMatch NANDO:2200557 Galactosialidosis semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:exactMatch NANDO:2200558 GM1 Gangliosidosis semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:exactMatch NANDO:2200559 GM2 gangliosidosis semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:exactMatch NANDO:2200560 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0001982 Niemann-Pick disease skos:exactMatch NANDO:2200561 Niemann-Pick disease semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:exactMatch NANDO:2200562 Gaucher disease semapv:MappingInversion +MONDO:0010526 Fabry disease skos:exactMatch NANDO:2200563 Fabry disease semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:exactMatch NANDO:2200564 Krabbe disease semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:exactMatch NANDO:2200565 Farber disease semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:exactMatch NANDO:2200566 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:exactMatch NANDO:2200567 Mucolipidosis II semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch NANDO:2200568 Mucolipidosis III semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:exactMatch NANDO:2200569 Pompe disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:exactMatch NANDO:2200570 Acid lipase deficiency semapv:MappingInversion +MONDO:0016239 cystinosis skos:exactMatch NANDO:2200571 Cystinosis semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:exactMatch NANDO:2200572 Free Sialic Acid Storage Disease semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2200573 Neuronal ceroid lipofuscinoses semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NANDO:2200575 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:exactMatch NANDO:2200576 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:exactMatch NANDO:2200577 Refsum disease semapv:MappingInversion +MONDO:0010200 Wilson disease skos:exactMatch NANDO:2200579 Wilson disease semapv:MappingInversion +MONDO:0010651 Menkes disease skos:exactMatch NANDO:2200580 Menkes disease semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:exactMatch NANDO:2200581 Occipital horn syndrome semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:exactMatch NANDO:2200582 Aceruloplasminemia semapv:MappingInversion +MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch NANDO:2200583 Sulfite oxidase deficiency semapv:MappingInversion +MONDO:0008713 acrodermatitis enteropathica skos:exactMatch NANDO:2200584 Acrodermatitis enteropathica semapv:MappingInversion +MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch NANDO:2200587 Adenine phosphoribosyltransferase deficiency semapv:MappingInversion +MONDO:0000721 xanthinuria skos:exactMatch NANDO:2200588 Xanthinuria semapv:MappingInversion +MONDO:0009797 orotic aciduria skos:exactMatch NANDO:2200590 Orotic aciduria semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:exactMatch NANDO:2200592 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch NANDO:2200594 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NANDO:2200595 Tyrosine hydroxylase deficiency semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0009123 orthostatic hypotension 1 skos:exactMatch NANDO:2200597 Dopamine beta hydroxylase deficiency semapv:MappingInversion +MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency semapv:MappingInversion +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency semapv:MappingInversion +MONDO:0005439 familial hypercholesterolemia skos:exactMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0016525 familial hyperaldosteronism skos:exactMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0001336 familial hyperlipidemia skos:exactMatch NANDO:2200603 Familial combined hyperlipidemia semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:exactMatch NANDO:2200604 Abetalipoproteinemia semapv:MappingInversion +MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0100189 apolipoprotein A-I deficiency skos:exactMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch NANDO:2200607 Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0009530 lipoid proteinosis skos:exactMatch NANDO:2200608 Lipoid proteinosis semapv:MappingInversion +MONDO:0019142 inherited porphyria skos:exactMatch NANDO:2200610 Congenital porphyria semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NANDO:2200611 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:exactMatch NANDO:2200612 Megaloblastic anemia semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:exactMatch NANDO:2200613 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch NANDO:2200614 Congenital red cell aplasia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NANDO:2200615 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:exactMatch NANDO:2200616 Sideroblastic anemia semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:exactMatch NANDO:2200617 Congenital atransferrinemia semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:exactMatch NANDO:2200618 Cold agglutinin disease semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch NANDO:2200619 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:2200621 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0019350 hereditary spherocytosis skos:exactMatch NANDO:2200622 Hereditary spherocytosis semapv:MappingInversion +MONDO:0020102 hereditary stomatocytosis skos:exactMatch NANDO:2200623 Hereditary stomatocytosis semapv:MappingInversion +MONDO:0011382 sickle cell anemia skos:exactMatch NANDO:2200624 Sickle cell disease semapv:MappingInversion +MONDO:0020459 unstable hemoglobin disease skos:exactMatch NANDO:2200625 Unstable hemoglobin disease semapv:MappingInversion +MONDO:0000984 thalassemia skos:exactMatch NANDO:2200626 Thalassemia semapv:MappingInversion +MONDO:0005775 G6PD deficiency skos:exactMatch NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency semapv:MappingInversion +MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:MappingInversion +MONDO:0017319 hereditary elliptocytosis skos:exactMatch NANDO:2200630 Hereditary elliptocytosis semapv:MappingInversion +MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch NANDO:2200631 Hereditary pyropoikilocytosis semapv:MappingInversion +MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch NANDO:2200633 Stomatocytic xerocytosis semapv:MappingInversion +MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia semapv:MappingInversion +MONDO:0016242 hemoglobin C disease skos:exactMatch NANDO:2200635 Hemoglobin C disease semapv:MappingInversion +MONDO:0003664 hemolytic anemia skos:exactMatch NANDO:2200636 Hemolytic anemia semapv:MappingInversion +MONDO:0006795 hypersplenism skos:exactMatch NANDO:2200637 Hypersplenism semapv:MappingInversion +MONDO:0001243 disseminated intravascular coagulation skos:exactMatch NANDO:2200639 Disseminated intravascular coagulation semapv:MappingInversion +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:2200641 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:exactMatch NANDO:2200643 Polycythemia vera semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:exactMatch NANDO:2200644 Familial polycythemia semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch NANDO:2200645 Immune thrombocytopenic purpura semapv:MappingInversion +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:exactMatch NANDO:2200647 Neonatal alloimmune thrombocytopenia semapv:MappingInversion +MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch NANDO:2200648 Heparin-induced thrombocytopenia semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NANDO:2200649 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:exactMatch NANDO:2200651 Congenital amegakaryocytic thrombocytopenia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:exactMatch NANDO:2200652 Fanconi anemia semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch NANDO:2200653 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:2200654 May-Hegglin anomaly semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:exactMatch NANDO:2200655 Essential thrombocythemia semapv:MappingInversion +MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch NANDO:2200656 Bernard-Soulier syndrome semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:exactMatch NANDO:2200657 Thrombasthenia semapv:MappingInversion +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis semapv:MappingInversion +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch NANDO:2200661 Thrombocytopenia with absent radii semapv:MappingInversion +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NANDO:2200662 Familial platelet disorder with propensity to myeloid. semapv:MappingInversion +MONDO:0008555 thrombocytopenia 2 skos:exactMatch NANDO:2200663 Autosomal dominant thrombocytopenia 2 semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:exactMatch NANDO:2200664 ITGA2B/ITGB3 mutations semapv:MappingInversion +MONDO:0014078 platelet-type bleeding disorder 15 skos:exactMatch NANDO:2200665 ACTN1 mutations semapv:MappingInversion +MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related skos:exactMatch NANDO:2200667 β-1 tubulin disorders semapv:MappingInversion +MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch NANDO:2200668 Platelet-type von Willebrand disease semapv:MappingInversion +MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch NANDO:2200669 ADP receptor deficiencies semapv:MappingInversion +MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch NANDO:2200670 Abnormalities in platelet collagen receptors semapv:MappingInversion +MONDO:0009885 Scott syndrome skos:exactMatch NANDO:2200671 Scott syndrome semapv:MappingInversion +MONDO:0008737 congenital afibrinogenemia skos:exactMatch NANDO:2200672 Afibrinogenemia semapv:MappingInversion +MONDO:0013361 congenital prothrombin deficiency skos:exactMatch NANDO:2200673 Hypoprothrombinemia semapv:MappingInversion +MONDO:0020586 factor V deficiency skos:exactMatch NANDO:2200674 Factor V deficiency semapv:MappingInversion +MONDO:0002244 factor VII deficiency skos:exactMatch NANDO:2200675 Factor VII deficiency semapv:MappingInversion +MONDO:0010602 hemophilia A skos:exactMatch NANDO:2200676 Hemophilia A semapv:MappingInversion +MONDO:0010604 hemophilia B skos:exactMatch NANDO:2200677 Hemophilia B semapv:MappingInversion +MONDO:0002247 factor X deficiency skos:exactMatch NANDO:2200678 Factor X deficiency semapv:MappingInversion +MONDO:0020587 factor XI deficiency skos:exactMatch NANDO:2200679 Factor XI deficiency semapv:MappingInversion +MONDO:0009315 congenital factor XII deficiency skos:exactMatch NANDO:2200680 Factor XII deficiency semapv:MappingInversion +MONDO:0002241 factor XIII deficiency skos:exactMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0018029 congenital factor XIII deficiency skos:exactMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch NANDO:2200682 Von Willebrand disease semapv:MappingInversion +MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0044744 prekallikrein deficiency skos:exactMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch NANDO:2200685 High molecular weight kininogen deficiency semapv:MappingInversion +MONDO:0018175 combined deficiency of factor V and factor VIII skos:exactMatch NANDO:2200686 Combined deficiency of coagulation factors V and VIII semapv:MappingInversion +MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch NANDO:2200687 Alpha-2-plasmin inhibitor deficiency semapv:MappingInversion +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NANDO:2200689 Protein C deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:exactMatch NANDO:2200690 Protein S deficiency semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:exactMatch NANDO:2200692 Myelofibrosis semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:exactMatch NANDO:2200693 Aplastic anemia semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch NANDO:2200694 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:exactMatch NANDO:2200695 Reticular dysgenesis semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch NANDO:2200696 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:exactMatch NANDO:2200697 Omenn syndrome semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NANDO:2200698 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch NANDO:2200699 CD8 deficiency semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch NANDO:2200700 ZAP-70 deficiency semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:exactMatch NANDO:2200701 MHC class I deficiency semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:exactMatch NANDO:2200702 MHC class II deficiency semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch NANDO:2200704 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:exactMatch NANDO:2200705 Ataxia telangiectasia semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch NANDO:2200706 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:exactMatch NANDO:2200707 Bloom syndrome semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch NANDO:2200708 ICF syndrome semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:exactMatch NANDO:2200710 RIDDLE syndrome semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch NANDO:2200711 Schimke syndrome semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:exactMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:exactMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:exactMatch NANDO:2200713 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:exactMatch NANDO:2200715 Dyskeratosis congenita semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch NANDO:2200716 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:exactMatch NANDO:2200717 Common variable immunodeficiency semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:exactMatch NANDO:2200718 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch NANDO:2200719 Isolated IgG subclass deficiency semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:exactMatch NANDO:2200720 Selective IgA deficiency semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NANDO:2200724 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch NANDO:2200725 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch NANDO:2200726 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch NANDO:2200728 Perforin deficiency semapv:MappingInversion +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch NANDO:2200729 UNC13D/Munc13-4 deficiency semapv:MappingInversion +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch NANDO:2200730 Syntaxin 11 deficiency semapv:MappingInversion +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch NANDO:2200731 STXBP2/Munc18-2 deficiency semapv:MappingInversion +MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch NANDO:2200732 Griscelli syndrome type 2 semapv:MappingInversion +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch NANDO:2200733 Hermansky-Pudlak syndrome type 2 semapv:MappingInversion +MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch NANDO:2200734 IL-2-inducible T-cell kinase deficiency semapv:MappingInversion +MONDO:0016536 autosomal recessive lymphoproliferative disease skos:exactMatch NANDO:2200735 CD27 deficiency semapv:MappingInversion +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:MappingInversion +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch NANDO:2200737 STAT5b deficiency semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy semapv:MappingInversion +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:MappingInversion +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch NANDO:2200740 Caspase-8 deficiency semapv:MappingInversion +MONDO:0013408 FADD-related immunodeficiency skos:exactMatch NANDO:2200741 Fas-associated death domain protein deficiency semapv:MappingInversion +MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 skos:exactMatch NANDO:2200743 PKC-δ deficiency semapv:MappingInversion +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:exactMatch NANDO:2200745 Severe congenital neutropenia semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:exactMatch NANDO:2200746 Cyclic neutropenia semapv:MappingInversion +MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome semapv:MappingInversion +MONDO:0008999 Cohen syndrome skos:exactMatch NANDO:2200750 Cohen syndrome semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:exactMatch NANDO:2200751 Barth syndrome semapv:MappingInversion +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch NANDO:2200752 P14 deficiency semapv:MappingInversion +MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch NANDO:2200753 X linked severe congenital neutropenia semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:exactMatch NANDO:2200754 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch NANDO:2200755 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch NANDO:2200756 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:exactMatch NANDO:2200757 Chronic granulomatous disease semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:exactMatch NANDO:2200758 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch NANDO:2200759 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:exactMatch NANDO:2200762 IRAK4 deficiency semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch NANDO:2200763 MyD88 deficiency semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch NANDO:2200764 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch NANDO:2200766 HOIL-1 deficiency semapv:MappingInversion +MONDO:0008674 obsolete WHIM syndrome skos:exactMatch NANDO:2200767 WHIM syndrome semapv:MappingInversion +MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch NANDO:2200768 Epidermodysplasia verruciformis semapv:MappingInversion +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch NANDO:2200770 STAT2 deficiency semapv:MappingInversion +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch NANDO:2200771 MCM4 mutation semapv:MappingInversion +MONDO:0012521 herpes simplex encephalitis skos:exactMatch NANDO:2200772 Herpes simplex encephalitis semapv:MappingInversion +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch NANDO:2200773 CARD9 deficiency semapv:MappingInversion +MONDO:0000940 trypanosomiasis skos:exactMatch NANDO:2200774 Trypanosomiasis semapv:MappingInversion +MONDO:0010066 familial isolated congenital asplenia skos:exactMatch NANDO:2200775 Isolated congenital asplenia semapv:MappingInversion +MONDO:0003832 complement deficiency skos:exactMatch NANDO:2200776 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0013343 C1Q deficiency skos:exactMatch NANDO:2200777 C1q deficiency semapv:MappingInversion +MONDO:0013419 complement component C1s deficiency skos:exactMatch NANDO:2200779 C1s deficiency semapv:MappingInversion +MONDO:0009006 complement component 2 deficiency skos:exactMatch NANDO:2200781 C2 deficiency semapv:MappingInversion +MONDO:0013417 complement component 3 deficiency skos:exactMatch NANDO:2200782 C3 deficiency semapv:MappingInversion +MONDO:0012295 complement component 5 deficiency skos:exactMatch NANDO:2200783 C5 deficiency semapv:MappingInversion +MONDO:0012908 complement component 6 deficiency skos:exactMatch NANDO:2200784 C6 deficiency semapv:MappingInversion +MONDO:0012412 complement component 7 deficiency skos:exactMatch NANDO:2200785 C7 deficiency semapv:MappingInversion +MONDO:0013445 complement component 9 deficiency skos:exactMatch NANDO:2200787 C9 deficiency semapv:MappingInversion +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch NANDO:2200788 Factor D deficiency semapv:MappingInversion +MONDO:0010713 properdin deficiency, X-linked skos:exactMatch NANDO:2200789 Properdin deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:exactMatch NANDO:2200790 Factor I deficiency semapv:MappingInversion +MONDO:0012350 complement factor H deficiency skos:exactMatch NANDO:2200791 Factor H deficiency semapv:MappingInversion +MONDO:0017398 3MC syndrome skos:exactMatch NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome semapv:MappingInversion +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch NANDO:2200793 MASP2 deficiency semapv:MappingInversion +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch NANDO:2200794 Ficolin 3 Deficiency semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:exactMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:exactMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0014255 complement factor b deficiency skos:exactMatch NANDO:2200797 Factor B deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:exactMatch NANDO:2200798 Factor I deficiency semapv:MappingInversion +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:exactMatch NANDO:2200803 CD46 deficiency semapv:MappingInversion +MONDO:0012858 primary CD59 deficiency skos:exactMatch NANDO:2200804 Primary CD59 deficiency semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:exactMatch NANDO:2200805 Hyper eosinophilic syndrome semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:exactMatch NANDO:2200806 Hypereosinophilic syndrome semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch NANDO:2200807 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0009194 immunodeficiency 32B skos:exactMatch NANDO:2200808 Chronic active EB virus infection semapv:MappingInversion +MONDO:0012268 AIDS skos:exactMatch NANDO:2200809 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0005109 HIV infectious disease skos:exactMatch NANDO:2200810 HIV infection semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:exactMatch NANDO:2200812 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0017079 meningoencephalocele skos:exactMatch NANDO:2200813 Meningoencephalocele semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:exactMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:exactMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0001790 spinal cord lipoma skos:exactMatch NANDO:2200815 Spinal lipoma semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NANDO:2200816 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch NANDO:2200817 Lissencephaly semapv:MappingInversion +MONDO:0010011 schizencephaly skos:exactMatch NANDO:2200818 Schizencephaly semapv:MappingInversion +MONDO:0016296 holoprosencephaly skos:exactMatch NANDO:2200819 Holoprosencephaly semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:exactMatch NANDO:2200820 Septo-optic dysplasia semapv:MappingInversion +MONDO:0009072 Dandy-Walker syndrome skos:exactMatch NANDO:2200821 Dandy-Walker syndrome semapv:MappingInversion +MONDO:0016349 congenital hydrocephalus skos:exactMatch NANDO:2200822 Congenital hydrocephalus semapv:MappingInversion +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch NANDO:2200823 Megalencephaly-capillary malformation syndrome semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch NANDO:2200824 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:exactMatch NANDO:2200825 Rett syndrome semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:exactMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:exactMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NANDO:2200827 Neurocutaneous melanosis semapv:MappingInversion +MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch NANDO:2200828 Gorlin syndrome semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:exactMatch NANDO:2200829 von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:exactMatch NANDO:2200830 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:exactMatch NANDO:2200831 Werner syndrome semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:exactMatch NANDO:2200832 Cockayne syndrome semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch NANDO:2200833 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0010079 Canavan disease skos:exactMatch NANDO:2200834 Canavan disease semapv:MappingInversion +MONDO:0008752 Alexander disease skos:exactMatch NANDO:2200835 Alexander disease semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:exactMatch NANDO:2200836 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:exactMatch NANDO:2200838 Vanishing white matter disease semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NANDO:2200839 ATR-X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:exactMatch NANDO:2200840 Fragile X syndrome semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch NANDO:2200842 Cerebral creatine deficiency syndrome semapv:MappingInversion +MONDO:0015337 isolated craniosynostosis skos:exactMatch NANDO:2200843 Non-syndromic craniosynostosis semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:exactMatch NANDO:2200844 Apert syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:exactMatch NANDO:2200845 Crouzon disease semapv:MappingInversion +MONDO:0019012 Carpenter syndrome skos:exactMatch NANDO:2200847 Carpenter syndrome semapv:MappingInversion +MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch NANDO:2200848 Saethre-Chotzen syndrome semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:exactMatch NANDO:2200850 Moyamoya disease semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch NANDO:2200851 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0002327 intracranial cavernous angioma skos:exactMatch NANDO:2200852 Cavernous angioma of the brain and spinal cord semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:exactMatch NANDO:2200853 Spinal muscular atrophy semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch NANDO:2200854 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch NANDO:2200856 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch NANDO:2200857 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch NANDO:2200858 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch NANDO:2200859 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch NANDO:2200860 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch NANDO:2200861 Merosin-deficient congenital muscular dystrophy semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch NANDO:2200862 Ullrich congenital muscular dystrophy semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:exactMatch NANDO:2200864 Myotonic dystrophy semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:exactMatch NANDO:2200865 Becker muscular dystrophy semapv:MappingInversion +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch NANDO:2200866 LMNA-related congenital muscular dystrophy semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:exactMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:exactMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch NANDO:2200868 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:exactMatch NANDO:2200869 Nemaline myopathy semapv:MappingInversion +MONDO:0007294 central core myopathy skos:exactMatch NANDO:2200870 Central core disease semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:exactMatch NANDO:2200871 Multicore disease semapv:MappingInversion +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch NANDO:2200872 Minicore myopathy semapv:MappingInversion +MONDO:0019948 reducing body myopathy skos:exactMatch NANDO:2200875 Reducing body myopathy semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NANDO:2200876 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:exactMatch NANDO:2200877 Severe myoclonic epilepsy in infancy semapv:MappingInversion +MONDO:0018097 West syndrome skos:exactMatch NANDO:2200878 West syndrome semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch NANDO:2200879 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch NANDO:2200880 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009697 Lafora disease skos:exactMatch NANDO:2200881 Lafora disease semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:exactMatch NANDO:2200882 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:2200883 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NANDO:2200884 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:exactMatch NANDO:2200885 Segawa syndrome semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:2200886 Pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0009739 obsolete infantile neuroaxonal dystrophy skos:exactMatch NANDO:2200887 Infantile neuroaxonal dystrophy semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch NANDO:2200888 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0017381 congenital herpes simplex virus infection skos:exactMatch NANDO:2200889 Congenital herpes simplex virus infection semapv:MappingInversion +MONDO:0005713 obsolete MONDO:0005713 skos:exactMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0017361 congenital rubella syndrome skos:exactMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch NANDO:2200891 Congenital cytomegalovirus infection semapv:MappingInversion +MONDO:0005715 congenital toxoplasmosis skos:exactMatch NANDO:2200892 Congenital toxoplasmosis semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch NANDO:2200893 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NANDO:2200894 Aicardi-Goutieres syndrome 2 semapv:MappingInversion +MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch NANDO:2200895 Aicardi-Goutieres syndrome 3 semapv:MappingInversion +MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch NANDO:2200897 Aicardi-Goutieres syndrome 5 semapv:MappingInversion +MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:exactMatch NANDO:2200898 Aicardi-Goutieres syndrome 6 semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:2200899 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NANDO:2200900 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:exactMatch NANDO:2200902 Autoimmune encephalitis semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:exactMatch NANDO:2200904 Multiple sclerosis semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:exactMatch NANDO:2200906 Myasthenia gravis semapv:MappingInversion +MONDO:0009116 obsolete lactose intolerance skos:exactMatch NANDO:2200907 Lactose intolerance semapv:MappingInversion +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch NANDO:2200908 Congenital sucrase-isomaltase deficiency semapv:MappingInversion +MONDO:0011731 glucose-galactose malabsorption skos:exactMatch NANDO:2200909 Glucose-galactose malabsorption semapv:MappingInversion +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch NANDO:2200910 Enterokinase deficiency semapv:MappingInversion +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:exactMatch NANDO:2200911 Amylase deficiency semapv:MappingInversion +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch NANDO:2200912 Lipase deficiency semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:exactMatch NANDO:2200913 Microvillus inclusion disease semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:exactMatch NANDO:2200914 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch NANDO:2200915 Familial adenomatous polyposis semapv:MappingInversion +MONDO:0017380 juvenile polyposis syndrome skos:exactMatch NANDO:2200916 Juvenile polyposis semapv:MappingInversion +MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch NANDO:2200917 Peutz-Jeghers syndrome semapv:MappingInversion +MONDO:0016063 Cowden disease skos:exactMatch NANDO:2200918 Cowden syndrome semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:exactMatch NANDO:2200919 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:exactMatch NANDO:2200920 Ulcerative colitis semapv:MappingInversion +MONDO:0005011 Crohn disease skos:exactMatch NANDO:2200921 Crohn's disease semapv:MappingInversion +MONDO:0019787 autoimmune enteropathy skos:exactMatch NANDO:2200923 Autoimmune enteropathy semapv:MappingInversion +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch NANDO:2200924 IPEX syndrome semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0008867 biliary atresia skos:exactMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:exactMatch NANDO:2200931 Alagille syndrome semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch NANDO:2200933 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0010913 Caroli disease skos:exactMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0018808 Caroli syndrome skos:exactMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch NANDO:2200936 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:exactMatch NANDO:2200937 Liver cirrhosis semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch NANDO:2200941 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch NANDO:2200942 Hereditary pancreatitis semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:exactMatch NANDO:2200943 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:exactMatch NANDO:2200944 Short bowel syndrome semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:exactMatch NANDO:2200945 Hirschsprung disease semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:exactMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:exactMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:2200950 Persistent cloaca semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:2200951 Cloacal exstrophy semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch NANDO:2200952 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:exactMatch NANDO:2200953 Sotos syndrome semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:exactMatch NANDO:2200954 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch NANDO:2200955 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:exactMatch NANDO:2200956 Kabuki syndrome semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:exactMatch NANDO:2200957 Weaver syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch NANDO:2200958 Cornelia de Lange syndrome semapv:MappingInversion +MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch NANDO:2200959 Beckwith-Wiedemann syndrome semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:exactMatch NANDO:2200960 Angelman syndrome semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:exactMatch NANDO:2200961 5p- syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch NANDO:2200962 4p- Syndrome semapv:MappingInversion +MONDO:0018071 trisomy 18 skos:exactMatch NANDO:2200963 Trisomy 18 semapv:MappingInversion +MONDO:0018068 trisomy 13 skos:exactMatch NANDO:2200964 Trisomy 13 semapv:MappingInversion +MONDO:0008608 Down syndrome skos:exactMatch NANDO:2200965 Down syndrome semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch NANDO:2200967 CFC Syndrome semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:exactMatch NANDO:2200968 Marfan syndrome semapv:MappingInversion +MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch NANDO:2200969 Loeys-Dietz syndrome semapv:MappingInversion +MONDO:0007542 Camurati-Engelmann disease skos:exactMatch NANDO:2200970 Camurati-Engelmann disease semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:exactMatch NANDO:2200971 Costello syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:exactMatch NANDO:2200972 CHARGE syndrome semapv:MappingInversion +MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch NANDO:2200973 Hallermann-Streiff syndrome semapv:MappingInversion +MONDO:0010631 incontinentia pigmenti skos:exactMatch NANDO:2200974 Incontinentia pigmenti semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:exactMatch NANDO:2200975 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:exactMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:exactMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:exactMatch NANDO:2200977 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch NANDO:2200978 Simpson-Golabi-Behmel syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch NANDO:2200979 Smith-Lemli-Opitz syndrome semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:exactMatch NANDO:2200980 Moebius syndrome semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch NANDO:2200981 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch NANDO:2200982 Young-Simpson syndrome semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:exactMatch NANDO:2200983 VATER syndrome semapv:MappingInversion +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch NANDO:2200984 MECP2 duplication syndrome semapv:MappingInversion +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch NANDO:2200985 Takenouchi-Kosaki syndrome semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:exactMatch NANDO:2200986 Oculocutaneous albinism semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:exactMatch NANDO:2200987 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch NANDO:2200988 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch NANDO:2200989 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch NANDO:2200990 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch NANDO:2200991 Autosomal recessive congenital ichthyosis semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch NANDO:2200992 Harlequin ichthyosis semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:exactMatch NANDO:2200993 Netherton syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch NANDO:2200994 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0018781 KID syndrome skos:exactMatch NANDO:2200996 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:exactMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:exactMatch NANDO:2200998 CHILD syndrome semapv:MappingInversion +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:exactMatch NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:exactMatch NANDO:2201000 Epidermolysis bullosa semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:exactMatch NANDO:2201001 Pustular psoriasis semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:exactMatch NANDO:2201002 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:exactMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch NANDO:2201005 Anhidrotic ectodermal dysplasia semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NANDO:2201006 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:exactMatch NANDO:2201007 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0015929 thoracic malformation skos:exactMatch NANDO:2201008 Thoracic insufficiency syndrome semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:exactMatch NANDO:2201009 Achondroplasia semapv:MappingInversion +MONDO:0007793 hypochondroplasia skos:exactMatch NANDO:2201010 Hypochondroplasia semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:exactMatch NANDO:2201011 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:exactMatch NANDO:2201012 Hypophosphatasia semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:exactMatch NANDO:2201013 Osteopetrosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NANDO:2201014 Multiple cartilaginous exostosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0008145 Ollier disease skos:exactMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0016068 fibrochondrogenesis skos:exactMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0022800 type 2 collagenopathy skos:exactMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0019701 chondrodysplasia punctata skos:exactMatch NANDO:2201017 Chondrodysplasia punctata semapv:MappingInversion +MONDO:0008322 pseudoachondroplasia skos:exactMatch NANDO:2201018 Pseudoachondroplasia semapv:MappingInversion +MONDO:0007875 Larsen syndrome skos:exactMatch NANDO:2201019 Larsen syndrome semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:exactMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0018240 TRPV4-related bone disorder skos:exactMatch NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders semapv:MappingInversion +MONDO:0002933 osteosclerosis skos:exactMatch NANDO:2201022 Osteosclerotic diseases semapv:MappingInversion +MONDO:0009940 pycnodysostosis skos:exactMatch NANDO:2201023 Pycnodysostosis semapv:MappingInversion +MONDO:0001414 osteopoikilosis skos:exactMatch NANDO:2201024 Osteopoikilosis semapv:MappingInversion +MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch NANDO:2201026 Beals syndrome semapv:MappingInversion +MONDO:0007203 blue rubber bleb nevus skos:exactMatch NANDO:2201027 Blue rubber bleb nevus syndrome semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch NANDO:2201030 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0019175 primary lymphedema skos:exactMatch NANDO:2201031 Primary lymphedema semapv:MappingInversion +MONDO:0002013 lymphangioma skos:exactMatch NANDO:2201032 Lymphangioma semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:exactMatch NANDO:2201033 Lymphangiomatosis semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NANDO:2201034 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch NANDO:2201035 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0003075 bilateral retinoblastoma skos:exactMatch NANDO:2201038 Bilateral retinoblastoma semapv:MappingInversion +MONDO:0008888 Williams-Campbell syndrome skos:exactMatch NANDO:2201040 Bronchomalacia semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:2201042 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0017147 idiopathic pulmonary arterial hypertension skos:exactMatch NANDO:2201046 Idiopathic pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch NANDO:2201047 Familial pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease skos:exactMatch NANDO:2201048 Secondary pulmonary arterial hypertension semapv:MappingInversion +MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch NANDO:2201050 Familial central diabetes insipidus semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch NANDO:2201052 Multiple endocrine neoplasia type 2A semapv:MappingInversion +MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch NANDO:2201053 Multiple endocrine neoplasia type 2B semapv:MappingInversion +MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch NANDO:2201054 Medullary thyroid carcinoma semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NANDO:2201055 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch NANDO:2201056 Oligoarticular juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0043152 negative rheumatoid factor polyarthritis skos:exactMatch NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011849 psoriatic arthritis skos:exactMatch NANDO:2201059 Psoriatic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019607 unspecified juvenile idiopathic arthritis skos:exactMatch NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:exactMatch NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:exactMatch NANDO:2201067 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:2201068 familial cold autoinflammatory syndrome semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NANDO:2201069 Maturity-onset diabetes of the young type 1 semapv:MappingInversion +MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch NANDO:2201070 Maturity-onset diabetes of the young type 2 semapv:MappingInversion +MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch NANDO:2201071 Maturity-onset diabetes of the young type 3 semapv:MappingInversion +MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch NANDO:2201072 Maturity-onset diabetes of the young type 4 semapv:MappingInversion +MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch NANDO:2201073 Maturity-onset diabetes of the young type 5 semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:exactMatch NANDO:2201075 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch NANDO:2201076 BH4 deficiency semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch NANDO:2201077 BH4-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0017051 classic maple syrup urine disease skos:exactMatch NANDO:2201078 Classic form maple syrup urine disease semapv:MappingInversion +MONDO:0017052 intermediate maple syrup urine disease skos:exactMatch NANDO:2201079 Intermediate maple syrup urine disease semapv:MappingInversion +MONDO:0017053 intermittent maple syrup urine disease skos:exactMatch NANDO:2201080 Intermittent maple syrup urine disease semapv:MappingInversion +MONDO:0017054 thiamine-responsive maple syrup urine disease skos:exactMatch NANDO:2201081 Thiamine-responsive maple syrup urine disease semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0016600 acute neonatal citrullinemia type I skos:exactMatch NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0016601 adult-onset citrullinemia type I skos:exactMatch NANDO:2201095 Late-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch NANDO:2201105 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch NANDO:2201106 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch NANDO:2201108 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch NANDO:2201109 Methylcobalamin deficiency cblE type semapv:MappingInversion +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type semapv:MappingInversion +MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0021915 arakawa syndrome 2 skos:exactMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NANDO:2201147 Presymptomatic trifunctional protein deficiency semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:2201151 Glycogen storage disease type 0a semapv:MappingInversion +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch NANDO:2201152 Glycogen storage disease type 0b semapv:MappingInversion +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch NANDO:2201153 Glycogen storage disease type 1a semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:exactMatch NANDO:2201154 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:exactMatch NANDO:2201159 Glycogen storage disease type IV, hepatic form semapv:MappingInversion +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:exactMatch NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form semapv:MappingInversion +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:exactMatch NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form semapv:MappingInversion +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:exactMatch NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form semapv:MappingInversion +MONDO:0009897 adult polyglucosan body disease skos:exactMatch NANDO:2201163 Glycogen storage disease type IV, adult form semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch NANDO:2201164 Glycogen storage disease type IXa semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:exactMatch NANDO:2201165 Glycogen storage disease type IXb semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:exactMatch NANDO:2201166 Glycogen storage disease type IXc semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:exactMatch NANDO:2201167 Glycogen storage disease type IXd semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:exactMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:exactMatch NANDO:2201169 Scheie disease semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch NANDO:2201170 Hurler-Scheie disease semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch NANDO:2201171 Mucopolysaccharidosis type II, attenuated form semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch NANDO:2201172 Mucopolysaccharidosis type II, intermediate form semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch NANDO:2201173 Mucopolysaccharidosis type II, severe form semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch NANDO:2201174 Mucopolysaccharidosis type III A semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch NANDO:2201175 Mucopolysaccharidosis type III B semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch NANDO:2201176 Mucopolysaccharidosis type III C semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch NANDO:2201177 Mucopolysaccharidosis type III D semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch NANDO:2201178 Mucopolysaccharidosis type IV A semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch NANDO:2201179 Mucopolysaccharidosis type IV B semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch NANDO:2201189 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:exactMatch NANDO:2201190 Beta-mannosidosis semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:exactMatch NANDO:2201191 Sialidosis type 1 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:2201192 Sialidosis type 2 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:2201193 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch NANDO:2201196 GM1 gangliosidosis, infantile form semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch NANDO:2201197 GM1 gangliosidosis, juvenile form semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch NANDO:2201198 GM1 gangliosidosis, adult form semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:exactMatch NANDO:2201199 Tay-Sachs disease semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:exactMatch NANDO:2201200 Sandhoff disease semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch NANDO:2201201 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch NANDO:2201202 Metachromatic leukodystrophy, late infantile form semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch NANDO:2201203 Metachromatic leukodystrophy, juvenile form semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch NANDO:2201204 Metachromatic leukodystrophy, adult form semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch NANDO:2201205 Saposin B deficiency semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:exactMatch NANDO:2201206 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:exactMatch NANDO:2201207 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch NANDO:2201209 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:exactMatch NANDO:2201210 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:exactMatch NANDO:2201211 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:exactMatch NANDO:2201212 Gaucher disease type 3 semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:exactMatch NANDO:2201216 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:exactMatch NANDO:2201219 Adult Krabbe disease semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch NANDO:2201229 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:exactMatch NANDO:2201232 Wolman disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:exactMatch NANDO:2201233 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:exactMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch NANDO:2201235 Intermediate cystinosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:exactMatch NANDO:2201236 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch NANDO:2201237 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:exactMatch NANDO:2201238 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201240 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201244 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch NANDO:2201246 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:exactMatch NANDO:2201248 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch NANDO:2201255 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch NANDO:2201256 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch NANDO:2201258 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:exactMatch NANDO:2201263 Acute intermittent porphyria semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:exactMatch NANDO:2201264 Hereditary coproporphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:exactMatch NANDO:2201265 Variegate porphyria semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:exactMatch NANDO:2201267 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:exactMatch NANDO:2201268 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch NANDO:2201269 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch NANDO:2201270 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0011399 alpha thalassemia skos:exactMatch NANDO:2201273 α-thalassemia semapv:MappingInversion +MONDO:0019402 beta thalassemia skos:exactMatch NANDO:2201274 β-thalassemia semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:exactMatch NANDO:2201275 Congenital aplastic anemia semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:exactMatch NANDO:2201276 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0015610 acquired aplastic anemia skos:exactMatch NANDO:2201277 Secondary aplastic anemia semapv:MappingInversion +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch NANDO:2201279 gp91phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch NANDO:2201280 p22phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch NANDO:2201281 p47phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch NANDO:2201282 p67phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:exactMatch NANDO:2201283 p40phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NANDO:2201287 Altman type IV sacrococcygeal teratoma semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:exactMatch NANDO:2201288 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch NANDO:2201289 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch NANDO:2201291 18q-syndrome semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch NANDO:2201292 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch NANDO:2201293 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0011449 Salla disease skos:exactMatch NANDO:2201294 Salla disease semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch NANDO:2201296 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:exactMatch NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:exactMatch NANDO:2201299 AGAT deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NANDO:2201300 GAMT deficiency semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:exactMatch NANDO:2201301 SLC6A8 deficiency semapv:MappingInversion +MONDO:0018112 isolated scaphocephaly skos:exactMatch NANDO:2201302 Non-syndromic sagittal craniosynostosis semapv:MappingInversion +MONDO:0018065 isolated trigonocephaly skos:exactMatch NANDO:2201305 Non-syndromic metopic craniosynostosis semapv:MappingInversion +MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch NANDO:2201317 Anti-NMDA receptor encephalitis semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NANDO:2201319 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch NANDO:2201320 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch NANDO:2201321 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:exactMatch NANDO:2201322 Neuromyelitis optica semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NANDO:2201341 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch NANDO:2201342 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0017608 obsolete dystrophic epidermolysis bullosa skos:exactMatch NANDO:2201343 Dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0008702 achondrogenesis type II skos:exactMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0019669 hypochondrogenesis skos:exactMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch NANDO:2201347 Platyspondylic dysplasia, Torrance type semapv:MappingInversion +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch NANDO:2201348 Spondyloepiphyseal dysplasia congenita semapv:MappingInversion +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type semapv:MappingInversion +MONDO:0007987 Kniest dysplasia skos:exactMatch NANDO:2201350 Kniest dysplasia semapv:MappingInversion +MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch NANDO:2201351 Spondyloperipheral dysplasia semapv:MappingInversion +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis semapv:MappingInversion +MONDO:0012206 Czech dysplasia, metatarsal type skos:exactMatch NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:MappingInversion +MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NANDO:2201354 Stickler syndrome type 1 semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:exactMatch NANDO:2201358 CHILD syndrome semapv:MappingInversion +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch NANDO:2201360 Brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0008974 Greenberg dysplasia skos:exactMatch NANDO:2201361 Greenberg dysplasia semapv:MappingInversion +MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch NANDO:2201362 Astley-Kendall dysplasia semapv:MappingInversion +MONDO:0007970 melorheostosis skos:exactMatch NANDO:2201364 Melorheostosis semapv:MappingInversion +MONDO:0009138 dysosteosclerosis skos:exactMatch NANDO:2201365 Dysosteosclerosis semapv:MappingInversion +MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch NANDO:2201366 Craniometaphyseal dysplasia semapv:MappingInversion +MONDO:0009943 Pyle disease skos:exactMatch NANDO:2201367 Metaphyseal dysplasias semapv:MappingInversion +MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch NANDO:2201368 Craniodiaphyseal dysplasia semapv:MappingInversion +MONDO:0017838 sclerosteosis skos:exactMatch NANDO:2201369 Sclerosteosis semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch NANDO:2201378 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NANDO:2201385 Galloway-Mowat syndrome semapv:MappingInversion + diff --git a/src/mappings/nando-mondo.sssom.tsv b/src/mappings/nando-mondo.sssom.tsv new file mode 100644 index 00000000..505a746d --- /dev/null +++ b/src/mappings/nando-mondo.sssom.tsv @@ -0,0 +1,2357 @@ +#curie_map: +# NANDO: "http://nanbyodata.jp/ontology/NANDO_" +# MONDO: "http://purl.obolibrary.org/obo/MONDO_" +# orcid: "https://orcid.org/" +#creator_id: +# - "orcid:0000-0003-0011-764X" +# - "orcid:0000-0002-0170-9172" +#license: "https://creativecommons.org/licenses/by/4.0/" +#mapping_set_title: "NANDO - Mondo mappings provided by nanbyodata.jp" +#mapping_set_description: "This mapping set is manually curated by the NANDO team at nanbyodata.jp." +#mapping_provider: "http://nanbyodata.jp" +subject_id subject_label predicate_id object_id object_label mapping_justification +NANDO:1100001 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0004955 obsolete metabolic syndrome semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0005066 metabolic disease semapv:ManualMappingCuration +NANDO:1100004 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:1100005 Cardiovascular disease skos:exactMatch MONDO:0004995 cardiovascular disorder semapv:ManualMappingCuration +NANDO:1100006 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:1100009 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:1100010 Respiratory disease skos:exactMatch MONDO:0005087 respiratory system disorder semapv:ManualMappingCuration +NANDO:1100013 Gastrointestinal disease skos:exactMatch MONDO:0004335 digestive system disorder semapv:ManualMappingCuration +NANDO:1100014 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:1100015 Otorhinolaryngological disease skos:exactMatch MONDO:0024623 otorhinolaryngologic disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0010735 Kennedy disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0016113 bulbospinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200002 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:ManualMappingCuration +NANDO:1200003 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200004 Spinal muscular atrophy type I skos:exactMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:ManualMappingCuration +NANDO:1200005 Spinal muscular atrophy type II skos:exactMatch MONDO:0009673 spinal muscular atrophy, type II semapv:ManualMappingCuration +NANDO:1200006 Spinal muscular atrophy type III skos:exactMatch MONDO:0009672 spinal muscular atrophy, type III semapv:ManualMappingCuration +NANDO:1200007 Spinal muscular atrophy type IV skos:exactMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:ManualMappingCuration +NANDO:1200008 Primary lateral sclerosis skos:exactMatch MONDO:0018155 lateral sclerosis semapv:ManualMappingCuration +NANDO:1200009 Progressive supranuclear palsy skos:exactMatch MONDO:0019037 progressive supranuclear palsy semapv:ManualMappingCuration +NANDO:1200010 Parkinson's disease skos:exactMatch MONDO:0005180 Parkinson disease semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022308 corticobasal degeneration disorder semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022880 obsolete corticobasal degeneration semapv:ManualMappingCuration +NANDO:1200012 Huntington's disease skos:exactMatch MONDO:0007739 Huntington disease semapv:ManualMappingCuration +NANDO:1200013 Neuroacanthocytosis skos:exactMatch MONDO:0016987 neuroacanthocytosis semapv:ManualMappingCuration +NANDO:1200014 Chorea-acanthocytosis skos:exactMatch MONDO:0008695 chorea-acanthocytosis semapv:ManualMappingCuration +NANDO:1200015 McLeod syndrome skos:exactMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:ManualMappingCuration +NANDO:1200016 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:exactMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:ManualMappingCuration +NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:exactMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:ManualMappingCuration +NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:exactMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200020 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:1200021 Congenital myasthenic syndrome skos:exactMatch MONDO:0018940 congenital myasthenic syndrome semapv:ManualMappingCuration +NANDO:1200023 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:1200024 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:1200025 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200026 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200027 Neuromyelitis optica spectrum disorders skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:1200028 Baló concentric sclerosis skos:exactMatch MONDO:0016430 Balo concentric sclerosis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:1200031 Multifocal motor neuropathy skos:exactMatch MONDO:0018979 multifocal motor neuropathy semapv:ManualMappingCuration +NANDO:1200032 Sporadic inclusion body myositis skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200033 Crow-Fukase syndrome skos:exactMatch MONDO:0017364 POEMS syndrome semapv:ManualMappingCuration +NANDO:1200034 Multiple system atrophy skos:exactMatch MONDO:0007803 multiple system atrophy semapv:ManualMappingCuration +NANDO:1200035 Multiple system atrophy, cerebellar type skos:exactMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:ManualMappingCuration +NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:exactMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:ManualMappingCuration +NANDO:1200037 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:1200041 Spinocerebellar ataxia type 3 skos:exactMatch MONDO:0007182 Machado-Joseph disease semapv:ManualMappingCuration +NANDO:1200042 Spinocerebellar ataxia type 6 skos:exactMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:ManualMappingCuration +NANDO:1200043 Dentatorubropallidoluysian atrophy skos:exactMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:ManualMappingCuration +NANDO:1200044 Spinocerebellar ataxia type 31 skos:exactMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:ManualMappingCuration +NANDO:1200045 Spinocerebellar ataxia type 1 skos:exactMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:ManualMappingCuration +NANDO:1200046 Spinocerebellar ataxia type 2 skos:exactMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:ManualMappingCuration +NANDO:1200047 Spinocerebellar ataxia type 7 skos:exactMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:ManualMappingCuration +NANDO:1200048 Spinocerebellar ataxia type 36 skos:exactMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:ManualMappingCuration +NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:exactMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:ManualMappingCuration +NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:exactMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualMappingCuration +NANDO:1200052 Hereditary spastic paraplegia skos:exactMatch MONDO:0019064 hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200053 Pure hereditary spastic paraplegia skos:exactMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200054 Complex hereditary spastic paraplegia skos:exactMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200055 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:1200056 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:1200057 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:1200058 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:1200059 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:1200061 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:1200062 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:1200063 Niemann-Pick disease type C skos:exactMatch MONDO:0018982 Niemann-Pick disease type C semapv:ManualMappingCuration +NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:1200066 GM1 gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:1200067 Infantile GM1 gangliosidosis skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:1200068 Juvenile GM1 gangliosidosis skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:1200069 Adult GM1 gangliosidosis skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:1200070 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:1200071 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:1200072 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:1200073 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:1200074 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:1200075 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:1200077 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:1200078 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:1200082 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:1200083 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200086 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:1200094 Hurler syndrome skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:1200095 Scheie syndrome skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:1200096 Hurler-Scheie syndrome skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:1200097 Hunter syndrome skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:1200098 Hunter syndrome type A skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:1200099 Hunter syndrome type B skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:1200100 Sanfilippo disease skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:1200101 Sanfilippo disease type A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:1200102 Sanfilippo disease type B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:1200103 Sanfilippo disease type C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:1200104 Sanfilippo disease type D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:1200105 Morquio syndrome skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:1200106 Morquio syndrome type A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:1200107 Morquio syndrome type B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:1200108 Maroteaux-Lamy syndrome skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200111 Sly syndrome skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:1200115 Hyaluronidase deficiency skos:exactMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:ManualMappingCuration +NANDO:1200116 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:1200117 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:1200118 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200119 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:1200120 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200124 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:1200125 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:1200126 Alpha-mannosidosis skos:exactMatch MONDO:0009561 alpha-mannosidosis semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:1200128 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:1200129 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:1200130 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:1200133 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:1200134 Schindler disease skos:exactMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:ManualMappingCuration +NANDO:1200135 Schindler disease type I skos:exactMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:ManualMappingCuration +NANDO:1200136 Schindler disease type 2 skos:exactMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:ManualMappingCuration +NANDO:1200137 Schindler disease type 3 skos:exactMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:ManualMappingCuration +NANDO:1200138 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200139 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:1200142 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200143 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200144 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:1200145 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200146 Free sialic acid storage disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:1200147 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:1200148 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:1200149 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200157 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:1200161 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200163 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200164 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:1200165 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200168 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:1200175 Leigh's encephalomyelopathy skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:1200178 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100133 mitochondrial complex I deficiency semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:ManualMappingCuration +NANDO:1200181 Mitochondrial complex II deficiency skos:exactMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:ManualMappingCuration +NANDO:1200183 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:1200186 Prion disease skos:exactMatch MONDO:0005429 prion disease semapv:ManualMappingCuration +NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200188 Genetic prion diseases skos:exactMatch MONDO:0017234 inherited prion disease semapv:ManualMappingCuration +NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:ManualMappingCuration +NANDO:1200191 Fatal familial insomnia skos:exactMatch MONDO:0010808 fatal familial insomnia semapv:ManualMappingCuration +NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:exactMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200195 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200196 Typical subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200205 Progressive multifocal leukoencephalopathy skos:exactMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200206 HTLV-1-associated myelopathy skos:exactMatch MONDO:0008039 tropical spastic paraparesis semapv:ManualMappingCuration +NANDO:1200207 Idiopathic basal ganglia calcification skos:exactMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:ManualMappingCuration +NANDO:1200208 Familial idiopathic basal ganglia calcification skos:exactMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:ManualMappingCuration +NANDO:1200209 Systemic amyloidosis skos:exactMatch MONDO:0017816 primary systemic amyloidosis semapv:ManualMappingCuration +NANDO:1200211 Amyloid light-chain amyloidosis skos:exactMatch MONDO:0019438 AL amyloidosis semapv:ManualMappingCuration +NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:exactMatch MONDO:0018018 wild type ATTR amyloidosis semapv:ManualMappingCuration +NANDO:1200214 Familial amyloid polyneuropathy skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:ManualMappingCuration +NANDO:1200216 Distal myopathy skos:exactMatch MONDO:0018949 distal myopathy semapv:ManualMappingCuration +NANDO:1200217 Miyoshi myopathy skos:exactMatch MONDO:0009685 Miyoshi myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0011603 GNE myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 oculopharyngodistal myopathy semapv:ManualMappingCuration +NANDO:1200220 Bethlem Myopathy skos:exactMatch MONDO:0008029 Bethlem myopathy semapv:ManualMappingCuration +NANDO:1200222 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200223 X-linked Myopathy with excessive autophagy skos:exactMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:ManualMappingCuration +NANDO:1200224 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0007039 neurofibromatosis type 2 semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200228 Pemphigus skos:exactMatch MONDO:0006594 pemphigus semapv:ManualMappingCuration +NANDO:1200229 Pemphigus vulgaris skos:exactMatch MONDO:0008219 pemphigus vulgaris semapv:ManualMappingCuration +NANDO:1200230 Pemphigus foliaceus skos:exactMatch MONDO:0019324 pemphigus foliaceus semapv:ManualMappingCuration +NANDO:1200231 Paraneoplastic pemphigus skos:exactMatch MONDO:0018974 paraneoplastic pemphigus semapv:ManualMappingCuration +NANDO:1200232 Pemphigus vegetans skos:exactMatch MONDO:0019322 pemphigus vegetans semapv:ManualMappingCuration +NANDO:1200233 Pemphigus erythematosus skos:exactMatch MONDO:0019323 pemphigus erythematosus semapv:ManualMappingCuration +NANDO:1200234 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200235 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:1200236 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200239 Kindler syndrome skos:exactMatch MONDO:0008260 Kindler syndrome semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:1200243 Impetigo herpetiformis skos:exactMatch MONDO:0004591 impetigo herpetiformis semapv:ManualMappingCuration +NANDO:1200244 Acrodermatitis continua of Hallopeau skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:1200245 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:1200246 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:1200258 Giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200259 Cranial giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200260 Large-vessel giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200261 Polyarteritis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:1200262 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:1200263 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200265 Rheumatoid vasculitis skos:exactMatch MONDO:0043267 rheumatoid vasculitis semapv:ManualMappingCuration +NANDO:1200266 Buerger's disease skos:exactMatch MONDO:0008889 thromboangiitis obliterans semapv:ManualMappingCuration +NANDO:1200267 Primary antiphospholipid antibody syndrome skos:exactMatch MONDO:0005204 primary antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200270 Catastrophic antiphospholipid syndrome skos:exactMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200271 Antiphospholipid antibody-related disease skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200272 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:1200274 Dermatomyositis skos:exactMatch MONDO:0016367 dermatomyositis semapv:ManualMappingCuration +NANDO:1200275 Amyopathic dermatomyositis skos:exactMatch MONDO:0043317 amyopathic dermatomyositis semapv:ManualMappingCuration +NANDO:1200276 Polymyositis skos:exactMatch MONDO:0019127 polymyositis semapv:ManualMappingCuration +NANDO:1200277 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:1200278 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:1200279 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200280 Primary Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200282 Adult Still's disease skos:exactMatch MONDO:0019355 adult-onset Still disease semapv:ManualMappingCuration +NANDO:1200283 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:1200284 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:1200286 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200292 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200294 Secondary restrictive cardiomyopathy skos:exactMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200295 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200296 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200302 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:1200303 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200304 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200305 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200306 Warm antibody hemolytic anemia skos:exactMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:ManualMappingCuration +NANDO:1200307 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:1200308 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:exactMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200310 Evans syndrome skos:exactMatch MONDO:0016030 Evans syndrome semapv:ManualMappingCuration +NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200315 Idiopathic thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200316 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200320 Primary immunodeficiency syndrome skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:1200321 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:1200322 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:1200323 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:1200324 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:1200326 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:1200327 Zap-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:1200328 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:1200329 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:1200330 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:1200331 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:1200332 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:1200333 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:1200334 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:1200336 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:1200337 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:1200338 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200340 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:1200342 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200343 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:1200344 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:1200345 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:1200346 IgG subclass deficiency skos:exactMatch MONDO:0045045 selective IgG immunodeficiency semapv:ManualMappingCuration +NANDO:1200347 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:1200350 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200351 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200353 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:1200354 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:1200355 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:1200356 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:1200357 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:1200358 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:1200361 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:1200362 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:1200363 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:1200364 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:1200366 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:1200367 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200368 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200369 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200371 Ossification of posterior longitudinal ligament skos:exactMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:ManualMappingCuration +NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:exactMatch MONDO:0005965 spinal stenosis semapv:ManualMappingCuration +NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:exactMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:ManualMappingCuration +NANDO:1200375 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:exactMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:ManualMappingCuration +NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:exactMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200379 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:1200381 Central precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:exactMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualMappingCuration +NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:exactMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200385 Growth hormone secreting pituitary adenoma skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200387 Hypopituitarism syndrome skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:1200388 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200390 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:1200394 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:1200396 Congenital adrenal enzyme deficiency skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200399 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200400 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200401 17-α-Hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200402 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200404 DAX1 abnormality skos:exactMatch MONDO:0010226 46,XY sex reversal 2 semapv:ManualMappingCuration +NANDO:1200405 SF-1 abnormality skos:exactMatch MONDO:0013066 46,XY sex reversal 3 semapv:ManualMappingCuration +NANDO:1200406 IMAge syndrome skos:exactMatch MONDO:0013873 IMAGe syndrome semapv:ManualMappingCuration +NANDO:1200408 MC2R deficiency skos:exactMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:ManualMappingCuration +NANDO:1200409 MRAP deficiency skos:exactMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:ManualMappingCuration +NANDO:1200410 Allgrove syndrome skos:exactMatch MONDO:0009279 triple-A syndrome semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:1200412 Autoimmune Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200415 Sarcoidosis skos:exactMatch MONDO:0019338 sarcoidosis semapv:ManualMappingCuration +NANDO:1200416 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200417 Idiopathic pulmonary fibrosis skos:exactMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:ManualMappingCuration +NANDO:1200419 Non-specific interstitial pneumonia skos:exactMatch MONDO:0019622 non-specific interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200420 Acute interstitial pneumonia skos:exactMatch MONDO:0019203 acute interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200421 Cryptogenic organizing pneumonia skos:exactMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:ManualMappingCuration +NANDO:1200422 Desquamative interstitial pneumonia skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200424 Lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200425 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200427 Pulmonary veno-occlusive disease skos:exactMatch MONDO:0009937 pulmonary venoocclusive disease semapv:ManualMappingCuration +NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:exactMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:ManualMappingCuration +NANDO:1200430 Lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 lymphangioleiomyomatosis semapv:ManualMappingCuration +NANDO:1200431 Retinitis pigmentosa skos:exactMatch MONDO:0019200 retinitis pigmentosa semapv:ManualMappingCuration +NANDO:1200437 Budd-Chiari syndrome skos:exactMatch MONDO:0010947 Budd-Chiari syndrome semapv:ManualMappingCuration +NANDO:1200438 Idiopathic portal hypertension skos:exactMatch MONDO:0021969 Banti syndrome semapv:ManualMappingCuration +NANDO:1200439 Primary biliary cholangitis skos:exactMatch MONDO:0005388 primary biliary cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200441 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200442 Typical autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200444 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200445 small bowel Crohn disease skos:exactMatch MONDO:0005539 small bowel Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005532 Crohn's colitis semapv:ManualMappingCuration +NANDO:1200447 Crohn ileocolitis skos:exactMatch MONDO:0005534 ileocolitis semapv:ManualMappingCuration +NANDO:1200449 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:1200450 Pan-ulcerative colitis skos:exactMatch MONDO:0005536 pancolitis semapv:ManualMappingCuration +NANDO:1200451 Left-sided colitis skos:exactMatch MONDO:0005533 distal colitis semapv:ManualMappingCuration +NANDO:1200454 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:1200456 Eosinophilic esophagitis skos:exactMatch MONDO:0005361 eosinophilic esophagitis semapv:ManualMappingCuration +NANDO:1200457 Eosinophilic gastroenteritis skos:exactMatch MONDO:0016129 eosinophilic gastroenteritis semapv:ManualMappingCuration +NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:1200460 Congenital isolated hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:1200461 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:1200462 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:1200463 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:1200464 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:1200465 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:1200466 Familial cold autoinflammatorysyndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200467 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:1200469 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200470 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:1200473 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200476 Blau syndrome skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:1200477 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:1200478 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:1200479 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:1200481 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200483 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:1200485 Marinesco-Sjogren syndrome skos:exactMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200486 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:1200487 Dystrophinopathies skos:exactMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:ManualMappingCuration +NANDO:1200488 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:1200489 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:1200490 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:1200493 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:ManualMappingCuration +NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:1200495 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:1200496 Non-dystrophic myotonia skos:exactMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:ManualMappingCuration +NANDO:1200497 Myotonia congenita skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200498 Thomsen disease skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200499 Becker disease skos:exactMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:ManualMappingCuration +NANDO:1200500 Sodium channel myotonia skos:exactMatch MONDO:0018959 potassium-aggravated myotonia semapv:ManualMappingCuration +NANDO:1200501 Paramyotonia congenita skos:exactMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:ManualMappingCuration +NANDO:1200502 Hereditary periodic paralysis skos:exactMatch MONDO:0000995 familial periodic paralysis semapv:ManualMappingCuration +NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:exactMatch MONDO:0008223 hypokalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:exactMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200506 Syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200507 Symptomatic syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:1200510 Isaacs syndrome skos:exactMatch MONDO:0019399 Isaac syndrome semapv:ManualMappingCuration +NANDO:1200511 Hereditary dystonia skos:exactMatch MONDO:0044807 inherited dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0044808 obsolete early onset primary dystonia semapv:ManualMappingCuration +NANDO:1200513 Dystonia 2 skos:exactMatch MONDO:0009141 torsion dystonia 2 semapv:ManualMappingCuration +NANDO:1200514 Dystonia 3 skos:exactMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:ManualMappingCuration +NANDO:1200515 Dystonia 4 skos:exactMatch MONDO:0007493 torsion dystonia 4 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0007495 dystonia 5 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:1200517 Dystonia 6 skos:exactMatch MONDO:0011264 torsion dystonia 6 semapv:ManualMappingCuration +NANDO:1200518 Dystonia 7 skos:exactMatch MONDO:0011200 torsion dystonia 7 semapv:ManualMappingCuration +NANDO:1200519 Dystonia 8 skos:exactMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200520 Dystonia 9 skos:exactMatch MONDO:0010983 dystonia 9 semapv:ManualMappingCuration +NANDO:1200521 Dystonia 10 skos:exactMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200522 Dystonia 11 skos:exactMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:ManualMappingCuration +NANDO:1200523 Dystonia 12 skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200525 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:exactMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:ManualMappingCuration +NANDO:1200527 Dystonia 13 skos:exactMatch MONDO:0011886 torsion dystonia 13 semapv:ManualMappingCuration +NANDO:1200528 Dystonia 15 skos:exactMatch MONDO:0011844 myoclonic dystonia 15 semapv:ManualMappingCuration +NANDO:1200529 Dystonia 16 skos:exactMatch MONDO:0012789 dystonia 16 semapv:ManualMappingCuration +NANDO:1200530 Dystonia 17 skos:exactMatch MONDO:0012895 torsion dystonia 17 semapv:ManualMappingCuration +NANDO:1200531 Dystonia 18 skos:exactMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:ManualMappingCuration +NANDO:1200532 Dystonia 19 skos:exactMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200533 Dystonia 20 skos:exactMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:exactMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:ManualMappingCuration +NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:exactMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:ManualMappingCuration +NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200542 Neuroferritinopathy skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200543 Superficial siderosis skos:exactMatch MONDO:0016594 superficial siderosis semapv:ManualMappingCuration +NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0010829 CARASIL syndrome semapv:ManualMappingCuration +NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:exactMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:exactMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:ManualMappingCuration +NANDO:1200547 Perry syndrome skos:exactMatch MONDO:0008201 Perry syndrome semapv:ManualMappingCuration +NANDO:1200548 Frontotemporal lobar degeneration skos:exactMatch MONDO:0017276 frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200549 Behavioral variant frontotemporal dementia skos:exactMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200550 Semantic dementia skos:exactMatch MONDO:0010857 semantic dementia semapv:ManualMappingCuration +NANDO:1200551 Bickerstaff's brainstem encephalitis skos:exactMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:ManualMappingCuration +NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:1200554 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:1200555 Alexander disease type I skos:exactMatch MONDO:0018209 Alexander disease type I semapv:ManualMappingCuration +NANDO:1200556 Alexander disease type II skos:exactMatch MONDO:0018210 Alexander disease type II semapv:ManualMappingCuration +NANDO:1200558 Congenital suprabulbar paresis skos:exactMatch MONDO:0008503 Worster-Drought syndrome semapv:ManualMappingCuration +NANDO:1200559 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:ManualMappingCuration +NANDO:1200562 Aicardi syndrome skos:exactMatch MONDO:0010568 Aicardi syndrome semapv:ManualMappingCuration +NANDO:1200563 Hemimegalencephaly skos:exactMatch MONDO:0020492 hemimegalencephaly semapv:ManualMappingCuration +NANDO:1200564 Focal cortical dysplasia skos:exactMatch MONDO:0019009 isolated focal cortical dysplasia semapv:ManualMappingCuration +NANDO:1200565 Focal cortical dysplasia type 1a skos:exactMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:ManualMappingCuration +NANDO:1200566 Focal cortical dysplasia type 1b skos:exactMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:ManualMappingCuration +NANDO:1200567 Focal cortical dysplasia type 1c skos:exactMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:ManualMappingCuration +NANDO:1200574 Neuronal migration defects skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:1200576 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:1200577 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:1200579 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:1200580 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:1200582 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:1200584 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:1200587 Dravet syndrome skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:exactMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:ManualMappingCuration +NANDO:1200589 Myoclonic absence epilepsy skos:exactMatch MONDO:0019487 epilepsy with myoclonic absences semapv:ManualMappingCuration +NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:exactMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:ManualMappingCuration +NANDO:1200591 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:1200592 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:1200593 Ohtahara syndrome skos:exactMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:ManualMappingCuration +NANDO:1200594 Early myoclonic encephalopathy skos:exactMatch MONDO:0016022 early myoclonic encephalopathy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:ManualMappingCuration +NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:exactMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:ManualMappingCuration +NANDO:1200597 Ring chromosome 20 syndrome skos:exactMatch MONDO:0015436 ring chromosome 20 semapv:ManualMappingCuration +NANDO:1200598 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:1200599 PCDH19-related syndrome skos:exactMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:ManualMappingCuration +NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0019123 continuous spikes and waves during sleep semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:ManualMappingCuration +NANDO:1200602 Landau-Kleffner syndrome skos:exactMatch MONDO:0009509 Landau-Kleffner syndrome semapv:ManualMappingCuration +NANDO:1200603 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200604 Typical Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200605 Atypical Rett syndrome skos:exactMatch MONDO:0017746 atypical Rett syndrome semapv:ManualMappingCuration +NANDO:1200606 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:1200608 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:1200609 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:1200610 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200613 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200614 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:1200616 Congenital ichthyosiform erythroderma skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0017778 lamellar ichthyosis semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200618 Ichthyosis syndrome skos:exactMatch MONDO:0019269 ichthyosis semapv:ManualMappingCuration +NANDO:1200619 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200620 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200624 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200625 Recessive X-linked ichtyosis skos:exactMatch MONDO:0010622 recessive X-linked ichthyosis semapv:ManualMappingCuration +NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:exactMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200627 Trichothiodystrophy skos:exactMatch MONDO:0018053 trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200628 Ichthyosis follicularis skos:exactMatch MONDO:0043094 ichthyosis, follicular semapv:ManualMappingCuration +NANDO:1200629 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:1200630 Conradi Hünermann Happle syndrome skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:1200631 Benign familial pemphigus skos:exactMatch MONDO:0008218 Hailey-Hailey disease semapv:ManualMappingCuration +NANDO:1200633 Bullous pemphigoid skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200634 Mucous membrane pemphigoid skos:exactMatch MONDO:0018746 mucous membrane pemphigoid semapv:ManualMappingCuration +NANDO:1200635 Epidermolysis bullosa acquisita skos:exactMatch MONDO:0018747 acquired epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200637 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200638 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:ManualMappingCuration +NANDO:1200639 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200640 Griscelli syndrome skos:exactMatch MONDO:0018306 Griscelli syndrome semapv:ManualMappingCuration +NANDO:1200641 Non-syndromic oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:1200643 Pseudoxanthoma elasticum skos:exactMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:ManualMappingCuration +NANDO:1200644 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:1200645 Ehlers-Danlos Syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:1200653 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:1200654 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:1200655 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:1200656 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:1200657 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:1200658 Nasu-Hakola disease skos:exactMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:ManualMappingCuration +NANDO:1200659 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:1200660 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:1200661 Joubert syndrome and related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:1200662 Arima syndrome skos:exactMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:ManualMappingCuration +NANDO:1200663 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:1200664 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:1200665 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:1200666 Crouzon's syndrome skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:1200667 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:1200669 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:1200670 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:1200671 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:ManualMappingCuration +NANDO:1200672 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0007029 branchio-oto-renal syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0018878 branchiootic syndrome semapv:ManualMappingCuration +NANDO:1200676 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:1200677 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:1200678 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:1200679 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:1200680 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:1200681 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:1200682 1p36 deletion syndrome skos:exactMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:ManualMappingCuration +NANDO:1200683 4p deletion syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:1200684 5p deletion syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:exactMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:ManualMappingCuration +NANDO:1200686 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:1200687 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200689 Emanuel syndrome skos:exactMatch MONDO:0012176 Emanuel syndrome semapv:ManualMappingCuration +NANDO:1200690 Fragile X syndrome related diseases skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200691 Fragile X tremor/ataxia syndrome skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200692 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:1200698 Corrected transposition of great arteries skos:exactMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200699 Complete transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200704 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:1200705 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:1200706 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:1200709 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:1200710 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:1200711 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:1200712 Alport's syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:1200713 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200718 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200719 Primary nephrotic syndrome skos:exactMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:ManualMappingCuration +NANDO:1200720 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:1200721 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:1200722 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:exactMatch MONDO:0019736 dense deposit disease semapv:ManualMappingCuration +NANDO:1200741 Henoch-Schonlein purpura nephritis skos:exactMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:ManualMappingCuration +NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:1200743 Interstitial cystitis (Hunner type) skos:exactMatch MONDO:0018301 interstitial cystitis semapv:ManualMappingCuration +NANDO:1200744 Osler disease skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:1200745 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:exactMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200750 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200752 Obesity hypoventilation syndrome skos:exactMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200753 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200755 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:1200756 Carney complex skos:exactMatch MONDO:0015285 Carney complex semapv:ManualMappingCuration +NANDO:1200757 Wolfram syndrome skos:exactMatch MONDO:0018105 Wolfram syndrome semapv:ManualMappingCuration +NANDO:1200758 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:1200759 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:1200760 Zellweger syndrome skos:exactMatch MONDO:0019609 Zellweger spectrum disorders semapv:ManualMappingCuration +NANDO:1200761 Neonatal adrenoleukodystrophy skos:exactMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200762 Infantile Refsum disease skos:exactMatch MONDO:0019174 obsolete infantile Refsum disease semapv:ManualMappingCuration +NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:ManualMappingCuration +NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:exactMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:ManualMappingCuration +NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:ManualMappingCuration +NANDO:1200766 D-bifunctional protein deficiency skos:exactMatch MONDO:0009855 d-bifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200767 Sterol carrier protein 2 deficiency skos:exactMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:ManualMappingCuration +NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:exactMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:ManualMappingCuration +NANDO:1200769 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:exactMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:ManualMappingCuration +NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:ManualMappingCuration +NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:ManualMappingCuration +NANDO:1200773 Primary hyperoxaluria type 1 skos:exactMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:ManualMappingCuration +NANDO:1200774 Acatalasemia skos:exactMatch MONDO:0013571 acatalasia semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200776 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:ManualMappingCuration +NANDO:1200780 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:exactMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:ManualMappingCuration +NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:exactMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:ManualMappingCuration +NANDO:1200784 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200785 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200786 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:1200788 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:1200789 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:1200790 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:1200791 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:1200792 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:1200793 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:exactMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualMappingCuration +NANDO:1200795 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:1200796 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:1200797 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:1200798 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:1200800 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200801 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200802 Urea cycle disorder skos:exactMatch MONDO:0004739 urea cycle disorder semapv:ManualMappingCuration +NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:1200804 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:1200805 Classic citrullinemia skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:1200806 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:1200807 Argininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:1200808 NAGS deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:1200809 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:1200810 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:1200811 Porphyria skos:exactMatch MONDO:0037939 porphyria semapv:ManualMappingCuration +NANDO:1200812 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:1200813 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:1200814 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200816 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:1200818 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200819 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:1200820 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:1200821 Holocarboxylase synthetase deficiency skos:exactMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:ManualMappingCuration +NANDO:1200822 Biotinidase deficiency skos:exactMatch MONDO:0009665 biotinidase deficiency semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0016118 obsolete muscular glycogenosis semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200825 Glycogen storage diseases type II skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200826 Glycogen storage diseases type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0008222 Andersen-Tawil syndrome semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200828 Glycogen storage diseases type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:1200829 Glycogen storage diseases type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200830 Glycogen storage diseases type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:1200832 Glycogen storage diseases type X skos:exactMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:ManualMappingCuration +NANDO:1200833 Glycogen storage diseases type XI skos:exactMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:ManualMappingCuration +NANDO:1200834 Glycogen storage diseases type XII skos:exactMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:ManualMappingCuration +NANDO:1200835 Glycogen storage diseases type XIII skos:exactMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:ManualMappingCuration +NANDO:1200836 Glycogen storage diseases type XIV skos:exactMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:ManualMappingCuration +NANDO:1200837 Glycogen storage diseases type XV skos:exactMatch MONDO:0013291 glycogen storage disease XV semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0002412 disorder of glycogen metabolism semapv:ManualMappingCuration +NANDO:1200840 Hepatic glycogen storage disease type Ia skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:ManualMappingCuration +NANDO:1200844 Hepatic GSD type IIIc skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200846 Hepatic glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:1200847 Hepatic glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:1200848 Hepatic glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:1200849 Hepatic glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:1200850 Hepatic glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0009515 Norum disease semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0018999 LCAT deficiency semapv:ManualMappingCuration +NANDO:1200853 Sitosterolemia skos:exactMatch MONDO:0008863 sitosterolemia semapv:ManualMappingCuration +NANDO:1200854 Tangier disease skos:exactMatch MONDO:0008783 Tangier disease semapv:ManualMappingCuration +NANDO:1200856 Cerebrotendinous xanthomatosis skos:exactMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:ManualMappingCuration +NANDO:1200857 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:1200858 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0006536 congenital generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:1200860 Acquired generalized lipodystrophy skos:exactMatch MONDO:0019193 acquired generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200861 Familial partial lipodystrophy skos:exactMatch MONDO:0020088 familial partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200862 Acquired partial lipodystrophy skos:exactMatch MONDO:0012104 acquired partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200863 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200864 Typical familial Mediterranean fever skos:exactMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0012481 mevalonic aciduria semapv:ManualMappingCuration +NANDO:1200867 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:1200870 Ankylosing spondylitis skos:exactMatch MONDO:0005306 ankylosing spondylitis semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:1200873 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:1200874 Thanatophoric dysplasia skos:exactMatch MONDO:0017042 thanatophoric dysplasia semapv:ManualMappingCuration +NANDO:1200875 Thanatophoric dysplasia type 1 skos:exactMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:ManualMappingCuration +NANDO:1200876 Thanatophoric dysplasia type 2 skos:exactMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:ManualMappingCuration +NANDO:1200877 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200879 obsolete Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:ManualMappingCuration +NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:1200885 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:1200886 Congenital dyserythropoietic anemia type I skos:exactMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:ManualMappingCuration +NANDO:1200887 Congenital dyserythropoietic anemia type II skos:exactMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:ManualMappingCuration +NANDO:1200888 Congenital dyserythropoietic anemia type III skos:exactMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:ManualMappingCuration +NANDO:1200890 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:1200891 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200893 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:exactMatch MONDO:0020599 acquired coagulation factor deficiency semapv:ManualMappingCuration +NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:exactMatch MONDO:0021133 acquired factor XIII deficiency semapv:ManualMappingCuration +NANDO:1200898 Acquired hemophilia A skos:exactMatch MONDO:0019139 acquired hemophilia semapv:ManualMappingCuration +NANDO:1200899 Acquired von Willebrand disease skos:exactMatch MONDO:0020460 acquired von willebrand syndrome semapv:ManualMappingCuration +NANDO:1200901 Cronkhite-Canada syndrome skos:exactMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:ManualMappingCuration +NANDO:1200903 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:1200909 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200910 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200911 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:1200918 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200919 Typical Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200921 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:1200922 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1200923 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200924 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200925 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:1200928 IgG4-related sclerosing cholangitis skos:exactMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:ManualMappingCuration +NANDO:1200930 IgG4-related kidney disease skos:exactMatch MONDO:0018671 IgG4-related kidney disease semapv:ManualMappingCuration +NANDO:1200931 Macular dystrophy skos:exactMatch MONDO:0020242 hereditary macular dystrophy semapv:ManualMappingCuration +NANDO:1200932 Vitelliform macular dystrophy skos:exactMatch MONDO:0000390 vitelliform macular dystrophy semapv:ManualMappingCuration +NANDO:1200933 Stargardt disease skos:exactMatch MONDO:0019353 Stargardt disease semapv:ManualMappingCuration +NANDO:1200934 Occult macular dystrophy skos:exactMatch MONDO:0013316 occult macular dystrophy semapv:ManualMappingCuration +NANDO:1200936 Cone dystrophy skos:exactMatch MONDO:0000455 cone dystrophy semapv:ManualMappingCuration +NANDO:1200937 Cone-rod dystrophy skos:exactMatch MONDO:0015993 cone-rod dystrophy semapv:ManualMappingCuration +NANDO:1200938 X-linked juvenile retinoschisis skos:exactMatch MONDO:0010725 X-linked retinoschisis semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0004890 partial central choroid dystrophy semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0008982 central areolar choroidal dystrophy semapv:ManualMappingCuration +NANDO:1200940 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200941 Usher syndrome skos:exactMatch MONDO:0019501 Usher syndrome semapv:ManualMappingCuration +NANDO:1200942 Usher syndrome type I skos:exactMatch MONDO:0010168 Usher syndrome type 1 semapv:ManualMappingCuration +NANDO:1200943 Usher syndrome Type II skos:exactMatch MONDO:0016484 Usher syndrome type 2 semapv:ManualMappingCuration +NANDO:1200944 Usher syndrome Type III skos:exactMatch MONDO:0016485 Usher syndrome type 3 semapv:ManualMappingCuration +NANDO:1200948 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:1200951 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:ManualMappingCuration +NANDO:1200953 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:1200954 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:1200955 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:1200956 Benign adult familial myoclonus epilepsy skos:exactMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:ManualMappingCuration +NANDO:1200957 Congenital anomalies syndrome skos:exactMatch MONDO:0000839 obsolete congenital abnormality semapv:ManualMappingCuration +NANDO:1200958 Partial trisomy 1q skos:exactMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:ManualMappingCuration +NANDO:1200959 9q34 deletion syndrome skos:exactMatch MONDO:0012455 Kleefstra syndrome semapv:ManualMappingCuration +NANDO:1200960 Cornelia de lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:1200961 Smith-lemli-opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0019813 congenital tricuspid stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0020398 congenital mitral stenosis semapv:ManualMappingCuration +NANDO:1200964 Congenital pulmonary vein stenosis skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:1200967 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:1200969 Carnitine cycle disorders skos:exactMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:ManualMappingCuration +NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:1200973 Systemic primary carnitine deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:1200974 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200978 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:exactMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0016603 citrullinemia type II semapv:ManualMappingCuration +NANDO:1200982 Sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:ManualMappingCuration +NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:exactMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:ManualMappingCuration +NANDO:1200984 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:exactMatch MONDO:0017353 neonatal glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200986 Infantile nonketotic hyperglycinemia skos:exactMatch MONDO:0017354 infantile glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200987 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:1200989 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:1200990 3-methylglutaconic aciduria type I skos:exactMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:ManualMappingCuration +NANDO:1200991 3-methylglutaconicaciduria type II skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:1200992 3-methylglutaconic aciduria type III skos:exactMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:ManualMappingCuration +NANDO:1200994 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200996 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:1200997 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:1200998 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:1201000 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 anterior segment dysgenesis semapv:ManualMappingCuration +NANDO:1201001 Aniridia skos:exactMatch MONDO:0019172 aniridia semapv:ManualMappingCuration +NANDO:1201003 Congenital tracheal stenosis skos:exactMatch MONDO:0011340 congenital tracheal stenosis semapv:ManualMappingCuration +NANDO:1201004 Congenital subglottic stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:exactMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:ManualMappingCuration +NANDO:1201007 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:1201009 Systemic granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:exactMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0019563 CREST syndrome semapv:ManualMappingCuration +NANDO:1201018 Hepatic glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1201019 Hepatic glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1201020 Hepatic glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:1201021 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1201029 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:exactMatch MONDO:0004355 childhood leukemia semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:exactMatch MONDO:0005059 leukemia semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003659 pediatric lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003660 adult lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:exactMatch MONDO:0005062 lymphoma semapv:ManualMappingCuration +NANDO:2100005 Histiocytosis skos:exactMatch MONDO:0002637 histiocytosis semapv:ManualMappingCuration +NANDO:2100007 Central nervous system tumors skos:exactMatch MONDO:0002714 central nervous system cancer semapv:ManualMappingCuration +NANDO:2100008 Chronic kidney disease skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100009 Nephrotic syndrome skos:exactMatch MONDO:0005377 nephrotic syndrome semapv:ManualMappingCuration +NANDO:2100012 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2100015 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2100019 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2100020 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2100021 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0024327 chronic renal failure syndrome semapv:ManualMappingCuration +NANDO:2100027 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2100028 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2100031 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2100032 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2100034 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2100035 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2100036 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2100039 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2100040 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2100043 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2100044 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2100046 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2100049 Ventricular tachycardia skos:exactMatch MONDO:0005477 ventricular tachycardia semapv:ManualMappingCuration +NANDO:2100050 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2100051 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2100052 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2100053 Long QT syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2100054 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2100057 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2100058 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2100060 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2100061 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2100064 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2100070 Ischemic heart disease skos:exactMatch MONDO:0024644 myocardial ischemia semapv:ManualMappingCuration +NANDO:2100071 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2100073 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2100075 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2100076 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2100077 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2100079 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2100080 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2100082 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2100083 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2100084 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2100085 Atrial septal defect skos:exactMatch MONDO:0006664 atrial septal defect semapv:ManualMappingCuration +NANDO:2100086 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2100087 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2100090 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2100092 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2100093 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2100095 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2100098 Aortic stenosis skos:exactMatch MONDO:0004978 obsolete aortic stenosis semapv:ManualMappingCuration +NANDO:2100101 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2100103 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2100105 Valvular heart disease skos:exactMatch MONDO:0002869 heart valve disorder semapv:ManualMappingCuration +NANDO:2100109 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:2100110 Hypopituitarism skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:2100111 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2100112 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2100114 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2100115 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2100117 Diabetes insipidus skos:exactMatch MONDO:0004782 diabetes insipidus semapv:ManualMappingCuration +NANDO:2100119 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2100120 Hypothyroidism skos:exactMatch MONDO:0005420 hypothyroidism semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2100123 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100125 Autoimmune polyendocrinopathy skos:exactMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:ManualMappingCuration +NANDO:2100126 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2100131 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2100132 Hypoaldosteronism skos:exactMatch MONDO:0015900 hypoaldosteronism disease semapv:ManualMappingCuration +NANDO:2100133 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2100134 Congenital adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2100135 Precocious puberty skos:exactMatch MONDO:0000088 precocious puberty semapv:ManualMappingCuration +NANDO:2100138 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2100139 Hypergonadotropic hypogonadism skos:exactMatch MONDO:0005387 primary ovarian failure semapv:ManualMappingCuration +NANDO:2100140 Disorders of sex development skos:exactMatch MONDO:0002145 disorder of sexual differentiation semapv:ManualMappingCuration +NANDO:2100142 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2100144 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2100147 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2100148 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 multiple endocrine neoplasia semapv:ManualMappingCuration +NANDO:2100149 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2100151 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100152 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100154 Relapsing Polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2100156 Autoinflammatory disease skos:exactMatch MONDO:0019751 autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2100157 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100158 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100159 Inborn errors of metabolism skos:exactMatch MONDO:0019052 inborn errors of metabolism semapv:ManualMappingCuration +NANDO:2100160 Disorder of amino acid metabolism skos:exactMatch MONDO:0037871 amino acid metabolism disease semapv:ManualMappingCuration +NANDO:2100161 Disorder of organic acid metabolism skos:exactMatch MONDO:0045022 disorder of organic acid metabolism semapv:ManualMappingCuration +NANDO:2100162 Disorder of fatty-acid metabolism skos:exactMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0037792 carbohydrate metabolism disease semapv:ManualMappingCuration +NANDO:2100165 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:2100166 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:2100172 Connective tissue disorder skos:exactMatch MONDO:0003900 connective tissue disorder semapv:ManualMappingCuration +NANDO:2100174 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2100175 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:2100176 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2100177 Pure red cell aplasia skos:exactMatch MONDO:0001705 pure red-cell aplasia semapv:ManualMappingCuration +NANDO:2100178 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2100179 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2100180 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2100181 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2100183 Hereditary hemolytic anemia skos:exactMatch MONDO:0003689 familial hemolytic anemia semapv:ManualMappingCuration +NANDO:2100186 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2100187 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2100188 Thrombocytopenic purpura skos:exactMatch MONDO:0043768 thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100189 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100192 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2100193 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2100194 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2100197 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2100198 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2100200 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2100201 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2100202 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0015131 combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0021094 immunodeficiency disease semapv:ManualMappingCuration +NANDO:2100212 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2100213 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2100214 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2100216 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2100217 Brain malformation skos:exactMatch MONDO:0016054 cerebral malformation semapv:ManualMappingCuration +NANDO:2100218 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2100219 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2100220 Neurocutaneous syndrome skos:exactMatch MONDO:0042983 neurocutaneous syndrome semapv:ManualMappingCuration +NANDO:2100221 Progeroid syndromes skos:exactMatch MONDO:0015333 progeroid syndrome semapv:ManualMappingCuration +NANDO:2100223 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2100224 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2100226 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2100227 Craniosynostosis skos:exactMatch MONDO:0015469 craniosynostosis semapv:ManualMappingCuration +NANDO:2100228 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2100229 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0019079 proximal spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100233 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:2100234 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:2100235 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2100237 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:2100238 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2100239 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2100240 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2100241 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:ManualMappingCuration +NANDO:2100242 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2100244 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2100245 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2100246 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2100248 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2100250 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2100252 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2100255 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2100256 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2100257 Polyposis skos:exactMatch MONDO:0000147 polyposis semapv:ManualMappingCuration +NANDO:2100258 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2100259 Inflammatory bowel disease skos:exactMatch MONDO:0005265 inflammatory bowel disease semapv:ManualMappingCuration +NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2100264 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100267 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2100268 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2100272 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2100274 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2100279 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100280 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100281 Skin disease skos:exactMatch MONDO:0005093 skin disorder semapv:ManualMappingCuration +NANDO:2100283 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:2100284 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2100285 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2100286 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2100287 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2100290 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2100291 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100293 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100294 Vascular disease skos:exactMatch MONDO:0005385 vascular disorder semapv:ManualMappingCuration +NANDO:2100295 Vascular malformation skos:exactMatch MONDO:0024291 vascular malformation semapv:ManualMappingCuration +NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2100297 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:exactMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200003 T-cell lymphoblastic leukemia skos:exactMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:exactMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:ManualMappingCuration +NANDO:2200005 Acute myeloid leukemia without maturation skos:exactMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:ManualMappingCuration +NANDO:2200006 Acute myeloid leukemia with maturation skos:exactMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:ManualMappingCuration +NANDO:2200007 Acute promyelocytic leukemia skos:exactMatch MONDO:0012883 acute promyelocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200010 Acute erythremia skos:exactMatch MONDO:0017858 acute erythroid leukemia semapv:ManualMappingCuration +NANDO:2200011 Acute megakaryoblastic leukemia skos:exactMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:ManualMappingCuration +NANDO:2200012 NK cell leukemia skos:exactMatch MONDO:0019470 aggressive NK-cell leukemia semapv:ManualMappingCuration +NANDO:2200013 Chronic myeloid leukemia skos:exactMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200015 Juvenile myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0020321 acute undifferentiated leukemia semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0020743 mixed phenotype acute leukemia semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200020 Mature B-cell lymphoma skos:exactMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:2200021 Anaplastic large cell lymphoma skos:exactMatch MONDO:0020325 anaplastic large cell lymphoma semapv:ManualMappingCuration +NANDO:2200022 Precursor B lymphoblastic lymphoma skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200023 Precursor T lymphoblastic lymphoma skos:exactMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:ManualMappingCuration +NANDO:2200024 Hodgkin lymphoma skos:exactMatch MONDO:0004952 Hodgkins lymphoma semapv:ManualMappingCuration +NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:exactMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:ManualMappingCuration +NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:exactMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:ManualMappingCuration +NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:exactMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:exactMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0018310 Langerhans cell histiocytosis semapv:ManualMappingCuration +NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:exactMatch MONDO:0015540 hemophagocytic syndrome semapv:ManualMappingCuration +NANDO:2200034 Follicular dendritic cell sarcoma skos:exactMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200035 Interdigitating dendritic cell sarcoma skos:exactMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200036 Langerhans cell sarcoma skos:exactMatch MONDO:0019480 Langerhans cell sarcoma semapv:ManualMappingCuration +NANDO:2200037 Juvenile xanthogranuloma skos:exactMatch MONDO:0015534 juvenile xanthogranuloma semapv:ManualMappingCuration +NANDO:2200038 Erdheim-Chester disease skos:exactMatch MONDO:0018153 Erdheim-Chester disease semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:ManualMappingCuration +NANDO:2200040 Neuroblastoma skos:exactMatch MONDO:0005072 neuroblastoma semapv:ManualMappingCuration +NANDO:2200041 Ganglioneuroblastoma skos:exactMatch MONDO:0005035 ganglioneuroblastoma semapv:ManualMappingCuration +NANDO:2200042 Retinoblastoma skos:exactMatch MONDO:0008380 retinoblastoma semapv:ManualMappingCuration +NANDO:2200043 Wilms tumour skos:exactMatch MONDO:0019004 kidney Wilms tumor semapv:ManualMappingCuration +NANDO:2200044 Clear cell sarcoma of the kidney skos:exactMatch MONDO:0005006 clear cell sarcoma of kidney semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005086 renal cell carcinoma semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005549 renal cell adenocarcinoma semapv:ManualMappingCuration +NANDO:2200046 Hepatoblastoma skos:exactMatch MONDO:0018666 hepatoblastoma semapv:ManualMappingCuration +NANDO:2200047 Hepatocellular carcinoma skos:exactMatch MONDO:0007256 hepatocellular carcinoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0002623 pediatric osteosarcoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0009807 osteosarcoma semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2200050 Chondrosarcoma skos:exactMatch MONDO:0008977 chondrosarcoma semapv:ManualMappingCuration +NANDO:2200051 Chondroblastoma skos:exactMatch MONDO:0004997 chondroblastoma semapv:ManualMappingCuration +NANDO:2200052 Malignancy in giant cell tumour of bone skos:exactMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:ManualMappingCuration +NANDO:2200053 Ewing's sarcoma skos:exactMatch MONDO:0012817 Ewing sarcoma semapv:ManualMappingCuration +NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200056 Rhabdomyosarcoma skos:exactMatch MONDO:0005212 rhabdomyosarcoma semapv:ManualMappingCuration +NANDO:2200057 Malignant rhabdoid tumour skos:exactMatch MONDO:0002728 rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200058 Undifferentiated sarcoma skos:exactMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:ManualMappingCuration +NANDO:2200059 Desmoplastic small round cell tumors skos:exactMatch MONDO:0019373 desmoplastic small round cell tumor semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002676 adult fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002678 pediatric fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0005164 fibrosarcoma semapv:ManualMappingCuration +NANDO:2200061 Synovial sarcoma skos:exactMatch MONDO:0010434 synovial sarcoma semapv:ManualMappingCuration +NANDO:2200062 Clear cell sarcoma skos:exactMatch MONDO:0002926 clear cell sarcoma semapv:ManualMappingCuration +NANDO:2200063 Alveolar soft part sarcoma skos:exactMatch MONDO:0011655 alveolar soft part sarcoma semapv:ManualMappingCuration +NANDO:2200064 Leiomyosarcoma skos:exactMatch MONDO:0005058 leiomyosarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003585 adult liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003587 pediatric liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0005060 liposarcoma semapv:ManualMappingCuration +NANDO:2200066 Dysgerminoma skos:exactMatch MONDO:0003002 dysgerminoma semapv:ManualMappingCuration +NANDO:2200067 Embryonal carcinoma skos:exactMatch MONDO:0005440 embryonal carcinoma semapv:ManualMappingCuration +NANDO:2200068 Polyembryoma skos:exactMatch MONDO:0015863 polyembryoma semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0005744 yolk sac tumor semapv:ManualMappingCuration +NANDO:2200070 Choriocarcinoma skos:exactMatch MONDO:0005207 choriocarcinoma semapv:ManualMappingCuration +NANDO:2200071 Mixed germ cell tumour skos:exactMatch MONDO:0015864 mixed germ cell tumor semapv:ManualMappingCuration +NANDO:2200072 Sex-cord stromal tumour skos:exactMatch MONDO:0006055 sex cord-stromal tumor semapv:ManualMappingCuration +NANDO:2200073 Adrenocortical carcinoma skos:exactMatch MONDO:0006639 adrenal cortex carcinoma semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0002108 thyroid cancer semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0015075 thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2200076 Salivary grand carcinoma skos:exactMatch MONDO:0000521 salivary gland carcinoma semapv:ManualMappingCuration +NANDO:2200077 Malignant melanoma skos:exactMatch MONDO:0005105 melanoma semapv:ManualMappingCuration +NANDO:2200078 Pheochromocytoma skos:exactMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:ManualMappingCuration +NANDO:2200079 Malignant thymoma skos:exactMatch MONDO:0006451 thymic carcinoma semapv:ManualMappingCuration +NANDO:2200080 Pleuropulmonaryblastoma skos:exactMatch MONDO:0011014 pleuropulmonary blastoma semapv:ManualMappingCuration +NANDO:2200081 Bronchial tumour skos:exactMatch MONDO:0002807 bronchial neoplasm semapv:ManualMappingCuration +NANDO:2200082 Pancreatoblastoma skos:exactMatch MONDO:0019035 pancreatoblastoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0016691 pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200085 Diffuse astrocytoma skos:exactMatch MONDO:0016686 diffuse astrocytoma semapv:ManualMappingCuration +NANDO:2200086 Anaplastic astrocytoma skos:exactMatch MONDO:0016684 anaplastic astrocytoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0018177 glioblastoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0020690 adult glioblastoma semapv:ManualMappingCuration +NANDO:2200088 Ependymoma skos:exactMatch MONDO:0016698 ependymoma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002540 childhood oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002543 adult oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0016695 oligodendroglioma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002794 adult medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002797 childhood medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0007959 medulloblastoma semapv:ManualMappingCuration +NANDO:2200091 Craniopharyngioma skos:exactMatch MONDO:0018907 craniopharyngioma semapv:ManualMappingCuration +NANDO:2200092 Pineocytoma skos:exactMatch MONDO:0016723 pineocytoma semapv:ManualMappingCuration +NANDO:2200093 Choroid plexus papilloma skos:exactMatch MONDO:0009837 choroid plexus papilloma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:exactMatch MONDO:0003057 pediatric meningioma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:exactMatch MONDO:0016642 meningioma semapv:ManualMappingCuration +NANDO:2200095 Pituitary adenoma skos:exactMatch MONDO:0006373 pituitary gland adenoma semapv:ManualMappingCuration +NANDO:2200096 Ganglioglioma skos:exactMatch MONDO:0016733 ganglioglioma semapv:ManualMappingCuration +NANDO:2200097 Gangliocytoma skos:exactMatch MONDO:0016730 gangliocytoma semapv:ManualMappingCuration +NANDO:2200098 Chordoma skos:exactMatch MONDO:0008978 chordoma semapv:ManualMappingCuration +NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:exactMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200102 Malignant neurinoma skos:exactMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:ManualMappingCuration +NANDO:2200103 Neurinoma skos:exactMatch MONDO:0002546 schwannoma semapv:ManualMappingCuration +NANDO:2200104 Teratoma of the central nervous system skos:exactMatch MONDO:0002718 central nervous system teratoma semapv:ManualMappingCuration +NANDO:2200105 Mature teratoma skos:exactMatch MONDO:0003517 mature teratoma semapv:ManualMappingCuration +NANDO:2200106 Immature teratoma skos:exactMatch MONDO:0024746 immature teratoma semapv:ManualMappingCuration +NANDO:2200107 Teratoma with malignant transformation skos:exactMatch MONDO:0006444 teratoma with malignant transformation semapv:ManualMappingCuration +NANDO:2200108 Intracranial germ cell tumour skos:exactMatch MONDO:0004218 childhood germ cell brain tumor semapv:ManualMappingCuration +NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:exactMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:ManualMappingCuration +NANDO:2200112 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:2200113 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:2200114 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:2200116 Denys-Drash syndrome skos:exactMatch MONDO:0008682 Denys-Drash syndrome semapv:ManualMappingCuration +NANDO:2200117 Pierson syndrome skos:exactMatch MONDO:0012184 Pierson syndrome semapv:ManualMappingCuration +NANDO:2200118 Central nervous system malformation syndrome skos:exactMatch MONDO:0020022 central nervous system malformation semapv:ManualMappingCuration +NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2200120 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:2200121 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:2200122 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200125 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:2200126 Alport syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:2200127 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200128 Lupus nephritis skos:exactMatch MONDO:0005556 lupus nephritis semapv:ManualMappingCuration +NANDO:2200131 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200132 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:exactMatch MONDO:0007671 fibronectin glomerulopathy semapv:ManualMappingCuration +NANDO:2200134 Lipoprotein glomerulopathy skos:exactMatch MONDO:0012725 lipoprotein glomerulopathy semapv:ManualMappingCuration +NANDO:2200136 Tubulointerstitial nephritis skos:exactMatch MONDO:0001085 interstitial nephritis semapv:ManualMappingCuration +NANDO:2200137 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0019065 amyloidosis semapv:ManualMappingCuration +NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2200144 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2200145 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2200146 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2200152 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200153 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200154 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200155 Hypoplastic kidney skos:exactMatch MONDO:0019637 renal hypoplasia semapv:ManualMappingCuration +NANDO:2200156 Renal aplasia skos:exactMatch MONDO:0018470 renal agenesis semapv:ManualMappingCuration +NANDO:2200157 Potter syndrome skos:exactMatch MONDO:0001558 Potter sequence semapv:ManualMappingCuration +NANDO:2200158 Multicystic dysplastic kidney skos:exactMatch MONDO:0015988 multicystic dysplastic kidney semapv:ManualMappingCuration +NANDO:2200159 Oligomeganephronia skos:exactMatch MONDO:0016407 oligomeganephronia semapv:ManualMappingCuration +NANDO:2200161 Renal dysplasia skos:exactMatch MONDO:0019638 renal dysplasia semapv:ManualMappingCuration +NANDO:2200170 Medullary cystic kidney skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200171 Multilocular cysts of the kidney skos:exactMatch MONDO:0019983 multiloculated renal cyst semapv:ManualMappingCuration +NANDO:2200172 Simple renal cyst skos:exactMatch MONDO:0002473 cystic kidney disease semapv:ManualMappingCuration +NANDO:2200173 Medullary sponge kidney skos:exactMatch MONDO:0015268 medullary sponge kidney semapv:ManualMappingCuration +NANDO:2200176 Ureteropelvic junction obstruction skos:exactMatch MONDO:0007741 congenital hydronephrosis semapv:ManualMappingCuration +NANDO:2200177 Megacalycosis skos:exactMatch MONDO:0019639 congenital megacalycosis semapv:ManualMappingCuration +NANDO:2200178 Obstructive uropathy skos:exactMatch MONDO:0003330 urinary tract obstruction semapv:ManualMappingCuration +NANDO:2200179 Vesicoureteral reflux skos:exactMatch MONDO:0006007 vesicoureteral reflux semapv:ManualMappingCuration +NANDO:2200183 Ureteroceles skos:exactMatch MONDO:0008628 ureterocele semapv:ManualMappingCuration +NANDO:2200184 Megaureter skos:exactMatch MONDO:0018960 congenital primary megaureter semapv:ManualMappingCuration +NANDO:2200185 Prune belly syndrome skos:exactMatch MONDO:0007032 prune belly syndrome semapv:ManualMappingCuration +NANDO:2200187 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2200188 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:2200194 Tracheal stenosis skos:exactMatch MONDO:0002568 tracheal stenosis semapv:ManualMappingCuration +NANDO:2200195 Tracheomalacia skos:exactMatch MONDO:0019804 tracheomalacia semapv:ManualMappingCuration +NANDO:2200198 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2200199 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:2200200 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:2200202 Pulmonary alveolar microlithiasis skos:exactMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:ManualMappingCuration +NANDO:2200203 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200204 Kartagener syndrome skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200205 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2200206 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2200209 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2200210 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2200212 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2200213 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0000468 third-degree atrioventricular block semapv:ManualMappingCuration +NANDO:2200215 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2200216 Polymorphic ventricular premature beat skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:exactMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005479 atrial tachycardia semapv:ManualMappingCuration +NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200225 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200226 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2200227 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0019171 familial long QT syndrome semapv:ManualMappingCuration +NANDO:2200229 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2200231 Non-compaction of the ventricle skos:exactMatch MONDO:0018901 left ventricular noncompaction semapv:ManualMappingCuration +NANDO:2200232 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2200233 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0006779 heart aneurysm semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0015677 cardiac diverticulum semapv:ManualMappingCuration +NANDO:2200235 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2200236 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2200239 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:exactMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:ManualMappingCuration +NANDO:2200246 Stenosis or atresia of coronary artery skos:exactMatch MONDO:0006715 coronary stenosis semapv:ManualMappingCuration +NANDO:2200248 Myocardial infarction skos:exactMatch MONDO:0005068 myocardial infarction semapv:ManualMappingCuration +NANDO:2200249 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2200250 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:2200251 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:2200254 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2200256 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2200257 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2200258 Complete transposition of the great arteries skos:exactMatch MONDO:0000153 transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200259 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200260 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2200262 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2200263 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2200264 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020439 patent foramen ovale semapv:ManualMappingCuration +NANDO:2200267 Atrial septal defect, sinus venosus type skos:exactMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:ManualMappingCuration +NANDO:2200268 Incomplete atrioventricular septal defect skos:exactMatch MONDO:0015275 partial atrioventricular canal semapv:ManualMappingCuration +NANDO:2200269 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2200270 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2200271 Total anomalous pulmonary venous connection skos:exactMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200272 Partial anomalous pulmonary venous connection skos:exactMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200273 Pulmonary venous obstruction skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:2200274 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2200275 Double-chambered right ventricle skos:exactMatch MONDO:0016581 conotruncal heart malformations semapv:ManualMappingCuration +NANDO:2200276 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2200277 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200278 Supravalvular pulmonary stenosis skos:exactMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:ManualMappingCuration +NANDO:2200280 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:exactMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:ManualMappingCuration +NANDO:2200282 Unilateral absence of a pulmonary artery skos:exactMatch MONDO:0020007 absence of the pulmonary artery semapv:ManualMappingCuration +NANDO:2200283 Coarctation of the aorta skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200285 Supravalvular aortic stenosis skos:exactMatch MONDO:0008504 supravalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200286 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:2200288 Interruption of aortic arch complex skos:exactMatch MONDO:0009010 aortic arch interruption semapv:ManualMappingCuration +NANDO:2200290 Double aortic arch disease skos:exactMatch MONDO:0020413 encircling double aortic arch semapv:ManualMappingCuration +NANDO:2200293 Aneurysm of sinus valsalva skos:exactMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:ManualMappingCuration +NANDO:2200294 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2200295 Pulmonary arteriovenous fistulae skos:exactMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:ManualMappingCuration +NANDO:2200296 Coronary artery fistula skos:exactMatch MONDO:0016081 coronary arterial fistulas semapv:ManualMappingCuration +NANDO:2200298 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2200299 Chronic cor pulmonale skos:exactMatch MONDO:0001493 chronic pulmonary heart disease semapv:ManualMappingCuration +NANDO:2200300 Tricuspid valve stenosis skos:exactMatch MONDO:0005997 tricuspid valve stenosis semapv:ManualMappingCuration +NANDO:2200301 Tricuspid valve regurgitation skos:exactMatch MONDO:0002870 tricuspid valve insufficiency semapv:ManualMappingCuration +NANDO:2200302 Mitral valve stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:2200303 Mitral regurgitation skos:exactMatch MONDO:0001298 congenital mitral valve insufficiency semapv:ManualMappingCuration +NANDO:2200304 Pulmonary valve stenosis skos:exactMatch MONDO:0006936 pulmonary valve stenosis semapv:ManualMappingCuration +NANDO:2200305 Pulmonary valve regurgitation skos:exactMatch MONDO:0001927 pulmonary valve insufficiency semapv:ManualMappingCuration +NANDO:2200306 Aortic valve stenosis skos:exactMatch MONDO:0042981 aortic valve stenosis semapv:ManualMappingCuration +NANDO:2200307 Aortic valve regurgitation skos:exactMatch MONDO:0005648 aortic valve insufficiency semapv:ManualMappingCuration +NANDO:2200308 Supramitral ring skos:exactMatch MONDO:0020400 congenital supravalvular mitral ring semapv:ManualMappingCuration +NANDO:2200312 Congenital hypopituitarism skos:exactMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200313 Acquired hypopituitarism skos:exactMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200314 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2200315 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2200317 Congenital growth hormone deficiency skos:exactMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:ManualMappingCuration +NANDO:2200320 IGF1 insensitivity skos:exactMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:ManualMappingCuration +NANDO:2200321 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200322 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2200324 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:2200325 Adipsic hypernatremia skos:exactMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:ManualMappingCuration +NANDO:2200326 Nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:2200328 Basedow disease skos:exactMatch MONDO:0005364 Graves disease semapv:ManualMappingCuration +NANDO:2200329 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2200330 Ectoic thyroid skos:exactMatch MONDO:0019854 thyroid ectopia semapv:ManualMappingCuration +NANDO:2200331 Thyroid agenesis skos:exactMatch MONDO:0019855 athyreosis semapv:ManualMappingCuration +NANDO:2200332 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200333 Congenital hypothyroidism skos:exactMatch MONDO:0018612 congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200335 Hashimoto disease skos:exactMatch MONDO:0007699 Hashimoto thyroiditis semapv:ManualMappingCuration +NANDO:2200336 Atrophic thyroiditis skos:exactMatch MONDO:0005624 atrophic thyroiditis semapv:ManualMappingCuration +NANDO:2200340 Central hypothyroidism skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2200343 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:exactMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:ManualMappingCuration +NANDO:2200348 Pseudopseudohypoparathyroidism skos:exactMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200349 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200350 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:2200351 Ectopic ACTH syndrome skos:exactMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:ManualMappingCuration +NANDO:2200352 Adrenal adenoma skos:exactMatch MONDO:0003924 adrenal cortex adenoma semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200358 Glucocorticoid resistance skos:exactMatch MONDO:0014421 glucocorticoid resistance semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200361 Aldosteronism skos:exactMatch MONDO:0001422 primary aldosteronism semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2200363 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2200365 Aldosterone synthase deficiency skos:exactMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200367 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2200368 Pseudohypoaldosteronism type I skos:exactMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200369 Pseudohypoaldosteronism type II skos:exactMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:ManualMappingCuration +NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200372 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200373 17 alpha-hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200375 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:2200377 Gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0015791 peripheral precocious puberty semapv:ManualMappingCuration +NANDO:2200379 Hyperestrogenism skos:exactMatch MONDO:0001946 obsolete hyperestrogenism semapv:ManualMappingCuration +NANDO:2200380 Hyperandrogenism skos:exactMatch MONDO:0001324 obsolete hyperandrogenism semapv:ManualMappingCuration +NANDO:2200381 Kallmann syndrome skos:exactMatch MONDO:0018800 Kallmann syndrome semapv:ManualMappingCuration +NANDO:2200382 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2200383 Testicular dysgenesis skos:exactMatch MONDO:0005437 testicular dysgenesis syndrome semapv:ManualMappingCuration +NANDO:2200386 Klinefelter syndrome skos:exactMatch MONDO:0006823 Klinefelter syndrome semapv:ManualMappingCuration +NANDO:2200387 Ovotesticular dsd skos:exactMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0001969 mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:ManualMappingCuration +NANDO:2200391 Androgen insensitivity syndrome skos:exactMatch MONDO:0019154 androgen insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020040 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200394 Vipoma skos:exactMatch MONDO:0019960 VIPoma semapv:ManualMappingCuration +NANDO:2200395 Gastrinoma skos:exactMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0005369 carcinoid tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0006689 obsolete carcinoid syndrome semapv:ManualMappingCuration +NANDO:2200397 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2200398 Insulinoma skos:exactMatch MONDO:0024677 pancreatic insulinoma semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2200401 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2200402 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200403 Primary hypophosphatemic rickets skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200404 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2200405 Multiple endocrine neoplasia type 1 skos:exactMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:ManualMappingCuration +NANDO:2200408 Von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200409 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2200410 Turner syndrome skos:exactMatch MONDO:0019499 Turner syndrome semapv:ManualMappingCuration +NANDO:2200411 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:2200412 McCune-Albright syndrome skos:exactMatch MONDO:0018919 McCune-Albright syndrome semapv:ManualMappingCuration +NANDO:2200413 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:2200414 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 Bardet-Biedl syndrome semapv:ManualMappingCuration +NANDO:2200415 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2200416 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:2200418 Juvenile dermatomyositis skos:exactMatch MONDO:0008054 juvenile dermatomyositis semapv:ManualMappingCuration +NANDO:2200419 Juvenile polymyositis skos:exactMatch MONDO:0019734 juvenile polymyositis semapv:ManualMappingCuration +NANDO:2200420 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:2200421 Anti-phospholipid antibody syndrome skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:2200422 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:2200424 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200426 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200428 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2200429 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:2200430 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:2200431 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:2200432 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:2200435 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0017708 mevalonate kinase deficiency semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0004471 bacterial arthritis semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0018824 pyoderma gangrenosum semapv:ManualMappingCuration +NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:exactMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:ManualMappingCuration +NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200443 CARD14 deficiency skos:exactMatch MONDO:0011269 psoriasis 2 semapv:ManualMappingCuration +NANDO:2200444 Cherubism skos:exactMatch MONDO:0007315 cherubism semapv:ManualMappingCuration +NANDO:2200446 IL10 deficiency skos:exactMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:ManualMappingCuration +NANDO:2200447 IL-10RA deficiency skos:exactMatch MONDO:0013153 inflammatory bowel disease 28 semapv:ManualMappingCuration +NANDO:2200448 IL-10RB deficiency skos:exactMatch MONDO:0012941 inflammatory bowel disease 25 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200451 PLCg2 deficiency skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200452 IL36RN deficiency skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:2200453 Majeed syndrome skos:exactMatch MONDO:0012316 Majeed syndrome semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:ManualMappingCuration +NANDO:2200456 RBCK1 deficiency skos:exactMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:ManualMappingCuration +NANDO:2200457 SLC29A3 deficiency skos:exactMatch MONDO:0011273 H syndrome semapv:ManualMappingCuration +NANDO:2200458 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:2200460 Diabetes mellitus type 1 skos:exactMatch MONDO:0005147 type 1 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0005148 type 2 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2200462 Maturity-onset diabetes of the young skos:exactMatch MONDO:0018911 maturity-onset diabetes of the young semapv:ManualMappingCuration +NANDO:2200463 Neonatal diabetes mellitus skos:exactMatch MONDO:0016391 neonatal diabetes mellitus semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0005827 lipoatrophic diabetes semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:2200467 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2200468 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:2200469 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:2200470 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:2200471 Hyperprolinemia skos:exactMatch MONDO:0023419 hyperprolinemia semapv:ManualMappingCuration +NANDO:2200472 Prolidase deficiency skos:exactMatch MONDO:0008221 prolidase deficiency semapv:ManualMappingCuration +NANDO:2200473 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:2200474 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:2200475 Hypermethioninemia skos:exactMatch MONDO:0000351 disorder of methionine catabolism semapv:ManualMappingCuration +NANDO:2200476 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:2200477 N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:2200479 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200480 Argininosuccinate synthetase deficiency skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:2200481 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:2200482 Hyperargininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:2200483 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:2200484 Hyperornithinemia skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch MONDO:0009393 ornithine translocase deficiency semapv:ManualMappingCuration +NANDO:2200486 Gyrate atrophy of choroid and retina skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200487 Hartnup disease skos:exactMatch MONDO:0009324 Hartnup disease semapv:ManualMappingCuration +NANDO:2200488 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:2200489 Cystinuria skos:exactMatch MONDO:0009067 cystinuria semapv:ManualMappingCuration +NANDO:2200491 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:2200492 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:2200493 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:2200494 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200496 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:ManualMappingCuration +NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:ManualMappingCuration +NANDO:2200500 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200501 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200502 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200503 Primary hyperoxaluria skos:exactMatch MONDO:0002474 primary hyperoxaluria semapv:ManualMappingCuration +NANDO:2200504 Alkaptonuria skos:exactMatch MONDO:0008753 alkaptonuria semapv:ManualMappingCuration +NANDO:2200505 Glycerol kinase deficiency skos:exactMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:ManualMappingCuration +NANDO:2200506 Inborn errors of bile acid metabolism skos:exactMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:ManualMappingCuration +NANDO:2200508 Organic cation transporter 2 deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200515 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200519 Pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:ManualMappingCuration +NANDO:2200520 Fumarase deficiency skos:exactMatch MONDO:0011730 fumaric aciduria semapv:ManualMappingCuration +NANDO:2200522 Mitochondrial respiratory chain disorders skos:exactMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:ManualMappingCuration +NANDO:2200523 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:exactMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:ManualMappingCuration +NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:2200527 Leigh syndrome skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200529 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:2200531 Hereditary fructose intolerance skos:exactMatch MONDO:0009249 hereditary fructose intolerance semapv:ManualMappingCuration +NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:2200533 Galactokinase deficiency skos:exactMatch MONDO:0009255 galactokinase deficiency semapv:ManualMappingCuration +NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:exactMatch MONDO:0009257 galactose epimerase deficiency semapv:ManualMappingCuration +NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:exactMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:ManualMappingCuration +NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:ManualMappingCuration +NANDO:2200537 Glycogen synthase deficiency skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2200538 Glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:2200539 Glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:2200540 Glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:2200541 Glycogen storage disease type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:2200542 Glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:2200543 Glycogen storage disease type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:2200544 Glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:2200545 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:2200547 Mucopolysaccharidosis type I skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2200548 Mucopolysaccharidosis type II skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:2200549 Mucopolysaccharidosis type III skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:2200550 Mucopolysaccharidosis type IV skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:2200551 Mucopolysaccharidosis type VI skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:2200552 Mucopolysaccharidosis type VII skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:2200553 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:2200555 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:2200556 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:2200557 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:2200558 GM1 Gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:2200559 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:2200560 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:2200561 Niemann-Pick disease skos:exactMatch MONDO:0001982 Niemann-Pick disease semapv:ManualMappingCuration +NANDO:2200562 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:2200563 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:2200564 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:2200565 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:2200566 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:2200567 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:2200568 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:2200569 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:2200570 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2200571 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:2200572 Free Sialic Acid Storage Disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:2200573 Neuronal ceroid lipofuscinoses skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2200575 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:2200576 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:2200577 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:2200579 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:2200580 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:2200581 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:2200582 Aceruloplasminemia skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:2200583 Sulfite oxidase deficiency skos:exactMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:ManualMappingCuration +NANDO:2200584 Acrodermatitis enteropathica skos:exactMatch MONDO:0008713 acrodermatitis enteropathica semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:exactMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200588 Xanthinuria skos:exactMatch MONDO:0000721 xanthinuria semapv:ManualMappingCuration +NANDO:2200590 Orotic aciduria skos:exactMatch MONDO:0009797 orotic aciduria semapv:ManualMappingCuration +NANDO:2200592 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:2200594 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2200595 Tyrosine hydroxylase deficiency skos:exactMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:2200597 Dopamine beta hydroxylase deficiency skos:exactMatch MONDO:0009123 orthostatic hypotension 1 semapv:ManualMappingCuration +NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:exactMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:ManualMappingCuration +NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0005439 familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0016525 familial hyperaldosteronism semapv:ManualMappingCuration +NANDO:2200604 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0017773 hypoalphalipoproteinemia semapv:ManualMappingCuration +NANDO:2200607 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2200608 Lipoid proteinosis skos:exactMatch MONDO:0009530 lipoid proteinosis semapv:ManualMappingCuration +NANDO:2200611 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2200612 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2200614 Congenital red cell aplasia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:2200615 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2200616 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2200617 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2200618 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:2200619 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2200622 Hereditary spherocytosis skos:exactMatch MONDO:0019350 hereditary spherocytosis semapv:ManualMappingCuration +NANDO:2200623 Hereditary stomatocytosis skos:exactMatch MONDO:0020102 hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200624 Sickle cell disease skos:exactMatch MONDO:0011382 sickle cell anemia semapv:ManualMappingCuration +NANDO:2200625 Unstable hemoglobin disease skos:exactMatch MONDO:0020459 unstable hemoglobin disease semapv:ManualMappingCuration +NANDO:2200626 Thalassemia skos:exactMatch MONDO:0000984 thalassemia semapv:ManualMappingCuration +NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:exactMatch MONDO:0005775 G6PD deficiency semapv:ManualMappingCuration +NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:ManualMappingCuration +NANDO:2200630 Hereditary elliptocytosis skos:exactMatch MONDO:0017319 hereditary elliptocytosis semapv:ManualMappingCuration +NANDO:2200631 Hereditary pyropoikilocytosis skos:exactMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:ManualMappingCuration +NANDO:2200633 Stomatocytic xerocytosis skos:exactMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:exactMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:ManualMappingCuration +NANDO:2200635 Hemoglobin C disease skos:exactMatch MONDO:0016242 hemoglobin C disease semapv:ManualMappingCuration +NANDO:2200636 Hemolytic anemia skos:exactMatch MONDO:0003664 hemolytic anemia semapv:ManualMappingCuration +NANDO:2200637 Hypersplenism skos:exactMatch MONDO:0006795 hypersplenism semapv:ManualMappingCuration +NANDO:2200639 Disseminated intravascular coagulation skos:exactMatch MONDO:0001243 disseminated intravascular coagulation semapv:ManualMappingCuration +NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:exactMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:ManualMappingCuration +NANDO:2200641 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200643 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2200644 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2200645 Immune thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:exactMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:ManualMappingCuration +NANDO:2200648 Heparin-induced thrombocytopenia skos:exactMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:ManualMappingCuration +NANDO:2200649 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:ManualMappingCuration +NANDO:2200652 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:2200653 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2200654 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200655 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2200656 Bernard-Soulier syndrome skos:exactMatch MONDO:0009276 Bernard-Soulier syndrome semapv:ManualMappingCuration +NANDO:2200657 Thrombasthenia skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:exactMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:ManualMappingCuration +NANDO:2200661 Thrombocytopenia with absent radii skos:exactMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:ManualMappingCuration +NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:exactMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:ManualMappingCuration +NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:exactMatch MONDO:0008555 thrombocytopenia 2 semapv:ManualMappingCuration +NANDO:2200664 ITGA2B/ITGB3 mutations skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200665 ACTN1 mutations skos:exactMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:ManualMappingCuration +NANDO:2200667 β-1 tubulin disorders skos:exactMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:ManualMappingCuration +NANDO:2200668 Platelet-type von Willebrand disease skos:exactMatch MONDO:0008332 platelet-type von Willebrand disease semapv:ManualMappingCuration +NANDO:2200669 ADP receptor deficiencies skos:exactMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:ManualMappingCuration +NANDO:2200670 Abnormalities in platelet collagen receptors skos:exactMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:ManualMappingCuration +NANDO:2200671 Scott syndrome skos:exactMatch MONDO:0009885 Scott syndrome semapv:ManualMappingCuration +NANDO:2200674 Factor V deficiency skos:exactMatch MONDO:0020586 factor V deficiency semapv:ManualMappingCuration +NANDO:2200675 Factor VII deficiency skos:exactMatch MONDO:0002244 factor VII deficiency semapv:ManualMappingCuration +NANDO:2200676 Hemophilia A skos:exactMatch MONDO:0010602 hemophilia A semapv:ManualMappingCuration +NANDO:2200677 Hemophilia B skos:exactMatch MONDO:0010604 hemophilia B semapv:ManualMappingCuration +NANDO:2200678 Factor X deficiency skos:exactMatch MONDO:0002247 factor X deficiency semapv:ManualMappingCuration +NANDO:2200679 Factor XI deficiency skos:exactMatch MONDO:0020587 factor XI deficiency semapv:ManualMappingCuration +NANDO:2200680 Factor XII deficiency skos:exactMatch MONDO:0009315 congenital factor XII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0002241 factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0018029 congenital factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200682 Von Willebrand disease skos:exactMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0012901 inherited prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0044744 prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200685 High molecular weight kininogen deficiency skos:exactMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:ManualMappingCuration +NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:exactMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:ManualMappingCuration +NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:exactMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:exactMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:ManualMappingCuration +NANDO:2200689 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2200690 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2200692 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2200693 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2200694 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:2200695 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:2200696 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:2200697 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:2200699 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:2200701 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:2200702 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:2200704 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:2200705 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:2200706 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:2200707 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:2200708 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:2200710 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:2200711 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:2200713 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:2200715 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:2200716 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:2200717 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:2200718 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:2200719 Isolated IgG subclass deficiency skos:exactMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:ManualMappingCuration +NANDO:2200720 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:2200724 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:2200725 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200728 Perforin deficiency skos:exactMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:ManualMappingCuration +NANDO:2200729 UNC13D/Munc13-4 deficiency skos:exactMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:ManualMappingCuration +NANDO:2200730 Syntaxin 11 deficiency skos:exactMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:ManualMappingCuration +NANDO:2200731 STXBP2/Munc18-2 deficiency skos:exactMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:ManualMappingCuration +NANDO:2200732 Griscelli syndrome type 2 skos:exactMatch MONDO:0011872 Griscelli syndrome type 2 semapv:ManualMappingCuration +NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:exactMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:ManualMappingCuration +NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:exactMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:ManualMappingCuration +NANDO:2200735 CD27 deficiency skos:exactMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:ManualMappingCuration +NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:ManualMappingCuration +NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:ManualMappingCuration +NANDO:2200740 Caspase-8 deficiency skos:exactMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:ManualMappingCuration +NANDO:2200741 Fas-associated death domain protein deficiency skos:exactMatch MONDO:0013408 FADD-related immunodeficiency semapv:ManualMappingCuration +NANDO:2200743 PKC-δ deficiency skos:exactMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:ManualMappingCuration +NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:exactMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:ManualMappingCuration +NANDO:2200745 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200746 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:exactMatch MONDO:0011405 poikiloderma with neutropenia semapv:ManualMappingCuration +NANDO:2200750 Cohen syndrome skos:exactMatch MONDO:0008999 Cohen syndrome semapv:ManualMappingCuration +NANDO:2200751 Barth syndrome skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:2200752 P14 deficiency skos:exactMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:ManualMappingCuration +NANDO:2200753 X linked severe congenital neutropenia skos:exactMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200754 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2200755 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:2200756 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:2200757 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:2200758 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:2200762 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:2200763 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:2200764 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:2200766 HOIL-1 deficiency skos:exactMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualMappingCuration +NANDO:2200767 WHIM syndrome skos:exactMatch MONDO:0008674 obsolete WHIM syndrome semapv:ManualMappingCuration +NANDO:2200768 Epidermodysplasia verruciformis skos:exactMatch MONDO:0009176 epidermodysplasia verruciformis semapv:ManualMappingCuration +NANDO:2200770 STAT2 deficiency skos:exactMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:ManualMappingCuration +NANDO:2200771 MCM4 mutation skos:exactMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200772 Herpes simplex encephalitis skos:exactMatch MONDO:0012521 herpes simplex encephalitis semapv:ManualMappingCuration +NANDO:2200774 Trypanosomiasis skos:exactMatch MONDO:0000940 trypanosomiasis semapv:ManualMappingCuration +NANDO:2200775 Isolated congenital asplenia skos:exactMatch MONDO:0010066 familial isolated congenital asplenia semapv:ManualMappingCuration +NANDO:2200776 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:2200777 C1q deficiency skos:exactMatch MONDO:0013343 C1Q deficiency semapv:ManualMappingCuration +NANDO:2200779 C1s deficiency skos:exactMatch MONDO:0013419 complement component C1s deficiency semapv:ManualMappingCuration +NANDO:2200781 C2 deficiency skos:exactMatch MONDO:0009006 complement component 2 deficiency semapv:ManualMappingCuration +NANDO:2200782 C3 deficiency skos:exactMatch MONDO:0013417 complement component 3 deficiency semapv:ManualMappingCuration +NANDO:2200783 C5 deficiency skos:exactMatch MONDO:0012295 complement component 5 deficiency semapv:ManualMappingCuration +NANDO:2200784 C6 deficiency skos:exactMatch MONDO:0012908 complement component 6 deficiency semapv:ManualMappingCuration +NANDO:2200785 C7 deficiency skos:exactMatch MONDO:0012412 complement component 7 deficiency semapv:ManualMappingCuration +NANDO:2200787 C9 deficiency skos:exactMatch MONDO:0013445 complement component 9 deficiency semapv:ManualMappingCuration +NANDO:2200789 Properdin deficiency skos:exactMatch MONDO:0010713 properdin deficiency, X-linked semapv:ManualMappingCuration +NANDO:2200791 Factor H deficiency skos:exactMatch MONDO:0012350 complement factor H deficiency semapv:ManualMappingCuration +NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:exactMatch MONDO:0017398 3MC syndrome semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:2200797 Factor B deficiency skos:exactMatch MONDO:0014255 complement factor b deficiency semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:ManualMappingCuration +NANDO:2200803 CD46 deficiency skos:exactMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:ManualMappingCuration +NANDO:2200804 Primary CD59 deficiency skos:exactMatch MONDO:0012858 primary CD59 deficiency semapv:ManualMappingCuration +NANDO:2200805 Hyper eosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200806 Hypereosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200807 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:2200808 Chronic active EB virus infection skos:exactMatch MONDO:0009194 immunodeficiency 32B semapv:ManualMappingCuration +NANDO:2200809 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2200810 HIV infection skos:exactMatch MONDO:0005109 HIV infectious disease semapv:ManualMappingCuration +NANDO:2200812 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2200813 Meningoencephalocele skos:exactMatch MONDO:0017079 meningoencephalocele semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2200815 Spinal lipoma skos:exactMatch MONDO:0001790 spinal cord lipoma semapv:ManualMappingCuration +NANDO:2200816 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2200817 Lissencephaly skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:2200818 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:2200819 Holoprosencephaly skos:exactMatch MONDO:0016296 holoprosencephaly semapv:ManualMappingCuration +NANDO:2200820 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:2200821 Dandy-Walker syndrome skos:exactMatch MONDO:0009072 Dandy-Walker syndrome semapv:ManualMappingCuration +NANDO:2200822 Congenital hydrocephalus skos:exactMatch MONDO:0016349 congenital hydrocephalus semapv:ManualMappingCuration +NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:exactMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualMappingCuration +NANDO:2200824 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2200825 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:2200827 Neurocutaneous melanosis skos:exactMatch MONDO:0009578 neurocutaneous melanocytosis semapv:ManualMappingCuration +NANDO:2200828 Gorlin syndrome skos:exactMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:ManualMappingCuration +NANDO:2200829 von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200830 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:2200831 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:2200832 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:2200833 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:2200834 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:2200835 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:2200838 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:2200839 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2200840 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2200842 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2200843 Non-syndromic craniosynostosis skos:exactMatch MONDO:0015337 isolated craniosynostosis semapv:ManualMappingCuration +NANDO:2200844 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:2200845 Crouzon disease skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:2200847 Carpenter syndrome skos:exactMatch MONDO:0019012 Carpenter syndrome semapv:ManualMappingCuration +NANDO:2200848 Saethre-Chotzen syndrome skos:exactMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:ManualMappingCuration +NANDO:2200850 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2200851 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:exactMatch MONDO:0002327 intracranial cavernous angioma semapv:ManualMappingCuration +NANDO:2200853 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:2200856 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:2200858 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:exactMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:ManualMappingCuration +NANDO:2200862 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:2200864 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:2200865 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:2200866 LMNA-related congenital muscular dystrophy skos:exactMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:2200868 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:2200869 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:2200870 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:2200871 Multicore disease skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:2200875 Reducing body myopathy skos:exactMatch MONDO:0019948 reducing body myopathy semapv:ManualMappingCuration +NANDO:2200876 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2200877 Severe myoclonic epilepsy in infancy skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:2200878 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:2200879 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:2200880 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:2200881 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:2200882 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2200883 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200884 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2200885 Segawa syndrome skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:2200887 Infantile neuroaxonal dystrophy skos:exactMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:ManualMappingCuration +NANDO:2200888 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2200889 Congenital herpes simplex virus infection skos:exactMatch MONDO:0017381 congenital herpes simplex virus infection semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0005713 obsolete MONDO:0005713 semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0017361 congenital rubella syndrome semapv:ManualMappingCuration +NANDO:2200891 Congenital cytomegalovirus infection skos:exactMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:ManualMappingCuration +NANDO:2200892 Congenital toxoplasmosis skos:exactMatch MONDO:0005715 congenital toxoplasmosis semapv:ManualMappingCuration +NANDO:2200893 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:exactMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:ManualMappingCuration +NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:exactMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:ManualMappingCuration +NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:exactMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:ManualMappingCuration +NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:exactMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:ManualMappingCuration +NANDO:2200899 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2200900 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2200902 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2200904 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2200906 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2200907 Lactose intolerance skos:exactMatch MONDO:0009116 obsolete lactose intolerance semapv:ManualMappingCuration +NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:exactMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:ManualMappingCuration +NANDO:2200909 Glucose-galactose malabsorption skos:exactMatch MONDO:0011731 glucose-galactose malabsorption semapv:ManualMappingCuration +NANDO:2200910 Enterokinase deficiency skos:exactMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:ManualMappingCuration +NANDO:2200911 Amylase deficiency skos:exactMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:ManualMappingCuration +NANDO:2200912 Lipase deficiency skos:exactMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:ManualMappingCuration +NANDO:2200913 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2200914 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2200915 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 classic familial adenomatous polyposis semapv:ManualMappingCuration +NANDO:2200916 Juvenile polyposis skos:exactMatch MONDO:0017380 juvenile polyposis syndrome semapv:ManualMappingCuration +NANDO:2200917 Peutz-Jeghers syndrome skos:exactMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:ManualMappingCuration +NANDO:2200918 Cowden syndrome skos:exactMatch MONDO:0016063 Cowden disease semapv:ManualMappingCuration +NANDO:2200919 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2200920 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:2200921 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:2200923 Autoimmune enteropathy skos:exactMatch MONDO:0019787 autoimmune enteropathy semapv:ManualMappingCuration +NANDO:2200924 IPEX syndrome skos:exactMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualMappingCuration +NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:2200931 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:2200933 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:exactMatch MONDO:0010913 Caroli disease semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:exactMatch MONDO:0018808 Caroli syndrome semapv:ManualMappingCuration +NANDO:2200936 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2200937 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2200941 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2200942 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:2200943 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:2200944 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2200945 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200950 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200951 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200952 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:2200953 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:2200954 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:2200955 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:2200956 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:2200957 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:2200958 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:2200959 Beckwith-Wiedemann syndrome skos:exactMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:ManualMappingCuration +NANDO:2200960 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:2200961 5p- syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:2200962 4p- Syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:2200963 Trisomy 18 skos:exactMatch MONDO:0018071 trisomy 18 semapv:ManualMappingCuration +NANDO:2200964 Trisomy 13 skos:exactMatch MONDO:0018068 trisomy 13 semapv:ManualMappingCuration +NANDO:2200965 Down syndrome skos:exactMatch MONDO:0008608 Down syndrome semapv:ManualMappingCuration +NANDO:2200967 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:2200968 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:2200969 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 Loeys-Dietz syndrome semapv:ManualMappingCuration +NANDO:2200970 Camurati-Engelmann disease skos:exactMatch MONDO:0007542 Camurati-Engelmann disease semapv:ManualMappingCuration +NANDO:2200971 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:2200972 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:2200973 Hallermann-Streiff syndrome skos:exactMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:ManualMappingCuration +NANDO:2200974 Incontinentia pigmenti skos:exactMatch MONDO:0010631 incontinentia pigmenti semapv:ManualMappingCuration +NANDO:2200975 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:2200977 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:exactMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:ManualMappingCuration +NANDO:2200979 Smith-Lemli-Opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:2200980 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:2200981 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:2200982 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:2200983 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:2200984 MECP2 duplication syndrome skos:exactMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:ManualMappingCuration +NANDO:2200985 Takenouchi-Kosaki syndrome skos:exactMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:ManualMappingCuration +NANDO:2200986 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:2200987 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200990 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200991 Autosomal recessive congenital ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:2200992 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:2200993 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:2200994 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:2200998 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:exactMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:ManualMappingCuration +NANDO:2201000 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201001 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2201002 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2201005 Anhidrotic ectodermal dysplasia skos:exactMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:ManualMappingCuration +NANDO:2201006 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2201007 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:2201008 Thoracic insufficiency syndrome skos:exactMatch MONDO:0015929 thoracic malformation semapv:ManualMappingCuration +NANDO:2201009 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:2201010 Hypochondroplasia skos:exactMatch MONDO:0007793 hypochondroplasia semapv:ManualMappingCuration +NANDO:2201011 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:2201012 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:2201013 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:2201014 Multiple cartilaginous exostosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0016068 fibrochondrogenesis semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0022800 type 2 collagenopathy semapv:ManualMappingCuration +NANDO:2201017 Chondrodysplasia punctata skos:exactMatch MONDO:0019701 chondrodysplasia punctata semapv:ManualMappingCuration +NANDO:2201018 Pseudoachondroplasia skos:exactMatch MONDO:0008322 pseudoachondroplasia semapv:ManualMappingCuration +NANDO:2201019 Larsen syndrome skos:exactMatch MONDO:0007875 Larsen syndrome semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:exactMatch MONDO:0018240 TRPV4-related bone disorder semapv:ManualMappingCuration +NANDO:2201022 Osteosclerotic diseases skos:exactMatch MONDO:0002933 osteosclerosis semapv:ManualMappingCuration +NANDO:2201023 Pycnodysostosis skos:exactMatch MONDO:0009940 pycnodysostosis semapv:ManualMappingCuration +NANDO:2201024 Osteopoikilosis skos:exactMatch MONDO:0001414 osteopoikilosis semapv:ManualMappingCuration +NANDO:2201026 Beals syndrome skos:exactMatch MONDO:0007363 congenital contractural arachnodactyly semapv:ManualMappingCuration +NANDO:2201027 Blue rubber bleb nevus syndrome skos:exactMatch MONDO:0007203 blue rubber bleb nevus semapv:ManualMappingCuration +NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:2201031 Primary lymphedema skos:exactMatch MONDO:0019175 primary lymphedema semapv:ManualMappingCuration +NANDO:2201032 Lymphangioma skos:exactMatch MONDO:0002013 lymphangioma semapv:ManualMappingCuration +NANDO:2201033 Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2201035 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2201038 Bilateral retinoblastoma skos:exactMatch MONDO:0003075 bilateral retinoblastoma semapv:ManualMappingCuration +NANDO:2201040 Bronchomalacia skos:exactMatch MONDO:0008888 Williams-Campbell syndrome semapv:ManualMappingCuration +NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:exactMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201047 Familial pulmonary arterial hypertension skos:exactMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201048 Secondary pulmonary arterial hypertension skos:exactMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:ManualMappingCuration +NANDO:2201050 Familial central diabetes insipidus skos:exactMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:ManualMappingCuration +NANDO:2201052 Multiple endocrine neoplasia type 2A skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2201053 Multiple endocrine neoplasia type 2B skos:exactMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:ManualMappingCuration +NANDO:2201054 Medullary thyroid carcinoma skos:exactMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2201055 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:ManualMappingCuration +NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:exactMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:exactMatch MONDO:0011849 psoriatic arthritis semapv:ManualMappingCuration +NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:exactMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:2201067 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:2201068 familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:exactMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:ManualMappingCuration +NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:exactMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:ManualMappingCuration +NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:exactMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:ManualMappingCuration +NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:exactMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:ManualMappingCuration +NANDO:2201075 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2201076 BH4 deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:2201078 Classic form maple syrup urine disease skos:exactMatch MONDO:0017051 classic maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201079 Intermediate maple syrup urine disease skos:exactMatch MONDO:0017052 intermediate maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201080 Intermittent maple syrup urine disease skos:exactMatch MONDO:0017053 intermittent maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:exactMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:ManualMappingCuration +NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016601 adult-onset citrullinemia type I semapv:ManualMappingCuration +NANDO:2201105 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:2201106 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:2201108 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:2201109 Methylcobalamin deficiency cblE type skos:exactMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:ManualMappingCuration +NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:exactMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0021915 arakawa syndrome 2 semapv:ManualMappingCuration +NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:ManualMappingCuration +NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2201151 Glycogen storage disease type 0a skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201152 Glycogen storage disease type 0b skos:exactMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201153 Glycogen storage disease type 1a skos:exactMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:ManualMappingCuration +NANDO:2201154 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:exactMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:ManualMappingCuration +NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:exactMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:ManualMappingCuration +NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:exactMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:ManualMappingCuration +NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:exactMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:ManualMappingCuration +NANDO:2201163 Glycogen storage disease type IV, adult form skos:exactMatch MONDO:0009897 adult polyglucosan body disease semapv:ManualMappingCuration +NANDO:2201164 Glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:2201165 Glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:2201166 Glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:2201167 Glycogen storage disease type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:2201169 Scheie disease skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:2201170 Hurler-Scheie disease skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:2201174 Mucopolysaccharidosis type III A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:2201175 Mucopolysaccharidosis type III B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:2201176 Mucopolysaccharidosis type III C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:2201177 Mucopolysaccharidosis type III D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:2201178 Mucopolysaccharidosis type IV A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:2201179 Mucopolysaccharidosis type IV B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:2201189 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:2201190 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:2201191 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:2201192 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201193 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201196 GM1 gangliosidosis, infantile form skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:2201197 GM1 gangliosidosis, juvenile form skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:2201198 GM1 gangliosidosis, adult form skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:2201199 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:2201200 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:2201201 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:2201204 Metachromatic leukodystrophy, adult form skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:2201205 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:2201206 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:2201207 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:2201210 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:2201211 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:2201212 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:2201216 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:2201219 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:2201229 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:2201232 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2201233 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201235 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201236 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:2201237 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:2201238 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201248 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:2201255 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:2201263 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:2201264 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:2201265 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:2201267 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:2201269 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201270 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:2201273 α-thalassemia skos:exactMatch MONDO:0011399 alpha thalassemia semapv:ManualMappingCuration +NANDO:2201274 β-thalassemia skos:exactMatch MONDO:0019402 beta thalassemia semapv:ManualMappingCuration +NANDO:2201275 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:2201276 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:ManualMappingCuration +NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:ManualMappingCuration +NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:ManualMappingCuration +NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:ManualMappingCuration +NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:ManualMappingCuration +NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2201288 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:2201289 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:2201291 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:2201292 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:2201294 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:2201296 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:2201299 AGAT deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:2201300 GAMT deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:2201301 SLC6A8 deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:exactMatch MONDO:0018112 isolated scaphocephaly semapv:ManualMappingCuration +NANDO:2201305 Non-syndromic metopic craniosynostosis skos:exactMatch MONDO:0018065 isolated trigonocephaly semapv:ManualMappingCuration +NANDO:2201317 Anti-NMDA receptor encephalitis skos:exactMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:ManualMappingCuration +NANDO:2201319 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:2201320 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201321 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201322 Neuromyelitis optica skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:2201341 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201342 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201343 Dystrophic epidermolysis bullosa skos:exactMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008702 achondrogenesis type II semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0019669 hypochondrogenesis semapv:ManualMappingCuration +NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:exactMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:ManualMappingCuration +NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:ManualMappingCuration +NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualMappingCuration +NANDO:2201350 Kniest dysplasia skos:exactMatch MONDO:0007987 Kniest dysplasia semapv:ManualMappingCuration +NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:exactMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:ManualMappingCuration +NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:ManualMappingCuration +NANDO:2201354 Stickler syndrome type 1 skos:exactMatch MONDO:0007160 Stickler syndrome type 1 semapv:ManualMappingCuration +NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:2201358 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:ManualMappingCuration +NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201361 Greenberg dysplasia skos:exactMatch MONDO:0008974 Greenberg dysplasia semapv:ManualMappingCuration +NANDO:2201362 Astley-Kendall dysplasia skos:exactMatch MONDO:0019408 Astley-Kendall dysplasia semapv:ManualMappingCuration +NANDO:2201364 Melorheostosis skos:exactMatch MONDO:0007970 melorheostosis semapv:ManualMappingCuration +NANDO:2201365 Dysosteosclerosis skos:exactMatch MONDO:0009138 dysosteosclerosis semapv:ManualMappingCuration +NANDO:2201366 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 craniometaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201367 Metaphyseal dysplasias skos:exactMatch MONDO:0009943 Pyle disease semapv:ManualMappingCuration +NANDO:2201368 Craniodiaphyseal dysplasia skos:exactMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201369 Sclerosteosis skos:exactMatch MONDO:0017838 sclerosteosis semapv:ManualMappingCuration +NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:ManualMappingCuration +NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:ManualMappingCuration +NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0009326 congenital heart block semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0019328 macrocystic lymphatic malformation semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0007099 familial visceral amyloidosis semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0007879 larynx atresia semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0015446 atypical coarctation of aorta semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200174 Chronic progressive external ophthalmoplegia skos:exactMatch MONDO:0005181 progressive external ophthalmoplegia semapv:ManualMappingCuration +NANDO:1201032 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:1201035 Creatine transporter deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:exactMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:ManualMappingCuration +NANDO:1201038 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:1201039 Homocystinuria type 1 skos:exactMatch MONDO:0009352 classic homocystinuria semapv:ManualMappingCuration +NANDO:1201040 Homocystinuria type 2 skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:1201041 Homocystinuria type 3 skos:exactMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:ManualMappingCuration +NANDO:1201042 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:ManualMappingCuration +NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:ManualMappingCuration +NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:ManualMappingCuration +NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:ManualMappingCuration +NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:ManualMappingCuration +NANDO:1201048 Acquired factor X inhibitor skos:exactMatch MONDO:0021134 acquired factor X deficiency semapv:ManualMappingCuration +NANDO:1201049 Senior-Loken syndrome skos:exactMatch MONDO:0017842 Senior-Loken syndrome semapv:ManualMappingCuration +NANDO:1201050 COACH syndrome skos:exactMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:ManualMappingCuration +NANDO:1201051 Oral-facial-digital syndrome skos:exactMatch MONDO:0015375 orofaciodigital syndrome semapv:ManualMappingCuration +NANDO:1201056 End-plate acetylcholine esterase deficiency skos:exactMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:ManualMappingCuration +NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:exactMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:ManualMappingCuration +NANDO:1201058 RAPADILINO syndrome skos:exactMatch MONDO:0009955 rapadilino syndrome semapv:ManualMappingCuration +NANDO:1201059 Baller-Gerold syndrome skos:exactMatch MONDO:0009039 Baller-Gerold syndrome semapv:ManualMappingCuration +NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:exactMatch MONDO:0019731 AApoAI amyloidosis semapv:ManualMappingCuration +NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:exactMatch MONDO:0007097 Finnish type amyloidosis semapv:ManualMappingCuration +NANDO:1201064 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:exactMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201070 Subcortical band heterotopia skos:exactMatch MONDO:0020491 subcortical band heterotopia semapv:ManualMappingCuration +NANDO:1201079 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 periventricular nodular heterotopia semapv:ManualMappingCuration +NANDO:1201071 Polymicrogyria skos:exactMatch MONDO:0000087 polymicrogyria semapv:ManualMappingCuration +NANDO:1201072 Cobblestone brain malformation skos:exactMatch MONDO:0018869 cobblestone lissencephaly semapv:ManualMappingCuration +NANDO:1201073 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:1201074 Porencephaly skos:exactMatch MONDO:0017410 porencephaly semapv:ManualMappingCuration +NANDO:1201080 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:1201081 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:1201083 Miller Dieker syndrome skos:exactMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:ManualMappingCuration +NANDO:1201075 Pseudohypoparathyroidism type 1A skos:exactMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:ManualMappingCuration +NANDO:1201076 Pseudohypoparathyroidism type 1B skos:exactMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:ManualMappingCuration +NANDO:1201077 Pseudohypoparathyroidism type 1C skos:exactMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:ManualMappingCuration +NANDO:1201078 Pseudohypoparathyroidism type 2 skos:exactMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:ManualMappingCuration +NANDO:2201385 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200892 Hereditary sideroblastic anemia skos:exactMatch MONDO:0020099 inherited sideroblastic anemia semapv:ManualMappingCuration +NANDO:1200079 Late infantile metachromatic leukodystrophy skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:1200081 Adult metachromatic leukodystrophy skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:1200428 Pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200480 Minicore myopathy skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:1200568 Focal cortical dysplasia type 2a skos:exactMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:ManualMappingCuration +NANDO:1200569 Focal cortical dysplasia type 2b skos:exactMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:ManualMappingCuration +NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200693 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:1200751 Alveolar hypoventilation syndrome skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:1200817 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:1200831 Phosphoglycerate kinase deficiency skos:exactMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:ManualMappingCuration +NANDO:1200889 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:1200995 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200054 Primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200111 Diffuse mesangial sclerosis skos:exactMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:ManualMappingCuration +NANDO:2200197 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2200261 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:exactMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200374 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200384 Ovarian dysgenesis skos:exactMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200389 5 alpha-reductase deficiency skos:exactMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:ManualMappingCuration +NANDO:2200425 Polyangiitis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:2200441 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200450 Deficiency of the enzyme ADA2 skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200459 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200603 Familial combined hyperlipidemia skos:exactMatch MONDO:0001336 familial hyperlipidemia semapv:ManualMappingCuration +NANDO:2200610 Congenital porphyria skos:exactMatch MONDO:0019142 inherited porphyria semapv:ManualMappingCuration +NANDO:2200613 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:2200672 Afibrinogenemia skos:exactMatch MONDO:0008737 congenital afibrinogenemia semapv:ManualMappingCuration +NANDO:2200673 Hypoprothrombinemia skos:exactMatch MONDO:0013361 congenital prothrombin deficiency semapv:ManualMappingCuration +NANDO:2200700 ZAP-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:2200737 STAT5b deficiency skos:exactMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:ManualMappingCuration +NANDO:2200773 CARD9 deficiency skos:exactMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:ManualMappingCuration +NANDO:2200788 Factor D deficiency skos:exactMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:ManualMappingCuration +NANDO:2200790 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200793 MASP2 deficiency skos:exactMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:ManualMappingCuration +NANDO:2200794 Ficolin 3 Deficiency skos:exactMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:ManualMappingCuration +NANDO:2200798 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200872 Minicore myopathy skos:exactMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:ManualMappingCuration +NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201268 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:2201277 Secondary aplastic anemia skos:exactMatch MONDO:0015610 acquired aplastic anemia semapv:ManualMappingCuration +NANDO:2201351 Spondyloperipheral dysplasia skos:exactMatch MONDO:0010078 spondyloperipheral dysplasia semapv:ManualMappingCuration diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl new file mode 100644 index 00000000..8bdc1264 --- /dev/null +++ b/src/ontology/external/nando-mappings.robot.owl @@ -0,0 +1,13395 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + NANDO:2200317 + + + + + + + + NANDO:1201071 + + + + + + + + NANDO:2100135 + + + + + + + + NANDO:1200334 + NANDO:2200708 + + + + + + + + NANDO:2100257 + + + + + + + + NANDO:2200258 + + + + + + + + NANDO:1200799 + + + + + + + + NANDO:2100052 + NANDO:2200227 + + + + + + + + NANDO:2200475 + + + + + + + + NANDO:1200215 + NANDO:2200862 + + + + + + + + NANDO:1200932 + + + + + + + + NANDO:1200037 + NANDO:2100238 + NANDO:2200882 + + + + + + + + NANDO:1200026 + NANDO:2201321 + + + + + + + + NANDO:1200025 + NANDO:2201320 + + + + + + + + NANDO:1200936 + + + + + + + + NANDO:1201032 + NANDO:2100226 + NANDO:2200842 + + + + + + + + NANDO:2200214 + + + + + + + + NANDO:2200076 + + + + + + + + NANDO:2100014 + NANDO:2200139 + + + + + + + + NANDO:2200099 + NANDO:2200100 + + + + + + + + NANDO:2200588 + + + + + + + + NANDO:2200242 + + + + + + + + NANDO:1200957 + + + + + + + + NANDO:2200002 + + + + + + + + NANDO:2200008 + NANDO:2200009 + + + + + + + + NANDO:1200522 + + + + + + + + NANDO:2200774 + + + + + + + + NANDO:2200626 + + + + + + + + NANDO:1200502 + + + + + + + + NANDO:2100027 + NANDO:2200187 + + + + + + + + NANDO:2200136 + + + + + + + + NANDO:2100016 + NANDO:2200141 + + + + + + + + NANDO:2100012 + NANDO:2200137 + + + + + + + + NANDO:2100187 + NANDO:2200644 + + + + + + + + NANDO:1200775 + NANDO:2100124 + NANDO:2200345 + + + + + + + + NANDO:2200639 + + + + + + + + NANDO:2100044 + NANDO:2200213 + + + + + + + + NANDO:2200303 + + + + + + + + NANDO:2200380 + + + + + + + + NANDO:1200395 + NANDO:2100121 + NANDO:2200341 + + + + + + + + NANDO:2200603 + + + + + + + + NANDO:1200347 + NANDO:2200720 + + + + + + + + NANDO:1200491 + NANDO:2200859 + + + + + + + + NANDO:2201024 + + + + + + + + NANDO:2200361 + + + + + + + + NANDO:1200746 + + + + + + + + NANDO:2200299 + + + + + + + + NANDO:1200003 + NANDO:2100231 + NANDO:2200853 + + + + + + + + NANDO:2200157 + + + + + + + + NANDO:2200547 + NANDO:2201168 + + + + + + + + NANDO:1200714 + NANDO:1200723 + + + + + + + + NANDO:1200815 + NANDO:2201266 + + + + + + + + NANDO:2100176 + NANDO:2200612 + + + + + + + + NANDO:2100177 + + + + + + + + NANDO:1200302 + NANDO:2201275 + + + + + + + + NANDO:1200607 + NANDO:2200826 + + + + + + + + NANDO:2100123 + NANDO:2200343 + + + + + + + + NANDO:2200815 + + + + + + + + NANDO:2100043 + NANDO:2200212 + + + + + + + + NANDO:2100019 + NANDO:2200144 + + + + + + + + NANDO:2200305 + + + + + + + + NANDO:2200379 + + + + + + + + NANDO:2200388 + + + + + + + + NANDO:2200561 + + + + + + + + NANDO:1200793 + NANDO:2200491 + + + + + + + + NANDO:2201032 + + + + + + + + NANDO:2100087 + NANDO:2200270 + + + + + + + + NANDO:2200074 + + + + + + + + NANDO:2100140 + + + + + + + + NANDO:2200681 + + + + + + + + NANDO:2200675 + + + + + + + + NANDO:2200678 + + + + + + + + NANDO:1201081 + NANDO:2100198 + NANDO:2200690 + + + + + + + + NANDO:2200852 + + + + + + + + NANDO:1200030 + NANDO:2100251 + NANDO:2200905 + + + + + + + + NANDO:1200838 + + + + + + + + NANDO:1200840 + NANDO:1201018 + NANDO:2200538 + + + + + + + + NANDO:1200416 + NANDO:2200199 + + + + + + + + NANDO:2100053 + NANDO:2200228 + + + + + + + + NANDO:1200737 + NANDO:2200123 + + + + + + + + NANDO:1200626 + + + + + + + + NANDO:2200172 + + + + + + + + NANDO:2200503 + + + + + + + + NANDO:2200089 + + + + + + + + NANDO:2200089 + + + + + + + + NANDO:2200103 + + + + + + + + NANDO:1200055 + NANDO:2100165 + + + + + + + + NANDO:2200194 + + + + + + + + NANDO:2200048 + + + + + + + + NANDO:2100005 + + + + + + + + NANDO:2200060 + + + + + + + + NANDO:2200060 + + + + + + + + NANDO:2100007 + + + + + + + + NANDO:2200104 + + + + + + + + NANDO:2200057 + + + + + + + + NANDO:2200090 + + + + + + + + NANDO:2200090 + + + + + + + + NANDO:2200081 + + + + + + + + NANDO:2100105 + + + + + + + + NANDO:2200301 + + + + + + + + NANDO:1200482 + NANDO:2200867 + + + + + + + + NANDO:2200062 + + + + + + + + NANDO:2201022 + + + + + + + + NANDO:2200066 + + + + + + + + NANDO:2200094 + + + + + + + + NANDO:2201038 + + + + + + + + NANDO:1200717 + + + + + + + + NANDO:1201029 + NANDO:2200122 + + + + + + + + NANDO:1200878 + NANDO:1200880 + + + + + + + + NANDO:2200178 + + + + + + + + NANDO:2200105 + + + + + + + + NANDO:2200395 + + + + + + + + NANDO:2200065 + + + + + + + + NANDO:2200065 + + + + + + + + NANDO:2100004 + + + + + + + + NANDO:2100004 + + + + + + + + NANDO:2200636 + + + + + + + + NANDO:2100183 + + + + + + + + NANDO:2200069 + + + + + + + + NANDO:1200320 + NANDO:2100204 + + + + + + + + NANDO:1200364 + NANDO:2200776 + + + + + + + + NANDO:2100172 + + + + + + + + NANDO:2200352 + + + + + + + + NANDO:1200345 + NANDO:2200718 + + + + + + + + NANDO:1200871 + NANDO:2201020 + + + + + + + + NANDO:2200084 + + + + + + + + NANDO:1200173 + NANDO:2100163 + + + + + + + + NANDO:2200108 + + + + + + + + NANDO:1100013 + + + + + + + + NANDO:2100002 + + + + + + + + NANDO:2100119 + NANDO:2200329 + + + + + + + + NANDO:2200437 + + + + + + + + NANDO:1200243 + + + + + + + + NANDO:1200368 + NANDO:2200153 + + + + + + + + NANDO:1201038 + NANDO:2200474 + + + + + + + + NANDO:1200802 + + + + + + + + NANDO:2100117 + + + + + + + + NANDO:2100036 + NANDO:2200206 + + + + + + + + NANDO:1200939 + + + + + + + + NANDO:1200705 + NANDO:2100071 + NANDO:2200249 + + + + + + + + NANDO:2200024 + + + + + + + + NANDO:1100002 + + + + + + + + NANDO:2200003 + + + + + + + + NANDO:2200028 + + + + + + + + NANDO:2200078 + + + + + + + + NANDO:1200002 + + + + + + + + NANDO:2200029 + + + + + + + + NANDO:2100098 + + + + + + + + NANDO:2100051 + NANDO:2200226 + + + + + + + + NANDO:1100005 + + + + + + + + NANDO:2200051 + + + + + + + + NANDO:2200044 + + + + + + + + NANDO:1200444 + NANDO:1200446 + NANDO:2200921 + + + + + + + + NANDO:2100157 + NANDO:2100158 + + + + + + + + NANDO:2100057 + NANDO:2200232 + + + + + + + + NANDO:2100194 + NANDO:2200655 + + + + + + + + NANDO:2200041 + + + + + + + + NANDO:1200286 + NANDO:1200288 + NANDO:2100054 + NANDO:2200229 + NANDO:2201042 + + + + + + + + NANDO:1100004 + NANDO:2100202 + + + + + + + + NANDO:2200064 + + + + + + + + NANDO:2100002 + + + + + + + + NANDO:2200065 + + + + + + + + NANDO:2100004 + + + + + + + + NANDO:1100002 + + + + + + + + NANDO:2200248 + + + + + + + + NANDO:2200040 + + + + + + + + NANDO:2200045 + + + + + + + + NANDO:1100010 + + + + + + + + NANDO:2100281 + + + + + + + + NANDO:1200277 + NANDO:2200429 + + + + + + + + NANDO:1200449 + NANDO:2200920 + + + + + + + + NANDO:2200058 + + + + + + + + NANDO:2200077 + + + + + + + + NANDO:2200810 + + + + + + + + NANDO:2200460 + + + + + + + + NANDO:2200461 + + + + + + + + NANDO:1100009 + NANDO:2100109 + + + + + + + + NANDO:1200387 + NANDO:2100110 + + + + + + + + NANDO:2100268 + NANDO:2200937 + + + + + + + + NANDO:2100101 + NANDO:2200294 + + + + + + + + NANDO:2200060 + + + + + + + + NANDO:1200010 + + + + + + + + NANDO:1200174 + + + + + + + + NANDO:1200292 + NANDO:1200293 + NANDO:2100058 + NANDO:2200233 + + + + + + + + NANDO:1200267 + + + + + + + + NANDO:2200070 + + + + + + + + NANDO:2200056 + + + + + + + + NANDO:2200004 + + + + + + + + NANDO:2200005 + + + + + + + + NANDO:2100259 + + + + + + + + NANDO:2100008 + NANDO:2100023 + + + + + + + + NANDO:1200023 + NANDO:2100250 + NANDO:2200904 + + + + + + + + NANDO:1200870 + + + + + + + + NANDO:2100050 + NANDO:2200218 + NANDO:2200225 + + + + + + + + NANDO:1200024 + NANDO:2201319 + + + + + + + + NANDO:1200366 + NANDO:2200121 + + + + + + + + NANDO:1200456 + + + + + + + + NANDO:1200722 + NANDO:2200113 + + + + + + + + NANDO:2200328 + + + + + + + + NANDO:2200396 + + + + + + + + NANDO:1200721 + NANDO:2200114 + + + + + + + + NANDO:2100009 + + + + + + + + NANDO:2100291 + NANDO:2100293 + + + + + + + + NANDO:2100294 + + + + + + + + NANDO:2100139 + + + + + + + + NANDO:1200439 + + + + + + + + NANDO:2100120 + + + + + + + + NANDO:1200186 + + + + + + + + NANDO:2200383 + + + + + + + + NANDO:2200602 + + + + + + + + NANDO:2200067 + + + + + + + + NANDO:2100049 + + + + + + + + NANDO:2200218 + + + + + + + + NANDO:2200049 + NANDO:2201014 + NANDO:2201015 + + + + + + + + NANDO:1200446 + + + + + + + + NANDO:1200451 + + + + + + + + NANDO:1200447 + + + + + + + + NANDO:1200450 + + + + + + + + NANDO:1200445 + + + + + + + + NANDO:2200045 + + + + + + + + NANDO:2100151 + NANDO:2100152 + + + + + + + + NANDO:2200128 + + + + + + + + NANDO:1100006 + NANDO:2100175 + + + + + + + + NANDO:2200336 + + + + + + + + NANDO:2200307 + + + + + + + + NANDO:1200911 + NANDO:2100040 + NANDO:2200210 + + + + + + + + NANDO:2200890 + + + + + + + + NANDO:2200892 + + + + + + + + NANDO:2200069 + + + + + + + + NANDO:2200034 + + + + + + + + NANDO:2200627 + + + + + + + + NANDO:2100143 + NANDO:2200399 + + + + + + + + NANDO:2100115 + NANDO:2200322 + + + + + + + + NANDO:1200668 + NANDO:2200976 + + + + + + + + NANDO:2200035 + + + + + + + + NANDO:2200465 + + + + + + + + NANDO:1200963 + NANDO:2200302 + + + + + + + + NANDO:1200278 + NANDO:2200430 + + + + + + + + NANDO:1200372 + + + + + + + + NANDO:2200300 + + + + + + + + NANDO:2200179 + + + + + + + + NANDO:2200072 + + + + + + + + NANDO:1200385 + NANDO:1200386 + + + + + + + + NANDO:2200052 + + + + + + + + NANDO:2200095 + + + + + + + + NANDO:2200039 + + + + + + + + NANDO:2200107 + + + + + + + + NANDO:2200079 + + + + + + + + NANDO:1200859 + + + + + + + + NANDO:1200234 + NANDO:2100284 + NANDO:2201000 + + + + + + + + NANDO:1200858 + NANDO:2100147 + NANDO:2200404 + + + + + + + + NANDO:1200228 + + + + + + + + NANDO:2200073 + + + + + + + + NANDO:1200251 + NANDO:2200423 + + + + + + + + NANDO:2100130 + NANDO:2200362 + + + + + + + + NANDO:2100085 + + + + + + + + NANDO:2200396 + + + + + + + + NANDO:1200030 + NANDO:2100251 + NANDO:2200905 + + + + + + + + NANDO:2100064 + NANDO:2200239 + + + + + + + + NANDO:2200246 + + + + + + + + NANDO:2200234 + + + + + + + + NANDO:1200741 + + + + + + + + NANDO:2200637 + + + + + + + + NANDO:1200376 + NANDO:2100116 + NANDO:2200323 + + + + + + + + NANDO:2200386 + + + + + + + + NANDO:1200720 + NANDO:2200112 + + + + + + + + NANDO:2100092 + NANDO:2200276 + + + + + + + + NANDO:2200304 + + + + + + + + NANDO:2100016 + NANDO:2200141 + + + + + + + + NANDO:2100093 + NANDO:2200277 + + + + + + + + NANDO:1200194 + + + + + + + + NANDO:1200675 + + + + + + + + NANDO:2200185 + + + + + + + + NANDO:1200877 + NANDO:2201009 + + + + + + + + NANDO:1200227 + + + + + + + + NANDO:1200667 + NANDO:2200844 + + + + + + + + NANDO:2200848 + + + + + + + + NANDO:1200668 + NANDO:2200976 + + + + + + + + NANDO:1200323 + NANDO:2200696 + + + + + + + + NANDO:1201075 + + + + + + + + NANDO:1201063 + + + + + + + + NANDO:2200138 + + + + + + + + NANDO:1200214 + NANDO:1201060 + + + + + + + + NANDO:1200888 + + + + + + + + NANDO:1200686 + NANDO:2200960 + + + + + + + + NANDO:2200271 + + + + + + + + NANDO:1200271 + NANDO:2200421 + + + + + + + + NANDO:2100229 + NANDO:2200851 + + + + + + + + NANDO:2201354 + + + + + + + + NANDO:1200041 + + + + + + + + NANDO:2200828 + + + + + + + + NANDO:1200284 + NANDO:2200422 + + + + + + + + NANDO:2201027 + + + + + + + + NANDO:2200047 + + + + + + + + NANDO:1200479 + NANDO:2200870 + + + + + + + + NANDO:1200044 + + + + + + + + NANDO:2200444 + + + + + + + + NANDO:1200918 + NANDO:1200919 + NANDO:2200931 + + + + + + + + NANDO:2201359 + + + + + + + + NANDO:1200519 + + + + + + + + NANDO:2200283 + NANDO:2200284 + + + + + + + + NANDO:1200365 + NANDO:2200795 + + + + + + + + NANDO:2201026 + + + + + + + + NANDO:1200813 + NANDO:2201264 + + + + + + + + NANDO:1200189 + + + + + + + + NANDO:1200684 + NANDO:2200961 + + + + + + + + NANDO:1200666 + NANDO:2200845 + + + + + + + + NANDO:1200878 + NANDO:1200880 + + + + + + + + NANDO:1200545 + + + + + + + + NANDO:1200043 + + + + + + + + NANDO:2201050 + + + + + + + + NANDO:2200461 + NANDO:2201069 + + + + + + + + NANDO:2201070 + + + + + + + + NANDO:1200512 + NANDO:2100240 + NANDO:2200884 + + + + + + + + NANDO:1200515 + + + + + + + + NANDO:1200521 + + + + + + + + NANDO:1200516 + + + + + + + + NANDO:1200523 + NANDO:1200524 + + + + + + + + NANDO:1200646 + NANDO:2201256 + + + + + + + + NANDO:1200647 + NANDO:2201257 + + + + + + + + NANDO:1200650 + NANDO:2201260 + + + + + + + + NANDO:2200959 + + + + + + + + NANDO:2200405 + + + + + + + + NANDO:2200970 + + + + + + + + NANDO:1200871 + NANDO:2201020 + + + + + + + + NANDO:1200190 + + + + + + + + NANDO:2201073 + + + + + + + + NANDO:2200133 + + + + + + + + NANDO:1200030 + NANDO:2100251 + NANDO:2200905 + + + + + + + + NANDO:2200335 + + + + + + + + NANDO:2100297 + NANDO:2201035 + + + + + + + + NANDO:1200472 + NANDO:2200433 + + + + + + + + NANDO:1200012 + + + + + + + + NANDO:2200176 + + + + + + + + NANDO:2200602 + + + + + + + + NANDO:2201010 + + + + + + + + NANDO:1200382 + + + + + + + + NANDO:1200034 + + + + + + + + NANDO:1200613 + NANDO:2200990 + + + + + + + + NANDO:1200032 + NANDO:1200218 + + + + + + + + NANDO:1200884 + NANDO:2201030 + + + + + + + + NANDO:2201019 + + + + + + + + NANDO:2200190 + + + + + + + + NANDO:2201347 + + + + + + + + NANDO:2200008 + NANDO:2200009 + + + + + + + + NANDO:1200272 + NANDO:2200416 + + + + + + + + NANDO:1200644 + NANDO:2200968 + + + + + + + + NANDO:1200893 + NANDO:2100193 + NANDO:2200127 + NANDO:2200654 + + + + + + + + NANDO:2200090 + + + + + + + + NANDO:1200459 + NANDO:2200947 + + + + + + + + NANDO:2201364 + + + + + + + + NANDO:2201350 + + + + + + + + NANDO:1200559 + NANDO:2200980 + + + + + + + + NANDO:1200220 + + + + + + + + NANDO:1200206 + + + + + + + + NANDO:2200418 + + + + + + + + NANDO:1200967 + NANDO:2200132 + + + + + + + + NANDO:2201053 + + + + + + + + NANDO:1200354 + NANDO:2200746 + + + + + + + + NANDO:1200493 + + + + + + + + NANDO:1200045 + + + + + + + + NANDO:1200047 + + + + + + + + NANDO:2200049 + NANDO:2201015 + + + + + + + + NANDO:1200921 + NANDO:2200942 + + + + + + + + NANDO:1200501 + + + + + + + + NANDO:1200547 + + + + + + + + NANDO:1200631 + + + + + + + + NANDO:1200229 + + + + + + + + NANDO:2200472 + + + + + + + + NANDO:1200827 + + + + + + + + NANDO:1200503 + + + + + + + + NANDO:1200504 + + + + + + + + NANDO:2200406 + NANDO:2201052 + + + + + + + + NANDO:1200239 + + + + + + + + NANDO:2200917 + + + + + + + + NANDO:1200901 + + + + + + + + NANDO:1200812 + NANDO:2201263 + + + + + + + + NANDO:1200814 + NANDO:2201265 + + + + + + + + NANDO:1200678 + NANDO:2200411 + + + + + + + + NANDO:1201007 + NANDO:2200833 + + + + + + + + NANDO:1200815 + NANDO:2201266 + + + + + + + + NANDO:2201018 + + + + + + + + NANDO:2100131 + NANDO:2200363 + + + + + + + + NANDO:2200668 + + + + + + + + NANDO:1200708 + NANDO:2200252 + + + + + + + + NANDO:1200417 + + + + + + + + NANDO:1200751 + NANDO:2100037 + NANDO:2200207 + + + + + + + + NANDO:2200634 + + + + + + + + NANDO:2200042 + + + + + + + + NANDO:1200560 + NANDO:1200561 + NANDO:2200820 + + + + + + + + NANDO:1200687 + NANDO:2200954 + + + + + + + + NANDO:1200042 + + + + + + + + NANDO:1200046 + + + + + + + + NANDO:2201348 + + + + + + + + NANDO:2201349 + + + + + + + + NANDO:2100149 + NANDO:2200409 + + + + + + + + NANDO:1200606 + NANDO:2200830 + + + + + + + + NANDO:1200558 + + + + + + + + NANDO:2200285 + + + + + + + + NANDO:1200476 + NANDO:2200434 + + + + + + + + NANDO:1200258 + NANDO:1200259 + NANDO:1200260 + + + + + + + + NANDO:1200709 + NANDO:2100075 + NANDO:2200254 + + + + + + + + NANDO:1200875 + + + + + + + + NANDO:1200876 + + + + + + + + NANDO:2200663 + + + + + + + + NANDO:2100192 + NANDO:2200653 + + + + + + + + NANDO:1200315 + NANDO:2200645 + + + + + + + + NANDO:1200339 + NANDO:1200688 + NANDO:2200712 + + + + + + + + NANDO:2200965 + + + + + + + + NANDO:2200183 + + + + + + + + NANDO:1200467 + NANDO:2201067 + + + + + + + + NANDO:1200657 + NANDO:2200983 + + + + + + + + NANDO:1200339 + NANDO:1200688 + NANDO:2200712 + + + + + + + + NANDO:2200408 + NANDO:2200829 + + + + + + + + NANDO:2200767 + + + + + + + + NANDO:1200664 + NANDO:2200286 + + + + + + + + NANDO:2200116 + + + + + + + + NANDO:1200683 + NANDO:2200962 + + + + + + + + NANDO:2200217 + + + + + + + + NANDO:1200857 + NANDO:2200604 + + + + + + + + NANDO:1200014 + + + + + + + + NANDO:2201345 + + + + + + + + NANDO:2201345 + NANDO:2201346 + + + + + + + + NANDO:2200584 + + + + + + + + NANDO:2200513 + + + + + + + + NANDO:2200514 + + + + + + + + NANDO:2200512 + NANDO:2201139 + + + + + + + + NANDO:1200398 + NANDO:2200371 + + + + + + + + NANDO:1200399 + NANDO:2200374 + + + + + + + + NANDO:1200400 + NANDO:2200372 + + + + + + + + NANDO:1200401 + NANDO:2200373 + + + + + + + + NANDO:2200672 + + + + + + + + NANDO:1200460 + NANDO:2200948 + + + + + + + + NANDO:1201078 + + + + + + + + NANDO:1200554 + NANDO:2200835 + + + + + + + + NANDO:2200504 + + + + + + + + NANDO:1200987 + NANDO:2200493 + + + + + + + + NANDO:1200153 + NANDO:2201242 + + + + + + + + NANDO:1201006 + + + + + + + + NANDO:1200854 + + + + + + + + NANDO:1200669 + NANDO:2200975 + + + + + + + + NANDO:1200807 + NANDO:2200482 + + + + + + + + NANDO:1200806 + NANDO:2200481 + + + + + + + + NANDO:1200133 + NANDO:2200555 + + + + + + + + NANDO:1200331 + NANDO:2200705 + + + + + + + + NANDO:1200051 + + + + + + + + NANDO:2100180 + NANDO:2200617 + + + + + + + + NANDO:1200753 + NANDO:2100032 + NANDO:2200198 + + + + + + + + NANDO:1200329 + NANDO:2200702 + + + + + + + + NANDO:1200853 + + + + + + + + NANDO:1200913 + NANDO:2200930 + + + + + + + + NANDO:1200333 + NANDO:2200707 + + + + + + + + NANDO:2201040 + + + + + + + + NANDO:1200266 + + + + + + + + NANDO:1201043 + + + + + + + + NANDO:2200773 + + + + + + + + NANDO:1200972 + NANDO:2200511 + + + + + + + + NANDO:1200973 + NANDO:2200508 + + + + + + + + NANDO:1200207 + + + + + + + + NANDO:1200856 + + + + + + + + NANDO:1200151 + NANDO:2201240 + + + + + + + + NANDO:1200350 + NANDO:1200639 + NANDO:2200724 + + + + + + + + NANDO:1200464 + NANDO:2200972 + + + + + + + + NANDO:1200763 + + + + + + + + NANDO:2201361 + + + + + + + + NANDO:2200050 + + + + + + + + NANDO:2200098 + + + + + + + + NANDO:1200939 + + + + + + + + NANDO:1200805 + NANDO:2200480 + + + + + + + + NANDO:1201050 + + + + + + + + NANDO:2200750 + + + + + + + + NANDO:2200781 + + + + + + + + NANDO:2200288 + + + + + + + + NANDO:2100130 + NANDO:2200362 + + + + + + + + NANDO:1200463 + NANDO:2200971 + + + + + + + + NANDO:2201368 + + + + + + + + NANDO:1201059 + + + + + + + + NANDO:2100272 + NANDO:2200941 + + + + + + + + NANDO:2200353 + + + + + + + + NANDO:1200379 + NANDO:2200350 + + + + + + + + NANDO:1200922 + NANDO:1201021 + NANDO:2100035 + NANDO:2200205 + + + + + + + + NANDO:1200164 + NANDO:2201236 + + + + + + + + NANDO:1200163 + NANDO:2201235 + + + + + + + + NANDO:2200489 + + + + + + + + NANDO:2200821 + + + + + + + + NANDO:1200658 + + + + + + + + NANDO:1200546 + + + + + + + + NANDO:1200809 + NANDO:2200488 + + + + + + + + NANDO:1200771 + + + + + + + + NANDO:2200908 + + + + + + + + NANDO:2200907 + + + + + + + + NANDO:2200597 + + + + + + + + NANDO:1200887 + + + + + + + + NANDO:2201365 + + + + + + + + NANDO:1200513 + + + + + + + + NANDO:1200711 + NANDO:2100080 + NANDO:2200260 + + + + + + + + NANDO:1200651 + NANDO:2201261 + + + + + + + + NANDO:2100060 + NANDO:2200235 + + + + + + + + NANDO:2200910 + + + + + + + + NANDO:2200768 + + + + + + + + NANDO:1200238 + NANDO:2201383 + + + + + + + + NANDO:1201066 + NANDO:2201379 + + + + + + + + NANDO:2201376 + + + + + + + + NANDO:1201065 + NANDO:2200119 + NANDO:2201378 + + + + + + + + NANDO:2201380 + + + + + + + + NANDO:2200808 + + + + + + + + NANDO:1200086 + NANDO:2200565 + + + + + + + + NANDO:2200685 + + + + + + + + NANDO:1200810 + NANDO:2200592 + + + + + + + + NANDO:2200531 + + + + + + + + NANDO:2200535 + + + + + + + + NANDO:1200130 + NANDO:2200553 + + + + + + + + NANDO:2200533 + + + + + + + + NANDO:2200534 + + + + + + + + NANDO:1200851 + NANDO:2200532 + + + + + + + + NANDO:1200067 + NANDO:2201196 + + + + + + + + NANDO:1200068 + NANDO:2201197 + + + + + + + + NANDO:1200069 + NANDO:2201198 + + + + + + + + NANDO:1200057 + NANDO:2201210 + + + + + + + + NANDO:1200058 + NANDO:2201211 + + + + + + + + NANDO:1200059 + NANDO:2201212 + + + + + + + + NANDO:2200656 + + + + + + + + NANDO:2200516 + + + + + + + + NANDO:1200410 + + + + + + + + NANDO:1200800 + NANDO:2200501 + + + + + + + + NANDO:1200801 + NANDO:2200502 + + + + + + + + NANDO:2201153 + + + + + + + + NANDO:1200841 + NANDO:2200754 + NANDO:2201154 + + + + + + + + NANDO:1200138 + NANDO:1200825 + NANDO:2200569 + + + + + + + + NANDO:1200826 + NANDO:1200844 + NANDO:1201019 + NANDO:2200539 + + + + + + + + NANDO:1200827 + NANDO:1200850 + NANDO:2200540 + + + + + + + + NANDO:1200828 + NANDO:2200541 + + + + + + + + NANDO:1200846 + NANDO:2200542 + + + + + + + + NANDO:1200823 + NANDO:1200829 + NANDO:2200543 + + + + + + + + NANDO:2200384 + + + + + + + + NANDO:1200717 + NANDO:1200718 + NANDO:2200125 + + + + + + + + NANDO:2201280 + + + + + + + + NANDO:2201281 + + + + + + + + NANDO:2201282 + + + + + + + + NANDO:2200680 + + + + + + + + NANDO:2200973 + + + + + + + + NANDO:1200534 + NANDO:2200886 + + + + + + + + NANDO:2200487 + + + + + + + + NANDO:2200214 + + + + + + + + NANDO:1200341 + NANDO:2200714 + + + + + + + + NANDO:1200663 + NANDO:2200981 + + + + + + + + NANDO:1201039 + + + + + + + + NANDO:1201041 + + + + + + + + NANDO:2201109 + + + + + + + + NANDO:1200803 + NANDO:2200478 + + + + + + + + NANDO:1200808 + NANDO:2200477 + NANDO:2201084 + + + + + + + + NANDO:2200485 + + + + + + + + NANDO:1200411 + NANDO:1200412 + NANDO:2200359 + NANDO:2200360 + + + + + + + + NANDO:2200346 + NANDO:2200738 + + + + + + + + NANDO:1200824 + NANDO:1200838 + NANDO:2200537 + NANDO:2201151 + + + + + + + + NANDO:1200614 + NANDO:2200992 + + + + + + + + NANDO:1200337 + NANDO:2200711 + + + + + + + + NANDO:1200798 + NANDO:2200494 + + + + + + + + NANDO:1200662 + + + + + + + + NANDO:2200499 + + + + + + + + NANDO:1200074 + NANDO:2200564 + + + + + + + + NANDO:1200602 + + + + + + + + NANDO:1200852 + + + + + + + + NANDO:2200497 + NANDO:2201119 + + + + + + + + NANDO:2200608 + + + + + + + + NANDO:1201083 + + + + + + + + NANDO:1200424 + + + + + + + + NANDO:1200126 + + + + + + + + NANDO:1200129 + NANDO:2201190 + + + + + + + + NANDO:1200791 + NANDO:2200473 + + + + + + + + NANDO:1200485 + + + + + + + + NANDO:1200864 + + + + + + + + NANDO:2200827 + + + + + + + + NANDO:1200082 + NANDO:2201205 + + + + + + + + NANDO:1200080 + NANDO:2201203 + + + + + + + + NANDO:2201111 + + + + + + + + NANDO:1200990 + + + + + + + + NANDO:1200794 + + + + + + + + NANDO:1200795 + NANDO:2201105 + + + + + + + + NANDO:1200796 + NANDO:2201106 + + + + + + + + NANDO:1200332 + NANDO:2200706 + + + + + + + + NANDO:1200713 + NANDO:2200120 + NANDO:2201385 + + + + + + + + NANDO:2100255 + NANDO:2200913 + + + + + + + + NANDO:1200181 + + + + + + + + NANDO:1200124 + NANDO:2200567 + + + + + + + + NANDO:1200101 + NANDO:2201174 + + + + + + + + NANDO:1200102 + NANDO:2201175 + + + + + + + + NANDO:1200103 + NANDO:2201176 + + + + + + + + NANDO:1200104 + NANDO:2201177 + + + + + + + + NANDO:1200106 + NANDO:2201178 + + + + + + + + NANDO:1200107 + NANDO:2201179 + + + + + + + + NANDO:1200108 + NANDO:1200109 + NANDO:1200110 + NANDO:2200551 + + + + + + + + NANDO:1200111 + NANDO:2200552 + + + + + + + + NANDO:1200822 + + + + + + + + NANDO:1200821 + + + + + + + + NANDO:1200004 + + + + + + + + NANDO:1200006 + + + + + + + + NANDO:1200005 + + + + + + + + NANDO:1200494 + NANDO:2200860 + + + + + + + + NANDO:1200215 + + + + + + + + NANDO:1200217 + + + + + + + + NANDO:1200020 + NANDO:2100252 + NANDO:2200906 + + + + + + + + NANDO:1201057 + + + + + + + + NANDO:1200358 + NANDO:2200758 + + + + + + + + NANDO:1200955 + NANDO:2200881 + + + + + + + + NANDO:1200954 + NANDO:2200880 + + + + + + + + NANDO:1200970 + NANDO:2200509 + + + + + + + + NANDO:1200497 + NANDO:1200498 + + + + + + + + NANDO:1200483 + NANDO:2200868 + + + + + + + + NANDO:2200872 + + + + + + + + NANDO:1200499 + + + + + + + + NANDO:1200224 + NANDO:2100235 + NANDO:2200876 + + + + + + + + NANDO:1200175 + NANDO:2200527 + + + + + + + + NANDO:1200867 + NANDO:2200435 + + + + + + + + NANDO:1201036 + NANDO:2200140 + + + + + + + + NANDO:2200110 + + + + + + + + NANDO:1200338 + NANDO:1200619 + NANDO:2200993 + + + + + + + + NANDO:1200119 + NANDO:2200557 + + + + + + + + NANDO:1200118 + NANDO:1200120 + NANDO:2201192 + NANDO:2201193 + + + + + + + + NANDO:2200887 + + + + + + + + NANDO:1200152 + NANDO:2201241 + + + + + + + + NANDO:1200553 + NANDO:2200854 + + + + + + + + NANDO:1200061 + NANDO:2201206 + + + + + + + + NANDO:1200752 + + + + + + + + NANDO:1200909 + NANDO:1200910 + NANDO:2200950 + NANDO:2200951 + + + + + + + + NANDO:1200992 + + + + + + + + NANDO:2200484 + NANDO:2200486 + + + + + + + + NANDO:2200590 + + + + + + + + NANDO:1200642 + NANDO:2100288 + NANDO:2201004 + + + + + + + + NANDO:2200048 + + + + + + + + NANDO:1200869 + NANDO:2200438 + + + + + + + + NANDO:1200773 + + + + + + + + NANDO:1200356 + NANDO:2200756 + + + + + + + + NANDO:1200195 + NANDO:1200196 + NANDO:1200198 + NANDO:2100245 + NANDO:2200899 + + + + + + + + NANDO:2200093 + + + + + + + + NANDO:1200866 + NANDO:2200436 + + + + + + + + NANDO:1200766 + + + + + + + + NANDO:1200784 + NANDO:1200785 + NANDO:2200467 + NANDO:2201075 + + + + + + + + NANDO:1200832 + + + + + + + + NANDO:1200848 + NANDO:2201165 + + + + + + + + NANDO:2200687 + + + + + + + + NANDO:2200671 + + + + + + + + NANDO:1200422 + NANDO:1200423 + + + + + + + + NANDO:1200369 + NANDO:2200154 + + + + + + + + NANDO:2100186 + NANDO:2200643 + + + + + + + + NANDO:2201163 + + + + + + + + NANDO:1200817 + NANDO:2201268 + + + + + + + + NANDO:2100020 + NANDO:2200145 + + + + + + + + NANDO:2200390 + + + + + + + + NANDO:1200765 + + + + + + + + NANDO:2200389 + + + + + + + + NANDO:1200782 + + + + + + + + NANDO:2200202 + + + + + + + + NANDO:2200295 + + + + + + + + NANDO:1200707 + NANDO:2200253 + + + + + + + + NANDO:1200427 + + + + + + + + NANDO:2201023 + + + + + + + + NANDO:2201367 + + + + + + + + NANDO:2200631 + + + + + + + + NANDO:2200519 + + + + + + + + NANDO:2200628 + + + + + + + + NANDO:1201058 + + + + + + + + NANDO:1200769 + NANDO:2200577 + + + + + + + + NANDO:1200322 + NANDO:2200695 + + + + + + + + NANDO:1200671 + + + + + + + + NANDO:1200072 + NANDO:2201200 + + + + + + + + NANDO:1201073 + NANDO:2200818 + + + + + + + + NANDO:2200347 + + + + + + + + NANDO:1200327 + NANDO:2200700 + + + + + + + + NANDO:1200147 + NANDO:2201237 + + + + + + + + NANDO:1200279 + NANDO:1200280 + NANDO:2200420 + + + + + + + + NANDO:1200620 + NANDO:2200994 + + + + + + + + NANDO:1200961 + NANDO:2200979 + + + + + + + + NANDO:2200320 + + + + + + + + NANDO:1200007 + + + + + + + + NANDO:2200775 + + + + + + + + NANDO:2201351 + + + + + + + + NANDO:1200948 + NANDO:2200834 + + + + + + + + NANDO:2200599 + + + + + + + + NANDO:1200083 + NANDO:1200624 + NANDO:2200566 + + + + + + + + NANDO:2200583 + + + + + + + + NANDO:1200073 + NANDO:2201201 + + + + + + + + NANDO:1200071 + NANDO:2201199 + + + + + + + + NANDO:2200657 + NANDO:2200664 + + + + + + + + NANDO:2200661 + + + + + + + + NANDO:1200317 + + + + + + + + NANDO:1200395 + NANDO:2100121 + NANDO:2200341 + + + + + + + + NANDO:1200622 + NANDO:1200623 + NANDO:2200997 + + + + + + + + NANDO:1200789 + NANDO:2200469 + + + + + + + + NANDO:1200788 + NANDO:2200468 + + + + + + + + NANDO:1200790 + NANDO:2200470 + + + + + + + + NANDO:1200942 + + + + + + + + NANDO:2201110 + + + + + + + + NANDO:1201040 + NANDO:2201107 + + + + + + + + NANDO:1200797 + NANDO:2201108 + + + + + + + + NANDO:1200050 + + + + + + + + NANDO:1200659 + NANDO:2200957 + + + + + + + + NANDO:1200676 + NANDO:2200831 + + + + + + + + NANDO:1200655 + NANDO:2200579 + + + + + + + + NANDO:1200404 + + + + + + + + NANDO:1200599 + + + + + + + + NANDO:1200166 + NANDO:2201246 + + + + + + + + NANDO:1200403 + NANDO:2200357 + + + + + + + + NANDO:1200145 + NANDO:1200222 + + + + + + + + NANDO:2200984 + + + + + + + + NANDO:1200360 + NANDO:2200761 + + + + + + + + NANDO:2200753 + + + + + + + + NANDO:2200586 + + + + + + + + NANDO:1201035 + NANDO:2201301 + + + + + + + + NANDO:1200489 + NANDO:2200865 + + + + + + + + NANDO:1200321 + NANDO:2200694 + + + + + + + + NANDO:1200580 + NANDO:2201292 + + + + + + + + NANDO:1200830 + NANDO:2201167 + + + + + + + + NANDO:1200690 + NANDO:1200691 + + + + + + + + NANDO:1200692 + NANDO:2100224 + NANDO:2200840 + + + + + + + + NANDO:2201279 + + + + + + + + NANDO:1200831 + + + + + + + + NANDO:1200818 + NANDO:2201269 + + + + + + + + NANDO:1200343 + NANDO:2200716 + + + + + + + + NANDO:2200061 + + + + + + + + NANDO:1200330 + NANDO:2200704 + + + + + + + + NANDO:1200665 + NANDO:2100223 + NANDO:2200839 + + + + + + + + NANDO:1200157 + NANDO:2200563 + + + + + + + + NANDO:1200991 + NANDO:2200751 + + + + + + + + NANDO:2201356 + NANDO:2201360 + + + + + + + + NANDO:1200660 + NANDO:2200952 + + + + + + + + NANDO:1200562 + + + + + + + + NANDO:1200654 + NANDO:2200581 + + + + + + + + NANDO:2200924 + + + + + + + + NANDO:1200847 + NANDO:2201164 + + + + + + + + NANDO:2200676 + + + + + + + + NANDO:2200677 + + + + + + + + NANDO:2200505 + + + + + + + + NANDO:1200779 + + + + + + + + NANDO:1200629 + NANDO:2200998 + NANDO:2201358 + + + + + + + + NANDO:1200625 + + + + + + + + NANDO:1200351 + NANDO:2200725 + + + + + + + + NANDO:2200974 + + + + + + + + NANDO:2100028 + NANDO:2200188 + + + + + + + + NANDO:1200653 + NANDO:2200580 + + + + + + + + NANDO:1200097 + NANDO:2200548 + + + + + + + + NANDO:1200488 + NANDO:2200856 + + + + + + + + NANDO:1200223 + + + + + + + + NANDO:1200804 + NANDO:2200479 + + + + + + + + NANDO:2200789 + + + + + + + + NANDO:1200576 + NANDO:2201288 + + + + + + + + NANDO:1200938 + + + + + + + + NANDO:1200603 + NANDO:1200604 + NANDO:2100219 + NANDO:2200825 + + + + + + + + NANDO:2200978 + + + + + + + + NANDO:1200001 + + + + + + + + NANDO:1200514 + + + + + + + + NANDO:2100258 + NANDO:2200919 + + + + + + + + NANDO:1201064 + NANDO:2200529 + + + + + + + + NANDO:1200178 + NANDO:1200940 + + + + + + + + NANDO:1200176 + NANDO:2200525 + + + + + + + + NANDO:1200177 + NANDO:2200526 + + + + + + + + NANDO:1200191 + + + + + + + + NANDO:1200772 + + + + + + + + NANDO:1200544 + + + + + + + + NANDO:1200550 + + + + + + + + NANDO:2201071 + + + + + + + + NANDO:1200378 + + + + + + + + NANDO:2200934 + + + + + + + + NANDO:1200779 + + + + + + + + NANDO:2100031 + NANDO:2200197 + + + + + + + + NANDO:1200437 + + + + + + + + NANDO:1200520 + + + + + + + + NANDO:2200080 + + + + + + + + NANDO:1200526 + + + + + + + + NANDO:1200115 + + + + + + + + NANDO:1200652 + NANDO:2201262 + + + + + + + + NANDO:1200579 + NANDO:2201291 + + + + + + + + NANDO:1201044 + + + + + + + + NANDO:1200518 + + + + + + + + NANDO:1201045 + + + + + + + + NANDO:1200371 + + + + + + + + NANDO:2200823 + + + + + + + + NANDO:1200517 + + + + + + + + NANDO:2200443 + + + + + + + + NANDO:2200457 + + + + + + + + NANDO:1201056 + + + + + + + + NANDO:1201076 + + + + + + + + NANDO:1200980 + + + + + + + + NANDO:2200730 + + + + + + + + NANDO:2200728 + + + + + + + + NANDO:1200324 + NANDO:2200697 + + + + + + + + NANDO:1201003 + + + + + + + + NANDO:1200681 + NANDO:2200982 + + + + + + + + NANDO:1200951 + NANDO:2200838 + + + + + + + + NANDO:2200624 + + + + + + + + NANDO:1200950 + NANDO:2200837 + + + + + + + + NANDO:2201273 + + + + + + + + NANDO:2200749 + + + + + + + + NANDO:1200540 + NANDO:2200582 + + + + + + + + NANDO:1200469 + NANDO:2200415 + + + + + + + + NANDO:1200149 + NANDO:1200582 + NANDO:2201294 + + + + + + + + NANDO:1200868 + NANDO:2200437 + + + + + + + + NANDO:2200651 + + + + + + + + NANDO:1200328 + NANDO:2200701 + + + + + + + + NANDO:2201352 + + + + + + + + NANDO:1200706 + NANDO:1200962 + NANDO:2100073 + NANDO:2200251 + + + + + + + + NANDO:2200660 + + + + + + + + NANDO:1200979 + + + + + + + + NANDO:1200218 + + + + + + + + NANDO:1200984 + NANDO:2200476 + + + + + + + + NANDO:2200498 + + + + + + + + NANDO:1200792 + NANDO:2200492 + + + + + + + + NANDO:1200539 + NANDO:1200542 + + + + + + + + NANDO:2200063 + + + + + + + + NANDO:2200736 + + + + + + + + NANDO:2201072 + + + + + + + + NANDO:1200430 + + + + + + + + NANDO:1200799 + NANDO:2200545 + + + + + + + + NANDO:2200520 + + + + + + + + NANDO:2200909 + + + + + + + + NANDO:1200094 + NANDO:2201168 + + + + + + + + NANDO:1200096 + NANDO:2201170 + + + + + + + + NANDO:1200095 + NANDO:2201169 + + + + + + + + NANDO:1200468 + NANDO:2201066 + + + + + + + + NANDO:2200740 + + + + + + + + NANDO:1200409 + + + + + + + + NANDO:2100084 + NANDO:2200264 + + + + + + + + NANDO:1200528 + + + + + + + + NANDO:2201059 + + + + + + + + NANDO:1200062 + NANDO:2201207 + + + + + + + + NANDO:2200732 + + + + + + + + NANDO:1200527 + + + + + + + + NANDO:1200361 + NANDO:2200762 + + + + + + + + NANDO:1200585 + NANDO:2201297 + + + + + + + + NANDO:2200014 + NANDO:2200015 + + + + + + + + NANDO:2200861 + + + + + + + + NANDO:1200682 + + + + + + + + NANDO:2200744 + + + + + + + + NANDO:1200685 + + + + + + + + NANDO:2200013 + + + + + + + + NANDO:2200733 + + + + + + + + NANDO:1200988 + NANDO:2200596 + + + + + + + + NANDO:1200862 + + + + + + + + NANDO:1200263 + NANDO:1201009 + NANDO:2200424 + + + + + + + + NANDO:1200373 + + + + + + + + NANDO:2201132 + + + + + + + + NANDO:2200729 + + + + + + + + NANDO:1200326 + NANDO:2200699 + + + + + + + + NANDO:1200974 + NANDO:2200515 + NANDO:2201147 + + + + + + + + NANDO:1200689 + + + + + + + + NANDO:2200117 + + + + + + + + NANDO:1200296 + NANDO:2201276 + + + + + + + + NANDO:1200586 + NANDO:2201298 + + + + + + + + NANDO:2201353 + + + + + + + + NANDO:1200135 + + + + + + + + NANDO:1200136 + + + + + + + + NANDO:2100212 + NANDO:2200809 + + + + + + + + NANDO:2200783 + + + + + + + + NANDO:2200453 + + + + + + + + NANDO:2200791 + + + + + + + + NANDO:2200669 + + + + + + + + NANDO:2200771 + + + + + + + + NANDO:2200785 + + + + + + + + NANDO:2200894 + + + + + + + + NANDO:1200538 + + + + + + + + NANDO:1200959 + + + + + + + + NANDO:1200983 + + + + + + + + NANDO:2200895 + + + + + + + + NANDO:1200866 + + + + + + + + NANDO:1200584 + NANDO:2201296 + + + + + + + + NANDO:2200772 + + + + + + + + NANDO:2200752 + + + + + + + + NANDO:1200747 + NANDO:1200748 + + + + + + + + NANDO:1200746 + NANDO:1200750 + NANDO:2200200 + + + + + + + + NANDO:2200801 + + + + + + + + NANDO:2200790 + NANDO:2200798 + + + + + + + + NANDO:1200532 + + + + + + + + NANDO:1200533 + + + + + + + + NANDO:2201152 + + + + + + + + NANDO:2200449 + NANDO:2200454 + + + + + + + + NANDO:2200134 + + + + + + + + NANDO:1200834 + + + + + + + + NANDO:1200336 + NANDO:2200710 + + + + + + + + NANDO:1200529 + + + + + + + + NANDO:1200531 + + + + + + + + NANDO:2200053 + + + + + + + + NANDO:1200581 + NANDO:2201293 + + + + + + + + NANDO:1200362 + NANDO:2200763 + + + + + + + + NANDO:2200804 + + + + + + + + NANDO:1200541 + + + + + + + + NANDO:2200007 + + + + + + + + NANDO:1200530 + + + + + + + + NANDO:2200684 + + + + + + + + NANDO:1200578 + NANDO:2201290 + + + + + + + + NANDO:2200784 + + + + + + + + NANDO:1201077 + + + + + + + + NANDO:2200348 + + + + + + + + NANDO:2200448 + + + + + + + + NANDO:1200982 + + + + + + + + NANDO:1201033 + NANDO:2201299 + + + + + + + + NANDO:1201034 + NANDO:2201300 + + + + + + + + NANDO:2200439 + + + + + + + + NANDO:1200429 + + + + + + + + NANDO:2200803 + + + + + + + + NANDO:1200835 + + + + + + + + NANDO:1200833 + + + + + + + + NANDO:2200897 + + + + + + + + NANDO:1200405 + + + + + + + + NANDO:2200734 + + + + + + + + NANDO:1200849 + NANDO:2201166 + + + + + + + + NANDO:2200731 + + + + + + + + NANDO:2200667 + + + + + + + + NANDO:2200447 + + + + + + + + NANDO:2200598 + + + + + + + + NANDO:1200325 + NANDO:2200698 + + + + + + + + NANDO:2200866 + + + + + + + + NANDO:2200688 + + + + + + + + NANDO:2200739 + + + + + + + + NANDO:1200755 + NANDO:2100174 + NANDO:2200611 + + + + + + + + NANDO:1200837 + + + + + + + + NANDO:1200402 + NANDO:2200375 + + + + + + + + NANDO:1200934 + + + + + + + + NANDO:2200777 + + + + + + + + NANDO:2200673 + + + + + + + + NANDO:1200767 + + + + + + + + NANDO:2200741 + + + + + + + + NANDO:2200782 + + + + + + + + NANDO:2200779 + + + + + + + + NANDO:2200793 + + + + + + + + NANDO:1200440 + NANDO:2100265 + + + + + + + + NANDO:2200787 + + + + + + + + NANDO:2200794 + + + + + + + + NANDO:2200788 + + + + + + + + NANDO:2201283 + + + + + + + + NANDO:1200774 + + + + + + + + NANDO:2200719 + + + + + + + + NANDO:1200048 + + + + + + + + NANDO:2200670 + + + + + + + + NANDO:1200244 + NANDO:2200452 + + + + + + + + NANDO:1200540 + + + + + + + + NANDO:1200768 + + + + + + + + NANDO:2200912 + + + + + + + + NANDO:2200455 + + + + + + + + NANDO:1200301 + + + + + + + + NANDO:2200801 + + + + + + + + NANDO:2200587 + + + + + + + + NANDO:1200406 + + + + + + + + NANDO:2200442 + NANDO:2200451 + + + + + + + + NANDO:1200836 + + + + + + + + NANDO:1200726 + + + + + + + + NANDO:2200898 + + + + + + + + NANDO:2200665 + + + + + + + + NANDO:1201037 + + + + + + + + NANDO:2200743 + + + + + + + + NANDO:2200797 + + + + + + + + NANDO:1200995 + NANDO:2200441 + NANDO:2200450 + + + + + + + + NANDO:1201046 + + + + + + + + NANDO:1200952 + + + + + + + + NANDO:2200766 + + + + + + + + NANDO:2200358 + + + + + + + + NANDO:1200994 + NANDO:2200459 + + + + + + + + NANDO:2200770 + + + + + + + + NANDO:2200985 + + + + + + + + NANDO:1201047 + + + + + + + + NANDO:1200218 + + + + + + + + NANDO:2200074 + + + + + + + + NANDO:1200816 + NANDO:2201267 + + + + + + + + NANDO:1200411 + NANDO:2200359 + NANDO:2200360 + + + + + + + + NANDO:2100203 + + + + + + + + NANDO:1201068 + NANDO:1201069 + + + + + + + + NANDO:1200053 + + + + + + + + NANDO:1200054 + + + + + + + + NANDO:2200911 + + + + + + + + NANDO:1200925 + NANDO:2200943 + + + + + + + + NANDO:2100274 + NANDO:2200944 + + + + + + + + NANDO:2100179 + NANDO:2200616 + + + + + + + + NANDO:2200293 + + + + + + + + NANDO:2200414 + + + + + + + + NANDO:2100021 + NANDO:2200146 + + + + + + + + NANDO:1200890 + NANDO:2200614 + + + + + + + + NANDO:1200421 + + + + + + + + NANDO:1200745 + NANDO:2100039 + NANDO:2200209 + + + + + + + + NANDO:2200173 + + + + + + + + NANDO:2100086 + NANDO:2200269 + + + + + + + + NANDO:2200268 + + + + + + + + NANDO:2201054 + + + + + + + + NANDO:1200363 + NANDO:2200764 + + + + + + + + NANDO:1200462 + NANDO:2200967 + + + + + + + + NANDO:1200756 + + + + + + + + NANDO:2100221 + + + + + + + + NANDO:2200843 + + + + + + + + NANDO:1200168 + NANDO:2201248 + + + + + + + + NANDO:2200855 + + + + + + + + NANDO:1200661 + NANDO:2100218 + NANDO:2200824 + + + + + + + + NANDO:1201051 + + + + + + + + NANDO:1201004 + NANDO:2200190 + + + + + + + + NANDO:1200879 + NANDO:2201033 + + + + + + + + NANDO:1200597 + + + + + + + + NANDO:2200284 + + + + + + + + NANDO:2100083 + NANDO:2200263 + + + + + + + + NANDO:1200704 + NANDO:2200250 + + + + + + + + NANDO:1200670 + NANDO:2200977 + + + + + + + + NANDO:1200820 + NANDO:2200500 + + + + + + + + NANDO:2201366 + + + + + + + + NANDO:2100227 + + + + + + + + NANDO:1200971 + NANDO:2200510 + NANDO:2201133 + NANDO:2201134 + + + + + + + + NANDO:1200344 + NANDO:2200717 + + + + + + + + NANDO:2100242 + NANDO:2200888 + + + + + + + + NANDO:2200037 + + + + + + + + NANDO:2200032 + + + + + + + + NANDO:1200600 + NANDO:2100249 + NANDO:2200903 + + + + + + + + NANDO:2201277 + + + + + + + + NANDO:1200622 + NANDO:2200997 + + + + + + + + NANDO:1200016 + NANDO:2200855 + + + + + + + + NANDO:2201016 + + + + + + + + NANDO:1200153 + NANDO:2201242 + + + + + + + + NANDO:2200234 + + + + + + + + NANDO:2200805 + NANDO:2200806 + + + + + + + + NANDO:1200349 + NANDO:2200722 + + + + + + + + NANDO:1200348 + NANDO:2200721 + + + + + + + + NANDO:2200020 + + + + + + + + NANDO:1201042 + NANDO:2200933 + + + + + + + + NANDO:1200383 + + + + + + + + NANDO:2200388 + + + + + + + + NANDO:1200304 + NANDO:1200342 + NANDO:2200715 + + + + + + + + NANDO:1200375 + NANDO:2200324 + + + + + + + + NANDO:2200378 + + + + + + + + NANDO:2200068 + + + + + + + + NANDO:2200071 + + + + + + + + NANDO:2100114 + NANDO:2200321 + + + + + + + + NANDO:1200775 + NANDO:2100124 + NANDO:2200345 + + + + + + + + NANDO:2100132 + + + + + + + + NANDO:1200295 + NANDO:1200301 + NANDO:2100201 + NANDO:2200693 + + + + + + + + NANDO:1200425 + NANDO:2100103 + NANDO:2200298 + + + + + + + + NANDO:2201008 + + + + + + + + NANDO:1200264 + NANDO:2200427 + + + + + + + + NANDO:1200609 + NANDO:2100283 + + + + + + + + NANDO:2200158 + + + + + + + + NANDO:1200937 + + + + + + + + NANDO:1200649 + NANDO:2201259 + + + + + + + + NANDO:1200677 + NANDO:2200832 + + + + + + + + NANDO:1200598 + NANDO:2100246 + NANDO:2200900 + + + + + + + + NANDO:1200594 + + + + + + + + NANDO:1200590 + + + + + + + + NANDO:1200310 + + + + + + + + NANDO:1200960 + NANDO:2200958 + + + + + + + + NANDO:2100217 + + + + + + + + NANDO:2200918 + + + + + + + + NANDO:2201016 + + + + + + + + NANDO:1200187 + + + + + + + + NANDO:2200296 + + + + + + + + NANDO:2200586 + + + + + + + + NANDO:1200075 + NANDO:2201216 + + + + + + + + NANDO:1200077 + NANDO:2201219 + + + + + + + + NANDO:1200495 + NANDO:2200864 + + + + + + + + NANDO:1200496 + + + + + + + + NANDO:1200001 + + + + + + + + NANDO:1200823 + + + + + + + + NANDO:1200457 + + + + + + + + NANDO:1200487 + + + + + + + + NANDO:1200465 + NANDO:2200432 + + + + + + + + NANDO:1200881 + + + + + + + + NANDO:1200161 + NANDO:2200571 + + + + + + + + NANDO:1200403 + NANDO:1200525 + NANDO:2100239 + NANDO:2200357 + NANDO:2200883 + + + + + + + + NANDO:2200635 + + + + + + + + NANDO:1200473 + NANDO:1200474 + NANDO:2200131 + NANDO:2200641 + + + + + + + + NANDO:1200441 + NANDO:1200442 + NANDO:2100264 + + + + + + + + NANDO:2200387 + + + + + + + + NANDO:1200150 + NANDO:2200573 + + + + + + + + NANDO:2200819 + + + + + + + + NANDO:1200699 + NANDO:1200701 + NANDO:1200703 + NANDO:2100079 + NANDO:2200259 + + + + + + + + NANDO:1200701 + + + + + + + + NANDO:1200535 + + + + + + + + NANDO:1200536 + + + + + + + + NANDO:1200065 + NANDO:2201209 + + + + + + + + NANDO:1200098 + NANDO:2201173 + + + + + + + + NANDO:1200099 + NANDO:2201171 + NANDO:2201172 + + + + + + + + NANDO:1200205 + + + + + + + + NANDO:1200294 + + + + + + + + NANDO:2200822 + + + + + + + + NANDO:1201010 + + + + + + + + NANDO:1201011 + + + + + + + + NANDO:1200274 + + + + + + + + NANDO:1200742 + NANDO:2200326 + + + + + + + + NANDO:2200463 + + + + + + + + NANDO:2200159 + + + + + + + + NANDO:1200390 + NANDO:2200332 + NANDO:2200340 + + + + + + + + NANDO:1200035 + + + + + + + + NANDO:1200028 + + + + + + + + NANDO:1200943 + + + + + + + + NANDO:1200944 + + + + + + + + NANDO:1200672 + NANDO:2200956 + + + + + + + + NANDO:2200602 + + + + + + + + NANDO:1200591 + NANDO:2200879 + + + + + + + + NANDO:2201005 + + + + + + + + NANDO:2200735 + + + + + + + + NANDO:2200446 + + + + + + + + NANDO:1200786 + NANDO:2200594 + NANDO:2201076 + + + + + + + + NANDO:2100034 + NANDO:2200203 + NANDO:2200204 + + + + + + + + NANDO:2200275 + + + + + + + + NANDO:2100055 + NANDO:2200230 + + + + + + + + NANDO:1200543 + + + + + + + + NANDO:1200240 + + + + + + + + NANDO:2201094 + + + + + + + + NANDO:2201095 + + + + + + + + NANDO:1200978 + NANDO:2200483 + + + + + + + + NANDO:1200980 + + + + + + + + NANDO:1200642 + NANDO:2100288 + NANDO:2201004 + + + + + + + + NANDO:2200094 + + + + + + + + NANDO:2200086 + + + + + + + + NANDO:2200085 + + + + + + + + NANDO:2200084 + + + + + + + + NANDO:2200089 + + + + + + + + NANDO:2200088 + + + + + + + + NANDO:2200092 + + + + + + + + NANDO:2200097 + + + + + + + + NANDO:2200096 + + + + + + + + NANDO:2200524 + + + + + + + + NANDO:1200516 + NANDO:2200885 + + + + + + + + NANDO:1200183 + NANDO:2100228 + NANDO:2200850 + + + + + + + + NANDO:1200492 + NANDO:2200857 + + + + + + + + NANDO:1200958 + + + + + + + + NANDO:1200490 + NANDO:2200858 + + + + + + + + NANDO:1200013 + + + + + + + + NANDO:2200031 + + + + + + + + NANDO:2200031 + + + + + + + + NANDO:1200874 + + + + + + + + NANDO:2201078 + + + + + + + + NANDO:2201079 + + + + + + + + NANDO:2201080 + + + + + + + + NANDO:2201081 + + + + + + + + NANDO:1200509 + NANDO:2100215 + NANDO:2200814 + + + + + + + + NANDO:2200813 + + + + + + + + NANDO:1200565 + + + + + + + + NANDO:1200566 + + + + + + + + NANDO:1200567 + + + + + + + + NANDO:1200568 + + + + + + + + NANDO:1200569 + + + + + + + + NANDO:2201046 + + + + + + + + NANDO:2201047 + + + + + + + + NANDO:2201048 + + + + + + + + NANDO:1200549 + + + + + + + + NANDO:2100148 + + + + + + + + NANDO:2100143 + NANDO:2200399 + + + + + + + + NANDO:1200998 + NANDO:2201013 + + + + + + + + NANDO:1200577 + NANDO:2201289 + + + + + + + + NANDO:1200188 + + + + + + + + NANDO:1200714 + NANDO:1200723 + + + + + + + + NANDO:1200615 + NANDO:2200991 + + + + + + + + NANDO:1200610 + NANDO:2200987 + + + + + + + + NANDO:1200548 + + + + + + + + NANDO:2100125 + + + + + + + + NANDO:1200923 + NANDO:1200924 + + + + + + + + NANDO:1200648 + NANDO:2201258 + + + + + + + + NANDO:2200630 + + + + + + + + NANDO:2200536 + + + + + + + + NANDO:1200985 + + + + + + + + NANDO:1200986 + + + + + + + + NANDO:1200989 + NANDO:2200496 + + + + + + + + NANDO:2200890 + + + + + + + + NANDO:1200033 + + + + + + + + NANDO:2200916 + + + + + + + + NANDO:2200889 + + + + + + + + NANDO:1200595 + + + + + + + + NANDO:1200787 + NANDO:2201077 + + + + + + + + NANDO:2200792 + + + + + + + + NANDO:2200891 + + + + + + + + NANDO:1201074 + + + + + + + + NANDO:1200355 + NANDO:2200755 + + + + + + + + NANDO:1200458 + NANDO:2200946 + + + + + + + + NANDO:2201343 + + + + + + + + NANDO:1200235 + NANDO:2201341 + NANDO:2201375 + + + + + + + + NANDO:1200236 + NANDO:2201342 + + + + + + + + NANDO:1200824 + + + + + + + + NANDO:1200139 + NANDO:2201229 + + + + + + + + NANDO:2201159 + + + + + + + + NANDO:2201160 + + + + + + + + NANDO:2201161 + + + + + + + + NANDO:2201162 + + + + + + + + NANDO:2200436 + + + + + + + + NANDO:1200969 + + + + + + + + NANDO:2200522 + + + + + + + + NANDO:1200070 + NANDO:2200559 + + + + + + + + NANDO:1200079 + NANDO:2201202 + + + + + + + + NANDO:1200081 + NANDO:2201204 + + + + + + + + NANDO:1200127 + NANDO:2201188 + + + + + + + + NANDO:1200128 + NANDO:2201189 + + + + + + + + NANDO:1200116 + NANDO:2200556 + + + + + + + + NANDO:1200148 + NANDO:2201238 + + + + + + + + NANDO:1200605 + + + + + + + + NANDO:2200605 + + + + + + + + NANDO:1200617 + + + + + + + + NANDO:1200134 + + + + + + + + NANDO:1200209 + + + + + + + + NANDO:2200102 + + + + + + + + NANDO:2201369 + + + + + + + + NANDO:1201049 + + + + + + + + NANDO:2200010 + + + + + + + + NANDO:1200964 + NANDO:2200273 + + + + + + + + NANDO:2200278 + + + + + + + + NANDO:2200633 + + + + + + + + NANDO:1200352 + NANDO:2200726 + + + + + + + + NANDO:1200770 + + + + + + + + NANDO:1200506 + NANDO:1200507 + + + + + + + + NANDO:2200216 + NANDO:2200221 + + + + + + + + NANDO:1200251 + NANDO:2200423 + + + + + + + + NANDO:1200541 + + + + + + + + NANDO:1200212 + + + + + + + + NANDO:2200681 + + + + + + + + NANDO:2100203 + + + + + + + + NANDO:1200340 + NANDO:2200713 + + + + + + + + NANDO:2200648 + + + + + + + + NANDO:1200627 + + + + + + + + NANDO:2201305 + + + + + + + + NANDO:2200964 + + + + + + + + NANDO:2200963 + + + + + + + + NANDO:1200693 + NANDO:2200261 + + + + + + + + NANDO:1200863 + NANDO:2200431 + + + + + + + + NANDO:1200710 + NANDO:2100076 + NANDO:2200256 + + + + + + + + NANDO:2100077 + NANDO:2200257 + + + + + + + + NANDO:1200592 + NANDO:2200878 + + + + + + + + NANDO:1200757 + + + + + + + + NANDO:2201302 + + + + + + + + NANDO:1200066 + NANDO:2200558 + + + + + + + + NANDO:1200056 + NANDO:2200562 + + + + + + + + NANDO:2200038 + + + + + + + + NANDO:1200008 + + + + + + + + NANDO:2200523 + NANDO:2200528 + + + + + + + + NANDO:1200719 + + + + + + + + NANDO:2200686 + + + + + + + + NANDO:2200087 + + + + + + + + NANDO:2100256 + NANDO:2200914 + + + + + + + + NANDO:1200552 + NANDO:2100247 + NANDO:2200901 + + + + + + + + NANDO:1200555 + + + + + + + + NANDO:1200556 + + + + + + + + NANDO:1200245 + NANDO:2100290 + NANDO:2201006 + + + + + + + + NANDO:2201021 + + + + + + + + NANDO:1201020 + NANDO:2200544 + + + + + + + + NANDO:2200054 + NANDO:2200055 + + + + + + + + NANDO:1200743 + + + + + + + + NANDO:1200357 + NANDO:2200757 + + + + + + + + NANDO:1200640 + + + + + + + + NANDO:2100241 + + + + + + + + NANDO:1200903 + NANDO:2200945 + NANDO:2200948 + + + + + + + + NANDO:2200031 + + + + + + + + NANDO:1200394 + NANDO:2201255 + + + + + + + + NANDO:2200456 + + + + + + + + NANDO:1200454 + NANDO:2200807 + + + + + + + + NANDO:1200162 + NANDO:2201234 + + + + + + + + NANDO:2200156 + + + + + + + + NANDO:1200396 + NANDO:1200397 + NANDO:2100134 + NANDO:2200370 + + + + + + + + NANDO:1200749 + + + + + + + + NANDO:1200353 + NANDO:2200745 + + + + + + + + NANDO:1200165 + NANDO:2200576 + + + + + + + + NANDO:1200426 + NANDO:1200428 + + + + + + + + NANDO:1200388 + NANDO:2100138 + NANDO:2200382 + + + + + + + + NANDO:1200656 + NANDO:2201012 + + + + + + + + NANDO:1200761 + + + + + + + + NANDO:2200333 + + + + + + + + NANDO:2200325 + + + + + + + + NANDO:2100133 + NANDO:2200367 + + + + + + + + NANDO:1200300 + NANDO:1200311 + NANDO:2100182 + NANDO:2200621 + + + + + + + + NANDO:1200928 + + + + + + + + NANDO:1200440 + NANDO:2100265 + + + + + + + + NANDO:1200583 + NANDO:2201295 + + + + + + + + NANDO:2200046 + + + + + + + + NANDO:1200930 + + + + + + + + NANDO:1200192 + + + + + + + + NANDO:1200270 + + + + + + + + NANDO:1200634 + + + + + + + + NANDO:1200635 + + + + + + + + NANDO:2200312 + + + + + + + + NANDO:2100261 + NANDO:2200925 + + + + + + + + NANDO:1200466 + NANDO:2200449 + NANDO:2200454 + NANDO:2201068 + + + + + + + + NANDO:1200019 + + + + + + + + NANDO:1200621 + NANDO:2200996 + + + + + + + + NANDO:2200381 + + + + + + + + NANDO:2200934 + + + + + + + + NANDO:2200437 + + + + + + + + NANDO:1200574 + NANDO:2200817 + + + + + + + + NANDO:2100267 + NANDO:2200936 + + + + + + + + NANDO:1200996 + NANDO:2100244 + NANDO:2200893 + + + + + + + + NANDO:1200078 + NANDO:2200560 + + + + + + + + NANDO:1201072 + + + + + + + + NANDO:2200011 + + + + + + + + NANDO:1200675 + + + + + + + + NANDO:2100003 + NANDO:2200019 + + + + + + + + NANDO:1200859 + NANDO:2200465 + + + + + + + + NANDO:1200316 + NANDO:2100189 + NANDO:2200649 + + + + + + + + NANDO:2200231 + + + + + + + + NANDO:1200725 + NANDO:2200123 + + + + + + + + NANDO:2200091 + + + + + + + + NANDO:1200637 + NANDO:1200641 + NANDO:2200986 + + + + + + + + NANDO:2200462 + + + + + + + + NANDO:2200412 + + + + + + + + NANDO:1200307 + NANDO:2200618 + + + + + + + + NANDO:1200339 + NANDO:1200688 + NANDO:2200712 + + + + + + + + NANDO:1200125 + NANDO:2200568 + + + + + + + + NANDO:1200100 + NANDO:2200549 + + + + + + + + NANDO:1200105 + NANDO:2200550 + + + + + + + + NANDO:1200021 + + + + + + + + NANDO:1200015 + + + + + + + + NANDO:1200481 + NANDO:1200482 + NANDO:2200867 + + + + + + + + NANDO:1200480 + NANDO:2200871 + + + + + + + + NANDO:1200216 + + + + + + + + NANDO:2200495 + + + + + + + + NANDO:2200969 + + + + + + + + NANDO:1200478 + NANDO:2200869 + + + + + + + + NANDO:1200500 + + + + + + + + NANDO:2200184 + + + + + + + + NANDO:1200712 + NANDO:2200126 + + + + + + + + NANDO:1200231 + + + + + + + + NANDO:1200225 + NANDO:1200226 + NANDO:2100287 + NANDO:2201003 + + + + + + + + NANDO:1200031 + + + + + + + + NANDO:1200063 + + + + + + + + NANDO:1200018 + + + + + + + + NANDO:1200680 + NANDO:2200413 + + + + + + + + NANDO:1200852 + + + + + + + + NANDO:2200406 + + + + + + + + NANDO:2200043 + + + + + + + + NANDO:1201036 + NANDO:2100015 + NANDO:2200140 + NANDO:2200170 + + + + + + + + NANDO:1200564 + + + + + + + + NANDO:1200017 + + + + + + + + NANDO:2200847 + + + + + + + + NANDO:1200873 + NANDO:2201011 + + + + + + + + NANDO:1200561 + + + + + + + + NANDO:2200082 + + + + + + + + NANDO:1200009 + + + + + + + + NANDO:1100014 + NANDO:2100279 + NANDO:2100280 + + + + + + + + NANDO:1200575 + NANDO:2200836 + + + + + + + + NANDO:2100159 + + + + + + + + NANDO:1200758 + NANDO:2100166 + + + + + + + + NANDO:1100001 + NANDO:2100214 + + + + + + + + NANDO:1200052 + + + + + + + + NANDO:2200138 + + + + + + + + NANDO:2100231 + + + + + + + + NANDO:1200632 + NANDO:1200633 + + + + + + + + NANDO:1200027 + NANDO:2201322 + + + + + + + + NANDO:1200601 + + + + + + + + NANDO:1200262 + NANDO:2200426 + + + + + + + + NANDO:1200283 + NANDO:2100154 + NANDO:2200428 + + + + + + + + NANDO:1200276 + + + + + + + + NANDO:1200898 + + + + + + + + NANDO:2200610 + + + + + + + + NANDO:1201080 + NANDO:2100197 + NANDO:2200689 + + + + + + + + NANDO:1200359 + NANDO:2200759 + + + + + + + + NANDO:1200142 + NANDO:1200143 + NANDO:2200570 + NANDO:2201232 + + + + + + + + NANDO:1200144 + NANDO:2201233 + + + + + + + + NANDO:2200391 + + + + + + + + NANDO:2200368 + + + + + + + + NANDO:2200369 + + + + + + + + NANDO:1200381 + NANDO:2200377 + + + + + + + + NANDO:2200518 + + + + + + + + NANDO:1200261 + NANDO:2200425 + + + + + + + + NANDO:2200228 + + + + + + + + NANDO:1201001 + + + + + + + + NANDO:1200762 + + + + + + + + NANDO:2201031 + + + + + + + + NANDO:1200744 + NANDO:2100296 + NANDO:2201034 + + + + + + + + NANDO:1200461 + NANDO:2200955 + + + + + + + + NANDO:1200929 + + + + + + + + NANDO:1200860 + + + + + + + + NANDO:1200431 + + + + + + + + NANDO:1200420 + + + + + + + + NANDO:1200551 + + + + + + + + NANDO:2100164 + + + + + + + + NANDO:2200506 + + + + + + + + NANDO:1200764 + + + + + + + + NANDO:1200759 + NANDO:2200575 + + + + + + + + NANDO:1200155 + NANDO:2201244 + + + + + + + + NANDO:1200152 + NANDO:2201241 + + + + + + + + NANDO:1200154 + NANDO:2201243 + + + + + + + + NANDO:1200815 + + + + + + + + NANDO:1200137 + + + + + + + + NANDO:1200618 + + + + + + + + NANDO:1200616 + NANDO:1200617 + + + + + + + + NANDO:1200638 + + + + + + + + NANDO:1200232 + + + + + + + + NANDO:1200233 + + + + + + + + NANDO:1200230 + + + + + + + + NANDO:1200881 + + + + + + + + NANDO:1200415 + + + + + + + + NANDO:1200607 + NANDO:2200826 + + + + + + + + NANDO:1200117 + NANDO:2201191 + + + + + + + + NANDO:1200679 + NANDO:2200953 + + + + + + + + NANDO:2200622 + + + + + + + + NANDO:1200933 + + + + + + + + NANDO:1200282 + + + + + + + + NANDO:1200146 + NANDO:2200572 + + + + + + + + NANDO:2200059 + + + + + + + + NANDO:1200303 + NANDO:1200891 + NANDO:2200652 + + + + + + + + NANDO:1200510 + + + + + + + + NANDO:2201274 + + + + + + + + NANDO:1200885 + NANDO:2100178 + NANDO:2200615 + + + + + + + + NANDO:2201362 + + + + + + + + NANDO:2200647 + + + + + + + + NANDO:1200471 + NANDO:2201056 + + + + + + + + NANDO:1200470 + NANDO:2201055 + + + + + + + + NANDO:2201058 + + + + + + + + NANDO:2201060 + + + + + + + + NANDO:1200211 + + + + + + + + NANDO:1200698 + + + + + + + + NANDO:1200956 + + + + + + + + NANDO:2200017 + NANDO:2200018 + + + + + + + + NANDO:2200012 + + + + + + + + NANDO:2200027 + + + + + + + + NANDO:2200030 + + + + + + + + NANDO:2200036 + + + + + + + + NANDO:1200596 + + + + + + + + NANDO:1200589 + + + + + + + + NANDO:2200410 + + + + + + + + NANDO:1200941 + + + + + + + + NANDO:1201000 + + + + + + + + NANDO:1200306 + + + + + + + + NANDO:1200308 + NANDO:2200619 + + + + + + + + NANDO:1200309 + + + + + + + + NANDO:2200640 + + + + + + + + NANDO:1201011 + + + + + + + + NANDO:1200608 + NANDO:2100286 + NANDO:2201002 + + + + + + + + NANDO:2201061 + + + + + + + + NANDO:1200760 + + + + + + + + NANDO:1200377 + + + + + + + + NANDO:1200419 + + + + + + + + NANDO:1200365 + NANDO:2200795 + + + + + + + + NANDO:2200155 + + + + + + + + NANDO:2200161 + + + + + + + + NANDO:2200177 + + + + + + + + NANDO:1200783 + + + + + + + + NANDO:2200111 + + + + + + + + NANDO:2201346 + + + + + + + + NANDO:2201017 + + + + + + + + NANDO:1201062 + + + + + + + + NANDO:2200419 + + + + + + + + NANDO:1200739 + + + + + + + + NANDO:1200318 + NANDO:1200319 + + + + + + + + NANDO:2100156 + + + + + + + + NANDO:1200509 + NANDO:2100215 + NANDO:2200814 + + + + + + + + NANDO:2200923 + + + + + + + + NANDO:1200819 + NANDO:2201270 + + + + + + + + NANDO:2200195 + + + + + + + + NANDO:1200246 + NANDO:2201007 + + + + + + + + NANDO:1200962 + + + + + + + + NANDO:2200313 + + + + + + + + NANDO:2200330 + + + + + + + + NANDO:2200331 + + + + + + + + NANDO:2100112 + NANDO:2200315 + + + + + + + + NANDO:2200875 + + + + + + + + NANDO:1200477 + NANDO:2100234 + + + + + + + + NANDO:2100142 + NANDO:2200397 + + + + + + + + NANDO:2200394 + + + + + + + + NANDO:2200171 + + + + + + + + NANDO:1200776 + NANDO:2100126 + NANDO:2200349 + + + + + + + + NANDO:2200282 + + + + + + + + NANDO:2200118 + + + + + + + + NANDO:2200393 + + + + + + + + NANDO:2200393 + + + + + + + + NANDO:2100095 + NANDO:2200280 + + + + + + + + NANDO:1200645 + NANDO:2200607 + + + + + + + + NANDO:1200953 + NANDO:2100237 + + + + + + + + NANDO:1200861 + + + + + + + + NANDO:1200892 + + + + + + + + NANDO:2200623 + + + + + + + + NANDO:1200305 + NANDO:2100181 + + + + + + + + NANDO:1200486 + NANDO:2100233 + + + + + + + + NANDO:1200931 + + + + + + + + NANDO:2200014 + + + + + + + + NANDO:2200006 + + + + + + + + NANDO:2200017 + + + + + + + + NANDO:2200021 + + + + + + + + NANDO:1200886 + + + + + + + + NANDO:1200889 + NANDO:2200613 + + + + + + + + NANDO:1201079 + + + + + + + + NANDO:1200036 + + + + + + + + NANDO:1200703 + + + + + + + + NANDO:2200281 + + + + + + + + NANDO:1200963 + + + + + + + + NANDO:2200308 + + + + + + + + NANDO:2200290 + + + + + + + + NANDO:2100090 + NANDO:2200274 + + + + + + + + NANDO:2200266 + + + + + + + + NANDO:2200267 + + + + + + + + NANDO:2200266 + + + + + + + + NANDO:2200272 + + + + + + + + NANDO:2200625 + + + + + + + + NANDO:1200899 + + + + + + + + NANDO:1200588 + + + + + + + + NANDO:2100111 + NANDO:2200314 + + + + + + + + NANDO:2200365 + + + + + + + + NANDO:1201070 + + + + + + + + NANDO:1200563 + + + + + + + + NANDO:2200001 + NANDO:2200022 + + + + + + + + NANDO:2100213 + NANDO:2200812 + + + + + + + + NANDO:2200101 + + + + + + + + NANDO:2200674 + + + + + + + + NANDO:2200679 + + + + + + + + NANDO:1200896 + + + + + + + + NANDO:1200630 + NANDO:2201357 + + + + + + + + NANDO:2100248 + NANDO:2200902 + + + + + + + + NANDO:1200367 + NANDO:2200152 + + + + + + + + NANDO:2200087 + + + + + + + + NANDO:1200611 + NANDO:2200988 + + + + + + + + NANDO:2200018 + + + + + + + + NANDO:1200219 + + + + + + + + NANDO:2100046 + NANDO:2200215 + + + + + + + + NANDO:2200915 + + + + + + + + NANDO:1200225 + NANDO:1200226 + NANDO:1200227 + NANDO:2201003 + + + + + + + + NANDO:2201317 + + + + + + + + NANDO:2100204 + + + + + + + + NANDO:1200897 + + + + + + + + NANDO:1201048 + + + + + + + + NANDO:2100061 + NANDO:2200236 + + + + + + + + NANDO:2100082 + NANDO:2200262 + + + + + + + + NANDO:2201111 + + + + + + + + NANDO:1200438 + + + + + + + + NANDO:1200240 + NANDO:2100285 + NANDO:2201001 + + + + + + + + NANDO:1200011 + + + + + + + + NANDO:1201068 + NANDO:1201069 + + + + + + + + NANDO:1200127 + NANDO:2201188 + + + + + + + + NANDO:2201016 + + + + + + + + NANDO:1200601 + + + + + + + + NANDO:1200011 + + + + + + + + NANDO:1200841 + + + + + + + + NANDO:2200471 + + + + + + + + NANDO:2100295 + + + + + + + + NANDO:1200781 + NANDO:2100144 + NANDO:2200401 + + + + + + + + NANDO:1200778 + NANDO:1200780 + NANDO:2200402 + NANDO:2200403 + + + + + + + + NANDO:1200643 + + + + + + + + NANDO:2100023 + + + + + + + + NANDO:1200537 + + + + + + + + NANDO:1200408 + + + + + + + + NANDO:1200208 + + + + + + + + NANDO:2200682 + + + + + + + + NANDO:1100015 + + + + + + + + NANDO:2100070 + + + + + + + + NANDO:2200398 + + + + + + + + NANDO:2200106 + + + + + + + + NANDO:1200219 + + + + + + + + NANDO:1200913 + NANDO:2200930 + + + + + + + + NANDO:1200649 + NANDO:2201259 + + + + + + + + NANDO:1200193 + + + + + + + + NANDO:2100164 + + + + + + + + NANDO:2100162 + + + + + + + + NANDO:2100160 + + + + + + + + NANDO:1200811 + + + + + + + + NANDO:2100216 + NANDO:2200816 + NANDO:2201287 + + + + + + + + NANDO:2200306 + + + + + + + + NANDO:2100220 + + + + + + + + NANDO:1200628 + + + + + + + + NANDO:2201057 + + + + + + + + NANDO:1200265 + + + + + + + + NANDO:1200275 + + + + + + + + NANDO:2200351 + + + + + + + + NANDO:2100188 + + + + + + + + NANDO:2200039 + + + + + + + + NANDO:1200612 + NANDO:2200989 + + + + + + + + NANDO:2200684 + + + + + + + + NANDO:1201067 + + + + + + + + NANDO:1200511 + + + + + + + + NANDO:1200512 + + + + + + + + NANDO:2100003 + NANDO:2200019 + + + + + + + + NANDO:2100200 + NANDO:2200692 + + + + + + + + NANDO:2200023 + + + + + + + + NANDO:1200173 + NANDO:2100163 + + + + + + + + NANDO:2100161 + + + + + + + + NANDO:1200346 + + + + + + + + NANDO:1200595 + + + + + + + + NANDO:1200593 + + + + + + + + NANDO:2200595 + + + + + + + + NANDO:2200662 + + + + + + + + NANDO:1200180 + + + + + + + + NANDO:1200587 + NANDO:2200877 + + + + + + + + NANDO:1200162 + NANDO:2201234 + + + + + + + + NANDO:2200605 + + + + + + + + NANDO:2200737 + + + + + + + + NANDO:2200999 + + + + + + + + NANDO:1200997 + NANDO:2200458 + + + + + + + + NANDO:1200180 + + + + + + + diff --git a/src/ontology/external/nando-mappings.robot.tsv b/src/ontology/external/nando-mappings.robot.tsv index bc2c775d..64a5aa97 100644 --- a/src/ontology/external/nando-mappings.robot.tsv +++ b/src/ontology/external/nando-mappings.robot.tsv @@ -1,2347 +1,2347 @@ subject_id subject_label object_id object_label equivalence ORCID ID A oboInOwl:hasDbXref >A oboInOwl:source >A oboInOwl:source SPLIT=| -NANDO:1100001 Neuromuscular disease MONDO:0019056 neuromuscular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100002 Metabolic disease MONDO:0004955 obsolete metabolic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100002 Metabolic disease MONDO:0005066 metabolic disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100004 Immune system disease MONDO:0005046 immune system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100005 Cardiovascular disease MONDO:0004995 cardiovascular disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100006 Blood disease MONDO:0005570 hematologic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100009 Endocrine disease MONDO:0005151 endocrine system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100010 Respiratory disease MONDO:0005087 respiratory system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100013 Gastrointestinal disease MONDO:0004335 digestive system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100014 Chromosome abnormality MONDO:0019040 chromosomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1100015 Otorhinolaryngological disease MONDO:0024623 otorhinolaryngologic disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200001 Spinal and bulbar muscular atrophy MONDO:0010735 Kennedy disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200001 Spinal and bulbar muscular atrophy MONDO:0016113 bulbospinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200002 Amyotrophic lateral sclerosis MONDO:0004976 amyotrophic lateral sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200003 Spinal muscular atrophy MONDO:0001516 spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200004 Spinal muscular atrophy type I MONDO:0009669 spinal muscular atrophy, type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200005 Spinal muscular atrophy type II MONDO:0009673 spinal muscular atrophy, type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200006 Spinal muscular atrophy type III MONDO:0009672 spinal muscular atrophy, type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200007 Spinal muscular atrophy type IV MONDO:0010056 spinal muscular atrophy, type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200008 Primary lateral sclerosis MONDO:0018155 lateral sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200009 Progressive supranuclear palsy MONDO:0019037 progressive supranuclear palsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200010 Parkinson's disease MONDO:0005180 Parkinson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200011 Corticobasal degeneration MONDO:0022308 corticobasal degeneration disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200011 Corticobasal degeneration MONDO:0022880 obsolete corticobasal degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200012 Huntington's disease MONDO:0007739 Huntington disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200013 Neuroacanthocytosis MONDO:0016987 neuroacanthocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200014 Chorea-acanthocytosis MONDO:0008695 chorea-acanthocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200015 McLeod syndrome MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200016 Charcot-Marie-Tooth disease MONDO:0015626 Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200017 Charcot-Marie-Tooth disease type 1 MONDO:0019011 Charcot-Marie-Tooth disease type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200018 Charcot-Marie-Tooth disease type 2 MONDO:0018993 Charcot-Marie-Tooth disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200019 Intermediate Charcot-Marie-Tooth disease MONDO:0018778 intermediate Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200020 Myasthenia gravis MONDO:0009688 myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200021 Congenital myasthenic syndrome MONDO:0018940 congenital myasthenic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200023 Multiple sclerosis MONDO:0005301 multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200024 Relapsing-remitting multiple sclerosis MONDO:0005314 relapsing-remitting multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200025 Primary progressive multiple sclerosis MONDO:0000451 primary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200026 Secondary progressive multiple sclerosis MONDO:0000450 secondary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200027 Neuromyelitis optica spectrum disorders MONDO:0019100 neuromyelitis optica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200028 Baló concentric sclerosis MONDO:0016430 Balo concentric sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:0007691 Guillain-Barre syndrome, familial MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200031 Multifocal motor neuropathy MONDO:0018979 multifocal motor neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200032 Sporadic inclusion body myositis MONDO:0007827 inclusion body myositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200033 Crow-Fukase syndrome MONDO:0017364 POEMS syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200034 Multiple system atrophy MONDO:0007803 multiple system atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200035 Multiple system atrophy, cerebellar type MONDO:0016418 multiple system atrophy, cerebellar type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200036 Multiple system atrophy, Parkinsonian type MONDO:0020352 multiple system atrophy, parkinsonian type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200037 Spinocerebellar degeneration MONDO:0000437 cerebellar ataxia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200041 Spinocerebellar ataxia type 3 MONDO:0007182 Machado-Joseph disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200042 Spinocerebellar ataxia type 6 MONDO:0008457 spinocerebellar ataxia type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200043 Dentatorubropallidoluysian atrophy MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200044 Spinocerebellar ataxia type 31 MONDO:0007296 spinocerebellar ataxia type 31 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200045 Spinocerebellar ataxia type 1 MONDO:0008119 spinocerebellar ataxia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200046 Spinocerebellar ataxia type 2 MONDO:0008458 spinocerebellar ataxia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200047 Spinocerebellar ataxia type 7 MONDO:0008120 obsolete spinocerebellar ataxia type 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200048 Spinocerebellar ataxia type 36 MONDO:0013594 spinocerebellar ataxia type 36 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200050 Ataxia with isolated vitamin E deficiency MONDO:0010188 familial isolated deficiency of vitamin E MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200051 Ataxia-oculomotor apraxia type 1 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200052 Hereditary spastic paraplegia MONDO:0019064 hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200053 Pure hereditary spastic paraplegia MONDO:0015149 pure hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200054 Complex hereditary spastic paraplegia MONDO:0015150 complex hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200055 Lysosomal storage disease MONDO:0002561 lysosomal storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200056 Gaucher disease MONDO:0018150 Gaucher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200057 Gaucher disease type 1 MONDO:0009265 Gaucher disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200058 Gaucher disease type 2 MONDO:0009266 Gaucher disease type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200059 Gaucher disease type 3 MONDO:0009267 Gaucher disease type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200061 Niemann-Pick disease type A MONDO:0009756 Niemann-Pick disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200062 Niemann-Pick disease type B MONDO:0011871 Niemann-Pick disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200063 Niemann-Pick disease type C MONDO:0018982 Niemann-Pick disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200065 Adult-onset Niemann-Pick disease type C MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200066 GM1 gangliosidosis MONDO:0018149 GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200067 Infantile GM1 gangliosidosis MONDO:0009260 GM1 gangliosidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200068 Juvenile GM1 gangliosidosis MONDO:0009261 GM1 gangliosidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200069 Adult GM1 gangliosidosis MONDO:0009262 GM1 gangliosidosis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200070 GM2 gangliosidosis MONDO:0017720 GM2 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200071 Tay-Sachs disease MONDO:0010100 Tay-Sachs disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200072 Sandhoff disease MONDO:0010006 Sandhoff disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200073 GM2 gangliosidosis AB variant MONDO:0010099 Tay-Sachs disease AB variant MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200074 Krabbe disease MONDO:0009499 Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200075 Infantile Krabbe disease MONDO:0016089 infantile Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200077 Adult Krabbe disease MONDO:0016091 adult Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200078 Metachromatic leukodystrophy MONDO:0018868 metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200079 Late infantile metachromatic leukodystrophy MONDO:0017729 metachromatic leukodystrophy, late infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200080 Juvenile ｍetachromatic leukodystrophy MONDO:0009591 metachromatic leukodystrophy, juvenile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200081 Adult metachromatic leukodystrophy MONDO:0017730 metachromatic leukodystrophy, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200082 Saposin B deficiency MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200083 Multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200086 Farber disease MONDO:0009218 Farber lipogranulomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200094 Hurler syndrome MONDO:0011758 Hurler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200095 Scheie syndrome MONDO:0011760 Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200096 Hurler-Scheie syndrome MONDO:0011759 Hurler-Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200097 Hunter syndrome MONDO:0010674 mucopolysaccharidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200098 Hunter syndrome type A MONDO:0016315 mucopolysaccharidosis type 2, severe form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200099 Hunter syndrome type B MONDO:0016316 mucopolysaccharidosis type 2, attenuated form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200100 Sanfilippo disease MONDO:0018937 mucopolysaccharidosis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200101 Sanfilippo disease type A MONDO:0009655 mucopolysaccharidosis type 3A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200102 Sanfilippo disease type B MONDO:0009656 mucopolysaccharidosis type 3B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200103 Sanfilippo disease type C MONDO:0009657 mucopolysaccharidosis type 3C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200104 Sanfilippo disease type D MONDO:0009658 mucopolysaccharidosis type 3D MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200105 Morquio syndrome MONDO:0018938 mucopolysaccharidosis type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200106 Morquio syndrome type A MONDO:0009659 mucopolysaccharidosis type 4A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200107 Morquio syndrome type B MONDO:0009660 mucopolysaccharidosis type 4B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200108 Maroteaux-Lamy syndrome MONDO:0009661 mucopolysaccharidosis type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form MONDO:0009661 mucopolysaccharidosis type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form MONDO:0009661 mucopolysaccharidosis type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200111 Sly syndrome MONDO:0009662 mucopolysaccharidosis type 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200115 Hyaluronidase deficiency MONDO:0011093 mucopolysaccharidosis type 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200116 Sialidosis MONDO:0017734 sialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200117 Sialidosis type 1 MONDO:0019346 sialidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200118 Sialidosis type 2 MONDO:0009738 sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200119 Galactosialidosis MONDO:0009737 galactosialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200120 Galactosialidosis, early infantile form MONDO:0009738 sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200124 Mucolipidosis II MONDO:0009650 mucolipidosis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200125 Mucolipidosis III MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200126 Alpha-mannosidosis MONDO:0009561 alpha-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200127 Alpha-mannosidosis, infantile form MONDO:0017732 alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200127 Alpha-mannosidosis, infantile form MONDO:0022424 alpha-mannosidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200128 Alpha-mannosidosis, adult form MONDO:0017733 alpha-mannosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200129 Beta-mannosidosis MONDO:0009562 beta-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200130 Fucosidosis MONDO:0009254 fucosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200133 Aspartylglucosaminuria MONDO:0008830 aspartylglucosaminuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200134 Schindler disease MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200135 Schindler disease type I MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200136 Schindler disease type 2 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200137 Schindler disease type 3 MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200138 Pompe disease MONDO:0009290 glycogen storage disease II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200139 Classic infantile Pompe disease MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200142 Acid lipase deficiency MONDO:0019148 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200143 Wolman disease MONDO:0019148 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200144 Cholesterol ester storage disease MONDO:0019149 cholesteryl ester storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200145 Danon disease MONDO:0010281 Danon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200146 Free sialic acid storage disease MONDO:0019366 free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200147 Infantile free sialic acid storage disease MONDO:0010027 free sialic acid storage disease, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200148 Intermediate severe Salla disease MONDO:0017737 intermediate severe Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200149 Salla disease MONDO:0011449 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200150 Neuronal ceroid-lipofuscinosis MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200151 Congenital neuronal ceroid lipofuscinosis MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200155 Adult neuronal ceroid lipofuscinosis MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200157 Fabry disease MONDO:0010526 Fabry disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200161 Cystinosis MONDO:0016239 cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200162 Nephropathic cystinosis MONDO:0018467 nephropathic infantile cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200162 Nephropathic cystinosis MONDO:0100151 nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200163 Intermediate cystinosis MONDO:0009066 juvenile nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200164 Non-nephropathic cystinosis MONDO:0009064 ocular cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200165 Adrenoleukodystrophy MONDO:0018544 adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200166 Childhood cerebral adrenoleukodystrophy MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200168 Adrenomyeloneuropathy MONDO:0015339 adrenomyeloneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200173 Mitochondrial diseases MONDO:0004069 inborn mitochondrial metabolism disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200173 Mitochondrial diseases MONDO:0044970 mitochondrial disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200174 Chronic progressive external ophthalmoplegia MONDO:0005181 progressive external ophthalmoplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200175 Leigh's encephalomyelopathy MONDO:0009723 Leigh syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome MONDO:0010789 MELAS syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers MONDO:0010790 MERRF syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200178 Leber hereditary optic neuropathy MONDO:0010788 Leber hereditary optic neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200180 Mitochondrial complex I deficiency MONDO:0100133 mitochondrial complex I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200180 Mitochondrial complex I deficiency MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200181 Mitochondrial complex II deficiency MONDO:0009641 obsolete mitochondrial complex II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200183 Moyamoya disease MONDO:0016820 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200186 Prion disease MONDO:0005429 prion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200187 Sporadic Creutzfeldt-Jakob disease MONDO:0016079 sporadic Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200188 Genetic prion diseases MONDO:0017234 inherited prion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200189 Familial Creutzfeldt-Jakob disease MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200191 Fatal familial insomnia MONDO:0010808 fatal familial insomnia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease MONDO:0018686 acquired Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200194 Variant Creutzfeldt-Jakob disease MONDO:0007012 variant Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200195 Subacute sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200196 Typical subacute sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200198 Subacute progressive sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200205 Progressive multifocal leukoencephalopathy MONDO:0016318 progressive multifocal leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200206 HTLV-1-associated myelopathy MONDO:0008039 tropical spastic paraparesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200207 Idiopathic basal ganglia calcification MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200208 Familial idiopathic basal ganglia calcification MONDO:0024538 basal ganglia calcification, idiopathic, 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200209 Systemic amyloidosis MONDO:0017816 primary systemic amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200211 Amyloid light-chain amyloidosis MONDO:0019438 AL amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200212 Transthyretin-related senile systemic amyloidosis MONDO:0018018 wild type ATTR amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200214 Familial amyloid polyneuropathy MONDO:0007100 familial amyloid neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200215 Ullrich disease MONDO:0000355 Ullrich congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200215 Ullrich disease MONDO:0009681 Ullrich congenital muscular dystrophy 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200216 Distal myopathy MONDO:0018949 distal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200217 Miyoshi myopathy MONDO:0009685 Miyoshi myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:0007827 inclusion body myositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:0011603 GNE myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:0014945 myopathy, distal, with rimmed vacuoles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200219 Oculopharyngodistal myopathy MONDO:0020793 oculopharyngodistal myopathy 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200219 Oculopharyngodistal myopathy MONDO:0025193 oculopharyngodistal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200220 Bethlem Myopathy MONDO:0008029 Bethlem myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200222 Danon disease MONDO:0010281 Danon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200223 X-linked Myopathy with excessive autophagy MONDO:0010684 X-linked myopathy with excessive autophagy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200224 Schwartz-Jampel syndrome MONDO:0009717 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200225 Neurofibromatosis MONDO:0018975 neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200225 Neurofibromatosis MONDO:0021061 neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200226 Neurofibromatosis type 1 MONDO:0018975 neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200226 Neurofibromatosis type 1 MONDO:0021061 neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200227 Neurofibromatosis type 2 MONDO:0007039 neurofibromatosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200227 Neurofibromatosis type 2 MONDO:0021061 neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200228 Pemphigus MONDO:0006594 pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200229 Pemphigus vulgaris MONDO:0008219 pemphigus vulgaris MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200230 Pemphigus foliaceus MONDO:0019324 pemphigus foliaceus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200231 Paraneoplastic pemphigus MONDO:0018974 paraneoplastic pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200232 Pemphigus vegetans MONDO:0019322 pemphigus vegetans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200233 Pemphigus erythematosus MONDO:0019323 pemphigus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200234 Epidermolysis bullosa MONDO:0006541 epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200235 Epidermolysis bullosa simplex MONDO:0017610 epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200236 Junctional epidermolysis bullosa MONDO:0017612 junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200238 Recessive dystrophic epidermolysis bullosa MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200239 Kindler syndrome MONDO:0008260 Kindler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200240 Pustular psoriasis MONDO:0016597 obsolete generalized pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200240 Pustular psoriasis MONDO:0022205 pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200243 Impetigo herpetiformis MONDO:0004591 impetigo herpetiformis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200244 Acrodermatitis continua of Hallopeau MONDO:0013626 psoriasis 14, pustular MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200245 Stevens-Johnson syndrome MONDO:0018229 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200246 Toxic epidermal necrolysis MONDO:0019810 toxic epidermal necrolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200251 Takayasu arteritis MONDO:0006656 aortitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200251 Takayasu arteritis MONDO:0017991 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200258 Giant cell arteritis MONDO:0008538 temporal arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200259 Cranial giant cell arteritis MONDO:0008538 temporal arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200260 Large-vessel giant cell arteritis MONDO:0008538 temporal arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200261 Polyarteritis nodosa MONDO:0019170 polyarteritis nodosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200262 Microscopic polyangiitis MONDO:0019124 microscopic polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200263 Granulomatosis with polyangiitis MONDO:0012105 granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200264 Eosinophilic granulomatosis with polyangiitis MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200265 Rheumatoid vasculitis MONDO:0043267 rheumatoid vasculitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200266 Buerger's disease MONDO:0008889 thromboangiitis obliterans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200267 Primary antiphospholipid antibody syndrome MONDO:0005204 primary antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200270 Catastrophic antiphospholipid syndrome MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200271 Antiphospholipid antibody-related disease MONDO:0007140 obsolete antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200272 Systemic lupus erythematosus MONDO:0007915 systemic lupus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200274 Dermatomyositis MONDO:0016367 dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200275 Amyopathic dermatomyositis MONDO:0043317 amyopathic dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200276 Polymyositis MONDO:0019127 polymyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200277 Systemic sclerosis MONDO:0005100 systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200278 Mixed connective tissue disease MONDO:0005854 mixed connective tissue disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200279 Sjogren's syndrome MONDO:0010030 Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200280 Primary Sjogren's syndrome MONDO:0010030 Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200282 Adult Still's disease MONDO:0019355 adult-onset Still disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200283 Relapsing polychondritis MONDO:0019125 relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200284 Behcet's disease MONDO:0007191 Behcet disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200286 Hypertrophic cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200288 Hypertrophic obstructive cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200292 Restrictive cardiomyopathy MONDO:0005201 restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200293 Idiopathic restrictive cardiomyopathy MONDO:0005201 restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200294 Secondary restrictive cardiomyopathy MONDO:0016345 non-familial restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200295 Aplastic anemia MONDO:0015909 aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200296 Idiopathic aplastic anemia MONDO:0012197 idiopathic aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200301 Borderline between aplastic anemia and MDS MONDO:0013851 autosomal dominant aplasia and myelodysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200301 Borderline between aplastic anemia and MDS MONDO:0015909 aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200302 Congenital aplastic anemia MONDO:0001713 inherited aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200303 Fanconi anemia MONDO:0019391 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200304 Dyskeratosis congenita MONDO:0015780 dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200305 Autoimmune hemolytic anemia MONDO:0020108 autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200306 Warm antibody hemolytic anemia MONDO:0019532 autoimmune hemolytic anemia, warm type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200307 Cold agglutinin disease MONDO:0018922 cold agglutinin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200308 Paroxysmal cold hemoglobinuria MONDO:0019533 paroxysmal cold hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200309 Mixed-type autoimmune hemolytic anemia MONDO:0019534 mixed-type autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200310 Evans syndrome MONDO:0016030 Evans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200311 Paroxysmal nocturnal hemoglobinuria MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200315 Idiopathic thrombocytopenic purpura MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200316 Thrombotic thrombocytopenic purpura MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200317 Congenital thrombotic thrombocytopenic purpura MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200319 Secondary thrombotic thrombocytopenic purpura MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200320 Primary immunodeficiency syndrome MONDO:0003778 inborn error of immunity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200321 X-linked severe combined immunodeficiency MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200322 Reticular dysgenesis MONDO:0009973 reticular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200323 Adenosine deaminase deficiency MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200324 Omenn syndrome MONDO:0011338 Omenn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200325 Purine nucleoside phosphorylase deficiency MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200326 CD8 deficiency MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200327 Zap-70 deficiency MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200328 MHC class I deficiency MONDO:0011476 MHC class I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200329 MHC class II deficiency MONDO:0008855 MHC class II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200330 Wiskott-Aldrich syndrome MONDO:0010518 Wiskott-Aldrich syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200331 Ataxia telangiectasia MONDO:0008840 ataxia telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200332 Nijmegen breakage syndrome MONDO:0009623 Nijmegen breakage syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200333 Bloom syndrome MONDO:0008876 Bloom syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200334 ICF syndrome MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200336 RIDDLE syndrome MONDO:0012764 RIDDLE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200337 Schimke syndrome MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200338 Netherton syndrome MONDO:0009735 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200339 Thymus hypoplasia MONDO:0008564 DiGeorge syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200339 Thymus hypoplasia MONDO:0008644 velocardiofacial syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200339 Thymus hypoplasia MONDO:0018923 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200340 Hyper-IgE syndrome MONDO:0018037 hyper-IgE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200342 Dyskeratosis congenita MONDO:0015780 dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200343 X-linked agammaglobulinemia MONDO:0010421 Bruton-type agammaglobulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200344 Common variable immunodeficiency MONDO:0015517 common variable immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200345 Hyper-IgM syndrome MONDO:0003947 hyper-IgM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200346 IgG subclass deficiency MONDO:0045045 selective IgG immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200347 Selective IgA deficiency MONDO:0001341 selective IgA deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200350 Chédiak-Higashi syndrome MONDO:0008963 Chediak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200351 X-linked lymphoproliferative syndrome MONDO:0010627 X-linked lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200352 Autoimmune lymphoproliferative syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200353 Severe congenital neutropenia MONDO:0018542 severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200354 Cyclic neutropenia MONDO:0008090 cyclic hematopoiesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200355 Leukocyte adhesion deficiency MONDO:0017570 leukocyte adhesion deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200356 Shwachman-Diamond syndrome MONDO:0009833 Shwachman-Diamond syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200357 Chronic granulomatous disease MONDO:0018305 chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200358 Myeloperoxidase deficiency MONDO:0009694 myeloperoxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200359 Mendelian susceptibility to mycobacterial disease MONDO:0019146 inherited susceptibility to mycobacterial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200361 IRAK4 deficiency MONDO:0011888 immunodeficiency 67 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200362 MyD88 deficiency MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200363 Chronic mucocutaneous candidiasis MONDO:0015279 chronic mucocutaneous candidiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200364 Inherited deficiency of complement system MONDO:0003832 complement deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200365 Hereditary angioedema MONDO:0007361 C1 inhibitor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200365 Hereditary angioedema MONDO:0019623 hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200366 IgA nephropathy MONDO:0005342 IgA glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200367 Polycystic kidney disease MONDO:0020642 polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200368 Autosomal dominant polycystic kidney disease MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200369 Autosomal recessive polycystic kidney disease MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200371 Ossification of posterior longitudinal ligament MONDO:0011230 ossification of the posterior longitudinal ligament of the spine MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200372 Coexisting cervical and lumbar spinal stenosis MONDO:0005965 spinal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200373 Idiopathic osteonecrosis of femoral head MONDO:0012126 familial avascular necrosis of femoral head MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200375 Central diabetes insipidus MONDO:0015790 central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:0006802 inappropriate ADH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome MONDO:0019611 TSH-secreting pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200379 Cushing disease MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200381 Central precocious puberty MONDO:0019165 central precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200382 Idiopathic hypogonadotropic hypogonadism MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200383 Congenital hypogonadotropic hypogonadism MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200385 Growth hormone secreting pituitary adenoma MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200387 Hypopituitarism syndrome MONDO:0005152 hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200388 Hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200390 Thyroid-stimulating hormone deficiency MONDO:0016410 central congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200394 Homozygous familial hypercholesterolemia MONDO:0018328 homozygous familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200395 Resistance to thyroid hormone MONDO:0001328 thyroid hormone resistance syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200395 Resistance to thyroid hormone MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200396 Congenital adrenal enzyme deficiency MONDO:0018479 congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200397 Congenital lipoid adrenal hyperplasia MONDO:0018479 congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200399 21-Hydroxylase deficiency MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200400 11-β-Hydroxylase deficiency MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200401 17-α-Hydroxylase deficiency MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200402 P450 oxidoreductase deficiency MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200403 Congenital adrenal hypoplasia MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200403 Congenital adrenal hypoplasia MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200404 DAX1 abnormality MONDO:0010226 46,XY sex reversal 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200405 SF-1 abnormality MONDO:0013066 46,XY sex reversal 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200406 IMAge syndrome MONDO:0013873 IMAGe syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200408 MC2R deficiency MONDO:0024536 glucocorticoid deficiency 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200409 MRAP deficiency MONDO:0011826 glucocorticoid deficiency 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200410 Allgrove syndrome MONDO:0009279 triple-A syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200411 Addison's disease MONDO:0009410 obsolete Addison disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200411 Addison's disease MONDO:0015129 chronic primary adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200412 Autoimmune Addison's disease MONDO:0009410 obsolete Addison disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200415 Sarcoidosis MONDO:0019338 sarcoidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200416 Idiopathic interstitial pneumonia MONDO:0002429 idiopathic interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200417 Idiopathic pulmonary fibrosis MONDO:0008345 obsolete idiopathic pulmonary fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200419 Non-specific interstitial pneumonia MONDO:0019622 non-specific interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200420 Acute interstitial pneumonia MONDO:0019203 acute interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200421 Cryptogenic organizing pneumonia MONDO:0015264 cryptogenic organizing pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200422 Desquamative interstitial pneumonia MONDO:0009887 desquamative interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease MONDO:0009887 desquamative interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200424 Lymphoid interstitial pneumonia MONDO:0009537 lymphoid interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200425 Pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200427 Pulmonary veno-occlusive disease MONDO:0009937 pulmonary venoocclusive disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200428 Pulmonary capillary hemangiomatosis MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200429 Chronic thromboembolic pulmonary hypertension MONDO:0013024 chronic thromboembolic pulmonary hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200430 Lymphangioleiomyomatosis MONDO:0011705 lymphangioleiomyomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200431 Retinitis pigmentosa MONDO:0019200 retinitis pigmentosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200437 Budd-Chiari syndrome MONDO:0010947 Budd-Chiari syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200438 Idiopathic portal hypertension MONDO:0021969 Banti syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200439 Primary biliary cholangitis MONDO:0005388 primary biliary cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200440 Primary sclerosing cholangitis MONDO:0013433 primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200440 Primary sclerosing cholangitis MONDO:0018646 sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200441 Autoimmune hepatitis MONDO:0016264 autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200442 Typical autoimmune hepatitis MONDO:0016264 autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200444 Crohn's disease MONDO:0005011 Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200445 small bowel Crohn disease MONDO:0005539 small bowel Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200446 Colonic Crohn's disease MONDO:0005011 Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200446 Colonic Crohn's disease MONDO:0005532 Crohn's colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200447 Crohn ileocolitis MONDO:0005534 ileocolitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200449 Ulcerative colitis MONDO:0005101 ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200450 Pan-ulcerative colitis MONDO:0005536 pancolitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200451 Left-sided colitis MONDO:0005533 distal colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200454 Eosinophilic gastrointestinal disorders MONDO:0018438 eosinophilic gastrointestinal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200456 Eosinophilic esophagitis MONDO:0005361 eosinophilic esophagitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200457 Eosinophilic gastroenteritis MONDO:0016129 eosinophilic gastroenteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction MONDO:0017574 chronic intestinal pseudoobstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200460 Congenital isolated hypoganglionosis MONDO:0008738 aganglionosis, total intestinal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200461 Rubinstein-Taybi syndrome MONDO:0019188 Rubinstein-Taybi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200462 CFC Syndrome MONDO:0015280 cardiofaciocutaneous syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200463 Costello syndrome MONDO:0009026 Costello syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200464 CHARGE syndrome MONDO:0008965 CHARGE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200465 Cryopyrin-associated periodic syndrome MONDO:0016168 cryopyrin-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200466 Familial cold autoinflammatorysyndrome MONDO:0018768 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200467 Muckle-Wells syndrome MONDO:0008633 Muckle-Wells syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome MONDO:0011776 CINCA syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200469 Juvenile idiopathic arthritis MONDO:0011429 juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200470 Systemic juvenile idiopathic arthritis MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200471 Articular-type juvenile idiopathic arthritis MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200472 TNF receptor-associated periodic fever syndrome MONDO:0007727 autosomal dominant familial periodic fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200473 Atypical hemolytic uremic syndrome MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200474 Congenital atypical hemolytic uremic syndrome MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200476 Blau syndrome MONDO:0008523 Blau syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200477 Congenital myopathy MONDO:0019952 congenital myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200478 Nemaline myopathy MONDO:0018958 nemaline myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200479 Central core disease MONDO:0007294 central core myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200480 Minicore myopathy MONDO:0018948 multiminicore myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200481 Myotubular myopathy MONDO:0018947 centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200482 Centronuclear myopathy MONDO:0002921 congenital structural myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200482 Centronuclear myopathy MONDO:0018947 centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200483 Congenital fiber-type disproportion myopathy MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200485 Marinesco-Sjogren syndrome MONDO:0009567 Marinesco-Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200486 Muscular dystrophy MONDO:0020121 muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200487 Dystrophinopathies MONDO:0016147 qualitative or quantitative defects of dystrophin MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200488 Duchenne muscular dystrophy MONDO:0010679 Duchenne muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200489 Becker muscular dystrophy MONDO:0010311 Becker muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200490 Limb-girdle muscular dystrophy MONDO:0016971 limb-girdle muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200491 Facioscapulohumeral muscular dystrophy MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200492 Emery-Dreifuss muscular dystrophy MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200493 Oculopharyngeal muscular dystrophy MONDO:0008116 oculopharyngeal muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200494 Fukuyama type congenital muscular dystrophy MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200495 Myotonic dystrophy MONDO:0016107 myotonic dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200496 Non-dystrophic myotonia MONDO:0016110 obsolete non-dystrophic myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200497 Myotonia congenita MONDO:0009710 Thomsen and Becker disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200498 Thomsen disease MONDO:0009710 Thomsen and Becker disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200499 Becker disease MONDO:0009715 myotonia congenita, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200500 Sodium channel myotonia MONDO:0018959 potassium-aggravated myotonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200501 Paramyotonia congenita MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200502 Hereditary periodic paralysis MONDO:0000995 familial periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200503 Hereditary hypokalemic periodic paralysis MONDO:0008223 hypokalemic periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200504 Hereditary hyperkalemic periodic paralysis MONDO:0008224 hyperkalemic periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200506 Syringomyelia MONDO:0017987 syringomyelia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200507 Symptomatic syringomyelia MONDO:0017987 syringomyelia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200509 Myelomeningocele MONDO:0017069 spina bifida cystica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200509 Myelomeningocele MONDO:0019773 myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200510 Isaacs syndrome MONDO:0019399 Isaac syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200511 Hereditary dystonia MONDO:0044807 inherited dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200512 Dystonia 1 MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200512 Dystonia 1 MONDO:0044808 obsolete early onset primary dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200513 Dystonia 2 MONDO:0009141 torsion dystonia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200514 Dystonia 3 MONDO:0010747 X-linked dystonia-parkinsonism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200515 Dystonia 4 MONDO:0007493 torsion dystonia 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200516 Dystonia 5 MONDO:0007495 dystonia 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200516 Dystonia 5 MONDO:0016812 dopa-responsive dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200517 Dystonia 6 MONDO:0011264 torsion dystonia 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200518 Dystonia 7 MONDO:0011200 torsion dystonia 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200519 Dystonia 8 MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200520 Dystonia 9 MONDO:0010983 dystonia 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200521 Dystonia 10 MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200522 Dystonia 11 MONDO:0000903 myoclonus-dystonia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200523 Dystonia 12 MONDO:0007496 dystonia 12 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200524 Rapid-onset dystonia-parkinsonism MONDO:0007496 dystonia 12 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200525 Alternating hemiplegia of childhood MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200527 Dystonia 13 MONDO:0011886 torsion dystonia 13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200528 Dystonia 15 MONDO:0011844 myoclonic dystonia 15 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200529 Dystonia 16 MONDO:0012789 dystonia 16 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200530 Dystonia 17 MONDO:0012895 torsion dystonia 17 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200531 Dystonia 18 MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200532 Dystonia 19 MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200533 Dystonia 20 MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration MONDO:0016304 classic pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B MONDO:0012444 neurodegeneration with brain iron accumulation 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 MONDO:0011638 neuroferritinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 MONDO:0011426 aceruloplasminemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 MONDO:0013674 neurodegeneration with brain iron accumulation 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration MONDO:0012866 hereditary spastic paraplegia 35 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200542 Neuroferritinopathy MONDO:0011638 neuroferritinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200543 Superficial siderosis MONDO:0016594 superficial siderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:0010829 CARASIL syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200547 Perry syndrome MONDO:0008201 Perry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200548 Frontotemporal lobar degeneration MONDO:0017276 frontotemporal dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200549 Behavioral variant frontotemporal dementia MONDO:0017160 behavioral variant of frontotemporal dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200550 Semantic dementia MONDO:0010857 semantic dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200551 Bickerstaff's brainstem encephalitis MONDO:0019208 Bickerstaff brainstem encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200553 Congenital insensitivity to pain with anhidrosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200554 Alexander disease MONDO:0008752 Alexander disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200555 Alexander disease type I MONDO:0018209 Alexander disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200556 Alexander disease type II MONDO:0018210 Alexander disease type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200558 Congenital suprabulbar paresis MONDO:0008503 Worster-Drought syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200559 Moebius syndrome MONDO:0008006 Mobius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome MONDO:0008428 septooptic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200561 Septo-optic dysplasia MONDO:0008428 septooptic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200561 Septo-optic dysplasia MONDO:0019029 segmental odontomaxillary dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200562 Aicardi syndrome MONDO:0010568 Aicardi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200563 Hemimegalencephaly MONDO:0020492 hemimegalencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200564 Focal cortical dysplasia MONDO:0019009 isolated focal cortical dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200565 Focal cortical dysplasia type 1a MONDO:0017096 isolated focal cortical dysplasia type Ia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200566 Focal cortical dysplasia type 1b MONDO:0017097 isolated focal cortical dysplasia type Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200567 Focal cortical dysplasia type 1c MONDO:0017098 isolated focal cortical dysplasia type Ic MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200568 Focal cortical dysplasia type 2a MONDO:0017101 isolated focal cortical dysplasia type IIa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200569 Focal cortical dysplasia type 2b MONDO:0017102 isolated focal cortical dysplasia type IIb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200574 Neuronal migration defects MONDO:0018838 lissencephaly spectrum disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200575 Congenital hypomyelinating leukodystrophy MONDO:0019046 leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200576 Pelizaeus-Merzbacher disease MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200577 Pelizaeus-Merzbacher like disease MONDO:0017226 Pelizaeus-Merzbacher-like disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:0012905 hypomyelinating leukodystrophy 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200579 18q-syndrome MONDO:0011147 chromosome 18q deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200580 Allan-Herndon-Dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200581 Mitochondrial Hsp60 chaperonopathy MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200582 Salla disease MONDO:0011449 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200584 Hypomyelination and congenital cataract MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease MONDO:0012198 PCWH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200587 Dravet syndrome MONDO:0100135 Dravet syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200589 Myoclonic absence epilepsy MONDO:0019487 epilepsy with myoclonic absences MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200590 Epilepsy with myoclonic atonic seizures MONDO:0016025 myoclonic-astatic epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200591 Lennox-Gastaut syndrome MONDO:0016532 Lennox-Gastaut syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200592 West syndrome MONDO:0018097 West syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200593 Ohtahara syndrome MONDO:0100062 developmental and epileptic encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200594 Early myoclonic encephalopathy MONDO:0016022 early myoclonic encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200595 Epilepsy of infancy with migrating focal seizures MONDO:0017385 malignant migrating partial seizures of infancy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200595 Epilepsy of infancy with migrating focal seizures MONDO:0100025 epilepsy of infancy with migrating focal seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200597 Ring chromosome 20 syndrome MONDO:0015436 ring chromosome 20 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200598 Rasmussen's encephalitis MONDO:0016019 Rasmussen subacute encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200599 PCDH19-related syndrome MONDO:0010246 developmental and epileptic encephalopathy, 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep MONDO:0019123 continuous spikes and waves during sleep MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep MONDO:0022858 continuous spike-wave during slow sleep syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200602 Landau-Kleffner syndrome MONDO:0009509 Landau-Kleffner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200603 Rett syndrome MONDO:0010726 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200604 Typical Rett syndrome MONDO:0010726 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200605 Atypical Rett syndrome MONDO:0017746 atypical Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200606 Sturge-Weber syndrome MONDO:0008501 Sturge-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200607 Tuberous sclerosis complex MONDO:0001734 tuberous sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200607 Tuberous sclerosis complex MONDO:0019341 obsolete tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200608 Xeroderma pigmentosum MONDO:0019600 xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200609 Congenital ichthyosis MONDO:0015947 inherited ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200610 Keratinopathic ichthyosis MONDO:0017266 keratinopathic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200611 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 autosomal dominant epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200612 Autosomal recessive epidermolytic ichthyosis MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200613 Superficial epidermolytic ichthyosis MONDO:0007813 superficial epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200614 Harlequin ichthyosis MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200616 Congenital ichthyosiform erythroderma MONDO:0019306 congenital non-bullous ichthyosiform erythroderma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200617 Lamellar ichthyosis MONDO:0017778 lamellar ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200617 Lamellar ichthyosis MONDO:0019306 congenital non-bullous ichthyosiform erythroderma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200618 Ichthyosis syndrome MONDO:0019269 ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200619 Netherton syndrome MONDO:0009735 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200620 Sjögren-Larsson syndrome MONDO:0010031 Sjogren-Larsson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200621 Keratitis-ichthyosis-deafness syndrome MONDO:0018781 KID syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200622 Dorfman-Chanarin syndrome MONDO:0010155 Dorfman-Chanarin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200622 Dorfman-Chanarin syndrome MONDO:0015611 neutral lipid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200623 Neutral lipid storage disease with ichthyosis MONDO:0010155 Dorfman-Chanarin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200624 Multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200625 Recessive X-linked ichtyosis MONDO:0010622 recessive X-linked ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature MONDO:0002470 photosensitive trichothiodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200627 Trichothiodystrophy MONDO:0018053 trichothiodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200628 Ichthyosis follicularis MONDO:0043094 ichthyosis, follicular MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200629 CHILD syndrome MONDO:0010621 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200630 Conradi Hünermann Happle syndrome MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200631 Benign familial pemphigus MONDO:0008218 Hailey-Hailey disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) MONDO:0019082 bullous pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200633 Bullous pemphigoid MONDO:0019082 bullous pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200634 Mucous membrane pemphigoid MONDO:0018746 mucous membrane pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200635 Epidermolysis bullosa acquisita MONDO:0018747 acquired epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200637 Oculocutaneous albinism MONDO:0018910 oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200638 Hermansky-Pudlak syndrome MONDO:0019312 Hermansky-Pudlak syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200639 Chédiak-Higashi syndrome MONDO:0008963 Chediak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200640 Griscelli syndrome MONDO:0018306 Griscelli syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200641 Non-syndromic oculocutaneous albinism MONDO:0018910 oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200642 Pachydermoperiostosis MONDO:0009799 obsolete pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200642 Pachydermoperiostosis MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200643 Pseudoxanthoma elasticum MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200644 Marfan syndrome MONDO:0007947 Marfan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200645 Ehlers-Danlos Syndrome MONDO:0020066 Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200646 Ehlers-Danlos syndrome, classical type MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200648 Ehlers-Danlos syndrome, vascular type MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200653 Menkes disease MONDO:0010651 Menkes disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200654 Occipital horn syndrome MONDO:0010572 occipital horn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200655 Wilson disease MONDO:0010200 Wilson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200656 Hypophosphatasia MONDO:0018570 hypophosphatasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200657 VATER syndrome MONDO:0008642 VACTERL/vater association MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200658 Nasu-Hakola disease MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200659 Weaver syndrome MONDO:0010193 Weaver syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200660 Coffin-Lowry syndrome MONDO:0010561 Coffin-Lowry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200661 Joubert syndrome and related disorders MONDO:0015369 Joubert syndrome and related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200662 Arima syndrome MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200663 Mowat-Wilson syndrome MONDO:0009341 Mowat-Wilson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200664 Williams syndrome MONDO:0008678 Williams syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200665 ATR-X syndrome MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200666 Crouzon's syndrome MONDO:0007405 Crouzon syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200667 Apert syndrome MONDO:0007041 Apert syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200668 Pfeiffer syndrome MONDO:0005810 infectious mononucleosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200668 Pfeiffer syndrome MONDO:0007043 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200669 Antley-Bixler syndrome MONDO:0008803 Antley-Bixler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200670 Coffin-Siris syndrome MONDO:0015452 Coffin-Siris syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200671 Rothmund-Thomson syndrome MONDO:0010002 Rothmund-Thomson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200672 Kabuki syndrome MONDO:0016512 Kabuki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200675 Branchio-oto-renal syndrome MONDO:0007029 branchio-oto-renal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200675 Branchio-oto-renal syndrome MONDO:0018878 branchiootic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200676 Werner syndrome MONDO:0010196 Werner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200677 Cockayne syndrome MONDO:0016006 Cockayne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200678 Prader-Willi syndrome MONDO:0008300 Prader-Willi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200679 Sotos syndrome MONDO:0019349 Sotos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200680 Noonan syndrome MONDO:0018997 Noonan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200681 Young-Simpson syndrome MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200682 1p36 deletion syndrome MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200683 4p deletion syndrome MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200684 5p deletion syndrome MONDO:0007404 Cri-du-chat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200685 Paternal uniparental disomy of chromosome 14 MONDO:0011975 paternal uniparental disomy of chromosome 14 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200686 Angelman syndrome MONDO:0007113 Angelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200687 Smith-Magenis syndrome MONDO:0008434 Smith-Magenis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200688 22q11.2 deletion syndrome MONDO:0008564 DiGeorge syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200688 22q11.2 deletion syndrome MONDO:0008644 velocardiofacial syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200688 22q11.2 deletion syndrome MONDO:0018923 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200689 Emanuel syndrome MONDO:0012176 Emanuel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200690 Fragile X syndrome related diseases MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200691 Fragile X tremor/ataxia syndrome MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200692 Fragile X syndrome MONDO:0010383 fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200693 Truncus arteriosus communis MONDO:0018072 persistent truncus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200698 Corrected transposition of great arteries MONDO:0019443 dextro-looped transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200699 Complete transposition of the great arteries MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200701 Complete transposition of the great arteries (Group2) MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200701 Complete transposition of the great arteries (Group2) MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200703 Complete transposition of the great arteries (Group4) MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200703 Complete transposition of the great arteries (Group4) MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200704 Single ventricle MONDO:0015451 univentricular heart MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200705 Hypoplastic left heart syndrome MONDO:0004933 hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200706 Tricuspid atresia MONDO:0011514 tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200707 Pulmonary atresia with intact ventricular septum MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200708 Pulmonary atresia with ventricular septal defect MONDO:0008343 pulmonary atresia with ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200709 Tetralogy of Fallot MONDO:0008542 tetralogy of fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200710 Double outlet right ventricle MONDO:0018089 double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200711 Ebstein's anomaly MONDO:0009144 Ebstein anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200712 Alport's syndrome MONDO:0018965 Alport syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200713 Galloway-Mowat syndrome MONDO:0009627 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200714 Rapidly progressive glomerulonephritis MONDO:0001645 crescentic glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200714 Rapidly progressive glomerulonephritis MONDO:0017236 rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis MONDO:0003136 anti-basement membrane glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis MONDO:0009303 anti-glomerular basement membrane disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200718 Goodpasture syndrome MONDO:0009303 anti-glomerular basement membrane disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200719 Primary nephrotic syndrome MONDO:0018170 idiopathic nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200720 Minimal change nephrotic syndrome MONDO:0006835 lipoid nephrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200721 Membranous nephropathy MONDO:0005376 membranous glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200722 Focal segmental glomerulosclerosis MONDO:0005363 inherited focal segmental glomerulosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200723 Crescentic glomerulonephritis MONDO:0001645 crescentic glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200723 Crescentic glomerulonephritis MONDO:0017236 rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200725 Primary membranoproliferative glomerulonephritis MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200726 Primary membranoproliferative glomerulonephritis type I MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I MONDO:0002461 membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200739 Primary membranoproliferative glomerulonephritis type II MONDO:0019736 dense deposit disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200741 Henoch-Schonlein purpura nephritis MONDO:0006785 obsolete Henoch-Schoenlein purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200742 Congenital nephrogenic diabetes insipidus MONDO:0016383 nephrogenic diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200743 Interstitial cystitis (Hunner type) MONDO:0018301 interstitial cystitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200744 Osler disease MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200745 Bronchiolitis obliterans MONDO:0015265 bronchiolitis obliterans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200746 Pulmonary alveolar proteinosis MONDO:0001437 pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200746 Pulmonary alveolar proteinosis MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200747 Autoimmune pulmonary alveolar proteinosis MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200748 Idiopathic pulmonary alveolar proteinosis MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis MONDO:0018483 secondary pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200750 Congenital alveolar proteinosis MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200751 Alveolar hypoventilation syndrome MONDO:0008346 pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200752 Obesity hypoventilation syndrome MONDO:0009763 obesity-hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200753 Congenital central hypoventilation syndrome MONDO:0008852 obsolete congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200755 Alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200756 Carney complex MONDO:0015285 Carney complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200757 Wolfram syndrome MONDO:0018105 Wolfram syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200758 Peroxisomal disorder MONDO:0019053 peroxisomal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200759 Peroxisome biogenesis disorders MONDO:0019234 peroxisome biogenesis disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200760 Zellweger syndrome MONDO:0019609 Zellweger spectrum disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200761 Neonatal adrenoleukodystrophy MONDO:0018598 obsolete neonatal adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200762 Infantile Refsum disease MONDO:0019174 obsolete infantile Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency MONDO:0019233 disorder of peroxisomal beta oxidation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200766 D-bifunctional protein deficiency MONDO:0009855 d-bifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200767 Sterol carrier protein 2 deficiency MONDO:0013391 sterol carrier protein 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency MONDO:0013681 alpha-methylacyl-CoA racemase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200769 Refsum disease MONDO:0009958 adult Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency MONDO:0017986 disorder of plasmalogens biosynthesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200773 Primary hyperoxaluria type 1 MONDO:0009823 primary hyperoxaluria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200774 Acatalasemia MONDO:0013571 acatalasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200775 Hypoparathyroidism MONDO:0001220 hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200775 Hypoparathyroidism MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200776 Pseudohypoparathyroidism MONDO:0019992 pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia MONDO:0024300 hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200779 Vitamin D-resistant rickets MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200779 Vitamin D-resistant rickets MONDO:0010931 vitamin D-dependent rickets, type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200780 Vitamin D-resistant osteomalacia MONDO:0024300 hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia MONDO:0024299 vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200782 Vitamin D-dependent rickets, type 1 MONDO:0009924 vitamin D-dependent rickets, type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200783 Vitamin D-dependent rickets, type 2 MONDO:0019642 vitamin D-dependent rickets, type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200784 Phenylketonuria MONDO:0009861 phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200785 Phenylalanine hydroxylase deficiency MONDO:0009861 phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200786 Tetrahydrobiopterin deficiency MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200788 Tyrosinemia type 1 MONDO:0010161 tyrosinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200789 Tyrosinemia type 2 MONDO:0010160 tyrosinemia type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200790 Tyrosinemia type 3 MONDO:0010162 tyrosinemia type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200791 Maple syrup urine disease MONDO:0009563 maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200792 Propionic acidemia MONDO:0011628 propionic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200793 Methylmalonic acidemia MONDO:0002012 methylmalonic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200795 Methylmalonic acidemia cblA type MONDO:0009613 methylmalonic aciduria, cblA type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200796 Methylmalonic acidemia cblB type MONDO:0009614 methylmalonic aciduria, cblB type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200797 Methylmalonic acidemia CblD type MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200798 Isovaleric acidemia MONDO:0009475 isovaleric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200799 Glucose transporter 1 deficiency MONDO:0000188 GLUT1 deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200799 Glucose transporter 1 deficiency MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200800 Glutaric acidemia type 1 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200801 Glutaric acidemia type 2 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200802 Urea cycle disorder MONDO:0004739 urea cycle disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200803 Carbamoyl phosphate synthetase I deficiency MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200804 Ornithine transcarbamylase deficiency MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200805 Classic citrullinemia MONDO:0008988 citrullinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200806 Argininosuccinic aciduria MONDO:0008815 argininosuccinic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200807 Argininemia MONDO:0008814 hyperargininemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200808 NAGS deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200809 Lysinuric protein intolerance MONDO:0009109 lysinuric protein intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200810 Hereditary folate malabsorption MONDO:0009238 hereditary folate malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200811 Porphyria MONDO:0037939 porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200812 Acute intermittent porphyria MONDO:0008294 acute intermittent porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200813 Hereditary coproporphyria MONDO:0007369 hereditary coproporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200814 Variegate porphyria MONDO:0008297 variegate porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200815 Erythropoietic protoporphyria MONDO:0001676 erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200815 Erythropoietic protoporphyria MONDO:0008319 protoporphyria, erythropoietic, 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200815 Erythropoietic protoporphyria MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200816 Porphyria cutanea tarda MONDO:0015104 porphyria cutanea tarda MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200817 Congenital erythropoietic porphyria MONDO:0009902 cutaneous porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200818 X-linked dominant protoporphyria MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200819 Hepatoerythropoietic porphyria MONDO:0019799 hepatoerythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200820 Multiple carboxylase deficiency MONDO:0015454 multiple carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200821 Holocarboxylase synthetase deficiency MONDO:0009666 holocarboxylase synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200822 Biotinidase deficiency MONDO:0009665 biotinidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200823 Muscle glycogen storage disease MONDO:0009295 glycogen storage disease VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200823 Muscle glycogen storage disease MONDO:0016118 obsolete muscular glycogenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200824 Glycogen storage diseases type 0 MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200824 Glycogen storage diseases type 0 MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200825 Glycogen storage diseases type II MONDO:0009290 glycogen storage disease II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200826 Glycogen storage diseases type III MONDO:0009291 glycogen storage disease III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200827 Glycogen storage diseases type IV MONDO:0008222 Andersen-Tawil syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200827 Glycogen storage diseases type IV MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200828 Glycogen storage diseases type V MONDO:0009293 glycogen storage disease V MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200829 Glycogen storage diseases type VII MONDO:0009295 glycogen storage disease VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200830 Glycogen storage diseases type IXd MONDO:0010362 glycogen storage disease IXd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200831 Phosphoglycerate kinase deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200832 Glycogen storage diseases type X MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200833 Glycogen storage diseases type XI MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200834 Glycogen storage diseases type XII MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200835 Glycogen storage diseases type XIII MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200836 Glycogen storage diseases type XIV MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200837 Glycogen storage diseases type XV MONDO:0013291 glycogen storage disease XV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200838 Hepatic glycogen storage disease MONDO:0002412 disorder of glycogen metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200838 Hepatic glycogen storage disease MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200840 Hepatic glycogen storage disease type Ia MONDO:0002413 glycogen storage disease I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200841 Hepatic glycogen storage disease type Ib MONDO:0009288 glycogen storage disease Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200841 Hepatic glycogen storage disease type Ib MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200844 Hepatic GSD type IIIc MONDO:0009291 glycogen storage disease III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200846 Hepatic glycogen storage disease type VI MONDO:0009294 glycogen storage disease VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200847 Hepatic glycogen storage disease type IXa MONDO:0010598 glycogen storage disease IXa1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200848 Hepatic glycogen storage disease type IXb MONDO:0009868 glycogen storage disease IXb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200849 Hepatic glycogen storage disease type IXc MONDO:0013091 glycogen storage disease IXc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200850 Hepatic glycogen storage disease type IV MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency MONDO:0009258 classic galactosemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency MONDO:0009515 Norum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency MONDO:0018999 LCAT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200853 Sitosterolemia MONDO:0008863 sitosterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200854 Tangier disease MONDO:0008783 Tangier disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200856 Cerebrotendinous xanthomatosis MONDO:0008948 cerebrotendinous xanthomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200857 Abetalipoproteinemia MONDO:0008692 abetalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200858 Lipodystrophy MONDO:0006573 lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200859 Generalized congenital lipodystrophy MONDO:0006536 congenital generalized lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200859 Generalized congenital lipodystrophy MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200860 Acquired generalized lipodystrophy MONDO:0019193 acquired generalized lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200861 Familial partial lipodystrophy MONDO:0020088 familial partial lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200862 Acquired partial lipodystrophy MONDO:0012104 acquired partial lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200863 Familial Mediterranean fever MONDO:0018088 familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200864 Typical familial Mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200866 Hyper IgD syndrome MONDO:0009849 hyperimmunoglobulinemia D with periodic fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200866 Hyper IgD syndrome MONDO:0012481 mevalonic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200867 Nakajo-Nishimura syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200869 Chronic recurrent multifocal osteomyelitis MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200870 Ankylosing spondylitis MONDO:0005306 ankylosing spondylitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200871 Fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200871 Fibrodysplasia ossificans progressiva MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200873 Osteogenesis imperfecta MONDO:0019019 osteogenesis imperfecta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200874 Thanatophoric dysplasia MONDO:0017042 thanatophoric dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200875 Thanatophoric dysplasia type 1 MONDO:0008546 thanatophoric dysplasia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200876 Thanatophoric dysplasia type 2 MONDO:0008547 thanatophoric dysplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200877 Achondroplasia MONDO:0007037 Achondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease MONDO:0003157 disappearing bone disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease MONDO:0007414 Gorham-Stout disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200879 obsolete Lymphangiomatosis MONDO:0015408 diffuse lymphatic malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200880 obsolete Gorham disease MONDO:0003157 disappearing bone disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200880 obsolete Gorham disease MONDO:0007414 Gorham-Stout disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) MONDO:0016233 obsolete rare lymphatic system malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) MONDO:0019328 macrocystic lymphatic malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200884 Klippel-Trenaunay-Weber syndrome MONDO:0007864 angioosteohypertrophic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200885 Congenital dyserythropoietic anemia MONDO:0019403 congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200886 Congenital dyserythropoietic anemia type I MONDO:0020337 congenital dyserythropoietic anemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200887 Congenital dyserythropoietic anemia type II MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200888 Congenital dyserythropoietic anemia type III MONDO:0007109 congenital dyserythropoietic anemia type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200889 Acquired pure red cell aplasia MONDO:0020338 adult pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200890 Diamond-Blackfan anemia MONDO:0015253 Diamond-Blackfan anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200891 Fanconi anemia MONDO:0019391 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200892 Hereditary sideroblastic anemia MONDO:0020099 inherited sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200893 Epstein syndrome MONDO:0007954 obsolete May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200896 Autoimmune acquired coagulation factor deficiency MONDO:0020599 acquired coagulation factor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 MONDO:0021133 acquired factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200898 Acquired hemophilia A MONDO:0019139 acquired hemophilia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200899 Acquired von Willebrand disease MONDO:0020460 acquired von willebrand syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200901 Cronkhite-Canada syndrome MONDO:0008283 Cronkhite-Canada syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200903 Hirschsprung disease MONDO:0018309 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200909 Cloacal exstrophy MONDO:0009774 cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200910 Persistent cloaca MONDO:0009774 cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200911 Congenital diaphragmatic hernia MONDO:0005711 congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200913 Biliary atresia MONDO:0008867 biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200913 Biliary atresia MONDO:0028737 obsolete biliary atresia disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200918 Alagille syndrome MONDO:0007318 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200919 Typical Alagille syndrome MONDO:0007318 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200921 Hereditary pancreatitis MONDO:0008185 hereditary chronic pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200922 Cystic fibrosis MONDO:0009061 cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200923 IgG4-related disease MONDO:0017287 IgG4-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200924 IgG4-related disease MONDO:0017287 IgG4-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200925 Autoimmune pancreatitis MONDO:0015175 autoimmune pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200928 IgG4-related sclerosing cholangitis MONDO:0018645 IgG4-related sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200930 IgG4-related kidney disease MONDO:0018671 IgG4-related kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200931 Macular dystrophy MONDO:0020242 hereditary macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200932 Vitelliform macular dystrophy MONDO:0000390 vitelliform macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200933 Stargardt disease MONDO:0019353 Stargardt disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200934 Occult macular dystrophy MONDO:0013316 occult macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200936 Cone dystrophy MONDO:0000455 cone dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200937 Cone-rod dystrophy MONDO:0015993 cone-rod dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200938 X-linked juvenile retinoschisis MONDO:0010725 X-linked retinoschisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200939 Central areolar choroidal dystrophy MONDO:0004890 partial central choroid dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200939 Central areolar choroidal dystrophy MONDO:0008982 central areolar choroidal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200940 Leber hereditary optic neuropathy MONDO:0010788 Leber hereditary optic neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200941 Usher syndrome MONDO:0019501 Usher syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200942 Usher syndrome type I MONDO:0010168 Usher syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200943 Usher syndrome Type II MONDO:0016484 Usher syndrome type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200944 Usher syndrome Type III MONDO:0016485 Usher syndrome type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200948 Canavan disease MONDO:0010079 Canavan disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200951 Vanishing white matter disease MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200953 Progressive myoclonus epilepsy MONDO:0020074 progressive myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200954 Unverricht-Lundborg disease MONDO:0009698 Unverricht-Lundborg syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200955 Lafora disease MONDO:0009697 Lafora disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200956 Benign adult familial myoclonus epilepsy MONDO:0019448 benign adult familial myoclonic epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200957 Congenital anomalies syndrome MONDO:0000839 obsolete congenital abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200958 Partial trisomy 1q MONDO:0016952 partial duplication of the long arm of chromosome 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200959 9q34 deletion syndrome MONDO:0012455 Kleefstra syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200960 Cornelia de lange syndrome MONDO:0016033 Cornelia de Lange syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200961 Smith-lemli-opitz syndrome MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200962 Congenital tricuspid stenosis MONDO:0011514 tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200962 Congenital tricuspid stenosis MONDO:0019813 congenital tricuspid stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200963 Congenital mitral stenosis MONDO:0005852 mitral valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200963 Congenital mitral stenosis MONDO:0020398 congenital mitral stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200964 Congenital pulmonary vein stenosis MONDO:0017864 congenital pulmonary veins atresia or stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200967 Nail-patella syndrome MONDO:0008061 nail-patella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200969 Carnitine cycle disorders MONDO:0017716 disorder of carnitine cycle and carnitine transport MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200970 Carnitine palmitoyltransferase I deficiency MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200971 Carnitine palmitoyltransferase II deficiency MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200972 Carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200973 Systemic primary carnitine deficiency MONDO:0008919 systemic primary carnitine deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200974 Trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200978 Citrin deficiency MONDO:0016602 citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200980 Adult-onset type II citrullinemia MONDO:0011326 citrullinemia, type II, adult-onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200980 Adult-onset type II citrullinemia MONDO:0016603 citrullinemia type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200982 Sepiapterin reductase deficiency MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200984 Nonketotic hyperglycinemia MONDO:0011612 glycine encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200985 Neonatal nonketotic hyperglycinemia MONDO:0017353 neonatal glycine encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200986 Infantile nonketotic hyperglycinemia MONDO:0017354 infantile glycine encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200987 Beta-ketothiolase deficiency MONDO:0008760 beta-ketothiolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200989 Methylglutaconic aciduria MONDO:0017359 3-methylglutaconic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200990 3-methylglutaconic aciduria type I MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200991 3-methylglutaconicaciduria type II MONDO:0010543 Barth syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200992 3-methylglutaconic aciduria type III MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200994 NLRC4 mutation MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200995 Adenosine deaminase 2 deficiency MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200996 Aicardi-Goutières Syndrome MONDO:0018866 Aicardi-Goutieres syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200997 A20 haploinsufficiency MONDO:0100222 A20 haploinsufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1200998 Osteopetrosis MONDO:0017198 osteopetrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201000 Anterior segment dysgenesis MONDO:0019503 anterior segment dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201001 Aniridia MONDO:0019172 aniridia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201003 Congenital tracheal stenosis MONDO:0011340 congenital tracheal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201004 Congenital subglottic stenosis MONDO:0015395 congenital subglottic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201006 Gelatinous drop-like corneal dystrophy MONDO:0008777 gelatinous drop-like corneal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201007 Hutchinson-Gilford syndrome MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201009 Systemic granulomatosis with polyangiitis MONDO:0012105 granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201010 Diffuse cutaneous systemic sclerosis MONDO:0016356 diffuse cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201011 Limited cutaneous systemic sclerosis MONDO:0016358 limited cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201011 Limited cutaneous systemic sclerosis MONDO:0019563 CREST syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201018 Hepatic glycogen storage disease type I MONDO:0002413 glycogen storage disease I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201019 Hepatic glycogen storage disease type III MONDO:0009291 glycogen storage disease III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201020 Hepatic glycogen storage disease type IX MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201021 Cystic fibrosis MONDO:0009061 cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201029 Mesangial proliferative glomerulonephritis MONDO:0003139 mesangial proliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201032 Cerebral creatine deficiency syndromes MONDO:0000456 cerebral creatine deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201033 Arginine:glycine amidinotransferase deficiency MONDO:0012996 AGAT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201034 Guanidinoacetate methyltransferase deficiency MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201035 Creatine transporter deficiency MONDO:0010305 creatine transporter deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201036 Nephronophthisis MONDO:0009728 nephronophthisis 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201036 Nephronophthisis MONDO:0019005 nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 MONDO:0014252 familial hypobetalipoproteinemia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201038 Homocystinuria MONDO:0004737 homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201039 Homocystinuria type 1 MONDO:0009352 classic homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201040 Homocystinuria type 2 MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201041 Homocystinuria type 3 MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201042 Progressive familial intrahepatic cholestasis MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201048 Acquired factor X inhibitor MONDO:0021134 acquired factor X deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201049 Senior-Loken syndrome MONDO:0017842 Senior-Loken syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201050 COACH syndrome MONDO:0008996 obsolete COACH syndrome 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201051 Oral-facial-digital syndrome MONDO:0015375 orofaciodigital syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201056 End-plate acetylcholine esterase deficiency MONDO:0011281 congenital myasthenic syndrome 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea MONDO:0009689 congenital myasthenic syndrome 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201058 RAPADILINO syndrome MONDO:0009955 rapadilino syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201059 Baller-Gerold syndrome MONDO:0009039 Baller-Gerold syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201060 Familial amyloid polyneuropathy type 1 MONDO:0007100 familial amyloid neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201062 Familial amyloid polyneuropathy type 3 MONDO:0019731 AApoAI amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201063 Familial amyloid polyneuropathy type 4 MONDO:0007097 Finnish type amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201064 Kearns-Sayre syndrome MONDO:0010787 Kearns-Sayre syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201065 Herlitz junctional epidermolysis bullosa MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201068 Agyria MONDO:0015146 classic lissencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201068 Agyria MONDO:0022402 agyria-pachygyria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201069 Pachygyria MONDO:0015146 classic lissencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201069 Pachygyria MONDO:0022402 agyria-pachygyria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201070 Subcortical band heterotopia MONDO:0020491 subcortical band heterotopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201071 Polymicrogyria MONDO:0000087 polymicrogyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201072 Cobblestone brain malformation MONDO:0018869 cobblestone lissencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201073 Schizencephaly MONDO:0010011 schizencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201074 Porencephaly MONDO:0017410 porencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201075 Pseudohypoparathyroidism type 1A MONDO:0007078 Pseudohypoparathyroidism type 1A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201076 Pseudohypoparathyroidism type 1B MONDO:0011301 pseudohypoparathyroidism type 1B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201077 Pseudohypoparathyroidism type 1C MONDO:0012911 pseudohypoparathyroidism type 1C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201078 Pseudohypoparathyroidism type 2 MONDO:0008749 pseudohypoparathyroidism type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201079 Periventricular nodular heterotopia MONDO:0020341 periventricular nodular heterotopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201080 Protein C deficiency MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201081 Protein S deficiency MONDO:0002304 protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:1201083 Miller Dieker syndrome MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100002 Leukemia MONDO:0004355 childhood leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100002 Leukemia MONDO:0005059 leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100003 Myelodysplastic syndrome MONDO:0018881 myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100003 Myelodysplastic syndrome MONDO:0044873 childhood myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100004 Lymphoma MONDO:0003659 pediatric lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100004 Lymphoma MONDO:0003660 adult lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100004 Lymphoma MONDO:0005062 lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100005 Histiocytosis MONDO:0002637 histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100007 Central nervous system tumors MONDO:0002714 central nervous system cancer MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100008 Chronic kidney disease MONDO:0005300 chronic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100009 Nephrotic syndrome MONDO:0005377 nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100012 Chronic pyelonephritis MONDO:0001110 chronic pyelonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100014 Familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100015 Nephronophthisis MONDO:0019005 nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100016 Renovascular hypertension MONDO:0001105 renal hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100016 Renovascular hypertension MONDO:0006947 renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100019 Renal tubular acidosis MONDO:0001909 renal tubular acidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100020 Gitelman syndrome MONDO:0009904 Gitelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100021 Bartter syndrome MONDO:0015231 Bartter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100023 Chronic renal failure MONDO:0005300 chronic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100023 Chronic renal failure MONDO:0024327 chronic renal failure syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100027 Fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100028 Lowe syndrome MONDO:0010645 oculocerebrorenal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100031 Bronchial asthma MONDO:0010940 inherited susceptibility to asthma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100032 Congenital central hypoventilation syndrome MONDO:0008852 obsolete congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100034 Primary ciliary dyskinesia MONDO:0016575 primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100035 Cystic fibrosis MONDO:0009061 cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100036 Bronchiectasis MONDO:0004822 bronchiectasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100037 Idiopathic pulmonary hemosiderosis MONDO:0008346 pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100039 Bronchiolitis obliterans MONDO:0015265 bronchiolitis obliterans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100040 Congenital diaphragmatic hernia MONDO:0005711 congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100043 Sick sinus syndrome MONDO:0001823 sick sinus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100044 Mobitz type II second degree atrioventricular block MONDO:0001261 Mobitz type II atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100046 Bundle branch block MONDO:0020803 obsolete bundle branch block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100049 Ventricular tachycardia MONDO:0005477 ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100050 Atrial flutter MONDO:0005310 atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100051 Atrial fibrillation MONDO:0004981 atrial fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100052 Ventricular fibrillation MONDO:0000190 ventricular fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100053 Long QT syndrome MONDO:0002442 long QT syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100054 Hypertrophic cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100057 Dilated cardiomyopathy MONDO:0005021 dilated cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100058 Restrictive cardiomyopathy MONDO:0005201 restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100060 Endocardial fibroelastosis MONDO:0009169 endocardial fibroelastosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100061 Cardiac tumor MONDO:0021209 heart neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100064 Constrictive pericarditis MONDO:0006711 constrictive pericarditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100070 Ischemic heart disease MONDO:0024644 myocardial ischemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100071 Hypoplastic left heart syndrome MONDO:0004933 hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100073 Tricuspid atresia MONDO:0011514 tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100075 Tetralogy of Fallot MONDO:0008542 tetralogy of fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100076 Double outlet right ventricle MONDO:0018089 double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100077 Double-outlet left ventricle MONDO:0018090 double outlet left ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100079 Congenitally corrected transposition of the great arteries MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100080 Ebstein's anomaly MONDO:0009144 Ebstein anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100082 Aorto-pulmonary window MONDO:0021902 aortopulmonary window MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100083 Cor triatriatum MONDO:0015450 triatrial heart MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100084 Patent ductus arteriosus MONDO:0011827 patent ductus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100085 Atrial septal defect MONDO:0006664 atrial septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100086 Complete atrioventricular septal defect MONDO:0015273 complete atrioventricular canal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100087 Ventricular septal defect MONDO:0002070 ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100090 Left ventricular-right atrial communication MONDO:0020428 congenital Gerbode defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100092 Subvalvular pulmonary stenosis MONDO:0006935 pulmonary subvalvular stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100093 Subvalvular aortic stenosis MONDO:0006987 subvalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100095 Absent pulmonary valve MONDO:0020064 pulmonary valve agenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100098 Aortic stenosis MONDO:0004978 obsolete aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100101 Aortic aneurysm MONDO:0005160 aortic aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100103 Pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100105 Valvular heart disease MONDO:0002869 heart valve disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100109 Endocrine disease MONDO:0005151 endocrine system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100110 Hypopituitarism MONDO:0005152 hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100111 Pituitary gigantism MONDO:0020479 pituitary gigantism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100112 Acromegaly MONDO:0019933 acromegaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100114 Growth hormone insensitivity MONDO:0015892 growth hormone insensitivity syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100115 Hyperprolactinemia MONDO:0005804 hyperprolactinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:0006802 inappropriate ADH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100117 Diabetes insipidus MONDO:0004782 diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100119 Hyperthyroidism MONDO:0004425 hyperthyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100120 Hypothyroidism MONDO:0005420 hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100121 Resistance to thyroid hormone MONDO:0001328 thyroid hormone resistance syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100121 Resistance to thyroid hormone MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100123 Hyperparathyroidism MONDO:0001741 hyperparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100124 Hypoparathyroidism MONDO:0001220 hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100124 Hypoparathyroidism MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100125 Autoimmune polyendocrinopathy MONDO:0017278 autoimmune polyendocrinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100126 Pseudohypoparathyroidism MONDO:0019992 pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100130 Apparent mineralocorticoid excess syndrome MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100130 Apparent mineralocorticoid excess syndrome MONDO:0009025 apparent mineralocorticoid excess MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100131 Liddle syndrome MONDO:0008323 Liddle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100132 Hypoaldosteronism MONDO:0015900 hypoaldosteronism disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100133 Pseudohypoaldosteronism MONDO:0018638 pseudohypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100134 Congenital adrenal hyperplasia MONDO:0018479 congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100135 Precocious puberty MONDO:0000088 precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100138 Hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100139 Hypergonadotropic hypogonadism MONDO:0005387 primary ovarian failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100140 Disorders of sex development MONDO:0002145 disorder of sexual differentiation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100142 Glucagonoma MONDO:0019959 glucagonoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100143 Hyperinsulinemic hypoglycemia MONDO:0005803 hyperinsulinemic hypoglycemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100143 Hyperinsulinemic hypoglycemia MONDO:0017182 familial hyperinsulinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100144 Vitamin D-dependent rickets MONDO:0024299 vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100147 Lipodystrophy MONDO:0006573 lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100148 Multiple endocrine neoplasia MONDO:0017169 multiple endocrine neoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100149 Polycystic ovary syndrome MONDO:0008487 polycystic ovary syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100151 Collagen disease MONDO:0005554 rheumatic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100152 Collagen disease MONDO:0005554 rheumatic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100154 Relapsing Polychondritis MONDO:0019125 relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100156 Autoinflammatory disease MONDO:0019751 autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100157 Diabetes MONDO:0005015 diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100158 Diabetes MONDO:0005015 diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100159 Inborn errors of metabolism MONDO:0019052 inborn errors of metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100160 Disorder of amino acid metabolism MONDO:0037871 amino acid metabolism disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100161 Disorder of organic acid metabolism MONDO:0045022 disorder of organic acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100162 Disorder of fatty-acid metabolism MONDO:0037858 inherited fatty acid metabolism disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100163 Mitochondrial diseases MONDO:0004069 inborn mitochondrial metabolism disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100163 Mitochondrial diseases MONDO:0044970 mitochondrial disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100164 Disorder of carbohydrate metabolism MONDO:0019214 inborn carbohydrate metabolic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100164 Disorder of carbohydrate metabolism MONDO:0037792 carbohydrate metabolism disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100165 Lysosomal storage disease MONDO:0002561 lysosomal storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100166 Peroxisomal disorder MONDO:0019053 peroxisomal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100172 Connective tissue disorder MONDO:0003900 connective tissue disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100174 Alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100175 Blood disease MONDO:0005570 hematologic disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100176 Megaloblastic anemia MONDO:0001700 megaloblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100177 Pure red cell aplasia MONDO:0001705 pure red-cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100178 Congenital dyserythropoietic anemia MONDO:0019403 congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100179 Sideroblastic anemia MONDO:0015194 sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100180 Congenital atransferrinemia MONDO:0008846 atransferrinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100181 Autoimmune hemolytic anemia MONDO:0020108 autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100182 Paroxysmal nocturnal haemoglobinuria MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100183 Hereditary hemolytic anemia MONDO:0003689 familial hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100186 Polycythemia vera MONDO:0009891 acquired polycythemia vera MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100187 Familial polycythemia MONDO:0001115 familial polycythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100188 Thrombocytopenic purpura MONDO:0043768 thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100189 Thrombotic thrombocytopenic purpura MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100192 Cyclic thrombocytopenia MONDO:0008556 thrombocytopenia, cyclic MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100193 May-Hegglin anomaly MONDO:0007954 obsolete May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100194 Essential thrombocythemia MONDO:0005029 essential thrombocythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100197 Protein C deficiency MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100198 Protein S deficiency MONDO:0002304 protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100200 Myelofibrosis MONDO:0044903 myelofibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100201 Aplastic anemia MONDO:0015909 aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100202 Immune system disease MONDO:0005046 immune system disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100203 Combined immunodeficiency MONDO:0015131 combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100203 Combined immunodeficiency MONDO:0018035 obsolete syndrome with combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100204 Immunodeficiency MONDO:0003778 inborn error of immunity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100204 Immunodeficiency MONDO:0021094 immunodeficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100212 Acquired immune deficiency syndrome MONDO:0012268 AIDS MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100213 Chronic graft-versus-host disease MONDO:0020547 chronic graft versus host disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100214 Neuromuscular disease MONDO:0019056 neuromuscular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100215 Myelomeningocele MONDO:0017069 spina bifida cystica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100215 Myelomeningocele MONDO:0019773 myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100216 Sacrococcygeal teratoma MONDO:0042727 sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100217 Brain malformation MONDO:0016054 cerebral malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100218 Joubert syndrome related disorders MONDO:0015369 Joubert syndrome and related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100219 Rett syndrome MONDO:0010726 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100220 Neurocutaneous syndrome MONDO:0042983 neurocutaneous syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100221 Progeroid syndromes MONDO:0015333 progeroid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100223 ATR-X syndrome MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100224 Fragile X syndrome MONDO:0010383 fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100226 Cerebral creatine deficiency syndromes MONDO:0000456 cerebral creatine deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100227 Craniosynostosis MONDO:0015469 craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100228 Moyamoya disease MONDO:0016820 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100229 Cerebral arteriovenous malformation MONDO:0007154 arteriovenous malformations of the brain MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100231 Spinal muscular atrophy MONDO:0001516 spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100231 Spinal muscular atrophy MONDO:0019079 proximal spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100233 Muscular dystrophy MONDO:0020121 muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100234 Congenital myopathy MONDO:0019952 congenital myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100235 Schwartz-Jampel syndrome MONDO:0009717 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100237 Progressive myoclonus epilepsy MONDO:0020074 progressive myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100238 Spinocerebellar degeneration MONDO:0000437 cerebellar ataxia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100239 Alternating hemiplegia of childhood MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100240 Dystonia musculorum deformans MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100241 Neurodegeneration with brain iron accumulation MONDO:0018307 neurodegeneration with brain iron accumulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100242 Infantile bilateral striatal necrosis MONDO:0015518 infantile bilateral striatal necrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100244 Aicardi-Goutières Syndrome MONDO:0018866 Aicardi-Goutieres syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100245 Subacute sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100246 Rasmussen's encephalitis MONDO:0016019 Rasmussen subacute encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100248 Autoimmune encephalitis MONDO:0020640 autoimmune encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100250 Multiple sclerosis MONDO:0005301 multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:0007691 Guillain-Barre syndrome, familial MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100252 Myasthenia gravis MONDO:0009688 myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100255 Microvillus inclusion disease MONDO:0009635 microvillus inclusion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100256 Intestinal lymphangiectasia MONDO:0018178 intestinal lymphangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100257 Polyposis MONDO:0000147 polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100258 Cyclic vomiting syndrome MONDO:0010778 cyclic vomiting syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100259 Inflammatory bowel disease MONDO:0005265 inflammatory bowel disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100264 Autoimmune hepatitis MONDO:0016264 autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100265 Primary sclerosing cholangitis MONDO:0013433 primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100265 Primary sclerosing cholangitis MONDO:0018646 sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100267 Congenital hepatic fibrosis MONDO:0018840 isolated congenital hepatic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100268 Liver cirrhosis MONDO:0005155 cirrhosis of liver MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100272 Crigler-Najjar syndrome MONDO:0009044 Crigler-Najjar syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100274 Short bowel syndrome MONDO:0015183 short bowel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100279 Chromosome abnormality MONDO:0019040 chromosomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100280 Chromosome abnormality MONDO:0019040 chromosomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100281 Skin disease MONDO:0005093 skin disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100283 Congenital ichthyosis MONDO:0015947 inherited ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100284 Epidermolysis bullosa MONDO:0006541 epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100285 Pustular psoriasis MONDO:0022205 pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100286 Xeroderma pigmentosum MONDO:0019600 xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100287 von Recklinghausen's disease MONDO:0018975 neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100288 Pachydermoperiostosis MONDO:0009799 obsolete pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100288 Pachydermoperiostosis MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100290 Stevens-Johnson syndrome MONDO:0018229 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100291 Bone disease MONDO:0005381 bone disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100293 Bone disease MONDO:0005381 bone disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100294 Vascular disease MONDO:0005385 vascular disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100295 Vascular malformation MONDO:0024291 vascular malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100296 Hereditary hemorrhagic telangiectasia MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2100297 Kasabach-Merritt syndrome MONDO:0007708 Kasabach-Merritt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200001 B-cell precursor lymphoblastic leukemia MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200002 Mature B-cell lymphoblastic leukemia MONDO:0000872 B-cell childhood acute lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200003 T-cell lymphoblastic leukemia MONDO:0004963 T-cell acute lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200004 Acute myeloid leukemia with minimal differentiation MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200005 Acute myeloid leukemia without maturation MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200006 Acute myeloid leukemia with maturation MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200007 Acute promyelocytic leukemia MONDO:0012883 acute promyelocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200008 Acute monocytic leukemia MONDO:0000875 adult acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200008 Acute monocytic leukemia MONDO:0007896 acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200009 Acute monocytic leukemia MONDO:0000875 adult acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200009 Acute monocytic leukemia MONDO:0007896 acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200010 Acute erythremia MONDO:0017858 acute erythroid leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200011 Acute megakaryoblastic leukemia MONDO:0018872 acute megakaryoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200012 NK cell leukemia MONDO:0019470 aggressive NK-cell leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200013 Chronic myeloid leukemia MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200014 Chronic myelomonocytic leukemia MONDO:0011908 juvenile myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200014 Chronic myelomonocytic leukemia MONDO:0020311 chronic myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200015 Juvenile myelomonocytic leukemia MONDO:0011908 juvenile myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200017 Acute undifferentiated leukemia MONDO:0019460 acute leukemia of ambiguous lineage MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200017 Acute undifferentiated leukemia MONDO:0020321 acute undifferentiated leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200018 Mixed phenotype acute leukemia MONDO:0019460 acute leukemia of ambiguous lineage MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200018 Mixed phenotype acute leukemia MONDO:0020743 mixed phenotype acute leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200019 Myelodysplastic syndrome MONDO:0018881 myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200019 Myelodysplastic syndrome MONDO:0044873 childhood myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200020 Mature B-cell lymphoma MONDO:0015759 B-cell non-Hodgkin lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200021 Anaplastic large cell lymphoma MONDO:0020325 anaplastic large cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200022 Precursor B lymphoblastic lymphoma MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200023 Precursor T lymphoblastic lymphoma MONDO:0044917 T-lymphoblastic lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200024 Hodgkin lymphoma MONDO:0004952 Hodgkins lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200029 Angioimmunoblastic T-cell lymphoma MONDO:0004977 angioimmunoblastic T-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200031 Langerhans cell histiocytosis MONDO:0017025 Langerhans cell histiocytosis specific to childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200031 Langerhans cell histiocytosis MONDO:0017029 Langerhans cell histiocytosis specific to adulthood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200031 Langerhans cell histiocytosis MONDO:0018310 Langerhans cell histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200032 Hemophagocytic lymphohistiocytosis MONDO:0015540 hemophagocytic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200034 Follicular dendritic cell sarcoma MONDO:0005764 follicular dendritic cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200035 Interdigitating dendritic cell sarcoma MONDO:0005813 interdigitating dendritic cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200036 Langerhans cell sarcoma MONDO:0019480 Langerhans cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200037 Juvenile xanthogranuloma MONDO:0015534 juvenile xanthogranuloma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200038 Erdheim-Chester disease MONDO:0018153 Erdheim-Chester disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200039 Rosai-Dorfman disease MONDO:0006412 sinus histiocytosis with massive lymphadenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200039 Rosai-Dorfman disease MONDO:0044354 obsolete Rosai-Dorfman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200040 Neuroblastoma MONDO:0005072 neuroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200041 Ganglioneuroblastoma MONDO:0005035 ganglioneuroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200042 Retinoblastoma MONDO:0008380 retinoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200043 Wilms tumour MONDO:0019004 kidney Wilms tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200044 Clear cell sarcoma of the kidney MONDO:0005006 clear cell sarcoma of kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200045 Renal cell carcinoma MONDO:0005086 renal cell carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200045 Renal cell carcinoma MONDO:0005549 renal cell adenocarcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200046 Hepatoblastoma MONDO:0018666 hepatoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200047 Hepatocellular carcinoma MONDO:0007256 hepatocellular carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200048 Osteosarcoma MONDO:0002623 pediatric osteosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200048 Osteosarcoma MONDO:0009807 osteosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200049 Osteochondromatosis MONDO:0005508 hereditary multiple osteochondromas MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200049 Osteochondromatosis MONDO:0008145 Ollier disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200050 Chondrosarcoma MONDO:0008977 chondrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200051 Chondroblastoma MONDO:0004997 chondroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200052 Malignancy in giant cell tumour of bone MONDO:0006287 malignancy in giant cell tumor of bone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200053 Ewing's sarcoma MONDO:0012817 Ewing sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200054 Primitive neuroectodermal tumors MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200055 Peripheral primitive neuroectodermal tumors MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200056 Rhabdomyosarcoma MONDO:0005212 rhabdomyosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200057 Malignant rhabdoid tumour MONDO:0002728 rhabdoid tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200058 Undifferentiated sarcoma MONDO:0005102 undifferentiated (embryonal) sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200059 Desmoplastic small round cell tumors MONDO:0019373 desmoplastic small round cell tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200060 Fibrosarcoma MONDO:0002676 adult fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200060 Fibrosarcoma MONDO:0002678 pediatric fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200060 Fibrosarcoma MONDO:0005164 fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200061 Synovial sarcoma MONDO:0010434 synovial sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200062 Clear cell sarcoma MONDO:0002926 clear cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200063 Alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200064 Leiomyosarcoma MONDO:0005058 leiomyosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200065 Liposarcoma MONDO:0003585 adult liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200065 Liposarcoma MONDO:0003587 pediatric liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200065 Liposarcoma MONDO:0005060 liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200066 Dysgerminoma MONDO:0003002 dysgerminoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200067 Embryonal carcinoma MONDO:0005440 embryonal carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200068 Polyembryoma MONDO:0015863 polyembryoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200069 Yolk sac tumour MONDO:0003759 childhood ovarian yolk sac tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200069 Yolk sac tumour MONDO:0005744 yolk sac tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200070 Choriocarcinoma MONDO:0005207 choriocarcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200071 Mixed germ cell tumour MONDO:0015864 mixed germ cell tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200072 Sex-cord stromal tumour MONDO:0006055 sex cord-stromal tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200073 Adrenocortical carcinoma MONDO:0006639 adrenal cortex carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200074 Thyroid cancer MONDO:0002108 thyroid cancer MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200074 Thyroid cancer MONDO:0015075 thyroid gland carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200076 Salivary grand carcinoma MONDO:0000521 salivary gland carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200077 Malignant melanoma MONDO:0005105 melanoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200078 Pheochromocytoma MONDO:0004974 adrenal gland pheochromocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200079 Malignant thymoma MONDO:0006451 thymic carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200080 Pleuropulmonaryblastoma MONDO:0011014 pleuropulmonary blastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200081 Bronchial tumour MONDO:0002807 bronchial neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200082 Pancreatoblastoma MONDO:0019035 pancreatoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200084 Pilocytic astrocytoma MONDO:0004000 childhood pilocytic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200084 Pilocytic astrocytoma MONDO:0016691 pilocytic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200085 Diffuse astrocytoma MONDO:0016686 diffuse astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200086 Anaplastic astrocytoma MONDO:0016684 anaplastic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200087 Glioblastoma MONDO:0018177 glioblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200087 Glioblastoma MONDO:0020690 adult glioblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200088 Ependymoma MONDO:0016698 ependymoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200089 Oligodendroglioma MONDO:0002540 childhood oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200089 Oligodendroglioma MONDO:0002543 adult oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200089 Oligodendroglioma MONDO:0016695 oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200090 Medulloblastoma MONDO:0002794 adult medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200090 Medulloblastoma MONDO:0002797 childhood medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200090 Medulloblastoma MONDO:0007959 medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200091 Craniopharyngioma MONDO:0018907 craniopharyngioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200092 Pineocytoma MONDO:0016723 pineocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200093 Choroid plexus papilloma MONDO:0009837 choroid plexus papilloma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200094 Meningioma MONDO:0003057 pediatric meningioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200094 Meningioma MONDO:0016642 meningioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200095 Pituitary adenoma MONDO:0006373 pituitary gland adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200096 Ganglioglioma MONDO:0016733 ganglioglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200097 Gangliocytoma MONDO:0016730 gangliocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200098 Chordoma MONDO:0008978 chordoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system MONDO:0000640 central nervous system primitive neuroectodermal neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system MONDO:0000640 central nervous system primitive neuroectodermal neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200101 Atypical teratoid, rhabdoid tumour MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200102 Malignant neurinoma MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200103 Neurinoma MONDO:0002546 schwannoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200104 Teratoma of the central nervous system MONDO:0002718 central nervous system teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200105 Mature teratoma MONDO:0003517 mature teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200106 Immature teratoma MONDO:0024746 immature teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200107 Teratoma with malignant transformation MONDO:0006444 teratoma with malignant transformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200108 Intracranial germ cell tumour MONDO:0004218 childhood germ cell brain tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200110 Congenital nephrotic syndrome of the Finnish type MONDO:0009732 congenital nephrotic syndrome, Finnish type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200111 Diffuse mesangial sclerosis MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200112 Minimal change nephrotic syndrome MONDO:0006835 lipoid nephrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200113 Focal segmental glomerulosclerosis MONDO:0005363 inherited focal segmental glomerulosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200114 Membranous nephropathy MONDO:0005376 membranous glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200116 Denys-Drash syndrome MONDO:0008682 Denys-Drash syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200117 Pierson syndrome MONDO:0012184 Pierson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200118 Central nervous system malformation syndrome MONDO:0020022 central nervous system malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200119 Herlitz junctional epidermolysis bullosa MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200120 Galloway-Mowat syndrome MONDO:0009627 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200121 IgA nephropathy MONDO:0005342 IgA glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200122 Mesangial proliferative glomerulonephritis MONDO:0003139 mesangial proliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200123 Membranoproliferative glomerulonephritis MONDO:0002461 membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200123 Membranoproliferative glomerulonephritis MONDO:0018904 primary membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200125 Goodpasture syndrome MONDO:0009303 anti-glomerular basement membrane disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200126 Alport syndrome MONDO:0018965 Alport syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200127 Epstein syndrome MONDO:0007954 obsolete May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200128 Lupus nephritis MONDO:0005556 lupus nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200131 Atypical hemolytic uremic syndrome MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200132 Nail-patella syndrome MONDO:0008061 nail-patella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy MONDO:0007671 fibronectin glomerulopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200134 Lipoprotein glomerulopathy MONDO:0012725 lipoprotein glomerulopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200136 Tubulointerstitial nephritis MONDO:0001085 interstitial nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200137 Chronic pyelonephritis MONDO:0001110 chronic pyelonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200138 Amyloid nephropathy MONDO:0007099 familial visceral amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200138 Amyloid nephropathy MONDO:0019065 amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200139 Familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200140 Nephronophthisis MONDO:0009728 nephronophthisis 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200140 Nephronophthisis MONDO:0019005 nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200141 Renovascular hypertension MONDO:0001105 renal hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200141 Renovascular hypertension MONDO:0006947 renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200144 Renal tubular acidosis MONDO:0001909 renal tubular acidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200145 Gitelman syndrome MONDO:0009904 Gitelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200146 Bartter syndrome MONDO:0015231 Bartter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200152 Polycystic kidney disease MONDO:0020642 polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200153 Autosomal dominant polycystic kidney disease MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200154 Autosomal recessive polycystic kidney disease MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200155 Hypoplastic kidney MONDO:0019637 renal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200156 Renal aplasia MONDO:0018470 renal agenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200157 Potter syndrome MONDO:0001558 Potter sequence MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200158 Multicystic dysplastic kidney MONDO:0015988 multicystic dysplastic kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200159 Oligomeganephronia MONDO:0016407 oligomeganephronia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200161 Renal dysplasia MONDO:0019638 renal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200170 Medullary cystic kidney MONDO:0019005 nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200171 Multilocular cysts of the kidney MONDO:0019983 multiloculated renal cyst MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200172 Simple renal cyst MONDO:0002473 cystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200173 Medullary sponge kidney MONDO:0015268 medullary sponge kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200176 Ureteropelvic junction obstruction MONDO:0007741 congenital hydronephrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200177 Megacalycosis MONDO:0019639 congenital megacalycosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200178 Obstructive uropathy MONDO:0003330 urinary tract obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200179 Vesicoureteral reflux MONDO:0006007 vesicoureteral reflux MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200183 Ureteroceles MONDO:0008628 ureterocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200184 Megaureter MONDO:0018960 congenital primary megaureter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200185 Prune belly syndrome MONDO:0007032 prune belly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200187 Fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200188 Lowe syndrome MONDO:0010645 oculocerebrorenal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200190 Laryngeal stenosis MONDO:0007879 larynx atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200190 Laryngeal stenosis MONDO:0015395 congenital subglottic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200194 Tracheal stenosis MONDO:0002568 tracheal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200195 Tracheomalacia MONDO:0019804 tracheomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200197 Bronchial asthma MONDO:0010940 inherited susceptibility to asthma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200198 Congenital central hypoventilation syndrome MONDO:0008852 obsolete congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200199 Idiopathic interstitial pneumonia MONDO:0002429 idiopathic interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200200 Congenital alveolar proteinosis MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200202 Pulmonary alveolar microlithiasis MONDO:0009928 pulmonary alveolar microlithiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200203 Primary ciliary dyskinesia MONDO:0016575 primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200204 Kartagener syndrome MONDO:0016575 primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200205 Cystic fibrosis MONDO:0009061 cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200206 Bronchiectasis MONDO:0004822 bronchiectasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200207 Idiopathic pulmonary hemosiderosis MONDO:0008346 pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200209 Bronchiolitis obliterans MONDO:0015265 bronchiolitis obliterans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200210 Congenital diaphragmatic hernia MONDO:0005711 congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200212 Sick sinus syndrome MONDO:0001823 sick sinus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200213 Mobitz type II second degree atrioventricular block MONDO:0001261 Mobitz type II atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200214 Complete atrio-ventricular block MONDO:0000468 third-degree atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200214 Complete atrio-ventricular block MONDO:0009326 congenital heart block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200215 Bundle branch block MONDO:0020803 obsolete bundle branch block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200216 Polymorphic ventricular premature beat MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200217 Supraventricular tachycardia due to WPW syndrome MONDO:0008685 Wolff-Parkinson-White syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200218 Multiple atrial tachycardia MONDO:0005310 atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200218 Multiple atrial tachycardia MONDO:0005479 atrial tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200225 Atrial flutter MONDO:0005310 atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200226 Atrial fibrillation MONDO:0004981 atrial fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200227 Ventricular fibrillation MONDO:0000190 ventricular fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200228 Long qt syndrome MONDO:0002442 long QT syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200228 Long qt syndrome MONDO:0019171 familial long QT syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200229 Hypertrophic cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200231 Non-compaction of the ventricle MONDO:0018901 left ventricular noncompaction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200232 Dilated cardiomyopathy MONDO:0005021 dilated cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200233 Restrictive cardiomyopathy MONDO:0005201 restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200234 Aneurysm of ventricle MONDO:0006779 heart aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200234 Aneurysm of ventricle MONDO:0015677 cardiac diverticulum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200235 Endocardial fibroelastosis MONDO:0009169 endocardial fibroelastosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200236 Cardiac tumor MONDO:0021209 heart neoplasm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200239 Constrictive pericarditis MONDO:0006711 constrictive pericarditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery MONDO:0000811 anomalous left coronary artery from the pulmonary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200246 Stenosis or atresia of coronary artery MONDO:0006715 coronary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200248 Myocardial infarction MONDO:0005068 myocardial infarction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200249 Hypoplastic left heart syndrome MONDO:0004933 hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200250 Single ventricle MONDO:0015451 univentricular heart MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200251 Tricuspid atresia MONDO:0011514 tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200252 Pulmonary atresia with ventricular septal defect MONDO:0008343 pulmonary atresia with ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200253 Pulmonary atresia with intact ventricular septum MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200254 Tetralogy of Fallot MONDO:0008542 tetralogy of fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200256 Double outlet right ventricle MONDO:0018089 double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200257 Double-outlet left ventricle MONDO:0018090 double outlet left ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200258 Complete transposition of the great arteries MONDO:0000153 transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200259 Congenitally corrected transposition of the great arteries MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200260 Ebstein's anomaly MONDO:0009144 Ebstein anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200261 Truncus arteriosus communis MONDO:0018072 persistent truncus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200262 Aorto-pulmonary window MONDO:0021902 aortopulmonary window MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200263 Cor triatriatum MONDO:0015450 triatrial heart MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200264 Patent ductus arteriosus MONDO:0011827 patent ductus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200266 Atrial septal defect, ostium secundum type MONDO:0020434 atrial septal defect, ostium secundum type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200266 Atrial septal defect, ostium secundum type MONDO:0020439 patent foramen ovale MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200267 Atrial septal defect, sinus venosus type MONDO:0020436 atrial septal defect, sinus venosus type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200268 Incomplete atrioventricular septal defect MONDO:0015275 partial atrioventricular canal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200269 Complete atrioventricular septal defect MONDO:0015273 complete atrioventricular canal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200270 Ventricular septal defect MONDO:0002070 ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200271 Total anomalous pulmonary venous connection MONDO:0007130 congenital total pulmonary venous return anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200272 Partial anomalous pulmonary venous connection MONDO:0020453 congenital partial pulmonary venous return anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200273 Pulmonary venous obstruction MONDO:0017864 congenital pulmonary veins atresia or stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200274 Left ventricular-right atrial communication MONDO:0020428 congenital Gerbode defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200275 Double-chambered right ventricle MONDO:0016581 conotruncal heart malformations MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200276 Subvalvular pulmonary stenosis MONDO:0006935 pulmonary subvalvular stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200277 Subvalvular aortic stenosis MONDO:0006987 subvalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200278 Supravalvular pulmonary stenosis MONDO:0017870 supravalvular pulmonary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200280 Absent pulmonary valve MONDO:0020064 pulmonary valve agenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200281 Origin of pulmonary artery from ascending aorta MONDO:0020391 pulmonary artery coming from the aorta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200282 Unilateral absence of a pulmonary artery MONDO:0020007 absence of the pulmonary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200283 Coarctation of the aorta MONDO:0007345 aorta coarctation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200284 Coarctation complex MONDO:0007345 aorta coarctation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200284 Coarctation complex MONDO:0015446 atypical coarctation of aorta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200285 Supravalvular aortic stenosis MONDO:0008504 supravalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200286 Williams syndrome MONDO:0008678 Williams syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200288 Interruption of aortic arch complex MONDO:0009010 aortic arch interruption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200290 Double aortic arch disease MONDO:0020413 encircling double aortic arch MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200293 Aneurysm of sinus valsalva MONDO:0015197 aneurysm of sinus of Valsalva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200294 Aortic aneurysm MONDO:0005160 aortic aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200295 Pulmonary arteriovenous fistulae MONDO:0009930 obsolete pulmonary arteriovenous malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200296 Coronary artery fistula MONDO:0016081 coronary arterial fistulas MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200298 Pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200299 Chronic cor pulmonale MONDO:0001493 chronic pulmonary heart disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200300 Tricuspid valve stenosis MONDO:0005997 tricuspid valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200301 Tricuspid valve regurgitation MONDO:0002870 tricuspid valve insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200302 Mitral valve stenosis MONDO:0005852 mitral valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200303 Mitral regurgitation MONDO:0001298 congenital mitral valve insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200304 Pulmonary valve stenosis MONDO:0006936 pulmonary valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200305 Pulmonary valve regurgitation MONDO:0001927 pulmonary valve insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200306 Aortic valve stenosis MONDO:0042981 aortic valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200307 Aortic valve regurgitation MONDO:0005648 aortic valve insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200308 Supramitral ring MONDO:0020400 congenital supravalvular mitral ring MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200312 Congenital hypopituitarism MONDO:0018762 non-acquired combined pituitary hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200313 Acquired hypopituitarism MONDO:0019832 acquired pituitary hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200314 Pituitary gigantism MONDO:0020479 pituitary gigantism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200315 Acromegaly MONDO:0019933 acromegaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200317 Congenital growth hormone deficiency MONDO:0000050 isolated congenital growth hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200320 IGF1 insensitivity MONDO:0010038 growth delay due to insulin-like growth factor I resistance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200321 Growth hormone insensitivity MONDO:0015892 growth hormone insensitivity syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200322 Hyperprolactinemia MONDO:0005804 hyperprolactinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:0006802 inappropriate ADH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200324 Central diabetes insipidus MONDO:0015790 central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200325 Adipsic hypernatremia MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200326 Nephrogenic diabetes insipidus MONDO:0016383 nephrogenic diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200328 Basedow disease MONDO:0005364 Graves disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200329 Hyperthyroidism MONDO:0004425 hyperthyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200330 Ectoic thyroid MONDO:0019854 thyroid ectopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200331 Thyroid agenesis MONDO:0019855 athyreosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200332 Thyroid-stimulating hormone deficiency MONDO:0016410 central congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200333 Congenital hypothyroidism MONDO:0018612 congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200335 Hashimoto disease MONDO:0007699 Hashimoto thyroiditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200336 Atrophic thyroiditis MONDO:0005624 atrophic thyroiditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200340 Central hypothyroidism MONDO:0016410 central congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200341 Resistance to thyroid hormone MONDO:0001328 thyroid hormone resistance syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200341 Resistance to thyroid hormone MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200343 Hyperparathyroidism MONDO:0001741 hyperparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200345 Hypoparathyroidism MONDO:0001220 hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200345 Hypoparathyroidism MONDO:0015895 obsolete syndrome with hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200346 Autoimmune polyendocrinopathy type 1 MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200347 Autoimmune polyendocrinopathy type 2 MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200348 Pseudopseudohypoparathyroidism MONDO:0012912 pseudopseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200349 Pseudohypoparathyroidism MONDO:0019992 pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200350 Cushing disease MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200351 Ectopic ACTH syndrome MONDO:0043472 ectopic ACTH secretion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200352 Adrenal adenoma MONDO:0003924 adrenal cortex adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200357 Congenital adrenal hypoplasia MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200357 Congenital adrenal hypoplasia MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200358 Glucocorticoid resistance MONDO:0014421 glucocorticoid resistance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200359 Other chronic adrenal insufficiency MONDO:0009410 obsolete Addison disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200359 Other chronic adrenal insufficiency MONDO:0015129 chronic primary adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200360 Addison's disease MONDO:0009410 obsolete Addison disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200360 Addison's disease MONDO:0015129 chronic primary adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200361 Aldosteronism MONDO:0001422 primary aldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200362 Apparent mineralocorticoid excess syndrome MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200362 Apparent mineralocorticoid excess syndrome MONDO:0009025 apparent mineralocorticoid excess MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200363 Liddle syndrome MONDO:0008323 Liddle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200365 Aldosterone synthase deficiency MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200367 Pseudohypoaldosteronism MONDO:0018638 pseudohypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200368 Pseudohypoaldosteronism type I MONDO:0019161 pseudohypoaldosteronism type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200369 Pseudohypoaldosteronism type II MONDO:0019162 pseudohypoaldosteronism type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200370 Congenital lipoid adrenal hyperplasia MONDO:0018479 congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200372 11-β-Hydroxylase deficiency MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200373 17 alpha-hydroxylase deficiency MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200374 21-Hydroxylase deficiency MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200375 P450 oxidoreductase deficiency MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200377 Gonadotropin-dependent precocious puberty MONDO:0019165 central precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200378 Non-gonadotropin-dependent precocious puberty MONDO:0015791 peripheral precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200379 Hyperestrogenism MONDO:0001946 obsolete hyperestrogenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200380 Hyperandrogenism MONDO:0001324 obsolete hyperandrogenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200381 Kallmann syndrome MONDO:0018800 Kallmann syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200382 Hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200383 Testicular dysgenesis MONDO:0005437 testicular dysgenesis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200384 Ovarian dysgenesis MONDO:0009299 46 XX gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200386 Klinefelter syndrome MONDO:0006823 Klinefelter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200387 Ovotesticular dsd MONDO:0016281 46,XX ovotesticular disorder of sex development MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200388 Mixed gonadal dysgenesis MONDO:0001969 mixed gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200388 Mixed gonadal dysgenesis MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200389 5 alpha-reductase deficiency MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200391 Androgen insensitivity syndrome MONDO:0019154 androgen insensitivity syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200393 Disorders of sex development of 46,XX MONDO:0020040 46,XY disorder of sex development MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200393 Disorders of sex development of 46,XX MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200394 Vipoma MONDO:0019960 VIPoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200395 Gastrinoma MONDO:0003523 gastrin-producing neuroendocrine tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200396 Carcinoid syndrome MONDO:0005369 carcinoid tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200396 Carcinoid syndrome MONDO:0006689 obsolete carcinoid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200397 Glucagonoma MONDO:0019959 glucagonoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200398 Insulinoma MONDO:0024677 pancreatic insulinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200399 Congenital hyperinsulinemia MONDO:0005803 hyperinsulinemic hypoglycemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200399 Congenital hyperinsulinemia MONDO:0017182 familial hyperinsulinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200401 Vitamin D-dependent rickets MONDO:0024299 vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200402 Vitamin D-resistant osteomalacia MONDO:0024300 hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200403 Primary hypophosphatemic rickets MONDO:0024300 hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200404 Lipodystrophy MONDO:0006573 lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200405 Multiple endocrine neoplasia type 1 MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200406 Multiple endocrine neoplasia type 2 MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200406 Multiple endocrine neoplasia type 2 MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200408 Von Hippel-Lindau disease MONDO:0008667 von Hippel-Lindau disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200409 Polycystic ovary syndrome MONDO:0008487 polycystic ovary syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200410 Turner syndrome MONDO:0019499 Turner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200411 Prader-Willi syndrome MONDO:0008300 Prader-Willi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200412 McCune-Albright syndrome MONDO:0018919 McCune-Albright syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200413 Noonan syndrome MONDO:0018997 Noonan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200414 Bardet-Biedl syndrome MONDO:0015229 Bardet-Biedl syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200415 Juvenile idiopathic arthritis MONDO:0011429 juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200416 Systemic lupus erythematosus MONDO:0007915 systemic lupus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200418 Juvenile dermatomyositis MONDO:0008054 juvenile dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200419 Juvenile polymyositis MONDO:0019734 juvenile polymyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200420 Sjogren's syndrome MONDO:0010030 Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200421 Anti-phospholipid antibody syndrome MONDO:0007140 obsolete antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200422 Behcet's disease MONDO:0007191 Behcet disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200423 Takayasu arteritis MONDO:0006656 aortitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200423 Takayasu arteritis MONDO:0017991 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200424 Granulomatosis with polyangiitis MONDO:0012105 granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200425 Polyangiitis nodosa MONDO:0019170 polyarteritis nodosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200426 Microscopic polyangiitis MONDO:0019124 microscopic polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200427 Eosinophilic granulomatosis with polyangiitis MONDO:0015943 eosinophilic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200428 Relapsing polychondritis MONDO:0019125 relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200429 Systemic sclerosis MONDO:0005100 systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200430 Mixed connective tissue disease MONDO:0005854 mixed connective tissue disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200431 Familial Mediterranean fever MONDO:0018088 familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200432 Cryopyrin-associated periodic syndrome MONDO:0016168 cryopyrin-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200433 TNF receptor-associated periodic fever syndrome MONDO:0007727 autosomal dominant familial periodic fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200434 Blau syndrome, early onset sarcoidosis MONDO:0008523 Blau syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200435 Nakajo-Nishimura syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200436 Hyper IgD syndrome MONDO:0009849 hyperimmunoglobulinemia D with periodic fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200436 Hyper IgD syndrome MONDO:0017708 mevalonate kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0004471 bacterial arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0018824 pyoderma gangrenosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200438 Chronic recurrent multifocal osteomyelitis MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200441 Adenosine deaminase 2 deficiency MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200443 CARD14 deficiency MONDO:0011269 psoriasis 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200444 Cherubism MONDO:0007315 cherubism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200446 IL10 deficiency MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200447 IL-10RA deficiency MONDO:0013153 inflammatory bowel disease 28 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200448 IL-10RB deficiency MONDO:0012941 inflammatory bowel disease 25 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200449 NLRP12-associated periodic syndrome MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200449 NLRP12-associated periodic syndrome MONDO:0018768 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200450 Deficiency of the enzyme ADA2 MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200451 PLCg2 deficiency MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200452 IL36RN deficiency MONDO:0013626 psoriasis 14, pustular MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200453 Majeed syndrome MONDO:0012316 Majeed syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200454 NLRP12-associated periodic syndrome MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200454 NLRP12-associated periodic syndrome MONDO:0018768 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200456 RBCK1 deficiency MONDO:0018348 obsolete polyglucosan body myopathy type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200457 SLC29A3 deficiency MONDO:0011273 H syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200458 A20 haploinsufficiency MONDO:0100222 A20 haploinsufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200459 NLRC4 mutation MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200460 Diabetes mellitus type 1 MONDO:0005147 type 1 diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200461 Diabetes mellitus type 2 MONDO:0005148 type 2 diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200461 Diabetes mellitus type 2 MONDO:0007452 maturity-onset diabetes of the young type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200462 Maturity-onset diabetes of the young MONDO:0018911 maturity-onset diabetes of the young MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200463 Neonatal diabetes mellitus MONDO:0016391 neonatal diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200465 Lipoatrophic diabetes MONDO:0005827 lipoatrophic diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200465 Lipoatrophic diabetes MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200467 Phenylketonuria MONDO:0009861 phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200468 Tyrosinemia type 1 MONDO:0010161 tyrosinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200469 Tyrosinemia type 2 MONDO:0010160 tyrosinemia type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200470 Tyrosinemia type 3 MONDO:0010162 tyrosinemia type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200471 Hyperprolinemia MONDO:0023419 hyperprolinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200472 Prolidase deficiency MONDO:0008221 prolidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200473 Maple syrup urine disease MONDO:0009563 maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200474 Homocystinuria MONDO:0004737 homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200475 Hypermethioninemia MONDO:0000351 disorder of methionine catabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200476 Nonketotic hyperglycinemia MONDO:0011612 glycine encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200477 N-acetylglutamate synthetase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200478 Carbamoylphosphate synthetase deficiency MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200479 Ornithine transcarbamylase deficiency MONDO:0010703 ornithine carbamoyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200480 Argininosuccinate synthetase deficiency MONDO:0008988 citrullinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200481 Argininosuccinic aciduria MONDO:0008815 argininosuccinic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200482 Hyperargininemia MONDO:0008814 hyperargininemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200483 Citrin deficiency MONDO:0016602 citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200484 Hyperornithinemia MONDO:0009796 ornithine aminotransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200486 Gyrate atrophy of choroid and retina MONDO:0009796 ornithine aminotransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200487 Hartnup disease MONDO:0009324 Hartnup disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200488 Lysinuric protein intolerance MONDO:0009109 lysinuric protein intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200489 Cystinuria MONDO:0009067 cystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200491 Methylmalonic acidemia MONDO:0002012 methylmalonic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200492 Propionic acidemia MONDO:0011628 propionic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200493 Beta-ketothiolase deficiency MONDO:0008760 beta-ketothiolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200494 Isovaleric acidemia MONDO:0009475 isovaleric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200496 Methylglutaconic aciduria MONDO:0017359 3-methylglutaconic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200497 3-hydroxy-3-methylglutaric acidemia MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200500 Multiple carboxylase deficiency MONDO:0015454 multiple carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200501 Glutaric acidemia type 1 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200502 Glutaric acidemia type 2 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200503 Primary hyperoxaluria MONDO:0002474 primary hyperoxaluria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200504 Alkaptonuria MONDO:0008753 alkaptonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200505 Glycerol kinase deficiency MONDO:0010613 inborn glycerol kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200506 Inborn errors of bile acid metabolism MONDO:0019218 inborn disorder of bile acid synthesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200508 Organic cation transporter 2 deficiency MONDO:0008919 systemic primary carnitine deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200509 Carnitine palmitoyltransferase I deficiency MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200510 Carnitine palmitoyltransferase II deficiency MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200511 Carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200515 Trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200518 Pyruvate dehydrogenase complex deficiency MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200519 Pyruvate carboxylase deficiency MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200520 Fumarase deficiency MONDO:0011730 fumaric aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200522 Mitochondrial respiratory chain disorders MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200523 Mitochondrial DNA depletion syndrome MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200524 Diseases due to mitochondrial DNA mutation MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) MONDO:0010789 MELAS syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers MONDO:0010790 MERRF syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200527 Leigh syndrome MONDO:0009723 Leigh syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200528 Diseases due to mitochondrial DNA deletion MONDO:0018158 mitochondrial DNA depletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200529 Kearns-Sayre syndrome MONDO:0010787 Kearns-Sayre syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200531 Hereditary fructose intolerance MONDO:0009249 hereditary fructose intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency MONDO:0009258 classic galactosemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200533 Galactokinase deficiency MONDO:0009255 galactokinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200534 UDP-galactose-4-epimerase deficiency MONDO:0009257 galactose epimerase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200535 Fructose-1,6-bisphosphatase deficiency MONDO:0009251 fructose-1,6-bisphosphatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200537 Glycogen synthase deficiency MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200538 Glycogen storage disease type I MONDO:0002413 glycogen storage disease I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200539 Glycogen storage disease type III MONDO:0009291 glycogen storage disease III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200540 Glycogen storage disease type IV MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200541 Glycogen storage disease type V MONDO:0009293 glycogen storage disease V MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200542 Glycogen storage disease type VI MONDO:0009294 glycogen storage disease VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200543 Glycogen storage disease type VII MONDO:0009295 glycogen storage disease VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200544 Glycogen storage disease type IX MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200545 Glucose transporter 1 deficiency MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200547 Mucopolysaccharidosis type I MONDO:0001586 mucopolysaccharidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200548 Mucopolysaccharidosis type II MONDO:0010674 mucopolysaccharidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200549 Mucopolysaccharidosis type III MONDO:0018937 mucopolysaccharidosis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200550 Mucopolysaccharidosis type IV MONDO:0018938 mucopolysaccharidosis type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200551 Mucopolysaccharidosis type VI MONDO:0009661 mucopolysaccharidosis type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200552 Mucopolysaccharidosis type VII MONDO:0009662 mucopolysaccharidosis type 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200553 Fucosidosis MONDO:0009254 fucosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200555 Aspartylglucosaminuria MONDO:0008830 aspartylglucosaminuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200556 Sialidosis MONDO:0017734 sialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200557 Galactosialidosis MONDO:0009737 galactosialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200558 GM1 Gangliosidosis MONDO:0018149 GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200559 GM2 gangliosidosis MONDO:0017720 GM2 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200560 Metachromatic leukodystrophy MONDO:0018868 metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200561 Niemann-Pick disease MONDO:0001982 Niemann-Pick disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200562 Gaucher disease MONDO:0018150 Gaucher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200563 Fabry disease MONDO:0010526 Fabry disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200564 Krabbe disease MONDO:0009499 Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200565 Farber disease MONDO:0009218 Farber lipogranulomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200566 Multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200567 Mucolipidosis II MONDO:0009650 mucolipidosis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200568 Mucolipidosis III MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200569 Pompe disease MONDO:0009290 glycogen storage disease II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200570 Acid lipase deficiency MONDO:0019148 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200571 Cystinosis MONDO:0016239 cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200572 Free Sialic Acid Storage Disease MONDO:0019366 free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200573 Neuronal ceroid lipofuscinoses MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200575 Peroxisome biogenesis disorders MONDO:0019234 peroxisome biogenesis disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200576 Adrenoleukodystrophy MONDO:0018544 adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200577 Refsum disease MONDO:0009958 adult Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200579 Wilson disease MONDO:0010200 Wilson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200580 Menkes disease MONDO:0010651 Menkes disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200581 Occipital horn syndrome MONDO:0010572 occipital horn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200582 Aceruloplasminemia MONDO:0011426 aceruloplasminemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200583 Sulfite oxidase deficiency MONDO:0010089 isolated sulfite oxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200584 Acrodermatitis enteropathica MONDO:0008713 acrodermatitis enteropathica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200586 Lesch-Nyhan syndrome MONDO:0010298 Lesch-Nyhan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200586 Lesch-Nyhan syndrome MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200587 Adenine phosphoribosyltransferase deficiency MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200588 Xanthinuria MONDO:0000721 xanthinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200590 Orotic aciduria MONDO:0009797 orotic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200592 Hereditary folate malabsorption MONDO:0009238 hereditary folate malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200594 Tetrahydrobiopterin deficiency MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200595 Tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200597 Dopamine beta hydroxylase deficiency MONDO:0009123 orthostatic hypotension 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency MONDO:0013166 GABA aminotransaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200602 Familial hypercholesterolemia MONDO:0005439 familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200602 Familial hypercholesterolemia MONDO:0007750 hypercholesterolemia, familial, 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200602 Familial hypercholesterolemia MONDO:0016525 familial hyperaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200603 Familial combined hyperlipidemia MONDO:0001336 familial hyperlipidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200604 Abetalipoproteinemia MONDO:0008692 abetalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200605 HDL deficiency MONDO:0017773 hypoalphalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200605 HDL deficiency MONDO:0100189 apolipoprotein A-I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200607 Ehlers-Danlos syndrome MONDO:0020066 Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200608 Lipoid proteinosis MONDO:0009530 lipoid proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200610 Congenital porphyria MONDO:0019142 inherited porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200611 Alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200612 Megaloblastic anemia MONDO:0001700 megaloblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200613 Acquired pure red cell aplasia MONDO:0020338 adult pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200614 Congenital red cell aplasia MONDO:0015253 Diamond-Blackfan anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200615 Congenital dyserythropoietic anemia MONDO:0019403 congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200616 Sideroblastic anemia MONDO:0015194 sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200617 Congenital atransferrinemia MONDO:0008846 atransferrinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200618 Cold agglutinin disease MONDO:0018922 cold agglutinin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200619 Paroxysmal cold hemoglobinuria MONDO:0019533 paroxysmal cold hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200621 Paroxysmal nocturnal hemoglobinuria MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200622 Hereditary spherocytosis MONDO:0019350 hereditary spherocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200623 Hereditary stomatocytosis MONDO:0020102 hereditary stomatocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200624 Sickle cell disease MONDO:0011382 sickle cell anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200625 Unstable hemoglobin disease MONDO:0020459 unstable hemoglobin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200626 Thalassemia MONDO:0000984 thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency MONDO:0005775 G6PD deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200630 Hereditary elliptocytosis MONDO:0017319 hereditary elliptocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200631 Hereditary pyropoikilocytosis MONDO:0009948 pyropoikilocytosis, hereditary MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200633 Stomatocytic xerocytosis MONDO:0017910 dehydrated hereditary stomatocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia MONDO:0008367 red cell phospholipid defect with hemolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200635 Hemoglobin C disease MONDO:0016242 hemoglobin C disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200636 Hemolytic anemia MONDO:0003664 hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200637 Hypersplenism MONDO:0006795 hypersplenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200639 Disseminated intravascular coagulation MONDO:0001243 disseminated intravascular coagulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200641 Atypical hemolytic uremic syndrome MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200643 Polycythemia vera MONDO:0009891 acquired polycythemia vera MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200644 Familial polycythemia MONDO:0001115 familial polycythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200645 Immune thrombocytopenic purpura MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200647 Neonatal alloimmune thrombocytopenia MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200648 Heparin-induced thrombocytopenia MONDO:0018048 heparin-induced thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200649 Thrombotic thrombocytopenic purpura MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200651 Congenital amegakaryocytic thrombocytopenia MONDO:0011469 congenital amegakaryocytic thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200652 Fanconi anemia MONDO:0019391 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200653 Cyclic thrombocytopenia MONDO:0008556 thrombocytopenia, cyclic MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200654 May-Hegglin anomaly MONDO:0007954 obsolete May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200655 Essential thrombocythemia MONDO:0005029 essential thrombocythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200656 Bernard-Soulier syndrome MONDO:0009276 Bernard-Soulier syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200657 Thrombasthenia MONDO:0010119 obsolete Glanzmann's thrombasthenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200661 Thrombocytopenia with absent radii MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200662 Familial platelet disorder with propensity to myeloid. MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200663 Autosomal dominant thrombocytopenia 2 MONDO:0008555 thrombocytopenia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200664 ITGA2B/ITGB3 mutations MONDO:0010119 obsolete Glanzmann's thrombasthenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200665 ACTN1 mutations MONDO:0014078 platelet-type bleeding disorder 15 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200667 β-1 tubulin disorders MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200668 Platelet-type von Willebrand disease MONDO:0008332 platelet-type von Willebrand disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200669 ADP receptor deficiencies MONDO:0012354 platelet-type bleeding disorder 8 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200670 Abnormalities in platelet collagen receptors MONDO:0013623 platelet-type bleeding disorder 11 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200671 Scott syndrome MONDO:0009885 Scott syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200672 Afibrinogenemia MONDO:0008737 congenital afibrinogenemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200673 Hypoprothrombinemia MONDO:0013361 congenital prothrombin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200674 Factor V deficiency MONDO:0020586 factor V deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200675 Factor VII deficiency MONDO:0002244 factor VII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200676 Hemophilia A MONDO:0010602 hemophilia A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200677 Hemophilia B MONDO:0010604 hemophilia B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200678 Factor X deficiency MONDO:0002247 factor X deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200679 Factor XI deficiency MONDO:0020587 factor XI deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200680 Factor XII deficiency MONDO:0009315 congenital factor XII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200681 Factor XIII deficiency MONDO:0002241 factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200681 Factor XIII deficiency MONDO:0018029 congenital factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200682 Von Willebrand disease MONDO:0024574 von Willebrand disease (hereditary or acquired) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200684 Congenital prekallikrein deficiency MONDO:0012901 inherited prekallikrein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200684 Congenital prekallikrein deficiency MONDO:0044744 prekallikrein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200685 High molecular weight kininogen deficiency MONDO:0009234 congenital high-molecular-weight kininogen deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200686 Combined deficiency of coagulation factors V and VIII MONDO:0018175 combined deficiency of factor V and factor VIII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200687 Alpha-2-plasmin inhibitor deficiency MONDO:0009883 alpha-2-plasmin inhibitor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200689 Protein C deficiency MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200690 Protein S deficiency MONDO:0002304 protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200692 Myelofibrosis MONDO:0044903 myelofibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200693 Aplastic anemia MONDO:0015909 aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200694 X-linked severe combined immunodeficiency MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200695 Reticular dysgenesis MONDO:0009973 reticular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200696 Adenosine deaminase deficiency MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200697 Omenn syndrome MONDO:0011338 Omenn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200698 Purine nucleoside phosphorylase deficiency MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200699 CD8 deficiency MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200700 ZAP-70 deficiency MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200701 MHC class I deficiency MONDO:0011476 MHC class I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200702 MHC class II deficiency MONDO:0008855 MHC class II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200704 Wiskott-Aldrich syndrome MONDO:0010518 Wiskott-Aldrich syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200705 Ataxia telangiectasia MONDO:0008840 ataxia telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200706 Nijmegen breakage syndrome MONDO:0009623 Nijmegen breakage syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200707 Bloom syndrome MONDO:0008876 Bloom syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200708 ICF syndrome MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200710 RIDDLE syndrome MONDO:0012764 RIDDLE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200711 Schimke syndrome MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200712 Thymus hypoplasia MONDO:0008564 DiGeorge syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200712 Thymus hypoplasia MONDO:0008644 velocardiofacial syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200712 Thymus hypoplasia MONDO:0018923 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200713 Hyper-IgE syndrome MONDO:0018037 hyper-IgE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200715 Dyskeratosis congenita MONDO:0015780 dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200716 X-linked agammaglobulinemia MONDO:0010421 Bruton-type agammaglobulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200717 Common variable immunodeficiency MONDO:0015517 common variable immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200718 Hyper-IgM syndrome MONDO:0003947 hyper-IgM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200719 Isolated IgG subclass deficiency MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200720 Selective IgA deficiency MONDO:0001341 selective IgA deficiency disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200724 Chédiak-Higashi syndrome MONDO:0008963 Chediak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200725 X-linked lymphoproliferative syndrome MONDO:0010627 X-linked lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200726 Autoimmune lymphoproliferative syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200728 Perforin deficiency MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200729 UNC13D/Munc13-4 deficiency MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200730 Syntaxin 11 deficiency MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200731 STXBP2/Munc18-2 deficiency MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200732 Griscelli syndrome type 2 MONDO:0011872 Griscelli syndrome type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200733 Hermansky-Pudlak syndrome type 2 MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200734 IL-2-inducible T-cell kinase deficiency MONDO:0013081 lymphoproliferative syndrome 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200735 CD27 deficiency MONDO:0016536 autosomal recessive lymphoproliferative disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity MONDO:0011664 immunodeficiency due to CD25 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200737 STAT5b deficiency MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200740 Caspase-8 deficiency MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200741 Fas-associated death domain protein deficiency MONDO:0013408 FADD-related immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200743 PKC-δ deficiency MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200745 Severe congenital neutropenia MONDO:0018542 severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200746 Cyclic neutropenia MONDO:0008090 cyclic hematopoiesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome MONDO:0011405 poikiloderma with neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200750 Cohen syndrome MONDO:0008999 Cohen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200751 Barth syndrome MONDO:0010543 Barth syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200752 P14 deficiency MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200753 X linked severe congenital neutropenia MONDO:0010294 X-linked severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200754 Glycogen storage disease type 1b MONDO:0009288 glycogen storage disease Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200755 Leukocyte adhesion deficiency MONDO:0017570 leukocyte adhesion deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200756 Shwachman-Diamond syndrome MONDO:0009833 Shwachman-Diamond syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200757 Chronic granulomatous disease MONDO:0018305 chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200758 Myeloperoxidase deficiency MONDO:0009694 myeloperoxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200759 Mendelian susceptibility to mycobacterial disease MONDO:0019146 inherited susceptibility to mycobacterial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200762 IRAK4 deficiency MONDO:0011888 immunodeficiency 67 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200763 MyD88 deficiency MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200764 Chronic mucocutaneous candidiasis MONDO:0015279 chronic mucocutaneous candidiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200766 HOIL-1 deficiency MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200767 WHIM syndrome MONDO:0008674 obsolete WHIM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200768 Epidermodysplasia verruciformis MONDO:0009176 epidermodysplasia verruciformis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200770 STAT2 deficiency MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200771 MCM4 mutation MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200772 Herpes simplex encephalitis MONDO:0012521 herpes simplex encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200773 CARD9 deficiency MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200774 Trypanosomiasis MONDO:0000940 trypanosomiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200775 Isolated congenital asplenia MONDO:0010066 familial isolated congenital asplenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200776 Inherited deficiency of complement system MONDO:0003832 complement deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200777 C1q deficiency MONDO:0013343 C1Q deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200779 C1s deficiency MONDO:0013419 complement component C1s deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200781 C2 deficiency MONDO:0009006 complement component 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200782 C3 deficiency MONDO:0013417 complement component 3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200783 C5 deficiency MONDO:0012295 complement component 5 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200784 C6 deficiency MONDO:0012908 complement component 6 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200785 C7 deficiency MONDO:0012412 complement component 7 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200787 C9 deficiency MONDO:0013445 complement component 9 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200788 Factor D deficiency MONDO:0013487 recurrent Neisseria infections due to factor D deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200789 Properdin deficiency MONDO:0010713 properdin deficiency, X-linked MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200790 Factor I deficiency MONDO:0012594 complement factor I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200791 Factor H deficiency MONDO:0012350 complement factor H deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome MONDO:0017398 3MC syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200793 MASP2 deficiency MONDO:0013423 immunodeficiency due to MASP-2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200794 Ficolin 3 Deficiency MONDO:0013467 immunodeficiency due to ficolin3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200795 Hereditary angioedema MONDO:0007361 C1 inhibitor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200795 Hereditary angioedema MONDO:0019623 hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200797 Factor B deficiency MONDO:0014255 complement factor b deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200798 Factor I deficiency MONDO:0012594 complement factor I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200801 CD21 deficiency MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200801 CD21 deficiency MONDO:0013862 immunodeficiency, common variable, 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200803 CD46 deficiency MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200804 Primary CD59 deficiency MONDO:0012858 primary CD59 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200805 Hyper eosinophilic syndrome MONDO:0015691 hypereosinophilic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200806 Hypereosinophilic syndrome MONDO:0015691 hypereosinophilic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200807 Eosinophilic gastrointestinal disorders MONDO:0018438 eosinophilic gastrointestinal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200808 Chronic active EB virus infection MONDO:0009194 immunodeficiency 32B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200809 Acquired immune deficiency syndrome MONDO:0012268 AIDS MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200810 HIV infection MONDO:0005109 HIV infectious disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200812 Chronic graft-versus-host disease MONDO:0020547 chronic graft versus host disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200813 Meningoencephalocele MONDO:0017079 meningoencephalocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200814 Myelomeningocele MONDO:0017069 spina bifida cystica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200814 Myelomeningocele MONDO:0019773 myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200815 Spinal lipoma MONDO:0001790 spinal cord lipoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200816 Sacrococcygeal teratoma MONDO:0042727 sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200817 Lissencephaly MONDO:0018838 lissencephaly spectrum disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200818 Schizencephaly MONDO:0010011 schizencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200819 Holoprosencephaly MONDO:0016296 holoprosencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200820 Septo-optic dysplasia MONDO:0008428 septooptic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200821 Dandy-Walker syndrome MONDO:0009072 Dandy-Walker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200822 Congenital hydrocephalus MONDO:0016349 congenital hydrocephalus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200823 Megalencephaly-capillary malformation syndrome MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200824 Joubert syndrome related disorders MONDO:0015369 Joubert syndrome and related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200825 Rett syndrome MONDO:0010726 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200826 Tuberous sclerosis complex MONDO:0001734 tuberous sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200826 Tuberous sclerosis complex MONDO:0019341 obsolete tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200827 Neurocutaneous melanosis MONDO:0009578 neurocutaneous melanocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200828 Gorlin syndrome MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200829 von Hippel-Lindau disease MONDO:0008667 von Hippel-Lindau disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200830 Sturge-Weber syndrome MONDO:0008501 Sturge-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200831 Werner syndrome MONDO:0010196 Werner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200832 Cockayne syndrome MONDO:0016006 Cockayne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200833 Hutchinson-Gilford syndrome MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200834 Canavan disease MONDO:0010079 Canavan disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200835 Alexander disease MONDO:0008752 Alexander disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200836 Congenital hypomyelinating leukodystrophy MONDO:0019046 leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200838 Vanishing white matter disease MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200839 ATR-X syndrome MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200840 Fragile X syndrome MONDO:0010383 fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200842 Cerebral creatine deficiency syndrome MONDO:0000456 cerebral creatine deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200843 Non-syndromic craniosynostosis MONDO:0015337 isolated craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200844 Apert syndrome MONDO:0007041 Apert syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200845 Crouzon disease MONDO:0007405 Crouzon syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200847 Carpenter syndrome MONDO:0019012 Carpenter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200848 Saethre-Chotzen syndrome MONDO:0007042 Saethre-Chotzen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200850 Moyamoya disease MONDO:0016820 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200851 Cerebral arteriovenous malformation MONDO:0007154 arteriovenous malformations of the brain MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200852 Cavernous angioma of the brain and spinal cord MONDO:0002327 intracranial cavernous angioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200853 Spinal muscular atrophy MONDO:0001516 spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200854 Congenital insensitivity to pain with anhidrosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200855 Hereditary Motor and Sensory Neuropathy MONDO:0015358 hereditary motor and sensory neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200855 Hereditary Motor and Sensory Neuropathy MONDO:0015626 Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200856 Duchenne muscular dystrophy MONDO:0010679 Duchenne muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200857 Emery-Dreifuss muscular dystrophy MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200858 Limb-girdle muscular dystrophy MONDO:0016971 limb-girdle muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200859 Facioscapulohumeral muscular dystrophy MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200860 Fukuyama type congenital muscular dystrophy MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200861 Merosin-deficient congenital muscular dystrophy MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200862 Ullrich congenital muscular dystrophy MONDO:0000355 Ullrich congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200864 Myotonic dystrophy MONDO:0016107 myotonic dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200865 Becker muscular dystrophy MONDO:0010311 Becker muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200866 LMNA-related congenital muscular dystrophy MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200867 Myotubular myopathy MONDO:0002921 congenital structural myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200867 Myotubular myopathy MONDO:0018947 centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200868 Congenital fiber-type disproportion myopathy MONDO:0009711 congenital fiber-type disproportion myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200869 Nemaline myopathy MONDO:0018958 nemaline myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200870 Central core disease MONDO:0007294 central core myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200871 Multicore disease MONDO:0018948 multiminicore myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200872 Minicore myopathy MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200875 Reducing body myopathy MONDO:0019948 reducing body myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200876 Schwartz-Jampel syndrome MONDO:0009717 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200877 Severe myoclonic epilepsy in infancy MONDO:0100135 Dravet syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200878 West syndrome MONDO:0018097 West syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200879 Lennox-Gastaut syndrome MONDO:0016532 Lennox-Gastaut syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200880 Unverricht-Lundborg disease MONDO:0009698 Unverricht-Lundborg syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200881 Lafora disease MONDO:0009697 Lafora disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200882 Spinocerebellar degeneration MONDO:0000437 cerebellar ataxia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200883 Alternating hemiplegia of childhood MONDO:0016241 alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200884 Dystonia musculorum deformans MONDO:0007492 early-onset generalized limb-onset dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200885 Segawa syndrome MONDO:0016812 dopa-responsive dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200886 Pantothenate kinase-associated neurodegeneration MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200887 Infantile neuroaxonal dystrophy MONDO:0009739 obsolete infantile neuroaxonal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200888 Infantile bilateral striatal necrosis MONDO:0015518 infantile bilateral striatal necrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200889 Congenital herpes simplex virus infection MONDO:0017381 congenital herpes simplex virus infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200890 Congenital rubella syndrome MONDO:0005713 obsolete MONDO:0005713 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200890 Congenital rubella syndrome MONDO:0017361 congenital rubella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200891 Congenital cytomegalovirus infection MONDO:0017409 fetal cytomegalovirus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200892 Congenital toxoplasmosis MONDO:0005715 congenital toxoplasmosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200893 Aicardi-Goutières Syndrome MONDO:0018866 Aicardi-Goutieres syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200894 Aicardi-Goutieres syndrome 2 MONDO:0012429 Aicardi-Goutieres syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200895 Aicardi-Goutieres syndrome 3 MONDO:0012471 Aicardi-Goutieres syndrome 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200897 Aicardi-Goutieres syndrome 5 MONDO:0013059 Aicardi-Goutieres syndrome 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200898 Aicardi-Goutieres syndrome 6 MONDO:0014007 Aicardi-Goutieres syndrome 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200899 Subacute sclerosing panencephalitis MONDO:0009835 subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200900 Rasmussen's encephalitis MONDO:0016019 Rasmussen subacute encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200902 Autoimmune encephalitis MONDO:0020640 autoimmune encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures MONDO:0015584 febrile infection-related epilepsy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200904 Multiple sclerosis MONDO:0005301 multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:0007691 Guillain-Barre syndrome, familial MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200906 Myasthenia gravis MONDO:0009688 myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200907 Lactose intolerance MONDO:0009116 obsolete lactose intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200908 Congenital sucrase-isomaltase deficiency MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200909 Glucose-galactose malabsorption MONDO:0011731 glucose-galactose malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200910 Enterokinase deficiency MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200911 Amylase deficiency MONDO:0015169 chronic diarrhea due to glucoamylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200912 Lipase deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200913 Microvillus inclusion disease MONDO:0009635 microvillus inclusion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200914 Intestinal lymphangiectasia MONDO:0018178 intestinal lymphangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200915 Familial adenomatous polyposis MONDO:0021055 classic familial adenomatous polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200916 Juvenile polyposis MONDO:0017380 juvenile polyposis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200917 Peutz-Jeghers syndrome MONDO:0008280 Peutz-Jeghers syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200918 Cowden syndrome MONDO:0016063 Cowden disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200919 Cyclic vomiting syndrome MONDO:0010778 cyclic vomiting syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200920 Ulcerative colitis MONDO:0005101 ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200921 Crohn's disease MONDO:0005011 Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200923 Autoimmune enteropathy MONDO:0019787 autoimmune enteropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200924 IPEX syndrome MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200930 biliary atresia MONDO:0008867 biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200930 biliary atresia MONDO:0028737 obsolete biliary atresia disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200931 Alagille syndrome MONDO:0007318 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200933 Progressive familial intrahepatic cholestasis MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200934 Caroli disease MONDO:0010913 Caroli disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200934 Caroli disease MONDO:0018808 Caroli syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200936 Congenital hepatic fibrosis MONDO:0018840 isolated congenital hepatic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200937 Liver cirrhosis MONDO:0005155 cirrhosis of liver MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200941 Crigler-Najjar syndrome MONDO:0009044 Crigler-Najjar syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200942 Hereditary pancreatitis MONDO:0008185 hereditary chronic pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200943 Autoimmune pancreatitis MONDO:0015175 autoimmune pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200944 Short bowel syndrome MONDO:0015183 short bowel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200945 Hirschsprung disease MONDO:0018309 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction MONDO:0017574 chronic intestinal pseudoobstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200948 Congenital Isolated Hypoganglionosis MONDO:0008738 aganglionosis, total intestinal MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200948 Congenital Isolated Hypoganglionosis MONDO:0018309 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200950 Persistent cloaca MONDO:0009774 cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200951 Cloacal exstrophy MONDO:0009774 cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200952 Coffin-Lowry syndrome MONDO:0010561 Coffin-Lowry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200953 Sotos syndrome MONDO:0019349 Sotos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200954 Smith-Magenis syndrome MONDO:0008434 Smith-Magenis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200955 Rubinstein-Taybi syndrome MONDO:0019188 Rubinstein-Taybi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200956 Kabuki syndrome MONDO:0016512 Kabuki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200957 Weaver syndrome MONDO:0010193 Weaver syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200958 Cornelia de Lange syndrome MONDO:0016033 Cornelia de Lange syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200959 Beckwith-Wiedemann syndrome MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200960 Angelman syndrome MONDO:0007113 Angelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200961 5p- syndrome MONDO:0007404 Cri-du-chat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200962 4p- Syndrome MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200963 Trisomy 18 MONDO:0018071 trisomy 18 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200964 Trisomy 13 MONDO:0018068 trisomy 13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200965 Down syndrome MONDO:0008608 Down syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200967 CFC Syndrome MONDO:0015280 cardiofaciocutaneous syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200968 Marfan syndrome MONDO:0007947 Marfan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200969 Loeys-Dietz syndrome MONDO:0018954 Loeys-Dietz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200970 Camurati-Engelmann disease MONDO:0007542 Camurati-Engelmann disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200971 Costello syndrome MONDO:0009026 Costello syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200972 CHARGE syndrome MONDO:0008965 CHARGE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200973 Hallermann-Streiff syndrome MONDO:0009318 Hallermann-Streiff syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200974 Incontinentia pigmenti MONDO:0010631 incontinentia pigmenti MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200975 Antley-Bixler syndrome MONDO:0008803 Antley-Bixler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200976 Pfeiffer syndrome MONDO:0005810 infectious mononucleosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200976 Pfeiffer syndrome MONDO:0007043 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200977 Coffin-Siris syndrome MONDO:0015452 Coffin-Siris syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200978 Simpson-Golabi-Behmel syndrome MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200979 Smith-Lemli-Opitz syndrome MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200980 Moebius syndrome MONDO:0008006 Mobius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200981 Mowat-Wilson syndrome MONDO:0009341 Mowat-Wilson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200982 Young-Simpson syndrome MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200983 VATER syndrome MONDO:0008642 VACTERL/vater association MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200984 MECP2 duplication syndrome MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200985 Takenouchi-Kosaki syndrome MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200986 Oculocutaneous albinism MONDO:0018910 oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200987 Keratinopathic ichthyosis MONDO:0017266 keratinopathic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200988 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 autosomal dominant epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200989 Autosomal recessive epidermolytic ichthyosis MONDO:0044742 autosomal recessive epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200990 Superficial epidermolytic ichthyosis MONDO:0007813 superficial epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200991 Autosomal recessive congenital ichthyosis MONDO:0017265 autosomal recessive congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200992 Harlequin ichthyosis MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200993 Netherton syndrome MONDO:0009735 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200994 Sjögren-Larsson syndrome MONDO:0010031 Sjogren-Larsson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200996 Keratitis-ichthyosis-deafness syndrome MONDO:0018781 KID syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200997 Dorfman-Chanarin syndrome MONDO:0010155 Dorfman-Chanarin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200997 Dorfman-Chanarin syndrome MONDO:0015611 neutral lipid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200998 CHILD syndrome MONDO:0010621 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201000 Epidermolysis bullosa MONDO:0006541 epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201001 Pustular psoriasis MONDO:0022205 pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201002 Xeroderma pigmentosum MONDO:0019600 xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201003 von Recklinghausen's disease MONDO:0018975 neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201003 von Recklinghausen's disease MONDO:0021061 neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201004 Pachydermoperiostosis MONDO:0009799 obsolete pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201004 Pachydermoperiostosis MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201005 Anhidrotic ectodermal dysplasia MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201006 Stevens-Johnson syndrome MONDO:0018229 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201007 Toxic epidermal necrolysis MONDO:0019810 toxic epidermal necrolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201008 Thoracic insufficiency syndrome MONDO:0015929 thoracic malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201009 Achondroplasia MONDO:0007037 Achondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201010 Hypochondroplasia MONDO:0007793 hypochondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201011 Osteogenesis imperfecta MONDO:0019019 osteogenesis imperfecta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201012 Hypophosphatasia MONDO:0018570 hypophosphatasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201013 Osteopetrosis MONDO:0017198 osteopetrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201014 Multiple cartilaginous exostosis MONDO:0005508 hereditary multiple osteochondromas MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201015 Enchondromatosis MONDO:0005508 hereditary multiple osteochondromas MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201015 Enchondromatosis MONDO:0008145 Ollier disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201016 Type II collagenopathy MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201016 Type II collagenopathy MONDO:0016068 fibrochondrogenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201016 Type II collagenopathy MONDO:0022800 type 2 collagenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201017 Chondrodysplasia punctata MONDO:0019701 chondrodysplasia punctata MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201018 Pseudoachondroplasia MONDO:0008322 pseudoachondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201019 Larsen syndrome MONDO:0007875 Larsen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201020 Fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201020 Fibrodysplasia ossificans progressiva MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders MONDO:0018240 TRPV4-related bone disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201022 Osteosclerotic diseases MONDO:0002933 osteosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201023 Pycnodysostosis MONDO:0009940 pycnodysostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201024 Osteopoikilosis MONDO:0001414 osteopoikilosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201026 Beals syndrome MONDO:0007363 congenital contractural arachnodactyly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201027 Blue rubber bleb nevus syndrome MONDO:0007203 blue rubber bleb nevus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201030 Klippel-Trenaunay-Weber syndrome MONDO:0007864 angioosteohypertrophic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201031 Primary lymphedema MONDO:0019175 primary lymphedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201032 Lymphangioma MONDO:0002013 lymphangioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201033 Lymphangiomatosis MONDO:0015408 diffuse lymphatic malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201034 Hereditary hemorrhagic telangiectasia MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201035 Kasabach-Merritt syndrome MONDO:0007708 Kasabach-Merritt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201038 Bilateral retinoblastoma MONDO:0003075 bilateral retinoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201040 Bronchomalacia MONDO:0008888 Williams-Campbell syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201042 Hypertrophic obstructive cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201046 Idiopathic pulmonary arterial hypertension MONDO:0017147 idiopathic pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201047 Familial pulmonary arterial hypertension MONDO:0017148 heritable pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201048 Secondary pulmonary arterial hypertension MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201050 Familial central diabetes insipidus MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201052 Multiple endocrine neoplasia type 2A MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201053 Multiple endocrine neoplasia type 2B MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201054 Medullary thyroid carcinoma MONDO:0015277 medullary thyroid gland carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201055 Systemic juvenile idiopathic arthritis MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201056 Oligoarticular juvenile idiopathic arthritis MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis MONDO:0043152 negative rheumatoid factor polyarthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201059 Psoriatic juvenile idiopathic arthritis MONDO:0011849 psoriatic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis MONDO:0019607 unspecified juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome MONDO:0011776 CINCA syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201067 Muckle-Wells syndrome MONDO:0008633 Muckle-Wells syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201068 familial cold autoinflammatory syndrome MONDO:0018768 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201069 Maturity-onset diabetes of the young type 1 MONDO:0007452 maturity-onset diabetes of the young type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201070 Maturity-onset diabetes of the young type 2 MONDO:0007453 maturity-onset diabetes of the young type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201071 Maturity-onset diabetes of the young type 3 MONDO:0010894 maturity-onset diabetes of the young type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201072 Maturity-onset diabetes of the young type 4 MONDO:0011667 maturity-onset diabetes of the young type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201073 Maturity-onset diabetes of the young type 5 MONDO:0007669 renal cysts and diabetes syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201075 Phenylalanine hydroxylase deficiency MONDO:0009861 phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201076 BH4 deficiency MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201077 BH4-responsive hyperphenylalaninemia MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201078 Classic form maple syrup urine disease MONDO:0017051 classic maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201079 Intermediate maple syrup urine disease MONDO:0017052 intermediate maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201080 Intermittent maple syrup urine disease MONDO:0017053 intermittent maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201081 Thiamine-responsive maple syrup urine disease MONDO:0017054 thiamine-responsive maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency MONDO:0016600 acute neonatal citrullinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201095 Late-onset argininosuccinate synthetase deficiency MONDO:0016601 adult-onset citrullinemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201105 Methylmalonic acidemia cblA type MONDO:0009613 methylmalonic aciduria, cblA type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201106 Methylmalonic acidemia cblB type MONDO:0009614 methylmalonic aciduria, cblB type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201108 Methylmalonic acidemia CblD type MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201109 Methylcobalamin deficiency cblE type MONDO:0009354 methylcobalamin deficiency type cblE MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201111 Methylcobalamin deficiency cblG type MONDO:0009609 methylcobalamin deficiency type cblG MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201111 Methylcobalamin deficiency cblG type MONDO:0021915 arakawa syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201147 Presymptomatic trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201151 Glycogen storage disease type 0a MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201152 Glycogen storage disease type 0b MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201153 Glycogen storage disease type 1a MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201154 Glycogen storage disease type 1b MONDO:0009288 glycogen storage disease Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201159 Glycogen storage disease type IV, hepatic form MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201163 Glycogen storage disease type IV, adult form MONDO:0009897 adult polyglucosan body disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201164 Glycogen storage disease type IXa MONDO:0010598 glycogen storage disease IXa1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201165 Glycogen storage disease type IXb MONDO:0009868 glycogen storage disease IXb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201166 Glycogen storage disease type IXc MONDO:0013091 glycogen storage disease IXc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201167 Glycogen storage disease type IXd MONDO:0010362 glycogen storage disease IXd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201168 Hurler Disease MONDO:0001586 mucopolysaccharidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201168 Hurler Disease MONDO:0011758 Hurler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201169 Scheie disease MONDO:0011760 Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201170 Hurler-Scheie disease MONDO:0011759 Hurler-Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201171 Mucopolysaccharidosis type II, attenuated form MONDO:0016316 mucopolysaccharidosis type 2, attenuated form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201172 Mucopolysaccharidosis type II, intermediate form MONDO:0016316 mucopolysaccharidosis type 2, attenuated form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201173 Mucopolysaccharidosis type II, severe form MONDO:0016315 mucopolysaccharidosis type 2, severe form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201174 Mucopolysaccharidosis type III A MONDO:0009655 mucopolysaccharidosis type 3A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201175 Mucopolysaccharidosis type III B MONDO:0009656 mucopolysaccharidosis type 3B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201176 Mucopolysaccharidosis type III C MONDO:0009657 mucopolysaccharidosis type 3C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201177 Mucopolysaccharidosis type III D MONDO:0009658 mucopolysaccharidosis type 3D MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201178 Mucopolysaccharidosis type IV A MONDO:0009659 mucopolysaccharidosis type 4A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201179 Mucopolysaccharidosis type IV B MONDO:0009660 mucopolysaccharidosis type 4B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201188 Alpha-mannosidosis, infantile form MONDO:0017732 alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201188 Alpha-mannosidosis, infantile form MONDO:0022424 alpha-mannosidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201189 Alpha-mannosidosis, adult form MONDO:0017733 alpha-mannosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201190 Beta-mannosidosis MONDO:0009562 beta-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201191 Sialidosis type 1 MONDO:0019346 sialidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201192 Sialidosis type 2 MONDO:0009738 sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201193 Galactosialidosis, early infantile form MONDO:0009738 sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201196 GM1 gangliosidosis, infantile form MONDO:0009260 GM1 gangliosidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201197 GM1 gangliosidosis, juvenile form MONDO:0009261 GM1 gangliosidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201198 GM1 gangliosidosis, adult form MONDO:0009262 GM1 gangliosidosis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201199 Tay-Sachs disease MONDO:0010100 Tay-Sachs disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201200 Sandhoff disease MONDO:0010006 Sandhoff disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201201 GM2 gangliosidosis AB variant MONDO:0010099 Tay-Sachs disease AB variant MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201202 Metachromatic leukodystrophy, late infantile form MONDO:0017729 metachromatic leukodystrophy, late infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201203 Metachromatic leukodystrophy, juvenile form MONDO:0009591 metachromatic leukodystrophy, juvenile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201204 Metachromatic leukodystrophy, adult form MONDO:0017730 metachromatic leukodystrophy, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201205 Saposin B deficiency MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201206 Niemann-Pick disease type A MONDO:0009756 Niemann-Pick disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201207 Niemann-Pick disease type B MONDO:0011871 Niemann-Pick disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201209 Adult-onset Niemann-Pick disease type C MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201210 Gaucher disease type 1 MONDO:0009265 Gaucher disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201211 Gaucher disease type 2 MONDO:0009266 Gaucher disease type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201212 Gaucher disease type 3 MONDO:0009267 Gaucher disease type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201216 Infantile Krabbe disease MONDO:0016089 infantile Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201219 Adult Krabbe disease MONDO:0016091 adult Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201229 Classic infantile Pompe disease MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201232 Wolman disease MONDO:0019148 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201233 Cholesterol ester storage disease MONDO:0019149 cholesteryl ester storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201234 Nephropathic cystinosis MONDO:0018467 nephropathic infantile cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201234 Nephropathic cystinosis MONDO:0100151 nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201235 Intermediate cystinosis MONDO:0009066 juvenile nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201236 Non-nephropathic cystinosis MONDO:0009064 ocular cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201237 Infantile free sialic acid storage disease MONDO:0010027 free sialic acid storage disease, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201238 Intermediate severe Salla disease MONDO:0017737 intermediate severe Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201240 Congenital neuronal ceroid lipofuscinosis MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201244 Adult neuronal ceroid lipofuscinosis MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201246 Childhood cerebral adrenoleukodystrophy MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201248 Adrenomyeloneuropathy MONDO:0015339 adrenomyeloneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201255 Homozygous familial hypercholesterolemia MONDO:0018328 homozygous familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201256 Ehlers-Danlos syndrome, classical type MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201258 Ehlers-Danlos syndrome, vascular type MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201263 Acute intermittent porphyria MONDO:0008294 acute intermittent porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201264 Hereditary coproporphyria MONDO:0007369 hereditary coproporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201265 Variegate porphyria MONDO:0008297 variegate porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201266 Erythropoietic protoporphyria MONDO:0001676 erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201266 Erythropoietic protoporphyria MONDO:0008319 protoporphyria, erythropoietic, 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201267 Porphyria cutanea tarda MONDO:0015104 porphyria cutanea tarda MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201268 Congenital erythropoietic porphyria MONDO:0009902 cutaneous porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201269 X-linked dominant protoporphyria MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201270 Hepatoerythropoietic porphyria MONDO:0019799 hepatoerythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201273 α-thalassemia MONDO:0011399 alpha thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201274 β-thalassemia MONDO:0019402 beta thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201275 Congenital aplastic anemia MONDO:0001713 inherited aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201276 Idiopathic aplastic anemia MONDO:0012197 idiopathic aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201277 Secondary aplastic anemia MONDO:0015610 acquired aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201279 gp91phox-deficient chronic granulomatous disease MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201280 p22phox-deficient chronic granulomatous disease MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201281 p47phox-deficient chronic granulomatous disease MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201282 p67phox-deficient chronic granulomatous disease MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201283 p40phox-deficient chronic granulomatous disease MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201287 Altman type IV sacrococcygeal teratoma MONDO:0042727 sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201288 Pelizaeus-Merzbacher disease MONDO:0010714 Pelizaeus-Merzbacher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201289 Pelizaeus-Merzbacher like disease MONDO:0017226 Pelizaeus-Merzbacher-like disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:0012905 hypomyelinating leukodystrophy 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201291 18q-syndrome MONDO:0011147 chromosome 18q deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201292 Allan-Herndon-Dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201293 Mitochondrial Hsp60 chaperonopathy MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201294 Salla disease MONDO:0011449 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201296 Hypomyelination and congenital cataract MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease MONDO:0012198 PCWH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201299 AGAT deficiency MONDO:0012996 AGAT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201300 GAMT deficiency MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201301 SLC6A8 deficiency MONDO:0010305 creatine transporter deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201302 Non-syndromic sagittal craniosynostosis MONDO:0018112 isolated scaphocephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201305 Non-syndromic metopic craniosynostosis MONDO:0018065 isolated trigonocephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201317 Anti-NMDA receptor encephalitis MONDO:0021081 anti-NMDA receptor encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201319 Relapsing-remitting multiple sclerosis MONDO:0005314 relapsing-remitting multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201320 Primary progressive multiple sclerosis MONDO:0000451 primary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201321 Secondary progressive multiple sclerosis MONDO:0000450 secondary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201322 Neuromyelitis optica MONDO:0019100 neuromyelitis optica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201341 Epidermolysis bullosa simplex MONDO:0017610 epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201342 Junctional epidermolysis bullosa MONDO:0017612 junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201343 Dystrophic epidermolysis bullosa MONDO:0017608 obsolete dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201345 Achondrogenesis type 2 MONDO:0008702 achondrogenesis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201345 Achondrogenesis type 2 MONDO:0008703 acromesomelic dysplasia 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201346 Hypochondrogenesis MONDO:0008703 acromesomelic dysplasia 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201346 Hypochondrogenesis MONDO:0019669 hypochondrogenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201347 Platyspondylic dysplasia, Torrance type MONDO:0007895 platyspondylic dysplasia, Torrance type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201348 Spondyloepiphyseal dysplasia congenita MONDO:0008471 spondyloepiphyseal dysplasia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201350 Kniest dysplasia MONDO:0007987 Kniest dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201351 Spondyloperipheral dysplasia MONDO:0010078 spondyloperipheral dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening MONDO:0012206 Czech dysplasia, metatarsal type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201354 Stickler syndrome type 1 MONDO:0007160 Stickler syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201358 CHILD syndrome MONDO:0010621 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201360 Brachytelephalangic chondrodysplasia punctata MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201361 Greenberg dysplasia MONDO:0008974 Greenberg dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201362 Astley-Kendall dysplasia MONDO:0019408 Astley-Kendall dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201364 Melorheostosis MONDO:0007970 melorheostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201365 Dysosteosclerosis MONDO:0009138 dysosteosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201366 Craniometaphyseal dysplasia MONDO:0015465 craniometaphyseal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201367 Metaphyseal dysplasias MONDO:0009943 Pyle disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201368 Craniodiaphyseal dysplasia MONDO:0009031 craniodiaphyseal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201369 Sclerosteosis MONDO:0017838 sclerosteosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex MONDO:0017610 epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201378 Herlitz junctional epidermolysis bullosa MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -NANDO:2201385 Galloway-Mowat syndrome MONDO:0009627 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000050 isolated congenital growth hormone deficiency NANDO:2200317 Congenital growth hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000087 polymicrogyria NANDO:1201071 Polymicrogyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000088 precocious puberty NANDO:2100135 Precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:1200334 ICF syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:2200708 ICF syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000147 polyposis NANDO:2100257 Polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000153 transposition of the great arteries NANDO:2200258 Complete transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000188 GLUT1 deficiency syndrome NANDO:1200799 Glucose transporter 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000190 ventricular fibrillation NANDO:2100052 Ventricular fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000190 ventricular fibrillation NANDO:2200227 Ventricular fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000351 disorder of methionine catabolism NANDO:2200475 Hypermethioninemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:1200215 Ullrich disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:2200862 Ullrich congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000390 vitelliform macular dystrophy NANDO:1200932 Vitelliform macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000437 cerebellar ataxia NANDO:1200037 Spinocerebellar degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000437 cerebellar ataxia NANDO:2100238 Spinocerebellar degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000437 cerebellar ataxia NANDO:2200882 Spinocerebellar degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000450 secondary progressive multiple sclerosis NANDO:1200026 Secondary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000450 secondary progressive multiple sclerosis NANDO:2201321 Secondary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000451 primary progressive multiple sclerosis NANDO:1200025 Primary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000451 primary progressive multiple sclerosis NANDO:2201320 Primary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000455 cone dystrophy NANDO:1200936 Cone dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:1201032 Cerebral creatine deficiency syndromes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2100226 Cerebral creatine deficiency syndromes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2200842 Cerebral creatine deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000468 third-degree atrioventricular block NANDO:2200214 Complete atrio-ventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000521 salivary gland carcinoma NANDO:2200076 Salivary grand carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2100014 Familial juvenile hyperuricemic nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2200139 Familial juvenile hyperuricemic nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000721 xanthinuria NANDO:2200588 Xanthinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000811 anomalous left coronary artery from the pulmonary artery NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000839 obsolete congenital abnormality NANDO:1200957 Congenital anomalies syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia NANDO:2200002 Mature B-cell lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000875 adult acute monocytic leukemia NANDO:2200008 Acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000875 adult acute monocytic leukemia NANDO:2200009 Acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000903 myoclonus-dystonia syndrome NANDO:1200522 Dystonia 11 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000940 trypanosomiasis NANDO:2200774 Trypanosomiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000984 thalassemia NANDO:2200626 Thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0000995 familial periodic paralysis NANDO:1200502 Hereditary periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001083 Fanconi renotubular syndrome NANDO:2100027 Fanconi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001083 Fanconi renotubular syndrome NANDO:2200187 Fanconi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001085 interstitial nephritis NANDO:2200136 Tubulointerstitial nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001105 renal hypertension NANDO:2100016 Renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001105 renal hypertension NANDO:2200141 Renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001110 chronic pyelonephritis NANDO:2100012 Chronic pyelonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001110 chronic pyelonephritis NANDO:2200137 Chronic pyelonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001115 familial polycythemia NANDO:2100187 Familial polycythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001115 familial polycythemia NANDO:2200644 Familial polycythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001220 hypoparathyroidism NANDO:1200775 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001220 hypoparathyroidism NANDO:2100124 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001220 hypoparathyroidism NANDO:2200345 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001243 disseminated intravascular coagulation NANDO:2200639 Disseminated intravascular coagulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001261 Mobitz type II atrioventricular block NANDO:2100044 Mobitz type II second degree atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001261 Mobitz type II atrioventricular block NANDO:2200213 Mobitz type II second degree atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001298 congenital mitral valve insufficiency NANDO:2200303 Mitral regurgitation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001324 obsolete hyperandrogenism NANDO:2200380 Hyperandrogenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001328 thyroid hormone resistance syndrome NANDO:1200395 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001328 thyroid hormone resistance syndrome NANDO:2100121 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001328 thyroid hormone resistance syndrome NANDO:2200341 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001336 familial hyperlipidemia NANDO:2200603 Familial combined hyperlipidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001341 selective IgA deficiency disease NANDO:1200347 Selective IgA deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001341 selective IgA deficiency disease NANDO:2200720 Selective IgA deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:1200491 Facioscapulohumeral muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:2200859 Facioscapulohumeral muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001414 osteopoikilosis NANDO:2201024 Osteopoikilosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001422 primary aldosteronism NANDO:2200361 Aldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001437 pulmonary alveolar proteinosis NANDO:1200746 Pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001493 chronic pulmonary heart disease NANDO:2200299 Chronic cor pulmonale MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001516 spinal muscular atrophy NANDO:1200003 Spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001516 spinal muscular atrophy NANDO:2100231 Spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001516 spinal muscular atrophy NANDO:2200853 Spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001558 Potter sequence NANDO:2200157 Potter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2200547 Mucopolysaccharidosis type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2201168 Hurler Disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001645 crescentic glomerulonephritis NANDO:1200714 Rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001645 crescentic glomerulonephritis NANDO:1200723 Crescentic glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001676 erythropoietic protoporphyria NANDO:1200815 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001676 erythropoietic protoporphyria NANDO:2201266 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001700 megaloblastic anemia NANDO:2100176 Megaloblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001700 megaloblastic anemia NANDO:2200612 Megaloblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001705 pure red-cell aplasia NANDO:2100177 Pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001713 inherited aplastic anemia NANDO:1200302 Congenital aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001713 inherited aplastic anemia NANDO:2201275 Congenital aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001734 tuberous sclerosis NANDO:1200607 Tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001734 tuberous sclerosis NANDO:2200826 Tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001741 hyperparathyroidism NANDO:2100123 Hyperparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001741 hyperparathyroidism NANDO:2200343 Hyperparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001790 spinal cord lipoma NANDO:2200815 Spinal lipoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001823 sick sinus syndrome NANDO:2100043 Sick sinus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001823 sick sinus syndrome NANDO:2200212 Sick sinus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001909 renal tubular acidosis NANDO:2100019 Renal tubular acidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001909 renal tubular acidosis NANDO:2200144 Renal tubular acidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001927 pulmonary valve insufficiency NANDO:2200305 Pulmonary valve regurgitation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001946 obsolete hyperestrogenism NANDO:2200379 Hyperestrogenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001969 mixed gonadal dysgenesis NANDO:2200388 Mixed gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0001982 Niemann-Pick disease NANDO:2200561 Niemann-Pick disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002012 methylmalonic acidemia NANDO:1200793 Methylmalonic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002012 methylmalonic acidemia NANDO:2200491 Methylmalonic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002013 lymphangioma NANDO:2201032 Lymphangioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002070 ventricular septal defect NANDO:2100087 Ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002070 ventricular septal defect NANDO:2200270 Ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002108 thyroid cancer NANDO:2200074 Thyroid cancer MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002145 disorder of sexual differentiation NANDO:2100140 Disorders of sex development MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002241 factor XIII deficiency NANDO:2200681 Factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002244 factor VII deficiency NANDO:2200675 Factor VII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002247 factor X deficiency NANDO:2200678 Factor X deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002304 protein S deficiency NANDO:1201081 Protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002304 protein S deficiency NANDO:2100198 Protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002304 protein S deficiency NANDO:2200690 Protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002327 intracranial cavernous angioma NANDO:2200852 Cavernous angioma of the brain and spinal cord MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002412 disorder of glycogen metabolism NANDO:1200838 Hepatic glycogen storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002413 glycogen storage disease I NANDO:1200840 Hepatic glycogen storage disease type Ia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002413 glycogen storage disease I NANDO:1201018 Hepatic glycogen storage disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002413 glycogen storage disease I NANDO:2200538 Glycogen storage disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002429 idiopathic interstitial pneumonia NANDO:1200416 Idiopathic interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002429 idiopathic interstitial pneumonia NANDO:2200199 Idiopathic interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002442 long QT syndrome NANDO:2100053 Long QT syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002442 long QT syndrome NANDO:2200228 Long qt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002461 membranoproliferative glomerulonephritis NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002461 membranoproliferative glomerulonephritis NANDO:2200123 Membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002470 photosensitive trichothiodystrophy NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002473 cystic kidney disease NANDO:2200172 Simple renal cyst MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002474 primary hyperoxaluria NANDO:2200503 Primary hyperoxaluria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002540 childhood oligodendroglioma NANDO:2200089 Oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002543 adult oligodendroglioma NANDO:2200089 Oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002546 schwannoma NANDO:2200103 Neurinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002561 lysosomal storage disease NANDO:1200055 Lysosomal storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002561 lysosomal storage disease NANDO:2100165 Lysosomal storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002568 tracheal stenosis NANDO:2200194 Tracheal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002623 pediatric osteosarcoma NANDO:2200048 Osteosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002637 histiocytosis NANDO:2100005 Histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002676 adult fibrosarcoma NANDO:2200060 Fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002678 pediatric fibrosarcoma NANDO:2200060 Fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002714 central nervous system cancer NANDO:2100007 Central nervous system tumors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002718 central nervous system teratoma NANDO:2200104 Teratoma of the central nervous system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002728 rhabdoid tumor NANDO:2200057 Malignant rhabdoid tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002794 adult medulloblastoma NANDO:2200090 Medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002797 childhood medulloblastoma NANDO:2200090 Medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002807 bronchial neoplasm NANDO:2200081 Bronchial tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002869 heart valve disorder NANDO:2100105 Valvular heart disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002870 tricuspid valve insufficiency NANDO:2200301 Tricuspid valve regurgitation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002921 congenital structural myopathy NANDO:1200482 Centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002921 congenital structural myopathy NANDO:2200867 Myotubular myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002926 clear cell sarcoma NANDO:2200062 Clear cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0002933 osteosclerosis NANDO:2201022 Osteosclerotic diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003002 dysgerminoma NANDO:2200066 Dysgerminoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003057 pediatric meningioma NANDO:2200094 Meningioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003075 bilateral retinoblastoma NANDO:2201038 Bilateral retinoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003136 anti-basement membrane glomerulonephritis NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:1201029 Mesangial proliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:2200122 Mesangial proliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003157 disappearing bone disease NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003157 disappearing bone disease NANDO:1200880 obsolete Gorham disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003330 urinary tract obstruction NANDO:2200178 Obstructive uropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003517 mature teratoma NANDO:2200105 Mature teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003523 gastrin-producing neuroendocrine tumor NANDO:2200395 Gastrinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003585 adult liposarcoma NANDO:2200065 Liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003587 pediatric liposarcoma NANDO:2200065 Liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003659 pediatric lymphoma NANDO:2100004 Lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003660 adult lymphoma NANDO:2100004 Lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003664 hemolytic anemia NANDO:2200636 Hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003689 familial hemolytic anemia NANDO:2100183 Hereditary hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003759 childhood ovarian yolk sac tumor NANDO:2200069 Yolk sac tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003778 inborn error of immunity NANDO:1200320 Primary immunodeficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003778 inborn error of immunity NANDO:2100204 Immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003832 complement deficiency NANDO:1200364 Inherited deficiency of complement system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003832 complement deficiency NANDO:2200776 Inherited deficiency of complement system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003900 connective tissue disorder NANDO:2100172 Connective tissue disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003924 adrenal cortex adenoma NANDO:2200352 Adrenal adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003947 hyper-IgM syndrome NANDO:1200345 Hyper-IgM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003947 hyper-IgM syndrome NANDO:2200718 Hyper-IgM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003964 myositis ossificans NANDO:1200871 Fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0003964 myositis ossificans NANDO:2201020 Fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004000 childhood pilocytic astrocytoma NANDO:2200084 Pilocytic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:1200173 Mitochondrial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:2100163 Mitochondrial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004218 childhood germ cell brain tumor NANDO:2200108 Intracranial germ cell tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004335 digestive system disorder NANDO:1100013 Gastrointestinal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004355 childhood leukemia NANDO:2100002 Leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004425 hyperthyroidism NANDO:2100119 Hyperthyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004425 hyperthyroidism NANDO:2200329 Hyperthyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004471 bacterial arthritis NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004591 impetigo herpetiformis NANDO:1200243 Impetigo herpetiformis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:1200368 Autosomal dominant polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:2200153 Autosomal dominant polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004737 homocystinuria NANDO:1201038 Homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004737 homocystinuria NANDO:2200474 Homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004739 urea cycle disorder NANDO:1200802 Urea cycle disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004782 diabetes insipidus NANDO:2100117 Diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004822 bronchiectasis NANDO:2100036 Bronchiectasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004822 bronchiectasis NANDO:2200206 Bronchiectasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004890 partial central choroid dystrophy NANDO:1200939 Central areolar choroidal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004933 hypoplastic left heart syndrome NANDO:1200705 Hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004933 hypoplastic left heart syndrome NANDO:2100071 Hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004933 hypoplastic left heart syndrome NANDO:2200249 Hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004952 Hodgkins lymphoma NANDO:2200024 Hodgkin lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004955 obsolete metabolic syndrome NANDO:1100002 Metabolic disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004963 T-cell acute lymphoblastic leukemia NANDO:2200003 T-cell lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004974 adrenal gland pheochromocytoma NANDO:2200078 Pheochromocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004976 amyotrophic lateral sclerosis NANDO:1200002 Amyotrophic lateral sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004977 angioimmunoblastic T-cell lymphoma NANDO:2200029 Angioimmunoblastic T-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004978 obsolete aortic stenosis NANDO:2100098 Aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004981 atrial fibrillation NANDO:2100051 Atrial fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004981 atrial fibrillation NANDO:2200226 Atrial fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004995 cardiovascular disorder NANDO:1100005 Cardiovascular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0004997 chondroblastoma NANDO:2200051 Chondroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005006 clear cell sarcoma of kidney NANDO:2200044 Clear cell sarcoma of the kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005011 Crohn disease NANDO:1200444 Crohn's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005011 Crohn disease NANDO:1200446 Colonic Crohn's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005011 Crohn disease NANDO:2200921 Crohn's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005015 diabetes mellitus NANDO:2100157 Diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005015 diabetes mellitus NANDO:2100158 Diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005021 dilated cardiomyopathy NANDO:2100057 Dilated cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005021 dilated cardiomyopathy NANDO:2200232 Dilated cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005029 essential thrombocythemia NANDO:2100194 Essential thrombocythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005029 essential thrombocythemia NANDO:2200655 Essential thrombocythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005035 ganglioneuroblastoma NANDO:2200041 Ganglioneuroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200286 Hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200288 Hypertrophic obstructive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2100054 Hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2200229 Hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2201042 Hypertrophic obstructive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005046 immune system disorder NANDO:1100004 Immune system disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005046 immune system disorder NANDO:2100202 Immune system disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005058 leiomyosarcoma NANDO:2200064 Leiomyosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005059 leukemia NANDO:2100002 Leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005060 liposarcoma NANDO:2200065 Liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005062 lymphoma NANDO:2100004 Lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005066 metabolic disease NANDO:1100002 Metabolic disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005068 myocardial infarction NANDO:2200248 Myocardial infarction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005072 neuroblastoma NANDO:2200040 Neuroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005086 renal cell carcinoma NANDO:2200045 Renal cell carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005087 respiratory system disorder NANDO:1100010 Respiratory disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005093 skin disorder NANDO:2100281 Skin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005100 systemic sclerosis NANDO:1200277 Systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005100 systemic sclerosis NANDO:2200429 Systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005101 ulcerative colitis NANDO:1200449 Ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005101 ulcerative colitis NANDO:2200920 Ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005102 undifferentiated (embryonal) sarcoma NANDO:2200058 Undifferentiated sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005105 melanoma NANDO:2200077 Malignant melanoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005109 HIV infectious disease NANDO:2200810 HIV infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005147 type 1 diabetes mellitus NANDO:2200460 Diabetes mellitus type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005148 type 2 diabetes mellitus NANDO:2200461 Diabetes mellitus type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005151 endocrine system disorder NANDO:1100009 Endocrine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005151 endocrine system disorder NANDO:2100109 Endocrine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005152 hypopituitarism NANDO:1200387 Hypopituitarism syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005152 hypopituitarism NANDO:2100110 Hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005155 cirrhosis of liver NANDO:2100268 Liver cirrhosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005155 cirrhosis of liver NANDO:2200937 Liver cirrhosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005160 aortic aneurysm NANDO:2100101 Aortic aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005160 aortic aneurysm NANDO:2200294 Aortic aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005164 fibrosarcoma NANDO:2200060 Fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005180 Parkinson disease NANDO:1200010 Parkinson's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005181 progressive external ophthalmoplegia NANDO:1200174 Chronic progressive external ophthalmoplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005201 restrictive cardiomyopathy NANDO:1200292 Restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005201 restrictive cardiomyopathy NANDO:1200293 Idiopathic restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005201 restrictive cardiomyopathy NANDO:2100058 Restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005201 restrictive cardiomyopathy NANDO:2200233 Restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005204 primary antiphospholipid syndrome NANDO:1200267 Primary antiphospholipid antibody syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005207 choriocarcinoma NANDO:2200070 Choriocarcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005212 rhabdomyosarcoma NANDO:2200056 Rhabdomyosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005223 acute myeloid leukemia with minimal differentiation NANDO:2200004 Acute myeloid leukemia with minimal differentiation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005224 acute myeloblastic leukemia without maturation NANDO:2200005 Acute myeloid leukemia without maturation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005265 inflammatory bowel disease NANDO:2100259 Inflammatory bowel disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005300 chronic kidney disease NANDO:2100008 Chronic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005300 chronic kidney disease NANDO:2100023 Chronic renal failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005301 multiple sclerosis NANDO:1200023 Multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005301 multiple sclerosis NANDO:2100250 Multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005301 multiple sclerosis NANDO:2200904 Multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005306 ankylosing spondylitis NANDO:1200870 Ankylosing spondylitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005310 atrial flutter NANDO:2100050 Atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005310 atrial flutter NANDO:2200218 Multiple atrial tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005310 atrial flutter NANDO:2200225 Atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:1200024 Relapsing-remitting multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:2201319 Relapsing-remitting multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005342 IgA glomerulonephritis NANDO:1200366 IgA nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005342 IgA glomerulonephritis NANDO:2200121 IgA nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005361 eosinophilic esophagitis NANDO:1200456 Eosinophilic esophagitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:1200722 Focal segmental glomerulosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:2200113 Focal segmental glomerulosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005364 Graves disease NANDO:2200328 Basedow disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005369 carcinoid tumor NANDO:2200396 Carcinoid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005376 membranous glomerulonephritis NANDO:1200721 Membranous nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005376 membranous glomerulonephritis NANDO:2200114 Membranous nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005377 nephrotic syndrome NANDO:2100009 Nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005381 bone disorder NANDO:2100291 Bone disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005381 bone disorder NANDO:2100293 Bone disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005385 vascular disorder NANDO:2100294 Vascular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005387 primary ovarian failure NANDO:2100139 Hypergonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005388 primary biliary cholangitis NANDO:1200439 Primary biliary cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005420 hypothyroidism NANDO:2100120 Hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005429 prion disease NANDO:1200186 Prion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005437 testicular dysgenesis syndrome NANDO:2200383 Testicular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005439 familial hypercholesterolemia NANDO:2200602 Familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005440 embryonal carcinoma NANDO:2200067 Embryonal carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005477 ventricular tachycardia NANDO:2100049 Ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005479 atrial tachycardia NANDO:2200218 Multiple atrial tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005508 hereditary multiple osteochondromas NANDO:2200049 Osteochondromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005508 hereditary multiple osteochondromas NANDO:2201014 Multiple cartilaginous exostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005508 hereditary multiple osteochondromas NANDO:2201015 Enchondromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005532 Crohn's colitis NANDO:1200446 Colonic Crohn's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005533 distal colitis NANDO:1200451 Left-sided colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005534 ileocolitis NANDO:1200447 Crohn ileocolitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005536 pancolitis NANDO:1200450 Pan-ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005539 small bowel Crohn disease NANDO:1200445 small bowel Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005549 renal cell adenocarcinoma NANDO:2200045 Renal cell carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005554 rheumatic disorder NANDO:2100151 Collagen disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005554 rheumatic disorder NANDO:2100152 Collagen disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005556 lupus nephritis NANDO:2200128 Lupus nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005570 hematologic disorder NANDO:1100006 Blood disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005570 hematologic disorder NANDO:2100175 Blood disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005624 atrophic thyroiditis NANDO:2200336 Atrophic thyroiditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005648 aortic valve insufficiency NANDO:2200307 Aortic valve regurgitation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005711 congenital diaphragmatic hernia NANDO:1200911 Congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005711 congenital diaphragmatic hernia NANDO:2100040 Congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005711 congenital diaphragmatic hernia NANDO:2200210 Congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005713 obsolete MONDO:0005713 NANDO:2200890 Congenital rubella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005715 congenital toxoplasmosis NANDO:2200892 Congenital toxoplasmosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005744 yolk sac tumor NANDO:2200069 Yolk sac tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005764 follicular dendritic cell sarcoma NANDO:2200034 Follicular dendritic cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005775 G6PD deficiency NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2100143 Hyperinsulinemic hypoglycemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2200399 Congenital hyperinsulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005804 hyperprolactinemia NANDO:2100115 Hyperprolactinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005804 hyperprolactinemia NANDO:2200322 Hyperprolactinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005810 infectious mononucleosis NANDO:1200668 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005810 infectious mononucleosis NANDO:2200976 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005813 interdigitating dendritic cell sarcoma NANDO:2200035 Interdigitating dendritic cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005827 lipoatrophic diabetes NANDO:2200465 Lipoatrophic diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005852 mitral valve stenosis NANDO:1200963 Congenital mitral stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005852 mitral valve stenosis NANDO:2200302 Mitral valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005854 mixed connective tissue disease NANDO:1200278 Mixed connective tissue disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005854 mixed connective tissue disease NANDO:2200430 Mixed connective tissue disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005965 spinal stenosis NANDO:1200372 Coexisting cervical and lumbar spinal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0005997 tricuspid valve stenosis NANDO:2200300 Tricuspid valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006007 vesicoureteral reflux NANDO:2200179 Vesicoureteral reflux MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006055 sex cord-stromal tumor NANDO:2200072 Sex-cord stromal tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200385 Growth hormone secreting pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006287 malignancy in giant cell tumor of bone NANDO:2200052 Malignancy in giant cell tumour of bone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006373 pituitary gland adenoma NANDO:2200095 Pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy NANDO:2200039 Rosai-Dorfman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006444 teratoma with malignant transformation NANDO:2200107 Teratoma with malignant transformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006451 thymic carcinoma NANDO:2200079 Malignant thymoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006536 congenital generalized lipodystrophy NANDO:1200859 Generalized congenital lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006541 epidermolysis bullosa NANDO:1200234 Epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006541 epidermolysis bullosa NANDO:2100284 Epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006541 epidermolysis bullosa NANDO:2201000 Epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006573 lipodystrophy NANDO:1200858 Lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006573 lipodystrophy NANDO:2100147 Lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006573 lipodystrophy NANDO:2200404 Lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006594 pemphigus NANDO:1200228 Pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006639 adrenal cortex carcinoma NANDO:2200073 Adrenocortical carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006656 aortitis NANDO:1200251 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006656 aortitis NANDO:2200423 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2100130 Apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2200362 Apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006664 atrial septal defect NANDO:2100085 Atrial septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006689 obsolete carcinoid syndrome NANDO:2200396 Carcinoid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006711 constrictive pericarditis NANDO:2100064 Constrictive pericarditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006711 constrictive pericarditis NANDO:2200239 Constrictive pericarditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006715 coronary stenosis NANDO:2200246 Stenosis or atresia of coronary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006779 heart aneurysm NANDO:2200234 Aneurysm of ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006785 obsolete Henoch-Schoenlein purpura NANDO:1200741 Henoch-Schonlein purpura nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006795 hypersplenism NANDO:2200637 Hypersplenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006802 inappropriate ADH syndrome NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006802 inappropriate ADH syndrome NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006802 inappropriate ADH syndrome NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006823 Klinefelter syndrome NANDO:2200386 Klinefelter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006835 lipoid nephrosis NANDO:1200720 Minimal change nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006835 lipoid nephrosis NANDO:2200112 Minimal change nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006935 pulmonary subvalvular stenosis NANDO:2100092 Subvalvular pulmonary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006935 pulmonary subvalvular stenosis NANDO:2200276 Subvalvular pulmonary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006936 pulmonary valve stenosis NANDO:2200304 Pulmonary valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006947 renovascular hypertension NANDO:2100016 Renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006947 renovascular hypertension NANDO:2200141 Renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006987 subvalvular aortic stenosis NANDO:2100093 Subvalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0006987 subvalvular aortic stenosis NANDO:2200277 Subvalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007012 variant Creutzfeldt-Jakob disease NANDO:1200194 Variant Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007029 branchio-oto-renal syndrome NANDO:1200675 Branchio-oto-renal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007032 prune belly syndrome NANDO:2200185 Prune belly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007037 Achondroplasia NANDO:1200877 Achondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007037 Achondroplasia NANDO:2201009 Achondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007039 neurofibromatosis type 2 NANDO:1200227 Neurofibromatosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007041 Apert syndrome NANDO:1200667 Apert syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007041 Apert syndrome NANDO:2200844 Apert syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007042 Saethre-Chotzen syndrome NANDO:2200848 Saethre-Chotzen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007043 Pfeiffer syndrome NANDO:1200668 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007043 Pfeiffer syndrome NANDO:2200976 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:1200323 Adenosine deaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:2200696 Adenosine deaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007078 Pseudohypoparathyroidism type 1A NANDO:1201075 Pseudohypoparathyroidism type 1A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007097 Finnish type amyloidosis NANDO:1201063 Familial amyloid polyneuropathy type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007099 familial visceral amyloidosis NANDO:2200138 Amyloid nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007100 familial amyloid neuropathy NANDO:1200214 Familial amyloid polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007100 familial amyloid neuropathy NANDO:1201060 Familial amyloid polyneuropathy type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007109 congenital dyserythropoietic anemia type 3 NANDO:1200888 Congenital dyserythropoietic anemia type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007113 Angelman syndrome NANDO:1200686 Angelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007113 Angelman syndrome NANDO:2200960 Angelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007130 congenital total pulmonary venous return anomaly NANDO:2200271 Total anomalous pulmonary venous connection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007140 obsolete antiphospholipid syndrome NANDO:1200271 Antiphospholipid antibody-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007140 obsolete antiphospholipid syndrome NANDO:2200421 Anti-phospholipid antibody syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007154 arteriovenous malformations of the brain NANDO:2100229 Cerebral arteriovenous malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007154 arteriovenous malformations of the brain NANDO:2200851 Cerebral arteriovenous malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007160 Stickler syndrome type 1 NANDO:2201354 Stickler syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007182 Machado-Joseph disease NANDO:1200041 Spinocerebellar ataxia type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007187 nevoid basal cell carcinoma syndrome NANDO:2200828 Gorlin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007191 Behcet disease NANDO:1200284 Behcet's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007191 Behcet disease NANDO:2200422 Behcet's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007203 blue rubber bleb nevus NANDO:2201027 Blue rubber bleb nevus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007256 hepatocellular carcinoma NANDO:2200047 Hepatocellular carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007294 central core myopathy NANDO:1200479 Central core disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007294 central core myopathy NANDO:2200870 Central core disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007296 spinocerebellar ataxia type 31 NANDO:1200044 Spinocerebellar ataxia type 31 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007315 cherubism NANDO:2200444 Cherubism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007318 Alagille syndrome NANDO:1200918 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007318 Alagille syndrome NANDO:1200919 Typical Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007318 Alagille syndrome NANDO:2200931 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 NANDO:1200519 Dystonia 8 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007345 aorta coarctation NANDO:2200283 Coarctation of the aorta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007345 aorta coarctation NANDO:2200284 Coarctation complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007361 C1 inhibitor deficiency NANDO:1200365 Hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007361 C1 inhibitor deficiency NANDO:2200795 Hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007363 congenital contractural arachnodactyly NANDO:2201026 Beals syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007369 hereditary coproporphyria NANDO:1200813 Hereditary coproporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007369 hereditary coproporphyria NANDO:2201264 Hereditary coproporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007403 inherited Creutzfeldt-Jakob disease NANDO:1200189 Familial Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007404 Cri-du-chat syndrome NANDO:1200684 5p deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007404 Cri-du-chat syndrome NANDO:2200961 5p- syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007405 Crouzon syndrome NANDO:1200666 Crouzon's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007405 Crouzon syndrome NANDO:2200845 Crouzon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007414 Gorham-Stout disease NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007414 Gorham-Stout disease NANDO:1200880 obsolete Gorham disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007435 dentatorubral-pallidoluysian atrophy NANDO:1200043 Dentatorubropallidoluysian atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007450 neurohypophyseal diabetes insipidus NANDO:2201050 Familial central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2200461 Diabetes mellitus type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2201069 Maturity-onset diabetes of the young type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007453 maturity-onset diabetes of the young type 2 NANDO:2201070 Maturity-onset diabetes of the young type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:1200512 Dystonia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2100240 Dystonia musculorum deformans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2200884 Dystonia musculorum deformans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007493 torsion dystonia 4 NANDO:1200515 Dystonia 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 NANDO:1200521 Dystonia 10 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007495 dystonia 5 NANDO:1200516 Dystonia 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007496 dystonia 12 NANDO:1200523 Dystonia 12 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007496 dystonia 12 NANDO:1200524 Rapid-onset dystonia-parkinsonism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:1200646 Ehlers-Danlos syndrome, classical type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:2201256 Ehlers-Danlos syndrome, classical type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007534 Beckwith-Wiedemann syndrome NANDO:2200959 Beckwith-Wiedemann syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007540 multiple endocrine neoplasia type 1 NANDO:2200405 Multiple endocrine neoplasia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007542 Camurati-Engelmann disease NANDO:2200970 Camurati-Engelmann disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:1200871 Fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:2201020 Fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007669 renal cysts and diabetes syndrome NANDO:2201073 Maturity-onset diabetes of the young type 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007671 fibronectin glomerulopathy NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007699 Hashimoto thyroiditis NANDO:2200335 Hashimoto disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007708 Kasabach-Merritt syndrome NANDO:2100297 Kasabach-Merritt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007708 Kasabach-Merritt syndrome NANDO:2201035 Kasabach-Merritt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007727 autosomal dominant familial periodic fever NANDO:1200472 TNF receptor-associated periodic fever syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007727 autosomal dominant familial periodic fever NANDO:2200433 TNF receptor-associated periodic fever syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007739 Huntington disease NANDO:1200012 Huntington's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007741 congenital hydronephrosis NANDO:2200176 Ureteropelvic junction obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007750 hypercholesterolemia, familial, 1 NANDO:2200602 Familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007793 hypochondroplasia NANDO:2201010 Hypochondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia NANDO:1200382 Idiopathic hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007803 multiple system atrophy NANDO:1200034 Multiple system atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007813 superficial epidermolytic ichthyosis NANDO:1200613 Superficial epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007813 superficial epidermolytic ichthyosis NANDO:2200990 Superficial epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007827 inclusion body myositis NANDO:1200032 Sporadic inclusion body myositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007827 inclusion body myositis NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007864 angioosteohypertrophic syndrome NANDO:1200884 Klippel-Trenaunay-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007864 angioosteohypertrophic syndrome NANDO:2201030 Klippel-Trenaunay-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007875 Larsen syndrome NANDO:2201019 Larsen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007879 larynx atresia NANDO:2200190 Laryngeal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007895 platyspondylic dysplasia, Torrance type NANDO:2201347 Platyspondylic dysplasia, Torrance type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007896 acute monocytic leukemia NANDO:2200008 Acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007896 acute monocytic leukemia NANDO:2200009 Acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007915 systemic lupus erythematosus NANDO:1200272 Systemic lupus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007915 systemic lupus erythematosus NANDO:2200416 Systemic lupus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007947 Marfan syndrome NANDO:1200644 Marfan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007947 Marfan syndrome NANDO:2200968 Marfan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:1200893 Epstein syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2100193 May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200127 Epstein syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200654 May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007959 medulloblastoma NANDO:2200090 Medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007970 melorheostosis NANDO:2201364 Melorheostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0007987 Kniest dysplasia NANDO:2201350 Kniest dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008006 Mobius syndrome NANDO:1200559 Moebius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008006 Mobius syndrome NANDO:2200980 Moebius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008029 Bethlem myopathy NANDO:1200220 Bethlem Myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008039 tropical spastic paraparesis NANDO:1200206 HTLV-1-associated myelopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008054 juvenile dermatomyositis NANDO:2200418 Juvenile dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008061 nail-patella syndrome NANDO:1200967 Nail-patella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008061 nail-patella syndrome NANDO:2200132 Nail-patella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008082 multiple endocrine neoplasia type 2B NANDO:2201053 Multiple endocrine neoplasia type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008090 cyclic hematopoiesis NANDO:1200354 Cyclic neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008090 cyclic hematopoiesis NANDO:2200746 Cyclic neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008116 oculopharyngeal muscular dystrophy NANDO:1200493 Oculopharyngeal muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008119 spinocerebellar ataxia type 1 NANDO:1200045 Spinocerebellar ataxia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008120 obsolete spinocerebellar ataxia type 7 NANDO:1200047 Spinocerebellar ataxia type 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008145 Ollier disease NANDO:2200049 Osteochondromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008145 Ollier disease NANDO:2201015 Enchondromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008185 hereditary chronic pancreatitis NANDO:1200921 Hereditary pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008185 hereditary chronic pancreatitis NANDO:2200942 Hereditary pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008195 paramyotonia congenita of Von Eulenburg NANDO:1200501 Paramyotonia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008201 Perry syndrome NANDO:1200547 Perry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008218 Hailey-Hailey disease NANDO:1200631 Benign familial pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008219 pemphigus vulgaris NANDO:1200229 Pemphigus vulgaris MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008221 prolidase deficiency NANDO:2200472 Prolidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008222 Andersen-Tawil syndrome NANDO:1200827 Glycogen storage diseases type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008223 hypokalemic periodic paralysis NANDO:1200503 Hereditary hypokalemic periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008224 hyperkalemic periodic paralysis NANDO:1200504 Hereditary hyperkalemic periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2200406 Multiple endocrine neoplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2201052 Multiple endocrine neoplasia type 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008260 Kindler syndrome NANDO:1200239 Kindler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008280 Peutz-Jeghers syndrome NANDO:2200917 Peutz-Jeghers syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008283 Cronkhite-Canada syndrome NANDO:1200901 Cronkhite-Canada syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008294 acute intermittent porphyria NANDO:1200812 Acute intermittent porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008294 acute intermittent porphyria NANDO:2201263 Acute intermittent porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008297 variegate porphyria NANDO:1200814 Variegate porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008297 variegate porphyria NANDO:2201265 Variegate porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008300 Prader-Willi syndrome NANDO:1200678 Prader-Willi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008300 Prader-Willi syndrome NANDO:2200411 Prader-Willi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:1201007 Hutchinson-Gilford syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:2200833 Hutchinson-Gilford syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:1200815 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:2201266 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008322 pseudoachondroplasia NANDO:2201018 Pseudoachondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008323 Liddle syndrome NANDO:2100131 Liddle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008323 Liddle syndrome NANDO:2200363 Liddle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008332 platelet-type von Willebrand disease NANDO:2200668 Platelet-type von Willebrand disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:1200708 Pulmonary atresia with ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:2200252 Pulmonary atresia with ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008345 obsolete idiopathic pulmonary fibrosis NANDO:1200417 Idiopathic pulmonary fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008346 pulmonary hemosiderosis NANDO:1200751 Alveolar hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008346 pulmonary hemosiderosis NANDO:2100037 Idiopathic pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008346 pulmonary hemosiderosis NANDO:2200207 Idiopathic pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008367 red cell phospholipid defect with hemolysis NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008380 retinoblastoma NANDO:2200042 Retinoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008428 septooptic dysplasia NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008428 septooptic dysplasia NANDO:1200561 Septo-optic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008428 septooptic dysplasia NANDO:2200820 Septo-optic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008434 Smith-Magenis syndrome NANDO:1200687 Smith-Magenis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008434 Smith-Magenis syndrome NANDO:2200954 Smith-Magenis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008457 spinocerebellar ataxia type 6 NANDO:1200042 Spinocerebellar ataxia type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008458 spinocerebellar ataxia type 2 NANDO:1200046 Spinocerebellar ataxia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008471 spondyloepiphyseal dysplasia congenita NANDO:2201348 Spondyloepiphyseal dysplasia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008487 polycystic ovary syndrome NANDO:2100149 Polycystic ovary syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008487 polycystic ovary syndrome NANDO:2200409 Polycystic ovary syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008501 Sturge-Weber syndrome NANDO:1200606 Sturge-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008501 Sturge-Weber syndrome NANDO:2200830 Sturge-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008503 Worster-Drought syndrome NANDO:1200558 Congenital suprabulbar paresis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008504 supravalvular aortic stenosis NANDO:2200285 Supravalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008523 Blau syndrome NANDO:1200476 Blau syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008523 Blau syndrome NANDO:2200434 Blau syndrome, early onset sarcoidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008538 temporal arteritis NANDO:1200258 Giant cell arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008538 temporal arteritis NANDO:1200259 Cranial giant cell arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008538 temporal arteritis NANDO:1200260 Large-vessel giant cell arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008542 tetralogy of fallot NANDO:1200709 Tetralogy of Fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008542 tetralogy of fallot NANDO:2100075 Tetralogy of Fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008542 tetralogy of fallot NANDO:2200254 Tetralogy of Fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008546 thanatophoric dysplasia type 1 NANDO:1200875 Thanatophoric dysplasia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008547 thanatophoric dysplasia type 2 NANDO:1200876 Thanatophoric dysplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008555 thrombocytopenia 2 NANDO:2200663 Autosomal dominant thrombocytopenia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008556 thrombocytopenia, cyclic NANDO:2100192 Cyclic thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008556 thrombocytopenia, cyclic NANDO:2200653 Cyclic thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:1200315 Idiopathic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:2200645 Immune thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008564 DiGeorge syndrome NANDO:1200339 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008564 DiGeorge syndrome NANDO:1200688 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008564 DiGeorge syndrome NANDO:2200712 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008608 Down syndrome NANDO:2200965 Down syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008628 ureterocele NANDO:2200183 Ureteroceles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008633 Muckle-Wells syndrome NANDO:1200467 Muckle-Wells syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008633 Muckle-Wells syndrome NANDO:2201067 Muckle-Wells syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008642 VACTERL/vater association NANDO:1200657 VATER syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008642 VACTERL/vater association NANDO:2200983 VATER syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008644 velocardiofacial syndrome NANDO:1200339 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008644 velocardiofacial syndrome NANDO:1200688 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008644 velocardiofacial syndrome NANDO:2200712 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008667 von Hippel-Lindau disease NANDO:2200408 Von Hippel-Lindau disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008667 von Hippel-Lindau disease NANDO:2200829 von Hippel-Lindau disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008674 obsolete WHIM syndrome NANDO:2200767 WHIM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008678 Williams syndrome NANDO:1200664 Williams syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008678 Williams syndrome NANDO:2200286 Williams syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008682 Denys-Drash syndrome NANDO:2200116 Denys-Drash syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:1200683 4p deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:2200962 4p- Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008685 Wolff-Parkinson-White syndrome NANDO:2200217 Supraventricular tachycardia due to WPW syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008692 abetalipoproteinemia NANDO:1200857 Abetalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008692 abetalipoproteinemia NANDO:2200604 Abetalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008695 chorea-acanthocytosis NANDO:1200014 Chorea-acanthocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008702 achondrogenesis type II NANDO:2201345 Achondrogenesis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201345 Achondrogenesis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201346 Hypochondrogenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008713 acrodermatitis enteropathica NANDO:2200584 Acrodermatitis enteropathica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:1200399 21-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:2200374 21-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:1200400 11-β-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:2200372 11-β-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:1200401 17-α-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:2200373 17 alpha-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008737 congenital afibrinogenemia NANDO:2200672 Afibrinogenemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008738 aganglionosis, total intestinal NANDO:1200460 Congenital isolated hypoganglionosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008738 aganglionosis, total intestinal NANDO:2200948 Congenital Isolated Hypoganglionosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008749 pseudohypoparathyroidism type 2 NANDO:1201078 Pseudohypoparathyroidism type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008752 Alexander disease NANDO:1200554 Alexander disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008752 Alexander disease NANDO:2200835 Alexander disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008753 alkaptonuria NANDO:2200504 Alkaptonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008760 beta-ketothiolase deficiency NANDO:1200987 Beta-ketothiolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008760 beta-ketothiolase deficiency NANDO:2200493 Beta-ketothiolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008777 gelatinous drop-like corneal dystrophy NANDO:1201006 Gelatinous drop-like corneal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008783 Tangier disease NANDO:1200854 Tangier disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008803 Antley-Bixler syndrome NANDO:1200669 Antley-Bixler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008803 Antley-Bixler syndrome NANDO:2200975 Antley-Bixler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008814 hyperargininemia NANDO:1200807 Argininemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008814 hyperargininemia NANDO:2200482 Hyperargininemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008815 argininosuccinic aciduria NANDO:1200806 Argininosuccinic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008815 argininosuccinic aciduria NANDO:2200481 Argininosuccinic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008830 aspartylglucosaminuria NANDO:1200133 Aspartylglucosaminuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008830 aspartylglucosaminuria NANDO:2200555 Aspartylglucosaminuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008840 ataxia telangiectasia NANDO:1200331 Ataxia telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008840 ataxia telangiectasia NANDO:2200705 Ataxia telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia NANDO:1200051 Ataxia-oculomotor apraxia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008846 atransferrinemia NANDO:2100180 Congenital atransferrinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008846 atransferrinemia NANDO:2200617 Congenital atransferrinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:1200753 Congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2100032 Congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2200198 Congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008855 MHC class II deficiency NANDO:1200329 MHC class II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008855 MHC class II deficiency NANDO:2200702 MHC class II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008863 sitosterolemia NANDO:1200853 Sitosterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008867 biliary atresia NANDO:1200913 Biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008867 biliary atresia NANDO:2200930 biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008876 Bloom syndrome NANDO:1200333 Bloom syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008876 Bloom syndrome NANDO:2200707 Bloom syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008888 Williams-Campbell syndrome NANDO:2201040 Bronchomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008889 thromboangiitis obliterans NANDO:1200266 Buerger's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency NANDO:2200773 CARD9 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:1200972 Carnitine-acylcarnitine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:2200511 Carnitine-acylcarnitine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008919 systemic primary carnitine deficiency disease NANDO:1200973 Systemic primary carnitine deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008919 systemic primary carnitine deficiency disease NANDO:2200508 Organic cation transporter 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008947 bilateral striopallidodentate calcinosis NANDO:1200207 Idiopathic basal ganglia calcification MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008948 cerebrotendinous xanthomatosis NANDO:1200856 Cerebrotendinous xanthomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:1200151 Congenital neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:2201240 Congenital neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008963 Chediak-Higashi syndrome NANDO:1200350 Chédiak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008963 Chediak-Higashi syndrome NANDO:1200639 Chédiak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008963 Chediak-Higashi syndrome NANDO:2200724 Chédiak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008965 CHARGE syndrome NANDO:1200464 CHARGE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008965 CHARGE syndrome NANDO:2200972 CHARGE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008974 Greenberg dysplasia NANDO:2201361 Greenberg dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008977 chondrosarcoma NANDO:2200050 Chondrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008978 chordoma NANDO:2200098 Chordoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008982 central areolar choroidal dystrophy NANDO:1200939 Central areolar choroidal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008988 citrullinemia type I NANDO:1200805 Classic citrullinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008988 citrullinemia type I NANDO:2200480 Argininosuccinate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008996 obsolete COACH syndrome 1 NANDO:1201050 COACH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0008999 Cohen syndrome NANDO:2200750 Cohen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009006 complement component 2 deficiency NANDO:2200781 C2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009010 aortic arch interruption NANDO:2200288 Interruption of aortic arch complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009025 apparent mineralocorticoid excess NANDO:2100130 Apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009025 apparent mineralocorticoid excess NANDO:2200362 Apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009026 Costello syndrome NANDO:1200463 Costello syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009026 Costello syndrome NANDO:2200971 Costello syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009031 craniodiaphyseal dysplasia NANDO:2201368 Craniodiaphyseal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009039 Baller-Gerold syndrome NANDO:1201059 Baller-Gerold syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009044 Crigler-Najjar syndrome NANDO:2100272 Crigler-Najjar syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009044 Crigler-Najjar syndrome NANDO:2200941 Crigler-Najjar syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:1200379 Cushing disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:2200350 Cushing disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009061 cystic fibrosis NANDO:1200922 Cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009061 cystic fibrosis NANDO:1201021 Cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009061 cystic fibrosis NANDO:2100035 Cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009061 cystic fibrosis NANDO:2200205 Cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009064 ocular cystinosis NANDO:1200164 Non-nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009064 ocular cystinosis NANDO:2201236 Non-nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009066 juvenile nephropathic cystinosis NANDO:1200163 Intermediate cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009066 juvenile nephropathic cystinosis NANDO:2201235 Intermediate cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009067 cystinuria NANDO:2200489 Cystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009072 Dandy-Walker syndrome NANDO:2200821 Dandy-Walker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly NANDO:1200658 Nasu-Hakola disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009109 lysinuric protein intolerance NANDO:1200809 Lysinuric protein intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009109 lysinuric protein intolerance NANDO:2200488 Lysinuric protein intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009114 congenital sucrase-isomaltase deficiency NANDO:2200908 Congenital sucrase-isomaltase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009116 obsolete lactose intolerance NANDO:2200907 Lactose intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009123 orthostatic hypotension 1 NANDO:2200597 Dopamine beta hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009134 congenital dyserythropoietic anemia type 2 NANDO:1200887 Congenital dyserythropoietic anemia type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009138 dysosteosclerosis NANDO:2201365 Dysosteosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009141 torsion dystonia 2 NANDO:1200513 Dystonia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009144 Ebstein anomaly NANDO:1200711 Ebstein's anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009144 Ebstein anomaly NANDO:2100080 Ebstein's anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009144 Ebstein anomaly NANDO:2200260 Ebstein's anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009169 endocardial fibroelastosis NANDO:2100060 Endocardial fibroelastosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009169 endocardial fibroelastosis NANDO:2200235 Endocardial fibroelastosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency NANDO:2200910 Enterokinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009176 epidermodysplasia verruciformis NANDO:2200768 Epidermodysplasia verruciformis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:1200238 Recessive dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:1201065 Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2200119 Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2201378 Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009194 immunodeficiency 32B NANDO:2200808 Chronic active EB virus infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009218 Farber lipogranulomatosis NANDO:1200086 Farber disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009218 Farber lipogranulomatosis NANDO:2200565 Farber disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009234 congenital high-molecular-weight kininogen deficiency NANDO:2200685 High molecular weight kininogen deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009238 hereditary folate malabsorption NANDO:1200810 Hereditary folate malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009238 hereditary folate malabsorption NANDO:2200592 Hereditary folate malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009249 hereditary fructose intolerance NANDO:2200531 Hereditary fructose intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009251 fructose-1,6-bisphosphatase deficiency NANDO:2200535 Fructose-1,6-bisphosphatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009254 fucosidosis NANDO:1200130 Fucosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009254 fucosidosis NANDO:2200553 Fucosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009255 galactokinase deficiency NANDO:2200533 Galactokinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009257 galactose epimerase deficiency NANDO:2200534 UDP-galactose-4-epimerase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009258 classic galactosemia NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009258 classic galactosemia NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009260 GM1 gangliosidosis type 1 NANDO:1200067 Infantile GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009260 GM1 gangliosidosis type 1 NANDO:2201196 GM1 gangliosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009261 GM1 gangliosidosis type 2 NANDO:1200068 Juvenile GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009261 GM1 gangliosidosis type 2 NANDO:2201197 GM1 gangliosidosis, juvenile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009262 GM1 gangliosidosis type 3 NANDO:1200069 Adult GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009262 GM1 gangliosidosis type 3 NANDO:2201198 GM1 gangliosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009265 Gaucher disease type I NANDO:1200057 Gaucher disease type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009265 Gaucher disease type I NANDO:2201210 Gaucher disease type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009266 Gaucher disease type II NANDO:1200058 Gaucher disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009266 Gaucher disease type II NANDO:2201211 Gaucher disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009267 Gaucher disease type III NANDO:1200059 Gaucher disease type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009267 Gaucher disease type III NANDO:2201212 Gaucher disease type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009276 Bernard-Soulier syndrome NANDO:2200656 Bernard-Soulier syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009279 triple-A syndrome NANDO:1200410 Allgrove syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:1200800 Glutaric acidemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:2200501 Glutaric acidemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:1200801 Glutaric acidemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:2200502 Glutaric acidemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA NANDO:2201153 Glycogen storage disease type 1a MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009288 glycogen storage disease Ib NANDO:1200841 Hepatic glycogen storage disease type Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009288 glycogen storage disease Ib NANDO:2200754 Glycogen storage disease type 1b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009288 glycogen storage disease Ib NANDO:2201154 Glycogen storage disease type 1b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009290 glycogen storage disease II NANDO:1200138 Pompe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009290 glycogen storage disease II NANDO:1200825 Glycogen storage diseases type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009290 glycogen storage disease II NANDO:2200569 Pompe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009291 glycogen storage disease III NANDO:1200826 Glycogen storage diseases type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009291 glycogen storage disease III NANDO:1200844 Hepatic GSD type IIIc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009291 glycogen storage disease III NANDO:1201019 Hepatic glycogen storage disease type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009291 glycogen storage disease III NANDO:2200539 Glycogen storage disease type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200827 Glycogen storage diseases type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200850 Hepatic glycogen storage disease type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:2200540 Glycogen storage disease type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009293 glycogen storage disease V NANDO:1200828 Glycogen storage diseases type V MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009293 glycogen storage disease V NANDO:2200541 Glycogen storage disease type V MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009294 glycogen storage disease VI NANDO:1200846 Hepatic glycogen storage disease type VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009294 glycogen storage disease VI NANDO:2200542 Glycogen storage disease type VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009295 glycogen storage disease VII NANDO:1200823 Muscle glycogen storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009295 glycogen storage disease VII NANDO:1200829 Glycogen storage diseases type VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009295 glycogen storage disease VII NANDO:2200543 Glycogen storage disease type VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009299 46 XX gonadal dysgenesis NANDO:2200384 Ovarian dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200718 Goodpasture syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009303 anti-glomerular basement membrane disease NANDO:2200125 Goodpasture syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NANDO:2201280 p22phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 NANDO:2201281 p47phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NANDO:2201282 p67phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009315 congenital factor XII deficiency NANDO:2200680 Factor XII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009318 Hallermann-Streiff syndrome NANDO:2200973 Hallermann-Streiff syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:2200886 Pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009324 Hartnup disease NANDO:2200487 Hartnup disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009326 congenital heart block NANDO:2200214 Complete atrio-ventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009341 Mowat-Wilson syndrome NANDO:1200663 Mowat-Wilson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009341 Mowat-Wilson syndrome NANDO:2200981 Mowat-Wilson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009352 classic homocystinuria NANDO:1201039 Homocystinuria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency NANDO:1201041 Homocystinuria type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009354 methylcobalamin deficiency type cblE NANDO:2201109 Methylcobalamin deficiency cblE type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:1200803 Carbamoyl phosphate synthetase I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:2200478 Carbamoylphosphate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:1200808 NAGS deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2200477 N-acetylglutamate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009393 ornithine translocase deficiency NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009410 obsolete Addison disease NANDO:1200411 Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009410 obsolete Addison disease NANDO:1200412 Autoimmune Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009410 obsolete Addison disease NANDO:2200359 Other chronic adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009410 obsolete Addison disease NANDO:2200360 Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200346 Autoimmune polyendocrinopathy type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200824 Glycogen storage diseases type 0 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200838 Hepatic glycogen storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2200537 Glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2201151 Glycogen storage disease type 0a MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:1200614 Harlequin ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:2200992 Harlequin ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:1200337 Schimke syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:2200711 Schimke syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009475 isovaleric acidemia NANDO:1200798 Isovaleric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009475 isovaleric acidemia NANDO:2200494 Isovaleric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009480 Joubert syndrome with oculorenal defect NANDO:1200662 Arima syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009499 Krabbe disease NANDO:1200074 Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009499 Krabbe disease NANDO:2200564 Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009509 Landau-Kleffner syndrome NANDO:1200602 Landau-Kleffner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009515 Norum disease NANDO:1200852 Lecithin cholesterol acyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2200497 3-hydroxy-3-methylglutaric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009530 lipoid proteinosis NANDO:2200608 Lipoid proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009532 Miller-Dieker lissencephaly syndrome NANDO:1201083 Miller Dieker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009537 lymphoid interstitial pneumonia NANDO:1200424 Lymphoid interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009561 alpha-mannosidosis NANDO:1200126 Alpha-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009562 beta-mannosidosis NANDO:1200129 Beta-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009562 beta-mannosidosis NANDO:2201190 Beta-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009563 maple syrup urine disease NANDO:1200791 Maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009563 maple syrup urine disease NANDO:2200473 Maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009567 Marinesco-Sjogren syndrome NANDO:1200485 Marinesco-Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009572 autosomal recessive familial Mediterranean fever NANDO:1200864 Typical familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009578 neurocutaneous melanocytosis NANDO:2200827 Neurocutaneous melanosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:1200082 Saposin B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:2201205 Saposin B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:1200080 Juvenile ｍetachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:2201203 Metachromatic leukodystrophy, juvenile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009609 methylcobalamin deficiency type cblG NANDO:2201111 Methylcobalamin deficiency cblG type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009610 3-methylglutaconic aciduria type 1 NANDO:1200990 3-methylglutaconic aciduria type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009613 methylmalonic aciduria, cblA type NANDO:1200795 Methylmalonic acidemia cblA type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009613 methylmalonic aciduria, cblA type NANDO:2201105 Methylmalonic acidemia cblA type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009614 methylmalonic aciduria, cblB type NANDO:1200796 Methylmalonic acidemia cblB type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009614 methylmalonic aciduria, cblB type NANDO:2201106 Methylmalonic acidemia cblB type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009623 Nijmegen breakage syndrome NANDO:1200332 Nijmegen breakage syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009623 Nijmegen breakage syndrome NANDO:2200706 Nijmegen breakage syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009627 Galloway-Mowat syndrome NANDO:1200713 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009627 Galloway-Mowat syndrome NANDO:2200120 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009627 Galloway-Mowat syndrome NANDO:2201385 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009635 microvillus inclusion disease NANDO:2100255 Microvillus inclusion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009635 microvillus inclusion disease NANDO:2200913 Microvillus inclusion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009641 obsolete mitochondrial complex II deficiency NANDO:1200181 Mitochondrial complex II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009650 mucolipidosis type II NANDO:1200124 Mucolipidosis II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009650 mucolipidosis type II NANDO:2200567 Mucolipidosis II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009655 mucopolysaccharidosis type 3A NANDO:1200101 Sanfilippo disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009655 mucopolysaccharidosis type 3A NANDO:2201174 Mucopolysaccharidosis type III A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009656 mucopolysaccharidosis type 3B NANDO:1200102 Sanfilippo disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009656 mucopolysaccharidosis type 3B NANDO:2201175 Mucopolysaccharidosis type III B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009657 mucopolysaccharidosis type 3C NANDO:1200103 Sanfilippo disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009657 mucopolysaccharidosis type 3C NANDO:2201176 Mucopolysaccharidosis type III C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009658 mucopolysaccharidosis type 3D NANDO:1200104 Sanfilippo disease type D MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009658 mucopolysaccharidosis type 3D NANDO:2201177 Mucopolysaccharidosis type III D MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009659 mucopolysaccharidosis type 4A NANDO:1200106 Morquio syndrome type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009659 mucopolysaccharidosis type 4A NANDO:2201178 Mucopolysaccharidosis type IV A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009660 mucopolysaccharidosis type 4B NANDO:1200107 Morquio syndrome type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009660 mucopolysaccharidosis type 4B NANDO:2201179 Mucopolysaccharidosis type IV B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200108 Maroteaux-Lamy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:2200551 Mucopolysaccharidosis type VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009662 mucopolysaccharidosis type 7 NANDO:1200111 Sly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009662 mucopolysaccharidosis type 7 NANDO:2200552 Mucopolysaccharidosis type VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009665 biotinidase deficiency NANDO:1200822 Biotinidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009666 holocarboxylase synthetase deficiency NANDO:1200821 Holocarboxylase synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009669 spinal muscular atrophy, type 1 NANDO:1200004 Spinal muscular atrophy type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009672 spinal muscular atrophy, type III NANDO:1200006 Spinal muscular atrophy type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009673 spinal muscular atrophy, type II NANDO:1200005 Spinal muscular atrophy type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:1200494 Fukuyama type congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:2200860 Fukuyama type congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009681 Ullrich congenital muscular dystrophy 1 NANDO:1200215 Ullrich disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009685 Miyoshi myopathy NANDO:1200217 Miyoshi myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009688 myasthenia gravis NANDO:1200020 Myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009688 myasthenia gravis NANDO:2100252 Myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009688 myasthenia gravis NANDO:2200906 Myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009689 congenital myasthenic syndrome 6 NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009694 myeloperoxidase deficiency NANDO:1200358 Myeloperoxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009694 myeloperoxidase deficiency NANDO:2200758 Myeloperoxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009697 Lafora disease NANDO:1200955 Lafora disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009697 Lafora disease NANDO:2200881 Lafora disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009698 Unverricht-Lundborg syndrome NANDO:1200954 Unverricht-Lundborg disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009698 Unverricht-Lundborg syndrome NANDO:2200880 Unverricht-Lundborg disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:1200970 Carnitine palmitoyltransferase I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:2200509 Carnitine palmitoyltransferase I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009710 Thomsen and Becker disease NANDO:1200497 Myotonia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009710 Thomsen and Becker disease NANDO:1200498 Thomsen disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:1200483 Congenital fiber-type disproportion myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:2200868 Congenital fiber-type disproportion myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia NANDO:2200872 Minicore myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009715 myotonia congenita, autosomal recessive NANDO:1200499 Becker disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009717 Schwartz-Jampel syndrome NANDO:1200224 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009717 Schwartz-Jampel syndrome NANDO:2100235 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009717 Schwartz-Jampel syndrome NANDO:2200876 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009723 Leigh syndrome NANDO:1200175 Leigh's encephalomyelopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009723 Leigh syndrome NANDO:2200527 Leigh syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:1200867 Nakajo-Nishimura syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:2200435 Nakajo-Nishimura syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009728 nephronophthisis 1 NANDO:1201036 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009728 nephronophthisis 1 NANDO:2200140 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009732 congenital nephrotic syndrome, Finnish type NANDO:2200110 Congenital nephrotic syndrome of the Finnish type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009735 Netherton syndrome NANDO:1200338 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009735 Netherton syndrome NANDO:1200619 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009735 Netherton syndrome NANDO:2200993 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009737 galactosialidosis NANDO:1200119 Galactosialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009737 galactosialidosis NANDO:2200557 Galactosialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009738 sialidosis type 2 NANDO:1200118 Sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009738 sialidosis type 2 NANDO:1200120 Galactosialidosis, early infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009738 sialidosis type 2 NANDO:2201192 Sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009738 sialidosis type 2 NANDO:2201193 Galactosialidosis, early infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009739 obsolete infantile neuroaxonal dystrophy NANDO:2200887 Infantile neuroaxonal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:1200152 Infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:2201241 Infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:1200553 Congenital insensitivity to pain with anhidrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:2200854 Congenital insensitivity to pain with anhidrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009756 Niemann-Pick disease type A NANDO:1200061 Niemann-Pick disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009756 Niemann-Pick disease type A NANDO:2201206 Niemann-Pick disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009763 obesity-hypoventilation syndrome NANDO:1200752 Obesity hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009774 cloacal exstrophy NANDO:1200909 Cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009774 cloacal exstrophy NANDO:1200910 Persistent cloaca MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009774 cloacal exstrophy NANDO:2200950 Persistent cloaca MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009774 cloacal exstrophy NANDO:2200951 Cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009787 3-methylglutaconic aciduria type 3 NANDO:1200992 3-methylglutaconic aciduria type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200484 Hyperornithinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200486 Gyrate atrophy of choroid and retina MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009797 orotic aciduria NANDO:2200590 Orotic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009799 obsolete pachydermoperiostosis NANDO:1200642 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009799 obsolete pachydermoperiostosis NANDO:2100288 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009799 obsolete pachydermoperiostosis NANDO:2201004 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009807 osteosarcoma NANDO:2200048 Osteosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:1200869 Chronic recurrent multifocal osteomyelitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:2200438 Chronic recurrent multifocal osteomyelitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009823 primary hyperoxaluria type 1 NANDO:1200773 Primary hyperoxaluria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009833 Shwachman-Diamond syndrome NANDO:1200356 Shwachman-Diamond syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009833 Shwachman-Diamond syndrome NANDO:2200756 Shwachman-Diamond syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200195 Subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200196 Typical subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200198 Subacute progressive sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009835 subacute sclerosing panencephalitis NANDO:2100245 Subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009835 subacute sclerosing panencephalitis NANDO:2200899 Subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009837 choroid plexus papilloma NANDO:2200093 Choroid plexus papilloma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:1200866 Hyper IgD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:2200436 Hyper IgD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009855 d-bifunctional protein deficiency NANDO:1200766 D-bifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009861 phenylketonuria NANDO:1200784 Phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009861 phenylketonuria NANDO:1200785 Phenylalanine hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009861 phenylketonuria NANDO:2200467 Phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009861 phenylketonuria NANDO:2201075 Phenylalanine hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency NANDO:1200832 Glycogen storage diseases type X MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009868 glycogen storage disease IXb NANDO:1200848 Hepatic glycogen storage disease type IXb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009868 glycogen storage disease IXb NANDO:2201165 Glycogen storage disease type IXb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009883 alpha-2-plasmin inhibitor deficiency NANDO:2200687 Alpha-2-plasmin inhibitor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009885 Scott syndrome NANDO:2200671 Scott syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009887 desquamative interstitial pneumonia NANDO:1200422 Desquamative interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009887 desquamative interstitial pneumonia NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:1200369 Autosomal recessive polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:2200154 Autosomal recessive polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009891 acquired polycythemia vera NANDO:2100186 Polycythemia vera MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009891 acquired polycythemia vera NANDO:2200643 Polycythemia vera MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009897 adult polyglucosan body disease NANDO:2201163 Glycogen storage disease type IV, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009902 cutaneous porphyria NANDO:1200817 Congenital erythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009902 cutaneous porphyria NANDO:2201268 Congenital erythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009904 Gitelman syndrome NANDO:2100020 Gitelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009904 Gitelman syndrome NANDO:2200145 Gitelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency NANDO:2200389 5 alpha-reductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009924 vitamin D-dependent rickets, type 1 NANDO:1200782 Vitamin D-dependent rickets, type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009928 pulmonary alveolar microlithiasis NANDO:2200202 Pulmonary alveolar microlithiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009930 obsolete pulmonary arteriovenous malformation NANDO:2200295 Pulmonary arteriovenous fistulae MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:1200707 Pulmonary atresia with intact ventricular septum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:2200253 Pulmonary atresia with intact ventricular septum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009937 pulmonary venoocclusive disease NANDO:1200427 Pulmonary veno-occlusive disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009940 pycnodysostosis NANDO:2201023 Pycnodysostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009943 Pyle disease NANDO:2201367 Metaphyseal dysplasias MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009948 pyropoikilocytosis, hereditary NANDO:2200631 Hereditary pyropoikilocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009949 pyruvate carboxylase deficiency disease NANDO:2200519 Pyruvate carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009950 pyruvate kinase deficiency of red cells NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009955 rapadilino syndrome NANDO:1201058 RAPADILINO syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009958 adult Refsum disease NANDO:1200769 Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009958 adult Refsum disease NANDO:2200577 Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009973 reticular dysgenesis NANDO:1200322 Reticular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0009973 reticular dysgenesis NANDO:2200695 Reticular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010002 Rothmund-Thomson syndrome NANDO:1200671 Rothmund-Thomson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010006 Sandhoff disease NANDO:1200072 Sandhoff disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010006 Sandhoff disease NANDO:2201200 Sandhoff disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010011 schizencephaly NANDO:1201073 Schizencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010011 schizencephaly NANDO:2200818 Schizencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010012 autoimmune polyendocrinopathy type 2 NANDO:2200347 Autoimmune polyendocrinopathy type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:1200327 Zap-70 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:2200700 ZAP-70 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010027 free sialic acid storage disease, infantile form NANDO:1200147 Infantile free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010027 free sialic acid storage disease, infantile form NANDO:2201237 Infantile free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010030 Sjogren syndrome NANDO:1200279 Sjogren's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010030 Sjogren syndrome NANDO:1200280 Primary Sjogren's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010030 Sjogren syndrome NANDO:2200420 Sjogren's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010031 Sjogren-Larsson syndrome NANDO:1200620 Sjögren-Larsson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010031 Sjogren-Larsson syndrome NANDO:2200994 Sjögren-Larsson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:1200961 Smith-lemli-opitz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:2200979 Smith-Lemli-Opitz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010038 growth delay due to insulin-like growth factor I resistance NANDO:2200320 IGF1 insensitivity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010056 spinal muscular atrophy, type IV NANDO:1200007 Spinal muscular atrophy type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010066 familial isolated congenital asplenia NANDO:2200775 Isolated congenital asplenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010078 spondyloperipheral dysplasia NANDO:2201351 Spondyloperipheral dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010079 Canavan disease NANDO:1200948 Canavan disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010079 Canavan disease NANDO:2200834 Canavan disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010088 mucosulfatidosis NANDO:1200083 Multiple sulfatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010088 mucosulfatidosis NANDO:1200624 Multiple sulfatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010088 mucosulfatidosis NANDO:2200566 Multiple sulfatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010089 isolated sulfite oxidase deficiency NANDO:2200583 Sulfite oxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010099 Tay-Sachs disease AB variant NANDO:1200073 GM2 gangliosidosis AB variant MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010099 Tay-Sachs disease AB variant NANDO:2201201 GM2 gangliosidosis AB variant MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010100 Tay-Sachs disease NANDO:1200071 Tay-Sachs disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010100 Tay-Sachs disease NANDO:2201199 Tay-Sachs disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200657 Thrombasthenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200664 ITGA2B/ITGB3 mutations MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010121 thrombocytopenia-absent radius syndrome NANDO:2200661 Thrombocytopenia with absent radii MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010122 congenital thrombotic thrombocytopenic purpura NANDO:1200317 Congenital thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:1200395 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2100121 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2200341 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010155 Dorfman-Chanarin disease NANDO:1200622 Dorfman-Chanarin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010155 Dorfman-Chanarin disease NANDO:1200623 Neutral lipid storage disease with ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010155 Dorfman-Chanarin disease NANDO:2200997 Dorfman-Chanarin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010160 tyrosinemia type II NANDO:1200789 Tyrosinemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010160 tyrosinemia type II NANDO:2200469 Tyrosinemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010161 tyrosinemia type I NANDO:1200788 Tyrosinemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010161 tyrosinemia type I NANDO:2200468 Tyrosinemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010162 tyrosinemia type III NANDO:1200790 Tyrosinemia type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010162 tyrosinemia type III NANDO:2200470 Tyrosinemia type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010168 Usher syndrome type 1 NANDO:1200942 Usher syndrome type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:1201040 Homocystinuria type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:1200797 Methylmalonic acidemia CblD type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:2201108 Methylmalonic acidemia CblD type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010188 familial isolated deficiency of vitamin E NANDO:1200050 Ataxia with isolated vitamin E deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010193 Weaver syndrome NANDO:1200659 Weaver syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010193 Weaver syndrome NANDO:2200957 Weaver syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010196 Werner syndrome NANDO:1200676 Werner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010196 Werner syndrome NANDO:2200831 Werner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010200 Wilson disease NANDO:1200655 Wilson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010200 Wilson disease NANDO:2200579 Wilson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010226 46,XY sex reversal 2 NANDO:1200404 DAX1 abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010246 developmental and epileptic encephalopathy, 9 NANDO:1200599 PCDH19-related syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:1200166 Childhood cerebral adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:2201246 Childhood cerebral adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:1200403 Congenital adrenal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:2200357 Congenital adrenal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010281 Danon disease NANDO:1200145 Danon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010281 Danon disease NANDO:1200222 Danon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010283 syndromic X-linked intellectual disability Lubs type NANDO:2200984 MECP2 duplication syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010294 X-linked severe congenital neutropenia NANDO:2200753 X linked severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010298 Lesch-Nyhan syndrome NANDO:2200586 Lesch-Nyhan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010305 creatine transporter deficiency NANDO:1201035 Creatine transporter deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010305 creatine transporter deficiency NANDO:2201301 SLC6A8 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010311 Becker muscular dystrophy NANDO:1200489 Becker muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010311 Becker muscular dystrophy NANDO:2200865 Becker muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:1200321 X-linked severe combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:2200694 X-linked severe combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:1200580 Allan-Herndon-Dudley syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:2201292 Allan-Herndon-Dudley syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010362 glycogen storage disease IXd NANDO:1200830 Glycogen storage diseases type IXd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010362 glycogen storage disease IXd NANDO:2201167 Glycogen storage disease type IXd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200690 Fragile X syndrome related diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200691 Fragile X tremor/ataxia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010383 fragile X syndrome NANDO:1200692 Fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010383 fragile X syndrome NANDO:2100224 Fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010383 fragile X syndrome NANDO:2200840 Fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency NANDO:2201279 gp91phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency NANDO:1200831 Phosphoglycerate kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:1200818 X-linked dominant protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:2201269 X-linked dominant protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010421 Bruton-type agammaglobulinemia NANDO:1200343 X-linked agammaglobulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010421 Bruton-type agammaglobulinemia NANDO:2200716 X-linked agammaglobulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010434 synovial sarcoma NANDO:2200061 Synovial sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010518 Wiskott-Aldrich syndrome NANDO:1200330 Wiskott-Aldrich syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010518 Wiskott-Aldrich syndrome NANDO:2200704 Wiskott-Aldrich syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:1200665 ATR-X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2100223 ATR-X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2200839 ATR-X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010526 Fabry disease NANDO:1200157 Fabry disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010526 Fabry disease NANDO:2200563 Fabry disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010543 Barth syndrome NANDO:1200991 3-methylglutaconicaciduria type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010543 Barth syndrome NANDO:2200751 Barth syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201360 Brachytelephalangic chondrodysplasia punctata MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010561 Coffin-Lowry syndrome NANDO:1200660 Coffin-Lowry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010561 Coffin-Lowry syndrome NANDO:2200952 Coffin-Lowry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010568 Aicardi syndrome NANDO:1200562 Aicardi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010572 occipital horn syndrome NANDO:1200654 Occipital horn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010572 occipital horn syndrome NANDO:2200581 Occipital horn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome NANDO:2200924 IPEX syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010598 glycogen storage disease IXa1 NANDO:1200847 Hepatic glycogen storage disease type IXa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010598 glycogen storage disease IXa1 NANDO:2201164 Glycogen storage disease type IXa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010602 hemophilia A NANDO:2200676 Hemophilia A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010604 hemophilia B NANDO:2200677 Hemophilia B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010613 inborn glycerol kinase deficiency NANDO:2200505 Glycerol kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010619 X-linked dominant hypophosphatemic rickets NANDO:1200779 Vitamin D-resistant rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010621 CHILD syndrome NANDO:1200629 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010621 CHILD syndrome NANDO:2200998 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010621 CHILD syndrome NANDO:2201358 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010622 recessive X-linked ichthyosis NANDO:1200625 Recessive X-linked ichtyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:1200351 X-linked lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:2200725 X-linked lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010631 incontinentia pigmenti NANDO:2200974 Incontinentia pigmenti MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010645 oculocerebrorenal syndrome NANDO:2100028 Lowe syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010645 oculocerebrorenal syndrome NANDO:2200188 Lowe syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010651 Menkes disease NANDO:1200653 Menkes disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010651 Menkes disease NANDO:2200580 Menkes disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010674 mucopolysaccharidosis type 2 NANDO:1200097 Hunter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010674 mucopolysaccharidosis type 2 NANDO:2200548 Mucopolysaccharidosis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010679 Duchenne muscular dystrophy NANDO:1200488 Duchenne muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010679 Duchenne muscular dystrophy NANDO:2200856 Duchenne muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010684 X-linked myopathy with excessive autophagy NANDO:1200223 X-linked Myopathy with excessive autophagy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:1200804 Ornithine transcarbamylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:2200479 Ornithine transcarbamylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010713 properdin deficiency, X-linked NANDO:2200789 Properdin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:1200576 Pelizaeus-Merzbacher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:2201288 Pelizaeus-Merzbacher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010725 X-linked retinoschisis NANDO:1200938 X-linked juvenile retinoschisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010726 Rett syndrome NANDO:1200603 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010726 Rett syndrome NANDO:1200604 Typical Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010726 Rett syndrome NANDO:2100219 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010726 Rett syndrome NANDO:2200825 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010731 Simpson-Golabi-Behmel syndrome NANDO:2200978 Simpson-Golabi-Behmel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010735 Kennedy disease NANDO:1200001 Spinal and bulbar muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010747 X-linked dystonia-parkinsonism NANDO:1200514 Dystonia 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010778 cyclic vomiting syndrome NANDO:2100258 Cyclic vomiting syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010778 cyclic vomiting syndrome NANDO:2200919 Cyclic vomiting syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010787 Kearns-Sayre syndrome NANDO:1201064 Kearns-Sayre syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010787 Kearns-Sayre syndrome NANDO:2200529 Kearns-Sayre syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200178 Leber hereditary optic neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200940 Leber hereditary optic neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010789 MELAS syndrome NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010789 MELAS syndrome NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010790 MERRF syndrome NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010790 MERRF syndrome NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010808 fatal familial insomnia NANDO:1200191 Fatal familial insomnia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010829 CARASIL syndrome NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010857 semantic dementia NANDO:1200550 Semantic dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010894 maturity-onset diabetes of the young type 3 NANDO:2201071 Maturity-onset diabetes of the young type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010911 prolactin-producing pituitary gland adenoma NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010913 Caroli disease NANDO:2200934 Caroli disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010931 vitamin D-dependent rickets, type 2B NANDO:1200779 Vitamin D-resistant rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010940 inherited susceptibility to asthma NANDO:2100031 Bronchial asthma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010940 inherited susceptibility to asthma NANDO:2200197 Bronchial asthma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010947 Budd-Chiari syndrome NANDO:1200437 Budd-Chiari syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0010983 dystonia 9 NANDO:1200520 Dystonia 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011014 pleuropulmonary blastoma NANDO:2200080 Pleuropulmonaryblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011093 mucopolysaccharidosis type 9 NANDO:1200115 Hyaluronidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011147 chromosome 18q deletion syndrome NANDO:1200579 18q-syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011147 chromosome 18q deletion syndrome NANDO:2201291 18q-syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011200 torsion dystonia 7 NANDO:1200518 Dystonia 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine NANDO:1200371 Ossification of posterior longitudinal ligament MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome NANDO:2200823 Megalencephaly-capillary malformation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011264 torsion dystonia 6 NANDO:1200517 Dystonia 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011269 psoriasis 2 NANDO:2200443 CARD14 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011273 H syndrome NANDO:2200457 SLC29A3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011281 congenital myasthenic syndrome 5 NANDO:1201056 End-plate acetylcholine esterase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011301 pseudohypoparathyroidism type 1B NANDO:1201076 Pseudohypoparathyroidism type 1B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011326 citrullinemia, type II, adult-onset NANDO:1200980 Adult-onset type II citrullinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 NANDO:2200730 Syntaxin 11 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 NANDO:2200728 Perforin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011338 Omenn syndrome NANDO:1200324 Omenn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011338 Omenn syndrome NANDO:2200697 Omenn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011340 congenital tracheal stenosis NANDO:1201003 Congenital tracheal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:1200681 Young-Simpson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:2200982 Young-Simpson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:1200951 Vanishing white matter disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:2200838 Vanishing white matter disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011382 sickle cell anemia NANDO:2200624 Sickle cell disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011399 alpha thalassemia NANDO:2201273 α-thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011405 poikiloderma with neutropenia NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011426 aceruloplasminemia NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011426 aceruloplasminemia NANDO:2200582 Aceruloplasminemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011429 juvenile idiopathic arthritis NANDO:1200469 Juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011429 juvenile idiopathic arthritis NANDO:2200415 Juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011449 Salla disease NANDO:1200149 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011449 Salla disease NANDO:1200582 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011449 Salla disease NANDO:2201294 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011469 congenital amegakaryocytic thrombocytopenia NANDO:2200651 Congenital amegakaryocytic thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011476 MHC class I deficiency NANDO:1200328 MHC class I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011476 MHC class I deficiency NANDO:2200701 MHC class I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011514 tricuspid atresia NANDO:1200706 Tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011514 tricuspid atresia NANDO:1200962 Congenital tricuspid stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011514 tricuspid atresia NANDO:2100073 Tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011514 tricuspid atresia NANDO:2200251 Tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011603 GNE myopathy NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011612 glycine encephalopathy NANDO:1200984 Nonketotic hyperglycinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011612 glycine encephalopathy NANDO:2200476 Nonketotic hyperglycinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011628 propionic acidemia NANDO:1200792 Propionic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011628 propionic acidemia NANDO:2200492 Propionic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011638 neuroferritinopathy NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011638 neuroferritinopathy NANDO:1200542 Neuroferritinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011655 alveolar soft part sarcoma NANDO:2200063 Alveolar soft part sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011664 immunodeficiency due to CD25 deficiency NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011667 maturity-onset diabetes of the young type 4 NANDO:2201072 Maturity-onset diabetes of the young type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011705 lymphangioleiomyomatosis NANDO:1200430 Lymphangioleiomyomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:1200799 Glucose transporter 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:2200545 Glucose transporter 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011730 fumaric aciduria NANDO:2200520 Fumarase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011731 glucose-galactose malabsorption NANDO:2200909 Glucose-galactose malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011758 Hurler syndrome NANDO:1200094 Hurler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011758 Hurler syndrome NANDO:2201168 Hurler Disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011759 Hurler-Scheie syndrome NANDO:1200096 Hurler-Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011759 Hurler-Scheie syndrome NANDO:2201170 Hurler-Scheie disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011760 Scheie syndrome NANDO:1200095 Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011760 Scheie syndrome NANDO:2201169 Scheie disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011776 CINCA syndrome NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011776 CINCA syndrome NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B NANDO:2200740 Caspase-8 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011826 glucocorticoid deficiency 2 NANDO:1200409 MRAP deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011827 patent ductus arteriosus NANDO:2100084 Patent ductus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011827 patent ductus arteriosus NANDO:2200264 Patent ductus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011844 myoclonic dystonia 15 NANDO:1200528 Dystonia 15 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011849 psoriatic arthritis NANDO:2201059 Psoriatic juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011871 Niemann-Pick disease type B NANDO:1200062 Niemann-Pick disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011871 Niemann-Pick disease type B NANDO:2201207 Niemann-Pick disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011872 Griscelli syndrome type 2 NANDO:2200732 Griscelli syndrome type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011886 torsion dystonia 13 NANDO:1200527 Dystonia 13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011888 immunodeficiency 67 NANDO:1200361 IRAK4 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011888 immunodeficiency 67 NANDO:2200762 IRAK4 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200014 Chronic myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200015 Juvenile myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A NANDO:2200861 Merosin-deficient congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011929 chromosome 1p36 deletion syndrome NANDO:1200682 1p36 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011975 paternal uniparental disomy of chromosome 14 NANDO:1200685 Paternal uniparental disomy of chromosome 14 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive NANDO:2200013 Chronic myeloid leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0011997 Hermansky-Pudlak syndrome 2 NANDO:2200733 Hermansky-Pudlak syndrome type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012104 acquired partial lipodystrophy NANDO:1200862 Acquired partial lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012105 granulomatosis with polyangiitis NANDO:1200263 Granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012105 granulomatosis with polyangiitis NANDO:1201009 Systemic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012105 granulomatosis with polyangiitis NANDO:2200424 Granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012126 familial avascular necrosis of femoral head NANDO:1200373 Idiopathic osteonecrosis of femoral head MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 NANDO:2200729 UNC13D/Munc13-4 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:1200326 CD8 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:2200699 CD8 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:1200974 Trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2200515 Trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2201147 Presymptomatic trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012176 Emanuel syndrome NANDO:1200689 Emanuel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012184 Pierson syndrome NANDO:2200117 Pierson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012197 idiopathic aplastic anemia NANDO:1200296 Idiopathic aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012197 idiopathic aplastic anemia NANDO:2201276 Idiopathic aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012198 PCWH syndrome NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012198 PCWH syndrome NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012206 Czech dysplasia, metatarsal type NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 NANDO:1200135 Schindler disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 NANDO:1200136 Schindler disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012268 AIDS NANDO:2100212 Acquired immune deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012268 AIDS NANDO:2200809 Acquired immune deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012295 complement component 5 deficiency NANDO:2200783 C5 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012316 Majeed syndrome NANDO:2200453 Majeed syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012350 complement factor H deficiency NANDO:2200791 Factor H deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012354 platelet-type bleeding disorder 8 NANDO:2200669 ADP receptor deficiencies MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency NANDO:2200771 MCM4 mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012412 complement component 7 deficiency NANDO:2200785 C7 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012429 Aicardi-Goutieres syndrome 2 NANDO:2200894 Aicardi-Goutieres syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012444 neurodegeneration with brain iron accumulation 2B NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012455 Kleefstra syndrome NANDO:1200959 9q34 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012471 Aicardi-Goutieres syndrome 3 NANDO:2200895 Aicardi-Goutieres syndrome 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012481 mevalonic aciduria NANDO:1200866 Hyper IgD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:1200584 Hypomyelination and congenital cataract MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:2201296 Hypomyelination and congenital cataract MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012521 herpes simplex encephalitis NANDO:2200772 Herpes simplex encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency NANDO:2200752 P14 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200747 Autoimmune pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200748 Idiopathic pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200746 Pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200750 Congenital alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:2200200 Congenital alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 NANDO:2200801 CD21 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012594 complement factor I deficiency NANDO:2200790 Factor I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012594 complement factor I deficiency NANDO:2200798 Factor I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012603 episodic kinesigenic dyskinesia 2 NANDO:1200532 Dystonia 19 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 NANDO:1200533 Dystonia 20 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency NANDO:2201152 Glycogen storage disease type 0b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200449 NLRP12-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200454 NLRP12-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012725 lipoprotein glomerulopathy NANDO:2200134 Lipoprotein glomerulopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012747 glycogen storage disease due to aldolase A deficiency NANDO:1200834 Glycogen storage diseases type XII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012764 RIDDLE syndrome NANDO:1200336 RIDDLE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012764 RIDDLE syndrome NANDO:2200710 RIDDLE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012789 dystonia 16 NANDO:1200529 Dystonia 16 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 NANDO:1200531 Dystonia 18 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012817 Ewing sarcoma NANDO:2200053 Ewing's sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:1200581 Mitochondrial Hsp60 chaperonopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:2201293 Mitochondrial Hsp60 chaperonopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:1200362 MyD88 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:2200763 MyD88 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012858 primary CD59 deficiency NANDO:2200804 Primary CD59 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012866 hereditary spastic paraplegia 35 NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012883 acute promyelocytic leukemia NANDO:2200007 Acute promyelocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012895 torsion dystonia 17 NANDO:1200530 Dystonia 17 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012901 inherited prekallikrein deficiency NANDO:2200684 Congenital prekallikrein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012908 complement component 6 deficiency NANDO:2200784 C6 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012911 pseudohypoparathyroidism type 1C NANDO:1201077 Pseudohypoparathyroidism type 1C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012912 pseudopseudohypoparathyroidism NANDO:2200348 Pseudopseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012941 inflammatory bowel disease 25 NANDO:2200448 IL-10RB deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency NANDO:1200982 Sepiapterin reductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012996 AGAT deficiency NANDO:1201033 Arginine:glycine amidinotransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012996 AGAT deficiency NANDO:2201299 AGAT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:1201034 Guanidinoacetate methyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:2201300 GAMT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013024 chronic thromboembolic pulmonary hypertension NANDO:1200429 Chronic thromboembolic pulmonary hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly NANDO:2200803 CD46 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency NANDO:1200835 Glycogen storage diseases type XIII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency NANDO:1200833 Glycogen storage diseases type XI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013059 Aicardi-Goutieres syndrome 5 NANDO:2200897 Aicardi-Goutieres syndrome 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013066 46,XY sex reversal 3 NANDO:1200405 SF-1 abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013081 lymphoproliferative syndrome 1 NANDO:2200734 IL-2-inducible T-cell kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013091 glycogen storage disease IXc NANDO:1200849 Hepatic glycogen storage disease type IXc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013091 glycogen storage disease IXc NANDO:2201166 Glycogen storage disease type IXc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 NANDO:2200731 STXBP2/Munc18-2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related NANDO:2200667 β-1 tubulin disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013153 inflammatory bowel disease 28 NANDO:2200447 IL-10RA deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013166 GABA aminotransaminase deficiency NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:1200325 Purine nucleoside phosphorylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:2200698 Purine nucleoside phosphorylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation NANDO:2200866 LMNA-related congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:1200755 Alpha-1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2100174 Alpha-1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2200611 Alpha-1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013291 glycogen storage disease XV NANDO:1200837 Glycogen storage diseases type XV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:1200402 P450 oxidoreductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:2200375 P450 oxidoreductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013316 occult macular dystrophy NANDO:1200934 Occult macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013343 C1Q deficiency NANDO:2200777 C1q deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013361 congenital prothrombin deficiency NANDO:2200673 Hypoprothrombinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013391 sterol carrier protein 2 deficiency NANDO:1200767 Sterol carrier protein 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013408 FADD-related immunodeficiency NANDO:2200741 Fas-associated death domain protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013417 complement component 3 deficiency NANDO:2200782 C3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013419 complement component C1s deficiency NANDO:2200779 C1s deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013423 immunodeficiency due to MASP-2 deficiency NANDO:2200793 MASP2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013433 primary sclerosing cholangitis NANDO:1200440 Primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013433 primary sclerosing cholangitis NANDO:2100265 Primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013445 complement component 9 deficiency NANDO:2200787 C9 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013467 immunodeficiency due to ficolin3 deficiency NANDO:2200794 Ficolin 3 Deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency NANDO:2200788 Factor D deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NANDO:2201283 p40phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013571 acatalasia NANDO:1200774 Acatalasemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency NANDO:2200719 Isolated IgG subclass deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013594 spinocerebellar ataxia type 36 NANDO:1200048 Spinocerebellar ataxia type 36 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013623 platelet-type bleeding disorder 11 NANDO:2200670 Abnormalities in platelet collagen receptors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013626 psoriasis 14, pustular NANDO:1200244 Acrodermatitis continua of Hallopeau MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013626 psoriasis 14, pustular NANDO:2200452 IL36RN deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013674 neurodegeneration with brain iron accumulation 4 NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency NANDO:2200912 Lipase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013766 familial cold autoinflammatory syndrome 3 NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013851 autosomal dominant aplasia and myelodysplasia NANDO:1200301 Borderline between aplastic anemia and MDS MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013862 immunodeficiency, common variable, 7 NANDO:2200801 CD21 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013869 adenine phosphoribosyltransferase deficiency NANDO:2200587 Adenine phosphoribosyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013873 IMAGe syndrome NANDO:1200406 IMAge syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200451 PLCg2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0013968 PGM1-congenital disorder of glycosylation NANDO:1200836 Glycogen storage diseases type XIV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis NANDO:1200726 Primary membranoproliferative glomerulonephritis type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014007 Aicardi-Goutieres syndrome 6 NANDO:2200898 Aicardi-Goutieres syndrome 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014078 platelet-type bleeding disorder 15 NANDO:2200665 ACTN1 mutations MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014252 familial hypobetalipoproteinemia 1 NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 NANDO:2200743 PKC-δ deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014255 complement factor b deficiency NANDO:2200797 Factor B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:1200995 Adenosine deaminase 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200441 Adenosine deaminase 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200450 Deficiency of the enzyme ADA2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency NANDO:2200766 HOIL-1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014421 glucocorticoid resistance NANDO:2200358 Glucocorticoid resistance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:1200994 NLRC4 mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:2200459 NLRC4 mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection NANDO:2200770 STAT2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome NANDO:2200985 Takenouchi-Kosaki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0014945 myopathy, distal, with rimmed vacuoles NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015075 thyroid gland carcinoma NANDO:2200074 Thyroid cancer MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015104 porphyria cutanea tarda NANDO:1200816 Porphyria cutanea tarda MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015104 porphyria cutanea tarda NANDO:2201267 Porphyria cutanea tarda MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015129 chronic primary adrenal insufficiency NANDO:1200411 Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200359 Other chronic adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200360 Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015131 combined immunodeficiency NANDO:2100203 Combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015146 classic lissencephaly NANDO:1201068 Agyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015146 classic lissencephaly NANDO:1201069 Pachygyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015149 pure hereditary spastic paraplegia NANDO:1200053 Pure hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015150 complex hereditary spastic paraplegia NANDO:1200054 Complex hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency NANDO:2200911 Amylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015175 autoimmune pancreatitis NANDO:1200925 Autoimmune pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015175 autoimmune pancreatitis NANDO:2200943 Autoimmune pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015183 short bowel syndrome NANDO:2100274 Short bowel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015183 short bowel syndrome NANDO:2200944 Short bowel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015194 sideroblastic anemia NANDO:2100179 Sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015194 sideroblastic anemia NANDO:2200616 Sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015197 aneurysm of sinus of Valsalva NANDO:2200293 Aneurysm of sinus valsalva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015229 Bardet-Biedl syndrome NANDO:2200414 Bardet-Biedl syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015231 Bartter syndrome NANDO:2100021 Bartter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015231 Bartter syndrome NANDO:2200146 Bartter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015253 Diamond-Blackfan anemia NANDO:1200890 Diamond-Blackfan anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015253 Diamond-Blackfan anemia NANDO:2200614 Congenital red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015264 cryptogenic organizing pneumonia NANDO:1200421 Cryptogenic organizing pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:1200745 Bronchiolitis obliterans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2100039 Bronchiolitis obliterans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2200209 Bronchiolitis obliterans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015268 medullary sponge kidney NANDO:2200173 Medullary sponge kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015273 complete atrioventricular canal NANDO:2100086 Complete atrioventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015273 complete atrioventricular canal NANDO:2200269 Complete atrioventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015275 partial atrioventricular canal NANDO:2200268 Incomplete atrioventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015277 medullary thyroid gland carcinoma NANDO:2201054 Medullary thyroid carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015279 chronic mucocutaneous candidiasis NANDO:1200363 Chronic mucocutaneous candidiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015279 chronic mucocutaneous candidiasis NANDO:2200764 Chronic mucocutaneous candidiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015280 cardiofaciocutaneous syndrome NANDO:1200462 CFC Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015280 cardiofaciocutaneous syndrome NANDO:2200967 CFC Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015285 Carney complex NANDO:1200756 Carney complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015333 progeroid syndrome NANDO:2100221 Progeroid syndromes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015337 isolated craniosynostosis NANDO:2200843 Non-syndromic craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015339 adrenomyeloneuropathy NANDO:1200168 Adrenomyeloneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015339 adrenomyeloneuropathy NANDO:2201248 Adrenomyeloneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015358 hereditary motor and sensory neuropathy NANDO:2200855 Hereditary Motor and Sensory Neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015369 Joubert syndrome and related disorders NANDO:1200661 Joubert syndrome and related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015369 Joubert syndrome and related disorders NANDO:2100218 Joubert syndrome related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015369 Joubert syndrome and related disorders NANDO:2200824 Joubert syndrome related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015375 orofaciodigital syndrome NANDO:1201051 Oral-facial-digital syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015395 congenital subglottic stenosis NANDO:1201004 Congenital subglottic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015395 congenital subglottic stenosis NANDO:2200190 Laryngeal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015408 diffuse lymphatic malformation NANDO:1200879 obsolete Lymphangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015408 diffuse lymphatic malformation NANDO:2201033 Lymphangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015436 ring chromosome 20 NANDO:1200597 Ring chromosome 20 syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015446 atypical coarctation of aorta NANDO:2200284 Coarctation complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015450 triatrial heart NANDO:2100083 Cor triatriatum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015450 triatrial heart NANDO:2200263 Cor triatriatum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015451 univentricular heart NANDO:1200704 Single ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015451 univentricular heart NANDO:2200250 Single ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015452 Coffin-Siris syndrome NANDO:1200670 Coffin-Siris syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015452 Coffin-Siris syndrome NANDO:2200977 Coffin-Siris syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015454 multiple carboxylase deficiency NANDO:1200820 Multiple carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015454 multiple carboxylase deficiency NANDO:2200500 Multiple carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015465 craniometaphyseal dysplasia NANDO:2201366 Craniometaphyseal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015469 craniosynostosis NANDO:2100227 Craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:1200971 Carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2200510 Carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015517 common variable immunodeficiency NANDO:1200344 Common variable immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015517 common variable immunodeficiency NANDO:2200717 Common variable immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015518 infantile bilateral striatal necrosis NANDO:2100242 Infantile bilateral striatal necrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015518 infantile bilateral striatal necrosis NANDO:2200888 Infantile bilateral striatal necrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015534 juvenile xanthogranuloma NANDO:2200037 Juvenile xanthogranuloma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015540 hemophagocytic syndrome NANDO:2200032 Hemophagocytic lymphohistiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015610 acquired aplastic anemia NANDO:2201277 Secondary aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015611 neutral lipid storage disease NANDO:1200622 Dorfman-Chanarin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015611 neutral lipid storage disease NANDO:2200997 Dorfman-Chanarin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015626 Charcot-Marie-Tooth disease NANDO:1200016 Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015626 Charcot-Marie-Tooth disease NANDO:2200855 Hereditary Motor and Sensory Neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly NANDO:2201016 Type II collagenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015677 cardiac diverticulum NANDO:2200234 Aneurysm of ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015691 hypereosinophilic syndrome NANDO:2200805 Hyper eosinophilic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015691 hypereosinophilic syndrome NANDO:2200806 Hypereosinophilic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015759 B-cell non-Hodgkin lymphoma NANDO:2200020 Mature B-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:1201042 Progressive familial intrahepatic cholestasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:2200933 Progressive familial intrahepatic cholestasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015770 congenital hypogonadotropic hypogonadism NANDO:1200383 Congenital hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis NANDO:2200388 Mixed gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015780 dyskeratosis congenita NANDO:1200304 Dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015780 dyskeratosis congenita NANDO:1200342 Dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015780 dyskeratosis congenita NANDO:2200715 Dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015790 central diabetes insipidus NANDO:1200375 Central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015790 central diabetes insipidus NANDO:2200324 Central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015791 peripheral precocious puberty NANDO:2200378 Non-gonadotropin-dependent precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015863 polyembryoma NANDO:2200068 Polyembryoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015864 mixed germ cell tumor NANDO:2200071 Mixed germ cell tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015892 growth hormone insensitivity syndrome NANDO:2100114 Growth hormone insensitivity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015892 growth hormone insensitivity syndrome NANDO:2200321 Growth hormone insensitivity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:1200775 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2100124 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2200345 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015900 hypoaldosteronism disease NANDO:2100132 Hypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015909 aplastic anemia NANDO:1200295 Aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015909 aplastic anemia NANDO:1200301 Borderline between aplastic anemia and MDS MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015909 aplastic anemia NANDO:2100201 Aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015909 aplastic anemia NANDO:2200693 Aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015924 pulmonary arterial hypertension NANDO:1200425 Pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015924 pulmonary arterial hypertension NANDO:2100103 Pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015924 pulmonary arterial hypertension NANDO:2200298 Pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015929 thoracic malformation NANDO:2201008 Thoracic insufficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:1200264 Eosinophilic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:2200427 Eosinophilic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015947 inherited ichthyosis NANDO:1200609 Congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015947 inherited ichthyosis NANDO:2100283 Congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015988 multicystic dysplastic kidney NANDO:2200158 Multicystic dysplastic kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0015993 cone-rod dystrophy NANDO:1200937 Cone-rod dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016006 Cockayne syndrome NANDO:1200677 Cockayne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016006 Cockayne syndrome NANDO:2200832 Cockayne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016019 Rasmussen subacute encephalitis NANDO:1200598 Rasmussen's encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016019 Rasmussen subacute encephalitis NANDO:2100246 Rasmussen's encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016019 Rasmussen subacute encephalitis NANDO:2200900 Rasmussen's encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016022 early myoclonic encephalopathy NANDO:1200594 Early myoclonic encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016025 myoclonic-astatic epilepsy NANDO:1200590 Epilepsy with myoclonic atonic seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016030 Evans syndrome NANDO:1200310 Evans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016033 Cornelia de Lange syndrome NANDO:1200960 Cornelia de lange syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016033 Cornelia de Lange syndrome NANDO:2200958 Cornelia de Lange syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016054 cerebral malformation NANDO:2100217 Brain malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016063 Cowden disease NANDO:2200918 Cowden syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016068 fibrochondrogenesis NANDO:2201016 Type II collagenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016079 sporadic Creutzfeldt-Jakob disease NANDO:1200187 Sporadic Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016081 coronary arterial fistulas NANDO:2200296 Coronary artery fistula MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency NANDO:2200586 Lesch-Nyhan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016089 infantile Krabbe disease NANDO:1200075 Infantile Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016089 infantile Krabbe disease NANDO:2201216 Infantile Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016091 adult Krabbe disease NANDO:1200077 Adult Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016091 adult Krabbe disease NANDO:2201219 Adult Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016107 myotonic dystrophy NANDO:1200495 Myotonic dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016107 myotonic dystrophy NANDO:2200864 Myotonic dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016110 obsolete non-dystrophic myopathy NANDO:1200496 Non-dystrophic myotonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016113 bulbospinal muscular atrophy NANDO:1200001 Spinal and bulbar muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016118 obsolete muscular glycogenosis NANDO:1200823 Muscle glycogen storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016129 eosinophilic gastroenteritis NANDO:1200457 Eosinophilic gastroenteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016147 qualitative or quantitative defects of dystrophin NANDO:1200487 Dystrophinopathies MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:1200465 Cryopyrin-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:2200432 Cryopyrin-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016233 obsolete rare lymphatic system malformation NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016239 cystinosis NANDO:1200161 Cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016239 cystinosis NANDO:2200571 Cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016241 alternating hemiplegia of childhood NANDO:1200403 Congenital adrenal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016241 alternating hemiplegia of childhood NANDO:1200525 Alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016241 alternating hemiplegia of childhood NANDO:2100239 Alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016241 alternating hemiplegia of childhood NANDO:2200357 Congenital adrenal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016241 alternating hemiplegia of childhood NANDO:2200883 Alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016242 hemoglobin C disease NANDO:2200635 Hemoglobin C disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200473 Atypical hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200474 Congenital atypical hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200131 Atypical hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200641 Atypical hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016264 autoimmune hepatitis NANDO:1200441 Autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016264 autoimmune hepatitis NANDO:1200442 Typical autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016264 autoimmune hepatitis NANDO:2100264 Autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016281 46,XX ovotesticular disorder of sex development NANDO:2200387 Ovotesticular dsd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:1200150 Neuronal ceroid-lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:2200573 Neuronal ceroid lipofuscinoses MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016296 holoprosencephaly NANDO:2200819 Holoprosencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200699 Complete transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200701 Complete transposition of the great arteries (Group2) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200703 Complete transposition of the great arteries (Group4) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2100079 Congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2200259 Congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation NANDO:1200701 Complete transposition of the great arteries (Group2) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:1200065 Adult-onset Niemann-Pick disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:2201209 Adult-onset Niemann-Pick disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:1200098 Hunter syndrome type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:2201173 Mucopolysaccharidosis type II, severe form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:1200099 Hunter syndrome type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201171 Mucopolysaccharidosis type II, attenuated form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201172 Mucopolysaccharidosis type II, intermediate form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016318 progressive multifocal leukoencephalopathy NANDO:1200205 Progressive multifocal leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016345 non-familial restrictive cardiomyopathy NANDO:1200294 Secondary restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016349 congenital hydrocephalus NANDO:2200822 Congenital hydrocephalus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016356 diffuse cutaneous systemic sclerosis NANDO:1201010 Diffuse cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016358 limited cutaneous systemic sclerosis NANDO:1201011 Limited cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016367 dermatomyositis NANDO:1200274 Dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016383 nephrogenic diabetes insipidus NANDO:1200742 Congenital nephrogenic diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016383 nephrogenic diabetes insipidus NANDO:2200326 Nephrogenic diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016391 neonatal diabetes mellitus NANDO:2200463 Neonatal diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016407 oligomeganephronia NANDO:2200159 Oligomeganephronia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016410 central congenital hypothyroidism NANDO:1200390 Thyroid-stimulating hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016410 central congenital hypothyroidism NANDO:2200332 Thyroid-stimulating hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016410 central congenital hypothyroidism NANDO:2200340 Central hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016418 multiple system atrophy, cerebellar type NANDO:1200035 Multiple system atrophy, cerebellar type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016430 Balo concentric sclerosis NANDO:1200028 Baló concentric sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016484 Usher syndrome type 2 NANDO:1200943 Usher syndrome Type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016485 Usher syndrome type 3 NANDO:1200944 Usher syndrome Type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016512 Kabuki syndrome NANDO:1200672 Kabuki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016512 Kabuki syndrome NANDO:2200956 Kabuki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016525 familial hyperaldosteronism NANDO:2200602 Familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016532 Lennox-Gastaut syndrome NANDO:1200591 Lennox-Gastaut syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016532 Lennox-Gastaut syndrome NANDO:2200879 Lennox-Gastaut syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016535 hypohidrotic ectodermal dysplasia NANDO:2201005 Anhidrotic ectodermal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016536 autosomal recessive lymphoproliferative disease NANDO:2200735 CD27 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome NANDO:2200446 IL10 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:1200786 Tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2200594 Tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2201076 BH4 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016575 primary ciliary dyskinesia NANDO:2100034 Primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016575 primary ciliary dyskinesia NANDO:2200203 Primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016575 primary ciliary dyskinesia NANDO:2200204 Kartagener syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016581 conotruncal heart malformations NANDO:2200275 Double-chambered right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016594 superficial siderosis NANDO:1200543 Superficial siderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016597 obsolete generalized pustular psoriasis NANDO:1200240 Pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016600 acute neonatal citrullinemia type I NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016601 adult-onset citrullinemia type I NANDO:2201095 Late-onset argininosuccinate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016602 citrin deficiency NANDO:1200978 Citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016602 citrin deficiency NANDO:2200483 Citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016603 citrullinemia type II NANDO:1200980 Adult-onset type II citrullinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:1200642 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2100288 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2201004 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016642 meningioma NANDO:2200094 Meningioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016684 anaplastic astrocytoma NANDO:2200086 Anaplastic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016686 diffuse astrocytoma NANDO:2200085 Diffuse astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016691 pilocytic astrocytoma NANDO:2200084 Pilocytic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016695 oligodendroglioma NANDO:2200089 Oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016698 ependymoma NANDO:2200088 Ependymoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016723 pineocytoma NANDO:2200092 Pineocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016730 gangliocytoma NANDO:2200097 Gangliocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016733 ganglioglioma NANDO:2200096 Ganglioglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA NANDO:2200524 Diseases due to mitochondrial DNA mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016812 dopa-responsive dystonia NANDO:1200516 Dystonia 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016812 dopa-responsive dystonia NANDO:2200885 Segawa syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016820 Moyamoya disease NANDO:1200183 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016820 Moyamoya disease NANDO:2100228 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016820 Moyamoya disease NANDO:2200850 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:1200492 Emery-Dreifuss muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:2200857 Emery-Dreifuss muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016952 partial duplication of the long arm of chromosome 1 NANDO:1200958 Partial trisomy 1q MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016971 limb-girdle muscular dystrophy NANDO:1200490 Limb-girdle muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016971 limb-girdle muscular dystrophy NANDO:2200858 Limb-girdle muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0016987 neuroacanthocytosis NANDO:1200013 Neuroacanthocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017025 Langerhans cell histiocytosis specific to childhood NANDO:2200031 Langerhans cell histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017029 Langerhans cell histiocytosis specific to adulthood NANDO:2200031 Langerhans cell histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017042 thanatophoric dysplasia NANDO:1200874 Thanatophoric dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017051 classic maple syrup urine disease NANDO:2201078 Classic form maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017052 intermediate maple syrup urine disease NANDO:2201079 Intermediate maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017053 intermittent maple syrup urine disease NANDO:2201080 Intermittent maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017054 thiamine-responsive maple syrup urine disease NANDO:2201081 Thiamine-responsive maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017069 spina bifida cystica NANDO:1200509 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017069 spina bifida cystica NANDO:2100215 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017069 spina bifida cystica NANDO:2200814 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017079 meningoencephalocele NANDO:2200813 Meningoencephalocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017096 isolated focal cortical dysplasia type Ia NANDO:1200565 Focal cortical dysplasia type 1a MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017097 isolated focal cortical dysplasia type Ib NANDO:1200566 Focal cortical dysplasia type 1b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017098 isolated focal cortical dysplasia type Ic NANDO:1200567 Focal cortical dysplasia type 1c MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017101 isolated focal cortical dysplasia type IIa NANDO:1200568 Focal cortical dysplasia type 2a MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017102 isolated focal cortical dysplasia type IIb NANDO:1200569 Focal cortical dysplasia type 2b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017147 idiopathic pulmonary arterial hypertension NANDO:2201046 Idiopathic pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017148 heritable pulmonary arterial hypertension NANDO:2201047 Familial pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease NANDO:2201048 Secondary pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017160 behavioral variant of frontotemporal dementia NANDO:1200549 Behavioral variant frontotemporal dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017169 multiple endocrine neoplasia NANDO:2100148 Multiple endocrine neoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017182 familial hyperinsulinism NANDO:2100143 Hyperinsulinemic hypoglycemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017182 familial hyperinsulinism NANDO:2200399 Congenital hyperinsulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017198 osteopetrosis NANDO:1200998 Osteopetrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017198 osteopetrosis NANDO:2201013 Osteopetrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:1200577 Pelizaeus-Merzbacher like disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:2201289 Pelizaeus-Merzbacher like disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017234 inherited prion disease NANDO:1200188 Genetic prion diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200714 Rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200723 Crescentic glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:2200991 Autosomal recessive congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017266 keratinopathic ichthyosis NANDO:1200610 Keratinopathic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017266 keratinopathic ichthyosis NANDO:2200987 Keratinopathic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017276 frontotemporal dementia NANDO:1200548 Frontotemporal lobar degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017278 autoimmune polyendocrinopathy NANDO:2100125 Autoimmune polyendocrinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017287 IgG4-related disease NANDO:1200923 IgG4-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017287 IgG4-related disease NANDO:1200924 IgG4-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:1200648 Ehlers-Danlos syndrome, vascular type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:2201258 Ehlers-Danlos syndrome, vascular type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017319 hereditary elliptocytosis NANDO:2200630 Hereditary elliptocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017353 neonatal glycine encephalopathy NANDO:1200985 Neonatal nonketotic hyperglycinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017354 infantile glycine encephalopathy NANDO:1200986 Infantile nonketotic hyperglycinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017359 3-methylglutaconic aciduria NANDO:1200989 Methylglutaconic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017359 3-methylglutaconic aciduria NANDO:2200496 Methylglutaconic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017361 congenital rubella syndrome NANDO:2200890 Congenital rubella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017364 POEMS syndrome NANDO:1200033 Crow-Fukase syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017380 juvenile polyposis syndrome NANDO:2200916 Juvenile polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017381 congenital herpes simplex virus infection NANDO:2200889 Congenital herpes simplex virus infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017385 malignant migrating partial seizures of infancy NANDO:1200595 Epilepsy of infancy with migrating focal seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:2201077 BH4-responsive hyperphenylalaninemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017398 3MC syndrome NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017409 fetal cytomegalovirus syndrome NANDO:2200891 Congenital cytomegalovirus infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017410 porencephaly NANDO:1201074 Porencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017570 leukocyte adhesion deficiency NANDO:1200355 Leukocyte adhesion deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017570 leukocyte adhesion deficiency NANDO:2200755 Leukocyte adhesion deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017574 chronic intestinal pseudoobstruction NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017574 chronic intestinal pseudoobstruction NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017608 obsolete dystrophic epidermolysis bullosa NANDO:2201343 Dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017610 epidermolysis bullosa simplex NANDO:1200235 Epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017610 epidermolysis bullosa simplex NANDO:2201341 Epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017610 epidermolysis bullosa simplex NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017612 junctional epidermolysis bullosa NANDO:1200236 Junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017612 junctional epidermolysis bullosa NANDO:2201342 Junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency NANDO:1200824 Glycogen storage diseases type 0 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:1200139 Classic infantile Pompe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:2201229 Classic infantile Pompe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form NANDO:2201159 Glycogen storage disease type IV, hepatic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017708 mevalonate kinase deficiency NANDO:2200436 Hyper IgD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017716 disorder of carnitine cycle and carnitine transport NANDO:1200969 Carnitine cycle disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes NANDO:2200522 Mitochondrial respiratory chain disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017720 GM2 gangliosidosis NANDO:1200070 GM2 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017720 GM2 gangliosidosis NANDO:2200559 GM2 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:1200079 Late infantile metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:2201202 Metachromatic leukodystrophy, late infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:1200081 Adult metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:2201204 Metachromatic leukodystrophy, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017732 alpha-mannosidosis, infantile form NANDO:1200127 Alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017732 alpha-mannosidosis, infantile form NANDO:2201188 Alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017733 alpha-mannosidosis, adult form NANDO:1200128 Alpha-mannosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017733 alpha-mannosidosis, adult form NANDO:2201189 Alpha-mannosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017734 sialidosis NANDO:1200116 Sialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017734 sialidosis NANDO:2200556 Sialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017737 intermediate severe Salla disease NANDO:1200148 Intermediate severe Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017737 intermediate severe Salla disease NANDO:2201238 Intermediate severe Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017746 atypical Rett syndrome NANDO:1200605 Atypical Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017773 hypoalphalipoproteinemia NANDO:2200605 HDL deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017778 lamellar ichthyosis NANDO:1200617 Lamellar ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency NANDO:1200134 Schindler disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017816 primary systemic amyloidosis NANDO:1200209 Systemic amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017827 malignant peripheral nerve sheath tumor NANDO:2200102 Malignant neurinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017838 sclerosteosis NANDO:2201369 Sclerosteosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017842 Senior-Loken syndrome NANDO:1201049 Senior-Loken syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017858 acute erythroid leukemia NANDO:2200010 Acute erythremia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:1200964 Congenital pulmonary vein stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:2200273 Pulmonary venous obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017870 supravalvular pulmonary stenosis NANDO:2200278 Supravalvular pulmonary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017910 dehydrated hereditary stomatocytosis NANDO:2200633 Stomatocytic xerocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:1200352 Autoimmune lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:2200726 Autoimmune lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017986 disorder of plasmalogens biosynthesis NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017987 syringomyelia NANDO:1200506 Syringomyelia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017987 syringomyelia NANDO:1200507 Symptomatic syringomyelia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200216 Polymorphic ventricular premature beat MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017991 Takayasu arteritis NANDO:1200251 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017991 Takayasu arteritis NANDO:2200423 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018018 wild type ATTR amyloidosis NANDO:1200212 Transthyretin-related senile systemic amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018029 congenital factor XIII deficiency NANDO:2200681 Factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018035 obsolete syndrome with combined immunodeficiency NANDO:2100203 Combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018037 hyper-IgE syndrome NANDO:1200340 Hyper-IgE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018037 hyper-IgE syndrome NANDO:2200713 Hyper-IgE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018048 heparin-induced thrombocytopenia NANDO:2200648 Heparin-induced thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018053 trichothiodystrophy NANDO:1200627 Trichothiodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018065 isolated trigonocephaly NANDO:2201305 Non-syndromic metopic craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018068 trisomy 13 NANDO:2200964 Trisomy 13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018071 trisomy 18 NANDO:2200963 Trisomy 18 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018072 persistent truncus arteriosus NANDO:1200693 Truncus arteriosus communis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018072 persistent truncus arteriosus NANDO:2200261 Truncus arteriosus communis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018088 familial Mediterranean fever NANDO:1200863 Familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018088 familial Mediterranean fever NANDO:2200431 Familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018089 double outlet right ventricle NANDO:1200710 Double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018089 double outlet right ventricle NANDO:2100076 Double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018089 double outlet right ventricle NANDO:2200256 Double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018090 double outlet left ventricle NANDO:2100077 Double-outlet left ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018090 double outlet left ventricle NANDO:2200257 Double-outlet left ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018097 West syndrome NANDO:1200592 West syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018097 West syndrome NANDO:2200878 West syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018105 Wolfram syndrome NANDO:1200757 Wolfram syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018112 isolated scaphocephaly NANDO:2201302 Non-syndromic sagittal craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018149 GM1 gangliosidosis NANDO:1200066 GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018149 GM1 gangliosidosis NANDO:2200558 GM1 Gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018150 Gaucher disease NANDO:1200056 Gaucher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018150 Gaucher disease NANDO:2200562 Gaucher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018153 Erdheim-Chester disease NANDO:2200038 Erdheim-Chester disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018155 lateral sclerosis NANDO:1200008 Primary lateral sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200523 Mitochondrial DNA depletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200528 Diseases due to mitochondrial DNA deletion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018170 idiopathic nephrotic syndrome NANDO:1200719 Primary nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018175 combined deficiency of factor V and factor VIII NANDO:2200686 Combined deficiency of coagulation factors V and VIII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018177 glioblastoma NANDO:2200087 Glioblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018178 intestinal lymphangiectasia NANDO:2100256 Intestinal lymphangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018178 intestinal lymphangiectasia NANDO:2200914 Intestinal lymphangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018209 Alexander disease type I NANDO:1200555 Alexander disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018210 Alexander disease type II NANDO:1200556 Alexander disease type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018229 Stevens-Johnson syndrome NANDO:1200245 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018229 Stevens-Johnson syndrome NANDO:2100290 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018229 Stevens-Johnson syndrome NANDO:2201006 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018240 TRPV4-related bone disorder NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:1201020 Hepatic glycogen storage disease type IX MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:2200544 Glycogen storage disease type IX MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200054 Primitive neuroectodermal tumors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200055 Peripheral primitive neuroectodermal tumors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018301 interstitial cystitis NANDO:1200743 Interstitial cystitis (Hunner type) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018305 chronic granulomatous disease NANDO:1200357 Chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018305 chronic granulomatous disease NANDO:2200757 Chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018306 Griscelli syndrome NANDO:1200640 Griscelli syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018307 neurodegeneration with brain iron accumulation NANDO:2100241 Neurodegeneration with brain iron accumulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018309 Hirschsprung disease NANDO:1200903 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018309 Hirschsprung disease NANDO:2200945 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018309 Hirschsprung disease NANDO:2200948 Congenital Isolated Hypoganglionosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018310 Langerhans cell histiocytosis NANDO:2200031 Langerhans cell histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018328 homozygous familial hypercholesterolemia NANDO:1200394 Homozygous familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018328 homozygous familial hypercholesterolemia NANDO:2201255 Homozygous familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018348 obsolete polyglucosan body myopathy type 1 NANDO:2200456 RBCK1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018438 eosinophilic gastrointestinal disease NANDO:1200454 Eosinophilic gastrointestinal disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018438 eosinophilic gastrointestinal disease NANDO:2200807 Eosinophilic gastrointestinal disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018467 nephropathic infantile cystinosis NANDO:1200162 Nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018467 nephropathic infantile cystinosis NANDO:2201234 Nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018470 renal agenesis NANDO:2200156 Renal aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018479 congenital adrenal hyperplasia NANDO:1200396 Congenital adrenal enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018479 congenital adrenal hyperplasia NANDO:1200397 Congenital lipoid adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018479 congenital adrenal hyperplasia NANDO:2100134 Congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018479 congenital adrenal hyperplasia NANDO:2200370 Congenital lipoid adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018483 secondary pulmonary alveolar proteinosis NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018542 severe congenital neutropenia NANDO:1200353 Severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018542 severe congenital neutropenia NANDO:2200745 Severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018544 adrenoleukodystrophy NANDO:1200165 Adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018544 adrenoleukodystrophy NANDO:2200576 Adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200428 Pulmonary capillary hemangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018555 hypogonadotropic hypogonadism NANDO:1200388 Hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018555 hypogonadotropic hypogonadism NANDO:2100138 Hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018555 hypogonadotropic hypogonadism NANDO:2200382 Hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018570 hypophosphatasia NANDO:1200656 Hypophosphatasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018570 hypophosphatasia NANDO:2201012 Hypophosphatasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018598 obsolete neonatal adrenoleukodystrophy NANDO:1200761 Neonatal adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018612 congenital hypothyroidism NANDO:2200333 Congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome NANDO:2200325 Adipsic hypernatremia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018638 pseudohypoaldosteronism NANDO:2100133 Pseudohypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018638 pseudohypoaldosteronism NANDO:2200367 Pseudohypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200311 Paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2100182 Paroxysmal nocturnal haemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2200621 Paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018645 IgG4-related sclerosing cholangitis NANDO:1200928 IgG4-related sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018646 sclerosing cholangitis NANDO:1200440 Primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018646 sclerosing cholangitis NANDO:2100265 Primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018666 hepatoblastoma NANDO:2200046 Hepatoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018671 IgG4-related kidney disease NANDO:1200930 IgG4-related kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018686 acquired Creutzfeldt-Jakob disease NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018737 catastrophic antiphospholipid syndrome NANDO:1200270 Catastrophic antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018746 mucous membrane pemphigoid NANDO:1200634 Mucous membrane pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018747 acquired epidermolysis bullosa NANDO:1200635 Epidermolysis bullosa acquisita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018762 non-acquired combined pituitary hormone deficiency NANDO:2200312 Congenital hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:1200466 Familial cold autoinflammatorysyndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200449 NLRP12-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200454 NLRP12-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2201068 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018778 intermediate Charcot-Marie-Tooth disease NANDO:1200019 Intermediate Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018781 KID syndrome NANDO:1200621 Keratitis-ichthyosis-deafness syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018781 KID syndrome NANDO:2200996 Keratitis-ichthyosis-deafness syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018800 Kallmann syndrome NANDO:2200381 Kallmann syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018808 Caroli syndrome NANDO:2200934 Caroli disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018824 pyoderma gangrenosum NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018838 lissencephaly spectrum disorders NANDO:1200574 Neuronal migration defects MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018838 lissencephaly spectrum disorders NANDO:2200817 Lissencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2100267 Congenital hepatic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2200936 Congenital hepatic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:1200996 Aicardi-Goutières Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2100244 Aicardi-Goutières Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2200893 Aicardi-Goutières Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018868 metachromatic leukodystrophy NANDO:1200078 Metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018868 metachromatic leukodystrophy NANDO:2200560 Metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018869 cobblestone lissencephaly NANDO:1201072 Cobblestone brain malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018872 acute megakaryoblastic leukemia NANDO:2200011 Acute megakaryoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018878 branchiootic syndrome NANDO:1200675 Branchio-oto-renal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018881 myelodysplastic syndrome NANDO:2100003 Myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018881 myelodysplastic syndrome NANDO:2200019 Myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:1200859 Generalized congenital lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:2200465 Lipoatrophic diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:1200316 Thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2100189 Thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2200649 Thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018901 left ventricular noncompaction NANDO:2200231 Non-compaction of the ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:1200725 Primary membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:2200123 Membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018907 craniopharyngioma NANDO:2200091 Craniopharyngioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018910 oculocutaneous albinism NANDO:1200637 Oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018910 oculocutaneous albinism NANDO:1200641 Non-syndromic oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018910 oculocutaneous albinism NANDO:2200986 Oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018911 maturity-onset diabetes of the young NANDO:2200462 Maturity-onset diabetes of the young MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018919 McCune-Albright syndrome NANDO:2200412 McCune-Albright syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018922 cold agglutinin disease NANDO:1200307 Cold agglutinin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018922 cold agglutinin disease NANDO:2200618 Cold agglutinin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018923 22q11.2 deletion syndrome NANDO:1200339 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018923 22q11.2 deletion syndrome NANDO:1200688 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018923 22q11.2 deletion syndrome NANDO:2200712 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:1200125 Mucolipidosis III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:2200568 Mucolipidosis III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018937 mucopolysaccharidosis type 3 NANDO:1200100 Sanfilippo disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018937 mucopolysaccharidosis type 3 NANDO:2200549 Mucopolysaccharidosis type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018938 mucopolysaccharidosis type 4 NANDO:1200105 Morquio syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018938 mucopolysaccharidosis type 4 NANDO:2200550 Mucopolysaccharidosis type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018940 congenital myasthenic syndrome NANDO:1200021 Congenital myasthenic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018945 McLeod neuroacanthocytosis syndrome NANDO:1200015 McLeod syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018947 centronuclear myopathy NANDO:1200481 Myotubular myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018947 centronuclear myopathy NANDO:1200482 Centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018947 centronuclear myopathy NANDO:2200867 Myotubular myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018948 multiminicore myopathy NANDO:1200480 Minicore myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018948 multiminicore myopathy NANDO:2200871 Multicore disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018949 distal myopathy NANDO:1200216 Distal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018954 Loeys-Dietz syndrome NANDO:2200969 Loeys-Dietz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018958 nemaline myopathy NANDO:1200478 Nemaline myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018958 nemaline myopathy NANDO:2200869 Nemaline myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018959 potassium-aggravated myotonia NANDO:1200500 Sodium channel myotonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018960 congenital primary megaureter NANDO:2200184 Megaureter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018965 Alport syndrome NANDO:1200712 Alport's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018965 Alport syndrome NANDO:2200126 Alport syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018974 paraneoplastic pemphigus NANDO:1200231 Paraneoplastic pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018975 neurofibromatosis type 1 NANDO:1200225 Neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018975 neurofibromatosis type 1 NANDO:1200226 Neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018975 neurofibromatosis type 1 NANDO:2100287 von Recklinghausen's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018975 neurofibromatosis type 1 NANDO:2201003 von Recklinghausen's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018979 multifocal motor neuropathy NANDO:1200031 Multifocal motor neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018982 Niemann-Pick disease type C NANDO:1200063 Niemann-Pick disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018993 Charcot-Marie-Tooth disease type 2 NANDO:1200018 Charcot-Marie-Tooth disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018997 Noonan syndrome NANDO:1200680 Noonan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018997 Noonan syndrome NANDO:2200413 Noonan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0018999 LCAT deficiency NANDO:1200852 Lecithin cholesterol acyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019003 multiple endocrine neoplasia type 2 NANDO:2200406 Multiple endocrine neoplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019004 kidney Wilms tumor NANDO:2200043 Wilms tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019005 nephronophthisis NANDO:1201036 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019005 nephronophthisis NANDO:2100015 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019005 nephronophthisis NANDO:2200140 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019005 nephronophthisis NANDO:2200170 Medullary cystic kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019009 isolated focal cortical dysplasia NANDO:1200564 Focal cortical dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019011 Charcot-Marie-Tooth disease type 1 NANDO:1200017 Charcot-Marie-Tooth disease type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019012 Carpenter syndrome NANDO:2200847 Carpenter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019019 osteogenesis imperfecta NANDO:1200873 Osteogenesis imperfecta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019019 osteogenesis imperfecta NANDO:2201011 Osteogenesis imperfecta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019029 segmental odontomaxillary dysplasia NANDO:1200561 Septo-optic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019035 pancreatoblastoma NANDO:2200082 Pancreatoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019037 progressive supranuclear palsy NANDO:1200009 Progressive supranuclear palsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019040 chromosomal disorder NANDO:1100014 Chromosome abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019040 chromosomal disorder NANDO:2100279 Chromosome abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019040 chromosomal disorder NANDO:2100280 Chromosome abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019046 leukodystrophy NANDO:1200575 Congenital hypomyelinating leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019046 leukodystrophy NANDO:2200836 Congenital hypomyelinating leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019052 inborn errors of metabolism NANDO:2100159 Inborn errors of metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019053 peroxisomal disease NANDO:1200758 Peroxisomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019053 peroxisomal disease NANDO:2100166 Peroxisomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019056 neuromuscular disease NANDO:1100001 Neuromuscular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019056 neuromuscular disease NANDO:2100214 Neuromuscular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019064 hereditary spastic paraplegia NANDO:1200052 Hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019065 amyloidosis NANDO:2200138 Amyloid nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019079 proximal spinal muscular atrophy NANDO:2100231 Spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019082 bullous pemphigoid NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019082 bullous pemphigoid NANDO:1200633 Bullous pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019100 neuromyelitis optica NANDO:1200027 Neuromyelitis optica spectrum disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019100 neuromyelitis optica NANDO:2201322 Neuromyelitis optica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019123 continuous spikes and waves during sleep NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019124 microscopic polyangiitis NANDO:1200262 Microscopic polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019124 microscopic polyangiitis NANDO:2200426 Microscopic polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019125 relapsing polychondritis NANDO:1200283 Relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019125 relapsing polychondritis NANDO:2100154 Relapsing Polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019125 relapsing polychondritis NANDO:2200428 Relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019127 polymyositis NANDO:1200276 Polymyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019139 acquired hemophilia NANDO:1200898 Acquired hemophilia A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019142 inherited porphyria NANDO:2200610 Congenital porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:1201080 Protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2100197 Protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2200689 Protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:1200359 Mendelian susceptibility to mycobacterial disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:2200759 Mendelian susceptibility to mycobacterial disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019148 Wolman disease NANDO:1200142 Acid lipase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019148 Wolman disease NANDO:1200143 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019148 Wolman disease NANDO:2200570 Acid lipase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019148 Wolman disease NANDO:2201232 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019149 cholesteryl ester storage disease NANDO:1200144 Cholesterol ester storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019149 cholesteryl ester storage disease NANDO:2201233 Cholesterol ester storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019154 androgen insensitivity syndrome NANDO:2200391 Androgen insensitivity syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019161 pseudohypoaldosteronism type 1 NANDO:2200368 Pseudohypoaldosteronism type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019162 pseudohypoaldosteronism type 2 NANDO:2200369 Pseudohypoaldosteronism type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019165 central precocious puberty NANDO:1200381 Central precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019165 central precocious puberty NANDO:2200377 Gonadotropin-dependent precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019169 pyruvate dehydrogenase deficiency NANDO:2200518 Pyruvate dehydrogenase complex deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019170 polyarteritis nodosa NANDO:1200261 Polyarteritis nodosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019170 polyarteritis nodosa NANDO:2200425 Polyangiitis nodosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019171 familial long QT syndrome NANDO:2200228 Long qt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019172 aniridia NANDO:1201001 Aniridia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019174 obsolete infantile Refsum disease NANDO:1200762 Infantile Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019175 primary lymphedema NANDO:2201031 Primary lymphedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:1200744 Osler disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2100296 Hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2201034 Hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019188 Rubinstein-Taybi syndrome NANDO:1200461 Rubinstein-Taybi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019188 Rubinstein-Taybi syndrome NANDO:2200955 Rubinstein-Taybi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019193 acquired generalized lipodystrophy NANDO:1200860 Acquired generalized lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019200 retinitis pigmentosa NANDO:1200431 Retinitis pigmentosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019203 acute interstitial pneumonia NANDO:1200420 Acute interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019208 Bickerstaff brainstem encephalitis NANDO:1200551 Bickerstaff's brainstem encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019214 inborn carbohydrate metabolic disorder NANDO:2100164 Disorder of carbohydrate metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019218 inborn disorder of bile acid synthesis NANDO:2200506 Inborn errors of bile acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019233 disorder of peroxisomal beta oxidation NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019234 peroxisome biogenesis disorder NANDO:1200759 Peroxisome biogenesis disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019234 peroxisome biogenesis disorder NANDO:2200575 Peroxisome biogenesis disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:1200155 Adult neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:2201244 Adult neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:1200152 Infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:2201241 Infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019263 autosomal erythropoietic protoporphyria NANDO:1200815 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 NANDO:1200137 Schindler disease type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019269 ichthyosis NANDO:1200618 Ichthyosis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200616 Congenital ichthyosiform erythroderma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200617 Lamellar ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019312 Hermansky-Pudlak syndrome NANDO:1200638 Hermansky-Pudlak syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019322 pemphigus vegetans NANDO:1200232 Pemphigus vegetans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019323 pemphigus erythematosus NANDO:1200233 Pemphigus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019324 pemphigus foliaceus NANDO:1200230 Pemphigus foliaceus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019328 macrocystic lymphatic malformation NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019338 sarcoidosis NANDO:1200415 Sarcoidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019341 obsolete tuberous sclerosis complex NANDO:1200607 Tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019341 obsolete tuberous sclerosis complex NANDO:2200826 Tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019346 sialidosis type 1 NANDO:1200117 Sialidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019346 sialidosis type 1 NANDO:2201191 Sialidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019349 Sotos syndrome NANDO:1200679 Sotos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019349 Sotos syndrome NANDO:2200953 Sotos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019350 hereditary spherocytosis NANDO:2200622 Hereditary spherocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019353 Stargardt disease NANDO:1200933 Stargardt disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019355 adult-onset Still disease NANDO:1200282 Adult Still's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019366 free sialic acid storage disease NANDO:1200146 Free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019366 free sialic acid storage disease NANDO:2200572 Free Sialic Acid Storage Disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019373 desmoplastic small round cell tumor NANDO:2200059 Desmoplastic small round cell tumors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019391 Fanconi anemia NANDO:1200303 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019391 Fanconi anemia NANDO:1200891 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019391 Fanconi anemia NANDO:2200652 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019399 Isaac syndrome NANDO:1200510 Isaacs syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019402 beta thalassemia NANDO:2201274 β-thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019403 congenital dyserythropoietic anemia NANDO:1200885 Congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019403 congenital dyserythropoietic anemia NANDO:2100178 Congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019403 congenital dyserythropoietic anemia NANDO:2200615 Congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019408 Astley-Kendall dysplasia NANDO:2201362 Astley-Kendall dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia NANDO:2200647 Neonatal alloimmune thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:1200471 Articular-type juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:2201056 Oligoarticular juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:1200470 Systemic juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:2201055 Systemic juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019438 AL amyloidosis NANDO:1200211 Amyloid light-chain amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019443 dextro-looped transposition of the great arteries NANDO:1200698 Corrected transposition of great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019448 benign adult familial myoclonic epilepsy NANDO:1200956 Benign adult familial myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200017 Acute undifferentiated leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200018 Mixed phenotype acute leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019470 aggressive NK-cell leukemia NANDO:2200012 NK cell leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019472 extranodal nasal NK/T cell lymphoma NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019480 Langerhans cell sarcoma NANDO:2200036 Langerhans cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019487 epilepsy with myoclonic absences NANDO:1200589 Myoclonic absence epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019499 Turner syndrome NANDO:2200410 Turner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019501 Usher syndrome NANDO:1200941 Usher syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019503 anterior segment dysgenesis NANDO:1201000 Anterior segment dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019532 autoimmune hemolytic anemia, warm type NANDO:1200306 Warm antibody hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:1200308 Paroxysmal cold hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:2200619 Paroxysmal cold hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019534 mixed-type autoimmune hemolytic anemia NANDO:1200309 Mixed-type autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019563 CREST syndrome NANDO:1201011 Limited cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019600 xeroderma pigmentosum NANDO:1200608 Xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019600 xeroderma pigmentosum NANDO:2100286 Xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019600 xeroderma pigmentosum NANDO:2201002 Xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019607 unspecified juvenile idiopathic arthritis NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019609 Zellweger spectrum disorders NANDO:1200760 Zellweger syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019611 TSH-secreting pituitary adenoma NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019622 non-specific interstitial pneumonia NANDO:1200419 Non-specific interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019623 hereditary angioedema NANDO:1200365 Hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019623 hereditary angioedema NANDO:2200795 Hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019637 renal hypoplasia NANDO:2200155 Hypoplastic kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019638 renal dysplasia NANDO:2200161 Renal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019639 congenital megacalycosis NANDO:2200177 Megacalycosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019642 vitamin D-dependent rickets, type 2 NANDO:1200783 Vitamin D-dependent rickets, type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis NANDO:2200111 Diffuse mesangial sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019669 hypochondrogenesis NANDO:2201346 Hypochondrogenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019701 chondrodysplasia punctata NANDO:2201017 Chondrodysplasia punctata MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019731 AApoAI amyloidosis NANDO:1201062 Familial amyloid polyneuropathy type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019734 juvenile polymyositis NANDO:2200419 Juvenile polymyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019736 dense deposit disease NANDO:1200739 Primary membranoproliferative glomerulonephritis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200319 Secondary thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019751 autoinflammatory syndrome NANDO:2100156 Autoinflammatory disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019773 myelomeningocele NANDO:1200509 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019773 myelomeningocele NANDO:2100215 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019773 myelomeningocele NANDO:2200814 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019787 autoimmune enteropathy NANDO:2200923 Autoimmune enteropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019799 hepatoerythropoietic porphyria NANDO:1200819 Hepatoerythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019799 hepatoerythropoietic porphyria NANDO:2201270 Hepatoerythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019804 tracheomalacia NANDO:2200195 Tracheomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019810 toxic epidermal necrolysis NANDO:1200246 Toxic epidermal necrolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019810 toxic epidermal necrolysis NANDO:2201007 Toxic epidermal necrolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019813 congenital tricuspid stenosis NANDO:1200962 Congenital tricuspid stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019832 acquired pituitary hormone deficiency NANDO:2200313 Acquired hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019854 thyroid ectopia NANDO:2200330 Ectoic thyroid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019855 athyreosis NANDO:2200331 Thyroid agenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019933 acromegaly NANDO:2100112 Acromegaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019933 acromegaly NANDO:2200315 Acromegaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019948 reducing body myopathy NANDO:2200875 Reducing body myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019952 congenital myopathy NANDO:1200477 Congenital myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019952 congenital myopathy NANDO:2100234 Congenital myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019959 glucagonoma NANDO:2100142 Glucagonoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019959 glucagonoma NANDO:2200397 Glucagonoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019960 VIPoma NANDO:2200394 Vipoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019983 multiloculated renal cyst NANDO:2200171 Multilocular cysts of the kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019992 pseudohypoparathyroidism NANDO:1200776 Pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019992 pseudohypoparathyroidism NANDO:2100126 Pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0019992 pseudohypoparathyroidism NANDO:2200349 Pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020007 absence of the pulmonary artery NANDO:2200282 Unilateral absence of a pulmonary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020022 central nervous system malformation NANDO:2200118 Central nervous system malformation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020040 46,XY disorder of sex development NANDO:2200393 Disorders of sex development of 46,XX MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development NANDO:2200393 Disorders of sex development of 46,XX MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020064 pulmonary valve agenesis NANDO:2100095 Absent pulmonary valve MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020064 pulmonary valve agenesis NANDO:2200280 Absent pulmonary valve MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020066 Ehlers-Danlos syndrome NANDO:1200645 Ehlers-Danlos Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020066 Ehlers-Danlos syndrome NANDO:2200607 Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020074 progressive myoclonus epilepsy NANDO:1200953 Progressive myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020074 progressive myoclonus epilepsy NANDO:2100237 Progressive myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020088 familial partial lipodystrophy NANDO:1200861 Familial partial lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020099 inherited sideroblastic anemia NANDO:1200892 Hereditary sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020102 hereditary stomatocytosis NANDO:2200623 Hereditary stomatocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020108 autoimmune hemolytic anemia NANDO:1200305 Autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020108 autoimmune hemolytic anemia NANDO:2100181 Autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020121 muscular dystrophy NANDO:1200486 Muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020121 muscular dystrophy NANDO:2100233 Muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020242 hereditary macular dystrophy NANDO:1200931 Macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020311 chronic myelomonocytic leukemia NANDO:2200014 Chronic myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020320 acute myeloblastic leukemia with maturation NANDO:2200006 Acute myeloid leukemia with maturation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020321 acute undifferentiated leukemia NANDO:2200017 Acute undifferentiated leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020325 anaplastic large cell lymphoma NANDO:2200021 Anaplastic large cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020337 congenital dyserythropoietic anemia type 1 NANDO:1200886 Congenital dyserythropoietic anemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020338 adult pure red cell aplasia NANDO:1200889 Acquired pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020338 adult pure red cell aplasia NANDO:2200613 Acquired pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020341 periventricular nodular heterotopia NANDO:1201079 Periventricular nodular heterotopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020352 multiple system atrophy, parkinsonian type NANDO:1200036 Multiple system atrophy, Parkinsonian type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation NANDO:1200703 Complete transposition of the great arteries (Group4) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020391 pulmonary artery coming from the aorta NANDO:2200281 Origin of pulmonary artery from ascending aorta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020398 congenital mitral stenosis NANDO:1200963 Congenital mitral stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020400 congenital supravalvular mitral ring NANDO:2200308 Supramitral ring MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020413 encircling double aortic arch NANDO:2200290 Double aortic arch disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020428 congenital Gerbode defect NANDO:2100090 Left ventricular-right atrial communication MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020428 congenital Gerbode defect NANDO:2200274 Left ventricular-right atrial communication MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020434 atrial septal defect, ostium secundum type NANDO:2200266 Atrial septal defect, ostium secundum type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020436 atrial septal defect, sinus venosus type NANDO:2200267 Atrial septal defect, sinus venosus type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020439 patent foramen ovale NANDO:2200266 Atrial septal defect, ostium secundum type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020453 congenital partial pulmonary venous return anomaly NANDO:2200272 Partial anomalous pulmonary venous connection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020459 unstable hemoglobin disease NANDO:2200625 Unstable hemoglobin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020460 acquired von willebrand syndrome NANDO:1200899 Acquired von Willebrand disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020479 pituitary gigantism NANDO:2100111 Pituitary gigantism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020479 pituitary gigantism NANDO:2200314 Pituitary gigantism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 NANDO:2200365 Aldosterone synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020491 subcortical band heterotopia NANDO:1201070 Subcortical band heterotopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020492 hemimegalencephaly NANDO:1200563 Hemimegalencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200001 B-cell precursor lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200022 Precursor B lymphoblastic lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020547 chronic graft versus host disease NANDO:2100213 Chronic graft-versus-host disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020547 chronic graft versus host disease NANDO:2200812 Chronic graft-versus-host disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020560 atypical teratoid rhabdoid tumor NANDO:2200101 Atypical teratoid, rhabdoid tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020586 factor V deficiency NANDO:2200674 Factor V deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020587 factor XI deficiency NANDO:2200679 Factor XI deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020599 acquired coagulation factor deficiency NANDO:1200896 Autoimmune acquired coagulation factor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:1200630 Conradi Hünermann Happle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020640 autoimmune encephalitis NANDO:2100248 Autoimmune encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020640 autoimmune encephalitis NANDO:2200902 Autoimmune encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020642 polycystic kidney disease NANDO:1200367 Polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020642 polycystic kidney disease NANDO:2200152 Polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020690 adult glioblastoma NANDO:2200087 Glioblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:1200611 Autosomal dominant epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:2200988 Autosomal dominant epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020743 mixed phenotype acute leukemia NANDO:2200018 Mixed phenotype acute leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020793 oculopharyngodistal myopathy 1 NANDO:1200219 Oculopharyngodistal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020803 obsolete bundle branch block NANDO:2100046 Bundle branch block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0020803 obsolete bundle branch block NANDO:2200215 Bundle branch block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021055 classic familial adenomatous polyposis NANDO:2200915 Familial adenomatous polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021061 neurofibromatosis NANDO:1200225 Neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021061 neurofibromatosis NANDO:1200226 Neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021061 neurofibromatosis NANDO:1200227 Neurofibromatosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021061 neurofibromatosis NANDO:2201003 von Recklinghausen's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021081 anti-NMDA receptor encephalitis NANDO:2201317 Anti-NMDA receptor encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021094 immunodeficiency disease NANDO:2100204 Immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021133 acquired factor XIII deficiency NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021134 acquired factor X deficiency NANDO:1201048 Acquired factor X inhibitor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021209 heart neoplasm NANDO:2100061 Cardiac tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021209 heart neoplasm NANDO:2200236 Cardiac tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021902 aortopulmonary window NANDO:2100082 Aorto-pulmonary window MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021902 aortopulmonary window NANDO:2200262 Aorto-pulmonary window MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021915 arakawa syndrome 2 NANDO:2201111 Methylcobalamin deficiency cblG type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0021969 Banti syndrome NANDO:1200438 Idiopathic portal hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022205 pustular psoriasis NANDO:1200240 Pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022205 pustular psoriasis NANDO:2100285 Pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022205 pustular psoriasis NANDO:2201001 Pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022308 corticobasal degeneration disorder NANDO:1200011 Corticobasal degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022402 agyria-pachygyria type 1 NANDO:1201068 Agyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022402 agyria-pachygyria type 1 NANDO:1201069 Pachygyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022424 alpha-mannosidosis type 1 NANDO:1200127 Alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022424 alpha-mannosidosis type 1 NANDO:2201188 Alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022800 type 2 collagenopathy NANDO:2201016 Type II collagenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022858 continuous spike-wave during slow sleep syndrome NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0022880 obsolete corticobasal degeneration NANDO:1200011 Corticobasal degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation NANDO:1200841 Hepatic glycogen storage disease type Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0023419 hyperprolinemia NANDO:2200471 Hyperprolinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024291 vascular malformation NANDO:2100295 Vascular malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024299 vitamin D-dependent rickets NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024299 vitamin D-dependent rickets NANDO:2100144 Vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024299 vitamin D-dependent rickets NANDO:2200401 Vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024300 hypophosphatemic rickets NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024300 hypophosphatemic rickets NANDO:1200780 Vitamin D-resistant osteomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024300 hypophosphatemic rickets NANDO:2200402 Vitamin D-resistant osteomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024300 hypophosphatemic rickets NANDO:2200403 Primary hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) NANDO:1200643 Pseudoxanthoma elasticum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024327 chronic renal failure syndrome NANDO:2100023 Chronic renal failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024457 neurodegeneration with brain iron accumulation 2A NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024536 glucocorticoid deficiency 1 NANDO:1200408 MC2R deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024538 basal ganglia calcification, idiopathic, 1 NANDO:1200208 Familial idiopathic basal ganglia calcification MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024574 von Willebrand disease (hereditary or acquired) NANDO:2200682 Von Willebrand disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024623 otorhinolaryngologic disease NANDO:1100015 Otorhinolaryngological disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024644 myocardial ischemia NANDO:2100070 Ischemic heart disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024677 pancreatic insulinoma NANDO:2200398 Insulinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0024746 immature teratoma NANDO:2200106 Immature teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0025193 oculopharyngodistal myopathy NANDO:1200219 Oculopharyngodistal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0028737 obsolete biliary atresia disorder NANDO:1200913 Biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0028737 obsolete biliary atresia disorder NANDO:2200930 biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0037792 carbohydrate metabolism disease NANDO:2100164 Disorder of carbohydrate metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0037858 inherited fatty acid metabolism disorder NANDO:2100162 Disorder of fatty-acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0037871 amino acid metabolism disease NANDO:2100160 Disorder of amino acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0037939 porphyria NANDO:1200811 Porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0042727 sacrococcygeal teratoma NANDO:2100216 Sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0042727 sacrococcygeal teratoma NANDO:2200816 Sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0042727 sacrococcygeal teratoma NANDO:2201287 Altman type IV sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0042981 aortic valve stenosis NANDO:2200306 Aortic valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0042983 neurocutaneous syndrome NANDO:2100220 Neurocutaneous syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0043094 ichthyosis, follicular NANDO:1200628 Ichthyosis follicularis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0043152 negative rheumatoid factor polyarthritis NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0043267 rheumatoid vasculitis NANDO:1200265 Rheumatoid vasculitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0043317 amyopathic dermatomyositis NANDO:1200275 Amyopathic dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0043472 ectopic ACTH secretion syndrome NANDO:2200351 Ectopic ACTH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0043768 thrombocytopenic purpura NANDO:2100188 Thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044354 obsolete Rosai-Dorfman disease NANDO:2200039 Rosai-Dorfman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:1200612 Autosomal recessive epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:2200989 Autosomal recessive epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044744 prekallikrein deficiency NANDO:2200684 Congenital prekallikrein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044807 inherited dystonia NANDO:1200511 Hereditary dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044808 obsolete early onset primary dystonia NANDO:1200512 Dystonia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044873 childhood myelodysplastic syndrome NANDO:2100003 Myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044873 childhood myelodysplastic syndrome NANDO:2200019 Myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044903 myelofibrosis NANDO:2100200 Myelofibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044903 myelofibrosis NANDO:2200692 Myelofibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044917 T-lymphoblastic lymphoma NANDO:2200023 Precursor T lymphoblastic lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044970 mitochondrial disease NANDO:1200173 Mitochondrial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0044970 mitochondrial disease NANDO:2100163 Mitochondrial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0045022 disorder of organic acid metabolism NANDO:2100161 Disorder of organic acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0045045 selective IgG immunodeficiency NANDO:1200346 IgG subclass deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100025 epilepsy of infancy with migrating focal seizures NANDO:1200595 Epilepsy of infancy with migrating focal seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100062 developmental and epileptic encephalopathy NANDO:1200593 Ohtahara syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100064 tyrosine hydroxylase deficiency NANDO:2200595 Tyrosine hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 NANDO:2200662 Familial platelet disorder with propensity to myeloid. MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100133 mitochondrial complex I deficiency NANDO:1200180 Mitochondrial complex I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100135 Dravet syndrome NANDO:1200587 Dravet syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100135 Dravet syndrome NANDO:2200877 Severe myoclonic epilepsy in infancy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100151 nephropathic cystinosis NANDO:1200162 Nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100151 nephropathic cystinosis NANDO:2201234 Nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100189 apolipoprotein A-I deficiency NANDO:2200605 HDL deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive NANDO:2200737 STAT5b deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100222 A20 haploinsufficiency NANDO:1200997 A20 haploinsufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100222 A20 haploinsufficiency NANDO:2200458 A20 haploinsufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 NANDO:1200180 Mitochondrial complex I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index c6734e56..7264c38f 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -183,8 +183,9 @@ $(TMPDIR)/component-%.json: $(COMPONENTSDIR)/%.owl $(ROBOT) convert -i $< -f json -o $@ .PRECIOUS: $(TMPDIR)/component-%.json -$(MAPPINGSDIR)/%.sssom.tsv: $(TMPDIR)/component-%.json metadata/mondo.sssom.config.yml - sssom parse $< -I obographs-json --prefix-map-mode merged -m metadata/mondo.sssom.config.yml -o $@ +$(MAPPINGSDIR)/%.sssom.tsv: + make $(TMPDIR)/component-$*.json metadata/mondo.sssom.config.yml + sssom parse $(TMPDIR)/component-$*.json -I obographs-json --prefix-map-mode merged -m metadata/mondo.sssom.config.yml -o $@ sssom sort $@ -o $@ $(MAPPINGSDIR)/ordo.sssom.tsv: $(TMPDIR)/component-ordo.json @@ -556,7 +557,8 @@ $(TMPDIR)/nord.tsv: wget "https://rdbdev.wpengine.com/wp-content/uploads/mondo-export/rare_export.tsv" -O $@ $(EXTERNAL_CONTENT_DIR)/%.robot.owl: $(EXTERNAL_CONTENT_DIR)/%.robot.tsv - $(ROBOT) template --template $< \ + $(ROBOT) template \ + --template $< \ annotate \ --ontology-iri $(URIBASE)/mondo/external/nord.robot.owl \ --version-iri $(URIBASE)/mondo/external/$(TODAY)/nord.robot.owl \ @@ -585,6 +587,9 @@ $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv: tmp/ordo-subsets.tsv tmp/mondo.s .PHONY: external-content-ordo external-content-ordo: $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.owl $(EXTERNAL_CONTENT_DIR)/ordo-subsets.robot.tsv +$(MAPPINGSDIR)/mondo-nando.sssom.tsv: $(MAPPINGSDIR)/nando-mondo.sssom.tsv + sssom invert $(MAPPINGSDIR)/nando-mondo.sssom.tsv --no-merge-inverted -o $@ + $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv: $(MAPPINGSDIR)/mondo-nando.sssom.tsv mkdir -p $(EXTERNAL_CONTENT_DIR) python ../scripts/sssom_to_robot_template.py --inpath $^ --outpath $@ From 05386de40a9db5f92e9db306513deb47dea9caf9 Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Fri, 17 May 2024 15:15:53 -0400 Subject: [PATCH 07/14] Update goal: $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv Refactor future proof for potential future edge case bug Co-authored-by: Nico Matentzoglu --- src/ontology/mondo-ingest.Makefile | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 7264c38f..15c91563 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -592,7 +592,7 @@ $(MAPPINGSDIR)/mondo-nando.sssom.tsv: $(MAPPINGSDIR)/nando-mondo.sssom.tsv $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv: $(MAPPINGSDIR)/mondo-nando.sssom.tsv mkdir -p $(EXTERNAL_CONTENT_DIR) - python ../scripts/sssom_to_robot_template.py --inpath $^ --outpath $@ + python ../scripts/sssom_to_robot_template.py --inpath $< --outpath $@ .PRECIOUS: $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv .PHONY: external-content-nord external-content-nando From b3d112bf4e4c2b6357d26d9fcc5c6744d95bc902 Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Fri, 17 May 2024 15:53:39 -0400 Subject: [PATCH 08/14] Update src/scripts/sssom_to_robot_template.py Updated header field ORCID --> author_id, for consistency and correctness Co-authored-by: Nico Matentzoglu --- src/scripts/sssom_to_robot_template.py | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/scripts/sssom_to_robot_template.py b/src/scripts/sssom_to_robot_template.py index 5ec4e0a8..6ec2c62f 100644 --- a/src/scripts/sssom_to_robot_template.py +++ b/src/scripts/sssom_to_robot_template.py @@ -13,7 +13,7 @@ 'object_id': 'A oboInOwl:hasDbXref', 'object_label': '', 'equivalence': '>A oboInOwl:source', - 'ORCID': '>A oboInOwl:source SPLIT=|', + 'author_id': '>A oboInOwl:source SPLIT=|', } From 45a9b06c52df1b5c6858e6a95e85b6357187e1e1 Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Fri, 17 May 2024 15:53:49 -0400 Subject: [PATCH 09/14] Update src/scripts/sssom_to_robot_template.py Co-authored-by: Nico Matentzoglu --- src/scripts/sssom_to_robot_template.py | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/scripts/sssom_to_robot_template.py b/src/scripts/sssom_to_robot_template.py index 6ec2c62f..04ad4f12 100644 --- a/src/scripts/sssom_to_robot_template.py +++ b/src/scripts/sssom_to_robot_template.py @@ -28,7 +28,7 @@ def sssom_to_robot_template(inpath: Union[str, Path], outpath: Union[str, Path]) # Conversion df = df[['subject_id', 'subject_label', 'object_id', 'object_label']].sort_values(['subject_id', 'object_id']) df['equivalence'] = 'MONDO:equivalentTo' - df['ORCID'] = '|'.join(msdf.metadata['creator_id']) + df['author_id'] = '|'.join(msdf.metadata['creator_id']) df = pd.concat([pd.DataFrame([ROBOT_ROW]), df]) # Write From 16bb818eb9fa965dd4151121ebcee336784ce8dc Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Fri, 17 May 2024 16:00:29 -0400 Subject: [PATCH 10/14] SSSOMtoROBOT & NanDO mappings SSSOMtoROBOT - Bug fix: Column order was preventing axiom annotations from being correctly applied/linked. - Add: mapping_provider - Add: More skos -> MONDO mapping predicates --- .../external/nando-mappings.robot.tsv | 4694 ++++++++--------- src/scripts/sssom_to_robot_template.py | 17 +- 2 files changed, 2358 insertions(+), 2353 deletions(-) diff --git a/src/ontology/external/nando-mappings.robot.tsv b/src/ontology/external/nando-mappings.robot.tsv index 64a5aa97..82ee52f2 100644 --- a/src/ontology/external/nando-mappings.robot.tsv +++ b/src/ontology/external/nando-mappings.robot.tsv @@ -1,2347 +1,2347 @@ -subject_id subject_label object_id object_label equivalence ORCID -ID A oboInOwl:hasDbXref >A oboInOwl:source >A oboInOwl:source SPLIT=| -MONDO:0000050 isolated congenital growth hormone deficiency NANDO:2200317 Congenital growth hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000087 polymicrogyria NANDO:1201071 Polymicrogyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000088 precocious puberty NANDO:2100135 Precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:1200334 ICF syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:2200708 ICF syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000147 polyposis NANDO:2100257 Polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000153 transposition of the great arteries NANDO:2200258 Complete transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000188 GLUT1 deficiency syndrome NANDO:1200799 Glucose transporter 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000190 ventricular fibrillation NANDO:2100052 Ventricular fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000190 ventricular fibrillation NANDO:2200227 Ventricular fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000351 disorder of methionine catabolism NANDO:2200475 Hypermethioninemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:1200215 Ullrich disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:2200862 Ullrich congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000390 vitelliform macular dystrophy NANDO:1200932 Vitelliform macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000437 cerebellar ataxia NANDO:1200037 Spinocerebellar degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000437 cerebellar ataxia NANDO:2100238 Spinocerebellar degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000437 cerebellar ataxia NANDO:2200882 Spinocerebellar degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000450 secondary progressive multiple sclerosis NANDO:1200026 Secondary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000450 secondary progressive multiple sclerosis NANDO:2201321 Secondary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000451 primary progressive multiple sclerosis NANDO:1200025 Primary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000451 primary progressive multiple sclerosis NANDO:2201320 Primary progressive multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000455 cone dystrophy NANDO:1200936 Cone dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000456 cerebral creatine deficiency syndrome NANDO:1201032 Cerebral creatine deficiency syndromes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2100226 Cerebral creatine deficiency syndromes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2200842 Cerebral creatine deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000468 third-degree atrioventricular block NANDO:2200214 Complete atrio-ventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000521 salivary gland carcinoma NANDO:2200076 Salivary grand carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2100014 Familial juvenile hyperuricemic nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2200139 Familial juvenile hyperuricemic nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000721 xanthinuria NANDO:2200588 Xanthinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000811 anomalous left coronary artery from the pulmonary artery NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000839 obsolete congenital abnormality NANDO:1200957 Congenital anomalies syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia NANDO:2200002 Mature B-cell lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000875 adult acute monocytic leukemia NANDO:2200008 Acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000875 adult acute monocytic leukemia NANDO:2200009 Acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000903 myoclonus-dystonia syndrome NANDO:1200522 Dystonia 11 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000940 trypanosomiasis NANDO:2200774 Trypanosomiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000984 thalassemia NANDO:2200626 Thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0000995 familial periodic paralysis NANDO:1200502 Hereditary periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001083 Fanconi renotubular syndrome NANDO:2100027 Fanconi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001083 Fanconi renotubular syndrome NANDO:2200187 Fanconi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001085 interstitial nephritis NANDO:2200136 Tubulointerstitial nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001105 renal hypertension NANDO:2100016 Renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001105 renal hypertension NANDO:2200141 Renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001110 chronic pyelonephritis NANDO:2100012 Chronic pyelonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001110 chronic pyelonephritis NANDO:2200137 Chronic pyelonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001115 familial polycythemia NANDO:2100187 Familial polycythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001115 familial polycythemia NANDO:2200644 Familial polycythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001220 hypoparathyroidism NANDO:1200775 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001220 hypoparathyroidism NANDO:2100124 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001220 hypoparathyroidism NANDO:2200345 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001243 disseminated intravascular coagulation NANDO:2200639 Disseminated intravascular coagulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001261 Mobitz type II atrioventricular block NANDO:2100044 Mobitz type II second degree atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001261 Mobitz type II atrioventricular block NANDO:2200213 Mobitz type II second degree atrioventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001298 congenital mitral valve insufficiency NANDO:2200303 Mitral regurgitation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001324 obsolete hyperandrogenism NANDO:2200380 Hyperandrogenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001328 thyroid hormone resistance syndrome NANDO:1200395 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001328 thyroid hormone resistance syndrome NANDO:2100121 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001328 thyroid hormone resistance syndrome NANDO:2200341 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001336 familial hyperlipidemia NANDO:2200603 Familial combined hyperlipidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001341 selective IgA deficiency disease NANDO:1200347 Selective IgA deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001341 selective IgA deficiency disease NANDO:2200720 Selective IgA deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:1200491 Facioscapulohumeral muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:2200859 Facioscapulohumeral muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001414 osteopoikilosis NANDO:2201024 Osteopoikilosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001422 primary aldosteronism NANDO:2200361 Aldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001437 pulmonary alveolar proteinosis NANDO:1200746 Pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001493 chronic pulmonary heart disease NANDO:2200299 Chronic cor pulmonale MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001516 spinal muscular atrophy NANDO:1200003 Spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001516 spinal muscular atrophy NANDO:2100231 Spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001516 spinal muscular atrophy NANDO:2200853 Spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001558 Potter sequence NANDO:2200157 Potter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2200547 Mucopolysaccharidosis type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2201168 Hurler Disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001645 crescentic glomerulonephritis NANDO:1200714 Rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001645 crescentic glomerulonephritis NANDO:1200723 Crescentic glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001676 erythropoietic protoporphyria NANDO:1200815 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001676 erythropoietic protoporphyria NANDO:2201266 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001700 megaloblastic anemia NANDO:2100176 Megaloblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001700 megaloblastic anemia NANDO:2200612 Megaloblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001705 pure red-cell aplasia NANDO:2100177 Pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001713 inherited aplastic anemia NANDO:1200302 Congenital aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001713 inherited aplastic anemia NANDO:2201275 Congenital aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001734 tuberous sclerosis NANDO:1200607 Tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001734 tuberous sclerosis NANDO:2200826 Tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001741 hyperparathyroidism NANDO:2100123 Hyperparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001741 hyperparathyroidism NANDO:2200343 Hyperparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001790 spinal cord lipoma NANDO:2200815 Spinal lipoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001823 sick sinus syndrome NANDO:2100043 Sick sinus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001823 sick sinus syndrome NANDO:2200212 Sick sinus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001909 renal tubular acidosis NANDO:2100019 Renal tubular acidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001909 renal tubular acidosis NANDO:2200144 Renal tubular acidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001927 pulmonary valve insufficiency NANDO:2200305 Pulmonary valve regurgitation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001946 obsolete hyperestrogenism NANDO:2200379 Hyperestrogenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001969 mixed gonadal dysgenesis NANDO:2200388 Mixed gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0001982 Niemann-Pick disease NANDO:2200561 Niemann-Pick disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002012 methylmalonic acidemia NANDO:1200793 Methylmalonic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002012 methylmalonic acidemia NANDO:2200491 Methylmalonic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002013 lymphangioma NANDO:2201032 Lymphangioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002070 ventricular septal defect NANDO:2100087 Ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002070 ventricular septal defect NANDO:2200270 Ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002108 thyroid cancer NANDO:2200074 Thyroid cancer MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002145 disorder of sexual differentiation NANDO:2100140 Disorders of sex development MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002241 factor XIII deficiency NANDO:2200681 Factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002244 factor VII deficiency NANDO:2200675 Factor VII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002247 factor X deficiency NANDO:2200678 Factor X deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002304 protein S deficiency NANDO:1201081 Protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002304 protein S deficiency NANDO:2100198 Protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002304 protein S deficiency NANDO:2200690 Protein S deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002327 intracranial cavernous angioma NANDO:2200852 Cavernous angioma of the brain and spinal cord MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002412 disorder of glycogen metabolism NANDO:1200838 Hepatic glycogen storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002413 glycogen storage disease I NANDO:1200840 Hepatic glycogen storage disease type Ia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002413 glycogen storage disease I NANDO:1201018 Hepatic glycogen storage disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002413 glycogen storage disease I NANDO:2200538 Glycogen storage disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002429 idiopathic interstitial pneumonia NANDO:1200416 Idiopathic interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002429 idiopathic interstitial pneumonia NANDO:2200199 Idiopathic interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002442 long QT syndrome NANDO:2100053 Long QT syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002442 long QT syndrome NANDO:2200228 Long qt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002461 membranoproliferative glomerulonephritis NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002461 membranoproliferative glomerulonephritis NANDO:2200123 Membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002470 photosensitive trichothiodystrophy NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002473 cystic kidney disease NANDO:2200172 Simple renal cyst MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002474 primary hyperoxaluria NANDO:2200503 Primary hyperoxaluria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002540 childhood oligodendroglioma NANDO:2200089 Oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002543 adult oligodendroglioma NANDO:2200089 Oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002546 schwannoma NANDO:2200103 Neurinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002561 lysosomal storage disease NANDO:1200055 Lysosomal storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002561 lysosomal storage disease NANDO:2100165 Lysosomal storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002568 tracheal stenosis NANDO:2200194 Tracheal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002623 pediatric osteosarcoma NANDO:2200048 Osteosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002637 histiocytosis NANDO:2100005 Histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002676 adult fibrosarcoma NANDO:2200060 Fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002678 pediatric fibrosarcoma NANDO:2200060 Fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002714 central nervous system cancer NANDO:2100007 Central nervous system tumors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002718 central nervous system teratoma NANDO:2200104 Teratoma of the central nervous system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002728 rhabdoid tumor NANDO:2200057 Malignant rhabdoid tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002794 adult medulloblastoma NANDO:2200090 Medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002797 childhood medulloblastoma NANDO:2200090 Medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002807 bronchial neoplasm NANDO:2200081 Bronchial tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002869 heart valve disorder NANDO:2100105 Valvular heart disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002870 tricuspid valve insufficiency NANDO:2200301 Tricuspid valve regurgitation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002921 congenital structural myopathy NANDO:1200482 Centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002921 congenital structural myopathy NANDO:2200867 Myotubular myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002926 clear cell sarcoma NANDO:2200062 Clear cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0002933 osteosclerosis NANDO:2201022 Osteosclerotic diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003002 dysgerminoma NANDO:2200066 Dysgerminoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003057 pediatric meningioma NANDO:2200094 Meningioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003075 bilateral retinoblastoma NANDO:2201038 Bilateral retinoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003136 anti-basement membrane glomerulonephritis NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:1201029 Mesangial proliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:2200122 Mesangial proliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003157 disappearing bone disease NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003157 disappearing bone disease NANDO:1200880 obsolete Gorham disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003330 urinary tract obstruction NANDO:2200178 Obstructive uropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003517 mature teratoma NANDO:2200105 Mature teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003523 gastrin-producing neuroendocrine tumor NANDO:2200395 Gastrinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003585 adult liposarcoma NANDO:2200065 Liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003587 pediatric liposarcoma NANDO:2200065 Liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003659 pediatric lymphoma NANDO:2100004 Lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003660 adult lymphoma NANDO:2100004 Lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003664 hemolytic anemia NANDO:2200636 Hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003689 familial hemolytic anemia NANDO:2100183 Hereditary hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003759 childhood ovarian yolk sac tumor NANDO:2200069 Yolk sac tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003778 inborn error of immunity NANDO:1200320 Primary immunodeficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003778 inborn error of immunity NANDO:2100204 Immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003832 complement deficiency NANDO:1200364 Inherited deficiency of complement system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003832 complement deficiency NANDO:2200776 Inherited deficiency of complement system MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003900 connective tissue disorder NANDO:2100172 Connective tissue disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003924 adrenal cortex adenoma NANDO:2200352 Adrenal adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003947 hyper-IgM syndrome NANDO:1200345 Hyper-IgM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003947 hyper-IgM syndrome NANDO:2200718 Hyper-IgM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003964 myositis ossificans NANDO:1200871 Fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0003964 myositis ossificans NANDO:2201020 Fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004000 childhood pilocytic astrocytoma NANDO:2200084 Pilocytic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:1200173 Mitochondrial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:2100163 Mitochondrial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004218 childhood germ cell brain tumor NANDO:2200108 Intracranial germ cell tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004335 digestive system disorder NANDO:1100013 Gastrointestinal disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004355 childhood leukemia NANDO:2100002 Leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004425 hyperthyroidism NANDO:2100119 Hyperthyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004425 hyperthyroidism NANDO:2200329 Hyperthyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004471 bacterial arthritis NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004591 impetigo herpetiformis NANDO:1200243 Impetigo herpetiformis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:1200368 Autosomal dominant polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:2200153 Autosomal dominant polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004737 homocystinuria NANDO:1201038 Homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004737 homocystinuria NANDO:2200474 Homocystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004739 urea cycle disorder NANDO:1200802 Urea cycle disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004782 diabetes insipidus NANDO:2100117 Diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004822 bronchiectasis NANDO:2100036 Bronchiectasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004822 bronchiectasis NANDO:2200206 Bronchiectasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004890 partial central choroid dystrophy NANDO:1200939 Central areolar choroidal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004933 hypoplastic left heart syndrome NANDO:1200705 Hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004933 hypoplastic left heart syndrome NANDO:2100071 Hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004933 hypoplastic left heart syndrome NANDO:2200249 Hypoplastic left heart syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004952 Hodgkins lymphoma NANDO:2200024 Hodgkin lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004955 obsolete metabolic syndrome NANDO:1100002 Metabolic disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004963 T-cell acute lymphoblastic leukemia NANDO:2200003 T-cell lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004974 adrenal gland pheochromocytoma NANDO:2200078 Pheochromocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004976 amyotrophic lateral sclerosis NANDO:1200002 Amyotrophic lateral sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004977 angioimmunoblastic T-cell lymphoma NANDO:2200029 Angioimmunoblastic T-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004978 obsolete aortic stenosis NANDO:2100098 Aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004981 atrial fibrillation NANDO:2100051 Atrial fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004981 atrial fibrillation NANDO:2200226 Atrial fibrillation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004995 cardiovascular disorder NANDO:1100005 Cardiovascular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0004997 chondroblastoma NANDO:2200051 Chondroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005006 clear cell sarcoma of kidney NANDO:2200044 Clear cell sarcoma of the kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005011 Crohn disease NANDO:1200444 Crohn's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005011 Crohn disease NANDO:1200446 Colonic Crohn's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005011 Crohn disease NANDO:2200921 Crohn's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005015 diabetes mellitus NANDO:2100157 Diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005015 diabetes mellitus NANDO:2100158 Diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005021 dilated cardiomyopathy NANDO:2100057 Dilated cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005021 dilated cardiomyopathy NANDO:2200232 Dilated cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005029 essential thrombocythemia NANDO:2100194 Essential thrombocythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005029 essential thrombocythemia NANDO:2200655 Essential thrombocythemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005035 ganglioneuroblastoma NANDO:2200041 Ganglioneuroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200286 Hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200288 Hypertrophic obstructive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005045 hypertrophic cardiomyopathy NANDO:2100054 Hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005045 hypertrophic cardiomyopathy NANDO:2200229 Hypertrophic cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005045 hypertrophic cardiomyopathy NANDO:2201042 Hypertrophic obstructive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005046 immune system disorder NANDO:1100004 Immune system disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005046 immune system disorder NANDO:2100202 Immune system disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005058 leiomyosarcoma NANDO:2200064 Leiomyosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005059 leukemia NANDO:2100002 Leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005060 liposarcoma NANDO:2200065 Liposarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005062 lymphoma NANDO:2100004 Lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005066 metabolic disease NANDO:1100002 Metabolic disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005068 myocardial infarction NANDO:2200248 Myocardial infarction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005072 neuroblastoma NANDO:2200040 Neuroblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005086 renal cell carcinoma NANDO:2200045 Renal cell carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005087 respiratory system disorder NANDO:1100010 Respiratory disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005093 skin disorder NANDO:2100281 Skin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005100 systemic sclerosis NANDO:1200277 Systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005100 systemic sclerosis NANDO:2200429 Systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005101 ulcerative colitis NANDO:1200449 Ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005101 ulcerative colitis NANDO:2200920 Ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005102 undifferentiated (embryonal) sarcoma NANDO:2200058 Undifferentiated sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005105 melanoma NANDO:2200077 Malignant melanoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005109 HIV infectious disease NANDO:2200810 HIV infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005147 type 1 diabetes mellitus NANDO:2200460 Diabetes mellitus type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005148 type 2 diabetes mellitus NANDO:2200461 Diabetes mellitus type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005151 endocrine system disorder NANDO:1100009 Endocrine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005151 endocrine system disorder NANDO:2100109 Endocrine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005152 hypopituitarism NANDO:1200387 Hypopituitarism syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005152 hypopituitarism NANDO:2100110 Hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005155 cirrhosis of liver NANDO:2100268 Liver cirrhosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005155 cirrhosis of liver NANDO:2200937 Liver cirrhosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005160 aortic aneurysm NANDO:2100101 Aortic aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005160 aortic aneurysm NANDO:2200294 Aortic aneurysm MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005164 fibrosarcoma NANDO:2200060 Fibrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005180 Parkinson disease NANDO:1200010 Parkinson's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005181 progressive external ophthalmoplegia NANDO:1200174 Chronic progressive external ophthalmoplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005201 restrictive cardiomyopathy NANDO:1200292 Restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005201 restrictive cardiomyopathy NANDO:1200293 Idiopathic restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005201 restrictive cardiomyopathy NANDO:2100058 Restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005201 restrictive cardiomyopathy NANDO:2200233 Restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005204 primary antiphospholipid syndrome NANDO:1200267 Primary antiphospholipid antibody syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005207 choriocarcinoma NANDO:2200070 Choriocarcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005212 rhabdomyosarcoma NANDO:2200056 Rhabdomyosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005223 acute myeloid leukemia with minimal differentiation NANDO:2200004 Acute myeloid leukemia with minimal differentiation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005224 acute myeloblastic leukemia without maturation NANDO:2200005 Acute myeloid leukemia without maturation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005265 inflammatory bowel disease NANDO:2100259 Inflammatory bowel disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005300 chronic kidney disease NANDO:2100008 Chronic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005300 chronic kidney disease NANDO:2100023 Chronic renal failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005301 multiple sclerosis NANDO:1200023 Multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005301 multiple sclerosis NANDO:2100250 Multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005301 multiple sclerosis NANDO:2200904 Multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005306 ankylosing spondylitis NANDO:1200870 Ankylosing spondylitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005310 atrial flutter NANDO:2100050 Atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005310 atrial flutter NANDO:2200218 Multiple atrial tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005310 atrial flutter NANDO:2200225 Atrial flutter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:1200024 Relapsing-remitting multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:2201319 Relapsing-remitting multiple sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005342 IgA glomerulonephritis NANDO:1200366 IgA nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005342 IgA glomerulonephritis NANDO:2200121 IgA nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005361 eosinophilic esophagitis NANDO:1200456 Eosinophilic esophagitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:1200722 Focal segmental glomerulosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:2200113 Focal segmental glomerulosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005364 Graves disease NANDO:2200328 Basedow disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005369 carcinoid tumor NANDO:2200396 Carcinoid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005376 membranous glomerulonephritis NANDO:1200721 Membranous nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005376 membranous glomerulonephritis NANDO:2200114 Membranous nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005377 nephrotic syndrome NANDO:2100009 Nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005381 bone disorder NANDO:2100291 Bone disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005381 bone disorder NANDO:2100293 Bone disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005385 vascular disorder NANDO:2100294 Vascular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005387 primary ovarian failure NANDO:2100139 Hypergonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005388 primary biliary cholangitis NANDO:1200439 Primary biliary cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005420 hypothyroidism NANDO:2100120 Hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005429 prion disease NANDO:1200186 Prion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005437 testicular dysgenesis syndrome NANDO:2200383 Testicular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005439 familial hypercholesterolemia NANDO:2200602 Familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005440 embryonal carcinoma NANDO:2200067 Embryonal carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005477 ventricular tachycardia NANDO:2100049 Ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005479 atrial tachycardia NANDO:2200218 Multiple atrial tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005508 hereditary multiple osteochondromas NANDO:2200049 Osteochondromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005508 hereditary multiple osteochondromas NANDO:2201014 Multiple cartilaginous exostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005508 hereditary multiple osteochondromas NANDO:2201015 Enchondromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005532 Crohn's colitis NANDO:1200446 Colonic Crohn's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005533 distal colitis NANDO:1200451 Left-sided colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005534 ileocolitis NANDO:1200447 Crohn ileocolitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005536 pancolitis NANDO:1200450 Pan-ulcerative colitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005539 small bowel Crohn disease NANDO:1200445 small bowel Crohn disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005549 renal cell adenocarcinoma NANDO:2200045 Renal cell carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005554 rheumatic disorder NANDO:2100151 Collagen disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005554 rheumatic disorder NANDO:2100152 Collagen disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005556 lupus nephritis NANDO:2200128 Lupus nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005570 hematologic disorder NANDO:1100006 Blood disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005570 hematologic disorder NANDO:2100175 Blood disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005624 atrophic thyroiditis NANDO:2200336 Atrophic thyroiditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005648 aortic valve insufficiency NANDO:2200307 Aortic valve regurgitation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005711 congenital diaphragmatic hernia NANDO:1200911 Congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005711 congenital diaphragmatic hernia NANDO:2100040 Congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005711 congenital diaphragmatic hernia NANDO:2200210 Congenital diaphragmatic hernia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005713 obsolete MONDO:0005713 NANDO:2200890 Congenital rubella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005715 congenital toxoplasmosis NANDO:2200892 Congenital toxoplasmosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005744 yolk sac tumor NANDO:2200069 Yolk sac tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005764 follicular dendritic cell sarcoma NANDO:2200034 Follicular dendritic cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005775 G6PD deficiency NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2100143 Hyperinsulinemic hypoglycemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2200399 Congenital hyperinsulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005804 hyperprolactinemia NANDO:2100115 Hyperprolactinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005804 hyperprolactinemia NANDO:2200322 Hyperprolactinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005810 infectious mononucleosis NANDO:1200668 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005810 infectious mononucleosis NANDO:2200976 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005813 interdigitating dendritic cell sarcoma NANDO:2200035 Interdigitating dendritic cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005827 lipoatrophic diabetes NANDO:2200465 Lipoatrophic diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005852 mitral valve stenosis NANDO:1200963 Congenital mitral stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005852 mitral valve stenosis NANDO:2200302 Mitral valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005854 mixed connective tissue disease NANDO:1200278 Mixed connective tissue disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005854 mixed connective tissue disease NANDO:2200430 Mixed connective tissue disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005965 spinal stenosis NANDO:1200372 Coexisting cervical and lumbar spinal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0005997 tricuspid valve stenosis NANDO:2200300 Tricuspid valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006007 vesicoureteral reflux NANDO:2200179 Vesicoureteral reflux MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006055 sex cord-stromal tumor NANDO:2200072 Sex-cord stromal tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200385 Growth hormone secreting pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006287 malignancy in giant cell tumor of bone NANDO:2200052 Malignancy in giant cell tumour of bone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006373 pituitary gland adenoma NANDO:2200095 Pituitary adenoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy NANDO:2200039 Rosai-Dorfman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006444 teratoma with malignant transformation NANDO:2200107 Teratoma with malignant transformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006451 thymic carcinoma NANDO:2200079 Malignant thymoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006536 congenital generalized lipodystrophy NANDO:1200859 Generalized congenital lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006541 epidermolysis bullosa NANDO:1200234 Epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006541 epidermolysis bullosa NANDO:2100284 Epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006541 epidermolysis bullosa NANDO:2201000 Epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006573 lipodystrophy NANDO:1200858 Lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006573 lipodystrophy NANDO:2100147 Lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006573 lipodystrophy NANDO:2200404 Lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006594 pemphigus NANDO:1200228 Pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006639 adrenal cortex carcinoma NANDO:2200073 Adrenocortical carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006656 aortitis NANDO:1200251 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006656 aortitis NANDO:2200423 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2100130 Apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2200362 Apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006664 atrial septal defect NANDO:2100085 Atrial septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006689 obsolete carcinoid syndrome NANDO:2200396 Carcinoid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006711 constrictive pericarditis NANDO:2100064 Constrictive pericarditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006711 constrictive pericarditis NANDO:2200239 Constrictive pericarditis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006715 coronary stenosis NANDO:2200246 Stenosis or atresia of coronary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006779 heart aneurysm NANDO:2200234 Aneurysm of ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006785 obsolete Henoch-Schoenlein purpura NANDO:1200741 Henoch-Schonlein purpura nephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006795 hypersplenism NANDO:2200637 Hypersplenism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006802 inappropriate ADH syndrome NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006802 inappropriate ADH syndrome NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006802 inappropriate ADH syndrome NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006823 Klinefelter syndrome NANDO:2200386 Klinefelter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006835 lipoid nephrosis NANDO:1200720 Minimal change nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006835 lipoid nephrosis NANDO:2200112 Minimal change nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006935 pulmonary subvalvular stenosis NANDO:2100092 Subvalvular pulmonary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006935 pulmonary subvalvular stenosis NANDO:2200276 Subvalvular pulmonary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006936 pulmonary valve stenosis NANDO:2200304 Pulmonary valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006947 renovascular hypertension NANDO:2100016 Renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006947 renovascular hypertension NANDO:2200141 Renovascular hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006987 subvalvular aortic stenosis NANDO:2100093 Subvalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0006987 subvalvular aortic stenosis NANDO:2200277 Subvalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007012 variant Creutzfeldt-Jakob disease NANDO:1200194 Variant Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007029 branchio-oto-renal syndrome NANDO:1200675 Branchio-oto-renal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007032 prune belly syndrome NANDO:2200185 Prune belly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007037 Achondroplasia NANDO:1200877 Achondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007037 Achondroplasia NANDO:2201009 Achondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007039 neurofibromatosis type 2 NANDO:1200227 Neurofibromatosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007041 Apert syndrome NANDO:1200667 Apert syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007041 Apert syndrome NANDO:2200844 Apert syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007042 Saethre-Chotzen syndrome NANDO:2200848 Saethre-Chotzen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007043 Pfeiffer syndrome NANDO:1200668 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007043 Pfeiffer syndrome NANDO:2200976 Pfeiffer syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:1200323 Adenosine deaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:2200696 Adenosine deaminase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007078 Pseudohypoparathyroidism type 1A NANDO:1201075 Pseudohypoparathyroidism type 1A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007097 Finnish type amyloidosis NANDO:1201063 Familial amyloid polyneuropathy type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007099 familial visceral amyloidosis NANDO:2200138 Amyloid nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007100 familial amyloid neuropathy NANDO:1200214 Familial amyloid polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007100 familial amyloid neuropathy NANDO:1201060 Familial amyloid polyneuropathy type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007109 congenital dyserythropoietic anemia type 3 NANDO:1200888 Congenital dyserythropoietic anemia type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007113 Angelman syndrome NANDO:1200686 Angelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007113 Angelman syndrome NANDO:2200960 Angelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007130 congenital total pulmonary venous return anomaly NANDO:2200271 Total anomalous pulmonary venous connection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007140 obsolete antiphospholipid syndrome NANDO:1200271 Antiphospholipid antibody-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007140 obsolete antiphospholipid syndrome NANDO:2200421 Anti-phospholipid antibody syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007154 arteriovenous malformations of the brain NANDO:2100229 Cerebral arteriovenous malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007154 arteriovenous malformations of the brain NANDO:2200851 Cerebral arteriovenous malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007160 Stickler syndrome type 1 NANDO:2201354 Stickler syndrome type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007182 Machado-Joseph disease NANDO:1200041 Spinocerebellar ataxia type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007187 nevoid basal cell carcinoma syndrome NANDO:2200828 Gorlin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007191 Behcet disease NANDO:1200284 Behcet's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007191 Behcet disease NANDO:2200422 Behcet's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007203 blue rubber bleb nevus NANDO:2201027 Blue rubber bleb nevus syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007256 hepatocellular carcinoma NANDO:2200047 Hepatocellular carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007294 central core myopathy NANDO:1200479 Central core disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007294 central core myopathy NANDO:2200870 Central core disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007296 spinocerebellar ataxia type 31 NANDO:1200044 Spinocerebellar ataxia type 31 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007315 cherubism NANDO:2200444 Cherubism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007318 Alagille syndrome NANDO:1200918 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007318 Alagille syndrome NANDO:1200919 Typical Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007318 Alagille syndrome NANDO:2200931 Alagille syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 NANDO:1200519 Dystonia 8 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007345 aorta coarctation NANDO:2200283 Coarctation of the aorta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007345 aorta coarctation NANDO:2200284 Coarctation complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007361 C1 inhibitor deficiency NANDO:1200365 Hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007361 C1 inhibitor deficiency NANDO:2200795 Hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007363 congenital contractural arachnodactyly NANDO:2201026 Beals syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007369 hereditary coproporphyria NANDO:1200813 Hereditary coproporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007369 hereditary coproporphyria NANDO:2201264 Hereditary coproporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007403 inherited Creutzfeldt-Jakob disease NANDO:1200189 Familial Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007404 Cri-du-chat syndrome NANDO:1200684 5p deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007404 Cri-du-chat syndrome NANDO:2200961 5p- syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007405 Crouzon syndrome NANDO:1200666 Crouzon's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007405 Crouzon syndrome NANDO:2200845 Crouzon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007414 Gorham-Stout disease NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007414 Gorham-Stout disease NANDO:1200880 obsolete Gorham disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007435 dentatorubral-pallidoluysian atrophy NANDO:1200043 Dentatorubropallidoluysian atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007450 neurohypophyseal diabetes insipidus NANDO:2201050 Familial central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2200461 Diabetes mellitus type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2201069 Maturity-onset diabetes of the young type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007453 maturity-onset diabetes of the young type 2 NANDO:2201070 Maturity-onset diabetes of the young type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:1200512 Dystonia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2100240 Dystonia musculorum deformans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2200884 Dystonia musculorum deformans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007493 torsion dystonia 4 NANDO:1200515 Dystonia 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 NANDO:1200521 Dystonia 10 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007495 dystonia 5 NANDO:1200516 Dystonia 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007496 dystonia 12 NANDO:1200523 Dystonia 12 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007496 dystonia 12 NANDO:1200524 Rapid-onset dystonia-parkinsonism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:1200646 Ehlers-Danlos syndrome, classical type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:2201256 Ehlers-Danlos syndrome, classical type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007534 Beckwith-Wiedemann syndrome NANDO:2200959 Beckwith-Wiedemann syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007540 multiple endocrine neoplasia type 1 NANDO:2200405 Multiple endocrine neoplasia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007542 Camurati-Engelmann disease NANDO:2200970 Camurati-Engelmann disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:1200871 Fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:2201020 Fibrodysplasia ossificans progressiva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007669 renal cysts and diabetes syndrome NANDO:2201073 Maturity-onset diabetes of the young type 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007671 fibronectin glomerulopathy NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007691 Guillain-Barre syndrome, familial NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007699 Hashimoto thyroiditis NANDO:2200335 Hashimoto disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007708 Kasabach-Merritt syndrome NANDO:2100297 Kasabach-Merritt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007708 Kasabach-Merritt syndrome NANDO:2201035 Kasabach-Merritt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007727 autosomal dominant familial periodic fever NANDO:1200472 TNF receptor-associated periodic fever syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007727 autosomal dominant familial periodic fever NANDO:2200433 TNF receptor-associated periodic fever syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007739 Huntington disease NANDO:1200012 Huntington's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007741 congenital hydronephrosis NANDO:2200176 Ureteropelvic junction obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007750 hypercholesterolemia, familial, 1 NANDO:2200602 Familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007793 hypochondroplasia NANDO:2201010 Hypochondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia NANDO:1200382 Idiopathic hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007803 multiple system atrophy NANDO:1200034 Multiple system atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007813 superficial epidermolytic ichthyosis NANDO:1200613 Superficial epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007813 superficial epidermolytic ichthyosis NANDO:2200990 Superficial epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007827 inclusion body myositis NANDO:1200032 Sporadic inclusion body myositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007827 inclusion body myositis NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007864 angioosteohypertrophic syndrome NANDO:1200884 Klippel-Trenaunay-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007864 angioosteohypertrophic syndrome NANDO:2201030 Klippel-Trenaunay-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007875 Larsen syndrome NANDO:2201019 Larsen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007879 larynx atresia NANDO:2200190 Laryngeal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007895 platyspondylic dysplasia, Torrance type NANDO:2201347 Platyspondylic dysplasia, Torrance type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007896 acute monocytic leukemia NANDO:2200008 Acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007896 acute monocytic leukemia NANDO:2200009 Acute monocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007915 systemic lupus erythematosus NANDO:1200272 Systemic lupus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007915 systemic lupus erythematosus NANDO:2200416 Systemic lupus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007947 Marfan syndrome NANDO:1200644 Marfan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007947 Marfan syndrome NANDO:2200968 Marfan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007954 obsolete May-Hegglin anomaly NANDO:1200893 Epstein syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2100193 May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200127 Epstein syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200654 May-Hegglin anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007959 medulloblastoma NANDO:2200090 Medulloblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007970 melorheostosis NANDO:2201364 Melorheostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0007987 Kniest dysplasia NANDO:2201350 Kniest dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008006 Mobius syndrome NANDO:1200559 Moebius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008006 Mobius syndrome NANDO:2200980 Moebius syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008029 Bethlem myopathy NANDO:1200220 Bethlem Myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008039 tropical spastic paraparesis NANDO:1200206 HTLV-1-associated myelopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008054 juvenile dermatomyositis NANDO:2200418 Juvenile dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008061 nail-patella syndrome NANDO:1200967 Nail-patella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008061 nail-patella syndrome NANDO:2200132 Nail-patella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008082 multiple endocrine neoplasia type 2B NANDO:2201053 Multiple endocrine neoplasia type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008090 cyclic hematopoiesis NANDO:1200354 Cyclic neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008090 cyclic hematopoiesis NANDO:2200746 Cyclic neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008116 oculopharyngeal muscular dystrophy NANDO:1200493 Oculopharyngeal muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008119 spinocerebellar ataxia type 1 NANDO:1200045 Spinocerebellar ataxia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008120 obsolete spinocerebellar ataxia type 7 NANDO:1200047 Spinocerebellar ataxia type 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008145 Ollier disease NANDO:2200049 Osteochondromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008145 Ollier disease NANDO:2201015 Enchondromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008185 hereditary chronic pancreatitis NANDO:1200921 Hereditary pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008185 hereditary chronic pancreatitis NANDO:2200942 Hereditary pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008195 paramyotonia congenita of Von Eulenburg NANDO:1200501 Paramyotonia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008201 Perry syndrome NANDO:1200547 Perry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008218 Hailey-Hailey disease NANDO:1200631 Benign familial pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008219 pemphigus vulgaris NANDO:1200229 Pemphigus vulgaris MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008221 prolidase deficiency NANDO:2200472 Prolidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008222 Andersen-Tawil syndrome NANDO:1200827 Glycogen storage diseases type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008223 hypokalemic periodic paralysis NANDO:1200503 Hereditary hypokalemic periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008224 hyperkalemic periodic paralysis NANDO:1200504 Hereditary hyperkalemic periodic paralysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2200406 Multiple endocrine neoplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2201052 Multiple endocrine neoplasia type 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008260 Kindler syndrome NANDO:1200239 Kindler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008280 Peutz-Jeghers syndrome NANDO:2200917 Peutz-Jeghers syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008283 Cronkhite-Canada syndrome NANDO:1200901 Cronkhite-Canada syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008294 acute intermittent porphyria NANDO:1200812 Acute intermittent porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008294 acute intermittent porphyria NANDO:2201263 Acute intermittent porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008297 variegate porphyria NANDO:1200814 Variegate porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008297 variegate porphyria NANDO:2201265 Variegate porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008300 Prader-Willi syndrome NANDO:1200678 Prader-Willi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008300 Prader-Willi syndrome NANDO:2200411 Prader-Willi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:1201007 Hutchinson-Gilford syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:2200833 Hutchinson-Gilford syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:1200815 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:2201266 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008322 pseudoachondroplasia NANDO:2201018 Pseudoachondroplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008323 Liddle syndrome NANDO:2100131 Liddle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008323 Liddle syndrome NANDO:2200363 Liddle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008332 platelet-type von Willebrand disease NANDO:2200668 Platelet-type von Willebrand disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:1200708 Pulmonary atresia with ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:2200252 Pulmonary atresia with ventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008345 obsolete idiopathic pulmonary fibrosis NANDO:1200417 Idiopathic pulmonary fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008346 pulmonary hemosiderosis NANDO:1200751 Alveolar hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008346 pulmonary hemosiderosis NANDO:2100037 Idiopathic pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008346 pulmonary hemosiderosis NANDO:2200207 Idiopathic pulmonary hemosiderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008367 red cell phospholipid defect with hemolysis NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008380 retinoblastoma NANDO:2200042 Retinoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008428 septooptic dysplasia NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008428 septooptic dysplasia NANDO:1200561 Septo-optic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008428 septooptic dysplasia NANDO:2200820 Septo-optic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008434 Smith-Magenis syndrome NANDO:1200687 Smith-Magenis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008434 Smith-Magenis syndrome NANDO:2200954 Smith-Magenis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008457 spinocerebellar ataxia type 6 NANDO:1200042 Spinocerebellar ataxia type 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008458 spinocerebellar ataxia type 2 NANDO:1200046 Spinocerebellar ataxia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008471 spondyloepiphyseal dysplasia congenita NANDO:2201348 Spondyloepiphyseal dysplasia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008487 polycystic ovary syndrome NANDO:2100149 Polycystic ovary syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008487 polycystic ovary syndrome NANDO:2200409 Polycystic ovary syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008501 Sturge-Weber syndrome NANDO:1200606 Sturge-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008501 Sturge-Weber syndrome NANDO:2200830 Sturge-Weber syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008503 Worster-Drought syndrome NANDO:1200558 Congenital suprabulbar paresis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008504 supravalvular aortic stenosis NANDO:2200285 Supravalvular aortic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008523 Blau syndrome NANDO:1200476 Blau syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008523 Blau syndrome NANDO:2200434 Blau syndrome, early onset sarcoidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008538 temporal arteritis NANDO:1200258 Giant cell arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008538 temporal arteritis NANDO:1200259 Cranial giant cell arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008538 temporal arteritis NANDO:1200260 Large-vessel giant cell arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008542 tetralogy of fallot NANDO:1200709 Tetralogy of Fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008542 tetralogy of fallot NANDO:2100075 Tetralogy of Fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008542 tetralogy of fallot NANDO:2200254 Tetralogy of Fallot MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008546 thanatophoric dysplasia type 1 NANDO:1200875 Thanatophoric dysplasia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008547 thanatophoric dysplasia type 2 NANDO:1200876 Thanatophoric dysplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008555 thrombocytopenia 2 NANDO:2200663 Autosomal dominant thrombocytopenia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008556 thrombocytopenia, cyclic NANDO:2100192 Cyclic thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008556 thrombocytopenia, cyclic NANDO:2200653 Cyclic thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:1200315 Idiopathic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:2200645 Immune thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008564 DiGeorge syndrome NANDO:1200339 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008564 DiGeorge syndrome NANDO:1200688 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008564 DiGeorge syndrome NANDO:2200712 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008608 Down syndrome NANDO:2200965 Down syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008628 ureterocele NANDO:2200183 Ureteroceles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008633 Muckle-Wells syndrome NANDO:1200467 Muckle-Wells syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008633 Muckle-Wells syndrome NANDO:2201067 Muckle-Wells syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008642 VACTERL/vater association NANDO:1200657 VATER syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008642 VACTERL/vater association NANDO:2200983 VATER syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008644 velocardiofacial syndrome NANDO:1200339 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008644 velocardiofacial syndrome NANDO:1200688 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008644 velocardiofacial syndrome NANDO:2200712 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008667 von Hippel-Lindau disease NANDO:2200408 Von Hippel-Lindau disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008667 von Hippel-Lindau disease NANDO:2200829 von Hippel-Lindau disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008674 obsolete WHIM syndrome NANDO:2200767 WHIM syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008678 Williams syndrome NANDO:1200664 Williams syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008678 Williams syndrome NANDO:2200286 Williams syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008682 Denys-Drash syndrome NANDO:2200116 Denys-Drash syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:1200683 4p deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:2200962 4p- Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008685 Wolff-Parkinson-White syndrome NANDO:2200217 Supraventricular tachycardia due to WPW syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008692 abetalipoproteinemia NANDO:1200857 Abetalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008692 abetalipoproteinemia NANDO:2200604 Abetalipoproteinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008695 chorea-acanthocytosis NANDO:1200014 Chorea-acanthocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008702 achondrogenesis type II NANDO:2201345 Achondrogenesis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201345 Achondrogenesis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201346 Hypochondrogenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008713 acrodermatitis enteropathica NANDO:2200584 Acrodermatitis enteropathica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:1200399 21-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:2200374 21-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:1200400 11-β-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:2200372 11-β-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:1200401 17-α-Hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:2200373 17 alpha-hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008737 congenital afibrinogenemia NANDO:2200672 Afibrinogenemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008738 aganglionosis, total intestinal NANDO:1200460 Congenital isolated hypoganglionosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008738 aganglionosis, total intestinal NANDO:2200948 Congenital Isolated Hypoganglionosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008749 pseudohypoparathyroidism type 2 NANDO:1201078 Pseudohypoparathyroidism type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008752 Alexander disease NANDO:1200554 Alexander disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008752 Alexander disease NANDO:2200835 Alexander disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008753 alkaptonuria NANDO:2200504 Alkaptonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008760 beta-ketothiolase deficiency NANDO:1200987 Beta-ketothiolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008760 beta-ketothiolase deficiency NANDO:2200493 Beta-ketothiolase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008777 gelatinous drop-like corneal dystrophy NANDO:1201006 Gelatinous drop-like corneal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008783 Tangier disease NANDO:1200854 Tangier disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008803 Antley-Bixler syndrome NANDO:1200669 Antley-Bixler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008803 Antley-Bixler syndrome NANDO:2200975 Antley-Bixler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008814 hyperargininemia NANDO:1200807 Argininemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008814 hyperargininemia NANDO:2200482 Hyperargininemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008815 argininosuccinic aciduria NANDO:1200806 Argininosuccinic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008815 argininosuccinic aciduria NANDO:2200481 Argininosuccinic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008830 aspartylglucosaminuria NANDO:1200133 Aspartylglucosaminuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008830 aspartylglucosaminuria NANDO:2200555 Aspartylglucosaminuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008840 ataxia telangiectasia NANDO:1200331 Ataxia telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008840 ataxia telangiectasia NANDO:2200705 Ataxia telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia NANDO:1200051 Ataxia-oculomotor apraxia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008846 atransferrinemia NANDO:2100180 Congenital atransferrinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008846 atransferrinemia NANDO:2200617 Congenital atransferrinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:1200753 Congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2100032 Congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2200198 Congenital central hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008855 MHC class II deficiency NANDO:1200329 MHC class II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008855 MHC class II deficiency NANDO:2200702 MHC class II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008863 sitosterolemia NANDO:1200853 Sitosterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008867 biliary atresia NANDO:1200913 Biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008867 biliary atresia NANDO:2200930 biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008876 Bloom syndrome NANDO:1200333 Bloom syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008876 Bloom syndrome NANDO:2200707 Bloom syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008888 Williams-Campbell syndrome NANDO:2201040 Bronchomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008889 thromboangiitis obliterans NANDO:1200266 Buerger's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency NANDO:2200773 CARD9 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:1200972 Carnitine-acylcarnitine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:2200511 Carnitine-acylcarnitine translocase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008919 systemic primary carnitine deficiency disease NANDO:1200973 Systemic primary carnitine deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008919 systemic primary carnitine deficiency disease NANDO:2200508 Organic cation transporter 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008947 bilateral striopallidodentate calcinosis NANDO:1200207 Idiopathic basal ganglia calcification MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008948 cerebrotendinous xanthomatosis NANDO:1200856 Cerebrotendinous xanthomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:1200151 Congenital neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:2201240 Congenital neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008963 Chediak-Higashi syndrome NANDO:1200350 Chédiak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008963 Chediak-Higashi syndrome NANDO:1200639 Chédiak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008963 Chediak-Higashi syndrome NANDO:2200724 Chédiak-Higashi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008965 CHARGE syndrome NANDO:1200464 CHARGE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008965 CHARGE syndrome NANDO:2200972 CHARGE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008974 Greenberg dysplasia NANDO:2201361 Greenberg dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008977 chondrosarcoma NANDO:2200050 Chondrosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008978 chordoma NANDO:2200098 Chordoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008982 central areolar choroidal dystrophy NANDO:1200939 Central areolar choroidal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008988 citrullinemia type I NANDO:1200805 Classic citrullinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008988 citrullinemia type I NANDO:2200480 Argininosuccinate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008996 obsolete COACH syndrome 1 NANDO:1201050 COACH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0008999 Cohen syndrome NANDO:2200750 Cohen syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009006 complement component 2 deficiency NANDO:2200781 C2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009010 aortic arch interruption NANDO:2200288 Interruption of aortic arch complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009025 apparent mineralocorticoid excess NANDO:2100130 Apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009025 apparent mineralocorticoid excess NANDO:2200362 Apparent mineralocorticoid excess syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009026 Costello syndrome NANDO:1200463 Costello syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009026 Costello syndrome NANDO:2200971 Costello syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009031 craniodiaphyseal dysplasia NANDO:2201368 Craniodiaphyseal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009039 Baller-Gerold syndrome NANDO:1201059 Baller-Gerold syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009044 Crigler-Najjar syndrome NANDO:2100272 Crigler-Najjar syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009044 Crigler-Najjar syndrome NANDO:2200941 Crigler-Najjar syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:1200379 Cushing disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:2200350 Cushing disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009061 cystic fibrosis NANDO:1200922 Cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009061 cystic fibrosis NANDO:1201021 Cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009061 cystic fibrosis NANDO:2100035 Cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009061 cystic fibrosis NANDO:2200205 Cystic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009064 ocular cystinosis NANDO:1200164 Non-nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009064 ocular cystinosis NANDO:2201236 Non-nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009066 juvenile nephropathic cystinosis NANDO:1200163 Intermediate cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009066 juvenile nephropathic cystinosis NANDO:2201235 Intermediate cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009067 cystinuria NANDO:2200489 Cystinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009072 Dandy-Walker syndrome NANDO:2200821 Dandy-Walker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly NANDO:1200658 Nasu-Hakola disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009109 lysinuric protein intolerance NANDO:1200809 Lysinuric protein intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009109 lysinuric protein intolerance NANDO:2200488 Lysinuric protein intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009114 congenital sucrase-isomaltase deficiency NANDO:2200908 Congenital sucrase-isomaltase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009116 obsolete lactose intolerance NANDO:2200907 Lactose intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009123 orthostatic hypotension 1 NANDO:2200597 Dopamine beta hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009134 congenital dyserythropoietic anemia type 2 NANDO:1200887 Congenital dyserythropoietic anemia type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009138 dysosteosclerosis NANDO:2201365 Dysosteosclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009141 torsion dystonia 2 NANDO:1200513 Dystonia 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009144 Ebstein anomaly NANDO:1200711 Ebstein's anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009144 Ebstein anomaly NANDO:2100080 Ebstein's anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009144 Ebstein anomaly NANDO:2200260 Ebstein's anomaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009169 endocardial fibroelastosis NANDO:2100060 Endocardial fibroelastosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009169 endocardial fibroelastosis NANDO:2200235 Endocardial fibroelastosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency NANDO:2200910 Enterokinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009176 epidermodysplasia verruciformis NANDO:2200768 Epidermodysplasia verruciformis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:1200238 Recessive dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:1201065 Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2200119 Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2201378 Herlitz junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009194 immunodeficiency 32B NANDO:2200808 Chronic active EB virus infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009218 Farber lipogranulomatosis NANDO:1200086 Farber disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009218 Farber lipogranulomatosis NANDO:2200565 Farber disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009234 congenital high-molecular-weight kininogen deficiency NANDO:2200685 High molecular weight kininogen deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009238 hereditary folate malabsorption NANDO:1200810 Hereditary folate malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009238 hereditary folate malabsorption NANDO:2200592 Hereditary folate malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009249 hereditary fructose intolerance NANDO:2200531 Hereditary fructose intolerance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009251 fructose-1,6-bisphosphatase deficiency NANDO:2200535 Fructose-1,6-bisphosphatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009254 fucosidosis NANDO:1200130 Fucosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009254 fucosidosis NANDO:2200553 Fucosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009255 galactokinase deficiency NANDO:2200533 Galactokinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009257 galactose epimerase deficiency NANDO:2200534 UDP-galactose-4-epimerase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009258 classic galactosemia NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009258 classic galactosemia NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009260 GM1 gangliosidosis type 1 NANDO:1200067 Infantile GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009260 GM1 gangliosidosis type 1 NANDO:2201196 GM1 gangliosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009261 GM1 gangliosidosis type 2 NANDO:1200068 Juvenile GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009261 GM1 gangliosidosis type 2 NANDO:2201197 GM1 gangliosidosis, juvenile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009262 GM1 gangliosidosis type 3 NANDO:1200069 Adult GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009262 GM1 gangliosidosis type 3 NANDO:2201198 GM1 gangliosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009265 Gaucher disease type I NANDO:1200057 Gaucher disease type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009265 Gaucher disease type I NANDO:2201210 Gaucher disease type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009266 Gaucher disease type II NANDO:1200058 Gaucher disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009266 Gaucher disease type II NANDO:2201211 Gaucher disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009267 Gaucher disease type III NANDO:1200059 Gaucher disease type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009267 Gaucher disease type III NANDO:2201212 Gaucher disease type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009276 Bernard-Soulier syndrome NANDO:2200656 Bernard-Soulier syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009279 triple-A syndrome NANDO:1200410 Allgrove syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:1200800 Glutaric acidemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:2200501 Glutaric acidemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:1200801 Glutaric acidemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:2200502 Glutaric acidemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA NANDO:2201153 Glycogen storage disease type 1a MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009288 glycogen storage disease Ib NANDO:1200841 Hepatic glycogen storage disease type Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009288 glycogen storage disease Ib NANDO:2200754 Glycogen storage disease type 1b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009288 glycogen storage disease Ib NANDO:2201154 Glycogen storage disease type 1b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009290 glycogen storage disease II NANDO:1200138 Pompe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009290 glycogen storage disease II NANDO:1200825 Glycogen storage diseases type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009290 glycogen storage disease II NANDO:2200569 Pompe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009291 glycogen storage disease III NANDO:1200826 Glycogen storage diseases type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009291 glycogen storage disease III NANDO:1200844 Hepatic GSD type IIIc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009291 glycogen storage disease III NANDO:1201019 Hepatic glycogen storage disease type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009291 glycogen storage disease III NANDO:2200539 Glycogen storage disease type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200827 Glycogen storage diseases type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200850 Hepatic glycogen storage disease type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:2200540 Glycogen storage disease type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009293 glycogen storage disease V NANDO:1200828 Glycogen storage diseases type V MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009293 glycogen storage disease V NANDO:2200541 Glycogen storage disease type V MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009294 glycogen storage disease VI NANDO:1200846 Hepatic glycogen storage disease type VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009294 glycogen storage disease VI NANDO:2200542 Glycogen storage disease type VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009295 glycogen storage disease VII NANDO:1200823 Muscle glycogen storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009295 glycogen storage disease VII NANDO:1200829 Glycogen storage diseases type VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009295 glycogen storage disease VII NANDO:2200543 Glycogen storage disease type VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009299 46 XX gonadal dysgenesis NANDO:2200384 Ovarian dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200718 Goodpasture syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009303 anti-glomerular basement membrane disease NANDO:2200125 Goodpasture syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NANDO:2201280 p22phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 NANDO:2201281 p47phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NANDO:2201282 p67phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009315 congenital factor XII deficiency NANDO:2200680 Factor XII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009318 Hallermann-Streiff syndrome NANDO:2200973 Hallermann-Streiff syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:2200886 Pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009324 Hartnup disease NANDO:2200487 Hartnup disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009326 congenital heart block NANDO:2200214 Complete atrio-ventricular block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009341 Mowat-Wilson syndrome NANDO:1200663 Mowat-Wilson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009341 Mowat-Wilson syndrome NANDO:2200981 Mowat-Wilson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009352 classic homocystinuria NANDO:1201039 Homocystinuria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency NANDO:1201041 Homocystinuria type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009354 methylcobalamin deficiency type cblE NANDO:2201109 Methylcobalamin deficiency cblE type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:1200803 Carbamoyl phosphate synthetase I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:2200478 Carbamoylphosphate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:1200808 NAGS deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2200477 N-acetylglutamate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009393 ornithine translocase deficiency NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009410 obsolete Addison disease NANDO:1200411 Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009410 obsolete Addison disease NANDO:1200412 Autoimmune Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009410 obsolete Addison disease NANDO:2200359 Other chronic adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009410 obsolete Addison disease NANDO:2200360 Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200346 Autoimmune polyendocrinopathy type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200824 Glycogen storage diseases type 0 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200838 Hepatic glycogen storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2200537 Glycogen synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2201151 Glycogen storage disease type 0a MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:1200614 Harlequin ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:2200992 Harlequin ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:1200337 Schimke syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:2200711 Schimke syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009475 isovaleric acidemia NANDO:1200798 Isovaleric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009475 isovaleric acidemia NANDO:2200494 Isovaleric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009480 Joubert syndrome with oculorenal defect NANDO:1200662 Arima syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009499 Krabbe disease NANDO:1200074 Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009499 Krabbe disease NANDO:2200564 Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009509 Landau-Kleffner syndrome NANDO:1200602 Landau-Kleffner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009515 Norum disease NANDO:1200852 Lecithin cholesterol acyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2200497 3-hydroxy-3-methylglutaric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009530 lipoid proteinosis NANDO:2200608 Lipoid proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009532 Miller-Dieker lissencephaly syndrome NANDO:1201083 Miller Dieker syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009537 lymphoid interstitial pneumonia NANDO:1200424 Lymphoid interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009561 alpha-mannosidosis NANDO:1200126 Alpha-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009562 beta-mannosidosis NANDO:1200129 Beta-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009562 beta-mannosidosis NANDO:2201190 Beta-mannosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009563 maple syrup urine disease NANDO:1200791 Maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009563 maple syrup urine disease NANDO:2200473 Maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009567 Marinesco-Sjogren syndrome NANDO:1200485 Marinesco-Sjogren syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009572 autosomal recessive familial Mediterranean fever NANDO:1200864 Typical familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009578 neurocutaneous melanocytosis NANDO:2200827 Neurocutaneous melanosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:1200082 Saposin B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:2201205 Saposin B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:1200080 Juvenile ｍetachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:2201203 Metachromatic leukodystrophy, juvenile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009609 methylcobalamin deficiency type cblG NANDO:2201111 Methylcobalamin deficiency cblG type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009610 3-methylglutaconic aciduria type 1 NANDO:1200990 3-methylglutaconic aciduria type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009613 methylmalonic aciduria, cblA type NANDO:1200795 Methylmalonic acidemia cblA type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009613 methylmalonic aciduria, cblA type NANDO:2201105 Methylmalonic acidemia cblA type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009614 methylmalonic aciduria, cblB type NANDO:1200796 Methylmalonic acidemia cblB type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009614 methylmalonic aciduria, cblB type NANDO:2201106 Methylmalonic acidemia cblB type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009623 Nijmegen breakage syndrome NANDO:1200332 Nijmegen breakage syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009623 Nijmegen breakage syndrome NANDO:2200706 Nijmegen breakage syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009627 Galloway-Mowat syndrome NANDO:1200713 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009627 Galloway-Mowat syndrome NANDO:2200120 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009627 Galloway-Mowat syndrome NANDO:2201385 Galloway-Mowat syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009635 microvillus inclusion disease NANDO:2100255 Microvillus inclusion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009635 microvillus inclusion disease NANDO:2200913 Microvillus inclusion disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009641 obsolete mitochondrial complex II deficiency NANDO:1200181 Mitochondrial complex II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009650 mucolipidosis type II NANDO:1200124 Mucolipidosis II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009650 mucolipidosis type II NANDO:2200567 Mucolipidosis II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009655 mucopolysaccharidosis type 3A NANDO:1200101 Sanfilippo disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009655 mucopolysaccharidosis type 3A NANDO:2201174 Mucopolysaccharidosis type III A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009656 mucopolysaccharidosis type 3B NANDO:1200102 Sanfilippo disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009656 mucopolysaccharidosis type 3B NANDO:2201175 Mucopolysaccharidosis type III B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009657 mucopolysaccharidosis type 3C NANDO:1200103 Sanfilippo disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009657 mucopolysaccharidosis type 3C NANDO:2201176 Mucopolysaccharidosis type III C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009658 mucopolysaccharidosis type 3D NANDO:1200104 Sanfilippo disease type D MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009658 mucopolysaccharidosis type 3D NANDO:2201177 Mucopolysaccharidosis type III D MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009659 mucopolysaccharidosis type 4A NANDO:1200106 Morquio syndrome type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009659 mucopolysaccharidosis type 4A NANDO:2201178 Mucopolysaccharidosis type IV A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009660 mucopolysaccharidosis type 4B NANDO:1200107 Morquio syndrome type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009660 mucopolysaccharidosis type 4B NANDO:2201179 Mucopolysaccharidosis type IV B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200108 Maroteaux-Lamy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009661 mucopolysaccharidosis type 6 NANDO:2200551 Mucopolysaccharidosis type VI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009662 mucopolysaccharidosis type 7 NANDO:1200111 Sly syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009662 mucopolysaccharidosis type 7 NANDO:2200552 Mucopolysaccharidosis type VII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009665 biotinidase deficiency NANDO:1200822 Biotinidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009666 holocarboxylase synthetase deficiency NANDO:1200821 Holocarboxylase synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009669 spinal muscular atrophy, type 1 NANDO:1200004 Spinal muscular atrophy type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009672 spinal muscular atrophy, type III NANDO:1200006 Spinal muscular atrophy type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009673 spinal muscular atrophy, type II NANDO:1200005 Spinal muscular atrophy type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:1200494 Fukuyama type congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:2200860 Fukuyama type congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009681 Ullrich congenital muscular dystrophy 1 NANDO:1200215 Ullrich disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009685 Miyoshi myopathy NANDO:1200217 Miyoshi myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009688 myasthenia gravis NANDO:1200020 Myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009688 myasthenia gravis NANDO:2100252 Myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009688 myasthenia gravis NANDO:2200906 Myasthenia gravis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009689 congenital myasthenic syndrome 6 NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009694 myeloperoxidase deficiency NANDO:1200358 Myeloperoxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009694 myeloperoxidase deficiency NANDO:2200758 Myeloperoxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009697 Lafora disease NANDO:1200955 Lafora disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009697 Lafora disease NANDO:2200881 Lafora disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009698 Unverricht-Lundborg syndrome NANDO:1200954 Unverricht-Lundborg disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009698 Unverricht-Lundborg syndrome NANDO:2200880 Unverricht-Lundborg disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:1200970 Carnitine palmitoyltransferase I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:2200509 Carnitine palmitoyltransferase I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009710 Thomsen and Becker disease NANDO:1200497 Myotonia congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009710 Thomsen and Becker disease NANDO:1200498 Thomsen disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:1200483 Congenital fiber-type disproportion myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:2200868 Congenital fiber-type disproportion myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia NANDO:2200872 Minicore myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009715 myotonia congenita, autosomal recessive NANDO:1200499 Becker disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009717 Schwartz-Jampel syndrome NANDO:1200224 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009717 Schwartz-Jampel syndrome NANDO:2100235 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009717 Schwartz-Jampel syndrome NANDO:2200876 Schwartz-Jampel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009723 Leigh syndrome NANDO:1200175 Leigh's encephalomyelopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009723 Leigh syndrome NANDO:2200527 Leigh syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:1200867 Nakajo-Nishimura syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:2200435 Nakajo-Nishimura syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009728 nephronophthisis 1 NANDO:1201036 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009728 nephronophthisis 1 NANDO:2200140 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009732 congenital nephrotic syndrome, Finnish type NANDO:2200110 Congenital nephrotic syndrome of the Finnish type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009735 Netherton syndrome NANDO:1200338 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009735 Netherton syndrome NANDO:1200619 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009735 Netherton syndrome NANDO:2200993 Netherton syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009737 galactosialidosis NANDO:1200119 Galactosialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009737 galactosialidosis NANDO:2200557 Galactosialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009738 sialidosis type 2 NANDO:1200118 Sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009738 sialidosis type 2 NANDO:1200120 Galactosialidosis, early infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009738 sialidosis type 2 NANDO:2201192 Sialidosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009738 sialidosis type 2 NANDO:2201193 Galactosialidosis, early infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009739 obsolete infantile neuroaxonal dystrophy NANDO:2200887 Infantile neuroaxonal dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:1200152 Infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:2201241 Infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:1200553 Congenital insensitivity to pain with anhidrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:2200854 Congenital insensitivity to pain with anhidrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009756 Niemann-Pick disease type A NANDO:1200061 Niemann-Pick disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009756 Niemann-Pick disease type A NANDO:2201206 Niemann-Pick disease type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009763 obesity-hypoventilation syndrome NANDO:1200752 Obesity hypoventilation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009774 cloacal exstrophy NANDO:1200909 Cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009774 cloacal exstrophy NANDO:1200910 Persistent cloaca MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009774 cloacal exstrophy NANDO:2200950 Persistent cloaca MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009774 cloacal exstrophy NANDO:2200951 Cloacal exstrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009787 3-methylglutaconic aciduria type 3 NANDO:1200992 3-methylglutaconic aciduria type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200484 Hyperornithinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200486 Gyrate atrophy of choroid and retina MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009797 orotic aciduria NANDO:2200590 Orotic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009799 obsolete pachydermoperiostosis NANDO:1200642 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009799 obsolete pachydermoperiostosis NANDO:2100288 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009799 obsolete pachydermoperiostosis NANDO:2201004 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009807 osteosarcoma NANDO:2200048 Osteosarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:1200869 Chronic recurrent multifocal osteomyelitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:2200438 Chronic recurrent multifocal osteomyelitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009823 primary hyperoxaluria type 1 NANDO:1200773 Primary hyperoxaluria type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009833 Shwachman-Diamond syndrome NANDO:1200356 Shwachman-Diamond syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009833 Shwachman-Diamond syndrome NANDO:2200756 Shwachman-Diamond syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200195 Subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200196 Typical subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200198 Subacute progressive sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009835 subacute sclerosing panencephalitis NANDO:2100245 Subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009835 subacute sclerosing panencephalitis NANDO:2200899 Subacute sclerosing panencephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009837 choroid plexus papilloma NANDO:2200093 Choroid plexus papilloma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:1200866 Hyper IgD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:2200436 Hyper IgD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009855 d-bifunctional protein deficiency NANDO:1200766 D-bifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009861 phenylketonuria NANDO:1200784 Phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009861 phenylketonuria NANDO:1200785 Phenylalanine hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009861 phenylketonuria NANDO:2200467 Phenylketonuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009861 phenylketonuria NANDO:2201075 Phenylalanine hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency NANDO:1200832 Glycogen storage diseases type X MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009868 glycogen storage disease IXb NANDO:1200848 Hepatic glycogen storage disease type IXb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009868 glycogen storage disease IXb NANDO:2201165 Glycogen storage disease type IXb MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009883 alpha-2-plasmin inhibitor deficiency NANDO:2200687 Alpha-2-plasmin inhibitor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009885 Scott syndrome NANDO:2200671 Scott syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009887 desquamative interstitial pneumonia NANDO:1200422 Desquamative interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009887 desquamative interstitial pneumonia NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:1200369 Autosomal recessive polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:2200154 Autosomal recessive polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009891 acquired polycythemia vera NANDO:2100186 Polycythemia vera MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009891 acquired polycythemia vera NANDO:2200643 Polycythemia vera MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009897 adult polyglucosan body disease NANDO:2201163 Glycogen storage disease type IV, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009902 cutaneous porphyria NANDO:1200817 Congenital erythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009902 cutaneous porphyria NANDO:2201268 Congenital erythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009904 Gitelman syndrome NANDO:2100020 Gitelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009904 Gitelman syndrome NANDO:2200145 Gitelman syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency NANDO:2200389 5 alpha-reductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009924 vitamin D-dependent rickets, type 1 NANDO:1200782 Vitamin D-dependent rickets, type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009928 pulmonary alveolar microlithiasis NANDO:2200202 Pulmonary alveolar microlithiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009930 obsolete pulmonary arteriovenous malformation NANDO:2200295 Pulmonary arteriovenous fistulae MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:1200707 Pulmonary atresia with intact ventricular septum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:2200253 Pulmonary atresia with intact ventricular septum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009937 pulmonary venoocclusive disease NANDO:1200427 Pulmonary veno-occlusive disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009940 pycnodysostosis NANDO:2201023 Pycnodysostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009943 Pyle disease NANDO:2201367 Metaphyseal dysplasias MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009948 pyropoikilocytosis, hereditary NANDO:2200631 Hereditary pyropoikilocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009949 pyruvate carboxylase deficiency disease NANDO:2200519 Pyruvate carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009950 pyruvate kinase deficiency of red cells NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009955 rapadilino syndrome NANDO:1201058 RAPADILINO syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009958 adult Refsum disease NANDO:1200769 Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009958 adult Refsum disease NANDO:2200577 Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009973 reticular dysgenesis NANDO:1200322 Reticular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0009973 reticular dysgenesis NANDO:2200695 Reticular dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010002 Rothmund-Thomson syndrome NANDO:1200671 Rothmund-Thomson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010006 Sandhoff disease NANDO:1200072 Sandhoff disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010006 Sandhoff disease NANDO:2201200 Sandhoff disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010011 schizencephaly NANDO:1201073 Schizencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010011 schizencephaly NANDO:2200818 Schizencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010012 autoimmune polyendocrinopathy type 2 NANDO:2200347 Autoimmune polyendocrinopathy type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:1200327 Zap-70 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:2200700 ZAP-70 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010027 free sialic acid storage disease, infantile form NANDO:1200147 Infantile free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010027 free sialic acid storage disease, infantile form NANDO:2201237 Infantile free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010030 Sjogren syndrome NANDO:1200279 Sjogren's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010030 Sjogren syndrome NANDO:1200280 Primary Sjogren's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010030 Sjogren syndrome NANDO:2200420 Sjogren's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010031 Sjogren-Larsson syndrome NANDO:1200620 Sjögren-Larsson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010031 Sjogren-Larsson syndrome NANDO:2200994 Sjögren-Larsson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:1200961 Smith-lemli-opitz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:2200979 Smith-Lemli-Opitz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010038 growth delay due to insulin-like growth factor I resistance NANDO:2200320 IGF1 insensitivity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010056 spinal muscular atrophy, type IV NANDO:1200007 Spinal muscular atrophy type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010066 familial isolated congenital asplenia NANDO:2200775 Isolated congenital asplenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010078 spondyloperipheral dysplasia NANDO:2201351 Spondyloperipheral dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010079 Canavan disease NANDO:1200948 Canavan disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010079 Canavan disease NANDO:2200834 Canavan disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010088 mucosulfatidosis NANDO:1200083 Multiple sulfatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010088 mucosulfatidosis NANDO:1200624 Multiple sulfatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010088 mucosulfatidosis NANDO:2200566 Multiple sulfatase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010089 isolated sulfite oxidase deficiency NANDO:2200583 Sulfite oxidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010099 Tay-Sachs disease AB variant NANDO:1200073 GM2 gangliosidosis AB variant MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010099 Tay-Sachs disease AB variant NANDO:2201201 GM2 gangliosidosis AB variant MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010100 Tay-Sachs disease NANDO:1200071 Tay-Sachs disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010100 Tay-Sachs disease NANDO:2201199 Tay-Sachs disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200657 Thrombasthenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200664 ITGA2B/ITGB3 mutations MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010121 thrombocytopenia-absent radius syndrome NANDO:2200661 Thrombocytopenia with absent radii MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010122 congenital thrombotic thrombocytopenic purpura NANDO:1200317 Congenital thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:1200395 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2100121 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2200341 Resistance to thyroid hormone MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010155 Dorfman-Chanarin disease NANDO:1200622 Dorfman-Chanarin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010155 Dorfman-Chanarin disease NANDO:1200623 Neutral lipid storage disease with ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010155 Dorfman-Chanarin disease NANDO:2200997 Dorfman-Chanarin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010160 tyrosinemia type II NANDO:1200789 Tyrosinemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010160 tyrosinemia type II NANDO:2200469 Tyrosinemia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010161 tyrosinemia type I NANDO:1200788 Tyrosinemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010161 tyrosinemia type I NANDO:2200468 Tyrosinemia type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010162 tyrosinemia type III NANDO:1200790 Tyrosinemia type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010162 tyrosinemia type III NANDO:2200470 Tyrosinemia type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010168 Usher syndrome type 1 NANDO:1200942 Usher syndrome type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:1201040 Homocystinuria type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:1200797 Methylmalonic acidemia CblD type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:2201108 Methylmalonic acidemia CblD type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010188 familial isolated deficiency of vitamin E NANDO:1200050 Ataxia with isolated vitamin E deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010193 Weaver syndrome NANDO:1200659 Weaver syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010193 Weaver syndrome NANDO:2200957 Weaver syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010196 Werner syndrome NANDO:1200676 Werner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010196 Werner syndrome NANDO:2200831 Werner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010200 Wilson disease NANDO:1200655 Wilson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010200 Wilson disease NANDO:2200579 Wilson disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010226 46,XY sex reversal 2 NANDO:1200404 DAX1 abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010246 developmental and epileptic encephalopathy, 9 NANDO:1200599 PCDH19-related syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:1200166 Childhood cerebral adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:2201246 Childhood cerebral adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:1200403 Congenital adrenal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:2200357 Congenital adrenal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010281 Danon disease NANDO:1200145 Danon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010281 Danon disease NANDO:1200222 Danon disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010283 syndromic X-linked intellectual disability Lubs type NANDO:2200984 MECP2 duplication syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010294 X-linked severe congenital neutropenia NANDO:2200753 X linked severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010298 Lesch-Nyhan syndrome NANDO:2200586 Lesch-Nyhan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010305 creatine transporter deficiency NANDO:1201035 Creatine transporter deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010305 creatine transporter deficiency NANDO:2201301 SLC6A8 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010311 Becker muscular dystrophy NANDO:1200489 Becker muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010311 Becker muscular dystrophy NANDO:2200865 Becker muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:1200321 X-linked severe combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:2200694 X-linked severe combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:1200580 Allan-Herndon-Dudley syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:2201292 Allan-Herndon-Dudley syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010362 glycogen storage disease IXd NANDO:1200830 Glycogen storage diseases type IXd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010362 glycogen storage disease IXd NANDO:2201167 Glycogen storage disease type IXd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200690 Fragile X syndrome related diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200691 Fragile X tremor/ataxia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010383 fragile X syndrome NANDO:1200692 Fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010383 fragile X syndrome NANDO:2100224 Fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010383 fragile X syndrome NANDO:2200840 Fragile X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency NANDO:2201279 gp91phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency NANDO:1200831 Phosphoglycerate kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:1200818 X-linked dominant protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:2201269 X-linked dominant protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010421 Bruton-type agammaglobulinemia NANDO:1200343 X-linked agammaglobulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010421 Bruton-type agammaglobulinemia NANDO:2200716 X-linked agammaglobulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010434 synovial sarcoma NANDO:2200061 Synovial sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010518 Wiskott-Aldrich syndrome NANDO:1200330 Wiskott-Aldrich syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010518 Wiskott-Aldrich syndrome NANDO:2200704 Wiskott-Aldrich syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:1200665 ATR-X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2100223 ATR-X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2200839 ATR-X syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010526 Fabry disease NANDO:1200157 Fabry disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010526 Fabry disease NANDO:2200563 Fabry disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010543 Barth syndrome NANDO:1200991 3-methylglutaconicaciduria type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010543 Barth syndrome NANDO:2200751 Barth syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201360 Brachytelephalangic chondrodysplasia punctata MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010561 Coffin-Lowry syndrome NANDO:1200660 Coffin-Lowry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010561 Coffin-Lowry syndrome NANDO:2200952 Coffin-Lowry syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010568 Aicardi syndrome NANDO:1200562 Aicardi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010572 occipital horn syndrome NANDO:1200654 Occipital horn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010572 occipital horn syndrome NANDO:2200581 Occipital horn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome NANDO:2200924 IPEX syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010598 glycogen storage disease IXa1 NANDO:1200847 Hepatic glycogen storage disease type IXa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010598 glycogen storage disease IXa1 NANDO:2201164 Glycogen storage disease type IXa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010602 hemophilia A NANDO:2200676 Hemophilia A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010604 hemophilia B NANDO:2200677 Hemophilia B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010613 inborn glycerol kinase deficiency NANDO:2200505 Glycerol kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010619 X-linked dominant hypophosphatemic rickets NANDO:1200779 Vitamin D-resistant rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010621 CHILD syndrome NANDO:1200629 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010621 CHILD syndrome NANDO:2200998 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010621 CHILD syndrome NANDO:2201358 CHILD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010622 recessive X-linked ichthyosis NANDO:1200625 Recessive X-linked ichtyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:1200351 X-linked lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:2200725 X-linked lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010631 incontinentia pigmenti NANDO:2200974 Incontinentia pigmenti MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010645 oculocerebrorenal syndrome NANDO:2100028 Lowe syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010645 oculocerebrorenal syndrome NANDO:2200188 Lowe syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010651 Menkes disease NANDO:1200653 Menkes disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010651 Menkes disease NANDO:2200580 Menkes disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010674 mucopolysaccharidosis type 2 NANDO:1200097 Hunter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010674 mucopolysaccharidosis type 2 NANDO:2200548 Mucopolysaccharidosis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010679 Duchenne muscular dystrophy NANDO:1200488 Duchenne muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010679 Duchenne muscular dystrophy NANDO:2200856 Duchenne muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010684 X-linked myopathy with excessive autophagy NANDO:1200223 X-linked Myopathy with excessive autophagy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:1200804 Ornithine transcarbamylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:2200479 Ornithine transcarbamylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010713 properdin deficiency, X-linked NANDO:2200789 Properdin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:1200576 Pelizaeus-Merzbacher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:2201288 Pelizaeus-Merzbacher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010725 X-linked retinoschisis NANDO:1200938 X-linked juvenile retinoschisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010726 Rett syndrome NANDO:1200603 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010726 Rett syndrome NANDO:1200604 Typical Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010726 Rett syndrome NANDO:2100219 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010726 Rett syndrome NANDO:2200825 Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010731 Simpson-Golabi-Behmel syndrome NANDO:2200978 Simpson-Golabi-Behmel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010735 Kennedy disease NANDO:1200001 Spinal and bulbar muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010747 X-linked dystonia-parkinsonism NANDO:1200514 Dystonia 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010778 cyclic vomiting syndrome NANDO:2100258 Cyclic vomiting syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010778 cyclic vomiting syndrome NANDO:2200919 Cyclic vomiting syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010787 Kearns-Sayre syndrome NANDO:1201064 Kearns-Sayre syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010787 Kearns-Sayre syndrome NANDO:2200529 Kearns-Sayre syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200178 Leber hereditary optic neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200940 Leber hereditary optic neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010789 MELAS syndrome NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010789 MELAS syndrome NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010790 MERRF syndrome NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010790 MERRF syndrome NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010808 fatal familial insomnia NANDO:1200191 Fatal familial insomnia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010829 CARASIL syndrome NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010857 semantic dementia NANDO:1200550 Semantic dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010894 maturity-onset diabetes of the young type 3 NANDO:2201071 Maturity-onset diabetes of the young type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010911 prolactin-producing pituitary gland adenoma NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010913 Caroli disease NANDO:2200934 Caroli disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010931 vitamin D-dependent rickets, type 2B NANDO:1200779 Vitamin D-resistant rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010940 inherited susceptibility to asthma NANDO:2100031 Bronchial asthma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010940 inherited susceptibility to asthma NANDO:2200197 Bronchial asthma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010947 Budd-Chiari syndrome NANDO:1200437 Budd-Chiari syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0010983 dystonia 9 NANDO:1200520 Dystonia 9 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011014 pleuropulmonary blastoma NANDO:2200080 Pleuropulmonaryblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011093 mucopolysaccharidosis type 9 NANDO:1200115 Hyaluronidase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011147 chromosome 18q deletion syndrome NANDO:1200579 18q-syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011147 chromosome 18q deletion syndrome NANDO:2201291 18q-syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011200 torsion dystonia 7 NANDO:1200518 Dystonia 7 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011230 ossification of the posterior longitudinal ligament of the spine NANDO:1200371 Ossification of posterior longitudinal ligament MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome NANDO:2200823 Megalencephaly-capillary malformation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011264 torsion dystonia 6 NANDO:1200517 Dystonia 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011269 psoriasis 2 NANDO:2200443 CARD14 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011273 H syndrome NANDO:2200457 SLC29A3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011281 congenital myasthenic syndrome 5 NANDO:1201056 End-plate acetylcholine esterase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011301 pseudohypoparathyroidism type 1B NANDO:1201076 Pseudohypoparathyroidism type 1B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011326 citrullinemia, type II, adult-onset NANDO:1200980 Adult-onset type II citrullinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 NANDO:2200730 Syntaxin 11 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 NANDO:2200728 Perforin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011338 Omenn syndrome NANDO:1200324 Omenn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011338 Omenn syndrome NANDO:2200697 Omenn syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011340 congenital tracheal stenosis NANDO:1201003 Congenital tracheal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:1200681 Young-Simpson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:2200982 Young-Simpson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:1200951 Vanishing white matter disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:2200838 Vanishing white matter disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011382 sickle cell anemia NANDO:2200624 Sickle cell disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011399 alpha thalassemia NANDO:2201273 α-thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011405 poikiloderma with neutropenia NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011426 aceruloplasminemia NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011426 aceruloplasminemia NANDO:2200582 Aceruloplasminemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011429 juvenile idiopathic arthritis NANDO:1200469 Juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011429 juvenile idiopathic arthritis NANDO:2200415 Juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011449 Salla disease NANDO:1200149 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011449 Salla disease NANDO:1200582 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011449 Salla disease NANDO:2201294 Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011469 congenital amegakaryocytic thrombocytopenia NANDO:2200651 Congenital amegakaryocytic thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011476 MHC class I deficiency NANDO:1200328 MHC class I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011476 MHC class I deficiency NANDO:2200701 MHC class I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011514 tricuspid atresia NANDO:1200706 Tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011514 tricuspid atresia NANDO:1200962 Congenital tricuspid stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011514 tricuspid atresia NANDO:2100073 Tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011514 tricuspid atresia NANDO:2200251 Tricuspid atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011603 GNE myopathy NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011612 glycine encephalopathy NANDO:1200984 Nonketotic hyperglycinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011612 glycine encephalopathy NANDO:2200476 Nonketotic hyperglycinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011628 propionic acidemia NANDO:1200792 Propionic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011628 propionic acidemia NANDO:2200492 Propionic acidemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011638 neuroferritinopathy NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011638 neuroferritinopathy NANDO:1200542 Neuroferritinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011655 alveolar soft part sarcoma NANDO:2200063 Alveolar soft part sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011664 immunodeficiency due to CD25 deficiency NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011667 maturity-onset diabetes of the young type 4 NANDO:2201072 Maturity-onset diabetes of the young type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011705 lymphangioleiomyomatosis NANDO:1200430 Lymphangioleiomyomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:1200799 Glucose transporter 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:2200545 Glucose transporter 1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011730 fumaric aciduria NANDO:2200520 Fumarase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011731 glucose-galactose malabsorption NANDO:2200909 Glucose-galactose malabsorption MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011758 Hurler syndrome NANDO:1200094 Hurler syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011758 Hurler syndrome NANDO:2201168 Hurler Disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011759 Hurler-Scheie syndrome NANDO:1200096 Hurler-Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011759 Hurler-Scheie syndrome NANDO:2201170 Hurler-Scheie disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011760 Scheie syndrome NANDO:1200095 Scheie syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011760 Scheie syndrome NANDO:2201169 Scheie disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011776 CINCA syndrome NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011776 CINCA syndrome NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B NANDO:2200740 Caspase-8 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011826 glucocorticoid deficiency 2 NANDO:1200409 MRAP deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011827 patent ductus arteriosus NANDO:2100084 Patent ductus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011827 patent ductus arteriosus NANDO:2200264 Patent ductus arteriosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011844 myoclonic dystonia 15 NANDO:1200528 Dystonia 15 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011849 psoriatic arthritis NANDO:2201059 Psoriatic juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011871 Niemann-Pick disease type B NANDO:1200062 Niemann-Pick disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011871 Niemann-Pick disease type B NANDO:2201207 Niemann-Pick disease type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011872 Griscelli syndrome type 2 NANDO:2200732 Griscelli syndrome type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011886 torsion dystonia 13 NANDO:1200527 Dystonia 13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011888 immunodeficiency 67 NANDO:1200361 IRAK4 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011888 immunodeficiency 67 NANDO:2200762 IRAK4 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200014 Chronic myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200015 Juvenile myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A NANDO:2200861 Merosin-deficient congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011929 chromosome 1p36 deletion syndrome NANDO:1200682 1p36 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011975 paternal uniparental disomy of chromosome 14 NANDO:1200685 Paternal uniparental disomy of chromosome 14 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive NANDO:2200013 Chronic myeloid leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0011997 Hermansky-Pudlak syndrome 2 NANDO:2200733 Hermansky-Pudlak syndrome type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012104 acquired partial lipodystrophy NANDO:1200862 Acquired partial lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012105 granulomatosis with polyangiitis NANDO:1200263 Granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012105 granulomatosis with polyangiitis NANDO:1201009 Systemic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012105 granulomatosis with polyangiitis NANDO:2200424 Granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012126 familial avascular necrosis of femoral head NANDO:1200373 Idiopathic osteonecrosis of femoral head MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 NANDO:2200729 UNC13D/Munc13-4 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:1200326 CD8 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:2200699 CD8 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:1200974 Trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2200515 Trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2201147 Presymptomatic trifunctional protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012176 Emanuel syndrome NANDO:1200689 Emanuel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012184 Pierson syndrome NANDO:2200117 Pierson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012197 idiopathic aplastic anemia NANDO:1200296 Idiopathic aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012197 idiopathic aplastic anemia NANDO:2201276 Idiopathic aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012198 PCWH syndrome NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012198 PCWH syndrome NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012206 Czech dysplasia, metatarsal type NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 NANDO:1200135 Schindler disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 NANDO:1200136 Schindler disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012268 AIDS NANDO:2100212 Acquired immune deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012268 AIDS NANDO:2200809 Acquired immune deficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012295 complement component 5 deficiency NANDO:2200783 C5 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012316 Majeed syndrome NANDO:2200453 Majeed syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012350 complement factor H deficiency NANDO:2200791 Factor H deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012354 platelet-type bleeding disorder 8 NANDO:2200669 ADP receptor deficiencies MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency NANDO:2200771 MCM4 mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012412 complement component 7 deficiency NANDO:2200785 C7 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012429 Aicardi-Goutieres syndrome 2 NANDO:2200894 Aicardi-Goutieres syndrome 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012444 neurodegeneration with brain iron accumulation 2B NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012455 Kleefstra syndrome NANDO:1200959 9q34 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012471 Aicardi-Goutieres syndrome 3 NANDO:2200895 Aicardi-Goutieres syndrome 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012481 mevalonic aciduria NANDO:1200866 Hyper IgD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:1200584 Hypomyelination and congenital cataract MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:2201296 Hypomyelination and congenital cataract MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012521 herpes simplex encephalitis NANDO:2200772 Herpes simplex encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency NANDO:2200752 P14 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200747 Autoimmune pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200748 Idiopathic pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200746 Pulmonary alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200750 Congenital alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:2200200 Congenital alveolar proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 NANDO:2200801 CD21 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012594 complement factor I deficiency NANDO:2200790 Factor I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012594 complement factor I deficiency NANDO:2200798 Factor I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012603 episodic kinesigenic dyskinesia 2 NANDO:1200532 Dystonia 19 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 NANDO:1200533 Dystonia 20 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency NANDO:2201152 Glycogen storage disease type 0b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200449 NLRP12-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200454 NLRP12-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012725 lipoprotein glomerulopathy NANDO:2200134 Lipoprotein glomerulopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012747 glycogen storage disease due to aldolase A deficiency NANDO:1200834 Glycogen storage diseases type XII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012764 RIDDLE syndrome NANDO:1200336 RIDDLE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012764 RIDDLE syndrome NANDO:2200710 RIDDLE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012789 dystonia 16 NANDO:1200529 Dystonia 16 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 NANDO:1200531 Dystonia 18 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012817 Ewing sarcoma NANDO:2200053 Ewing's sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:1200581 Mitochondrial Hsp60 chaperonopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:2201293 Mitochondrial Hsp60 chaperonopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:1200362 MyD88 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:2200763 MyD88 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012858 primary CD59 deficiency NANDO:2200804 Primary CD59 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012866 hereditary spastic paraplegia 35 NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012883 acute promyelocytic leukemia NANDO:2200007 Acute promyelocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012895 torsion dystonia 17 NANDO:1200530 Dystonia 17 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012901 inherited prekallikrein deficiency NANDO:2200684 Congenital prekallikrein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012908 complement component 6 deficiency NANDO:2200784 C6 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012911 pseudohypoparathyroidism type 1C NANDO:1201077 Pseudohypoparathyroidism type 1C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012912 pseudopseudohypoparathyroidism NANDO:2200348 Pseudopseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012941 inflammatory bowel disease 25 NANDO:2200448 IL-10RB deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency NANDO:1200982 Sepiapterin reductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012996 AGAT deficiency NANDO:1201033 Arginine:glycine amidinotransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012996 AGAT deficiency NANDO:2201299 AGAT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:1201034 Guanidinoacetate methyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:2201300 GAMT deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013024 chronic thromboembolic pulmonary hypertension NANDO:1200429 Chronic thromboembolic pulmonary hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly NANDO:2200803 CD46 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency NANDO:1200835 Glycogen storage diseases type XIII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency NANDO:1200833 Glycogen storage diseases type XI MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013059 Aicardi-Goutieres syndrome 5 NANDO:2200897 Aicardi-Goutieres syndrome 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013066 46,XY sex reversal 3 NANDO:1200405 SF-1 abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013081 lymphoproliferative syndrome 1 NANDO:2200734 IL-2-inducible T-cell kinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013091 glycogen storage disease IXc NANDO:1200849 Hepatic glycogen storage disease type IXc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013091 glycogen storage disease IXc NANDO:2201166 Glycogen storage disease type IXc MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 NANDO:2200731 STXBP2/Munc18-2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related NANDO:2200667 β-1 tubulin disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013153 inflammatory bowel disease 28 NANDO:2200447 IL-10RA deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013166 GABA aminotransaminase deficiency NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:1200325 Purine nucleoside phosphorylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:2200698 Purine nucleoside phosphorylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation NANDO:2200866 LMNA-related congenital muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:1200755 Alpha-1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2100174 Alpha-1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2200611 Alpha-1-antitrypsin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013291 glycogen storage disease XV NANDO:1200837 Glycogen storage diseases type XV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:1200402 P450 oxidoreductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:2200375 P450 oxidoreductase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013316 occult macular dystrophy NANDO:1200934 Occult macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013343 C1Q deficiency NANDO:2200777 C1q deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013361 congenital prothrombin deficiency NANDO:2200673 Hypoprothrombinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013391 sterol carrier protein 2 deficiency NANDO:1200767 Sterol carrier protein 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013408 FADD-related immunodeficiency NANDO:2200741 Fas-associated death domain protein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013417 complement component 3 deficiency NANDO:2200782 C3 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013419 complement component C1s deficiency NANDO:2200779 C1s deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013423 immunodeficiency due to MASP-2 deficiency NANDO:2200793 MASP2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013433 primary sclerosing cholangitis NANDO:1200440 Primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013433 primary sclerosing cholangitis NANDO:2100265 Primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013445 complement component 9 deficiency NANDO:2200787 C9 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013467 immunodeficiency due to ficolin3 deficiency NANDO:2200794 Ficolin 3 Deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency NANDO:2200788 Factor D deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NANDO:2201283 p40phox-deficient chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013571 acatalasia NANDO:1200774 Acatalasemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency NANDO:2200719 Isolated IgG subclass deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013594 spinocerebellar ataxia type 36 NANDO:1200048 Spinocerebellar ataxia type 36 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013623 platelet-type bleeding disorder 11 NANDO:2200670 Abnormalities in platelet collagen receptors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013626 psoriasis 14, pustular NANDO:1200244 Acrodermatitis continua of Hallopeau MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013626 psoriasis 14, pustular NANDO:2200452 IL36RN deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013674 neurodegeneration with brain iron accumulation 4 NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency NANDO:2200912 Lipase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013766 familial cold autoinflammatory syndrome 3 NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013851 autosomal dominant aplasia and myelodysplasia NANDO:1200301 Borderline between aplastic anemia and MDS MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013862 immunodeficiency, common variable, 7 NANDO:2200801 CD21 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013869 adenine phosphoribosyltransferase deficiency NANDO:2200587 Adenine phosphoribosyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013873 IMAGe syndrome NANDO:1200406 IMAge syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200451 PLCg2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0013968 PGM1-congenital disorder of glycosylation NANDO:1200836 Glycogen storage diseases type XIV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis NANDO:1200726 Primary membranoproliferative glomerulonephritis type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014007 Aicardi-Goutieres syndrome 6 NANDO:2200898 Aicardi-Goutieres syndrome 6 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014078 platelet-type bleeding disorder 15 NANDO:2200665 ACTN1 mutations MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014252 familial hypobetalipoproteinemia 1 NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 NANDO:2200743 PKC-δ deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014255 complement factor b deficiency NANDO:2200797 Factor B deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:1200995 Adenosine deaminase 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200441 Adenosine deaminase 2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200450 Deficiency of the enzyme ADA2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency NANDO:2200766 HOIL-1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014421 glucocorticoid resistance NANDO:2200358 Glucocorticoid resistance MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:1200994 NLRC4 mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:2200459 NLRC4 mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection NANDO:2200770 STAT2 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome NANDO:2200985 Takenouchi-Kosaki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0014945 myopathy, distal, with rimmed vacuoles NANDO:1200218 Distal myopathy with rimmed vacuoles MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015075 thyroid gland carcinoma NANDO:2200074 Thyroid cancer MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015104 porphyria cutanea tarda NANDO:1200816 Porphyria cutanea tarda MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015104 porphyria cutanea tarda NANDO:2201267 Porphyria cutanea tarda MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015129 chronic primary adrenal insufficiency NANDO:1200411 Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200359 Other chronic adrenal insufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200360 Addison's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015131 combined immunodeficiency NANDO:2100203 Combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015146 classic lissencephaly NANDO:1201068 Agyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015146 classic lissencephaly NANDO:1201069 Pachygyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015149 pure hereditary spastic paraplegia NANDO:1200053 Pure hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015150 complex hereditary spastic paraplegia NANDO:1200054 Complex hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency NANDO:2200911 Amylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015175 autoimmune pancreatitis NANDO:1200925 Autoimmune pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015175 autoimmune pancreatitis NANDO:2200943 Autoimmune pancreatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015183 short bowel syndrome NANDO:2100274 Short bowel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015183 short bowel syndrome NANDO:2200944 Short bowel syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015194 sideroblastic anemia NANDO:2100179 Sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015194 sideroblastic anemia NANDO:2200616 Sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015197 aneurysm of sinus of Valsalva NANDO:2200293 Aneurysm of sinus valsalva MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015229 Bardet-Biedl syndrome NANDO:2200414 Bardet-Biedl syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015231 Bartter syndrome NANDO:2100021 Bartter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015231 Bartter syndrome NANDO:2200146 Bartter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015253 Diamond-Blackfan anemia NANDO:1200890 Diamond-Blackfan anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015253 Diamond-Blackfan anemia NANDO:2200614 Congenital red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015264 cryptogenic organizing pneumonia NANDO:1200421 Cryptogenic organizing pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015265 bronchiolitis obliterans syndrome NANDO:1200745 Bronchiolitis obliterans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2100039 Bronchiolitis obliterans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2200209 Bronchiolitis obliterans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015268 medullary sponge kidney NANDO:2200173 Medullary sponge kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015273 complete atrioventricular canal NANDO:2100086 Complete atrioventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015273 complete atrioventricular canal NANDO:2200269 Complete atrioventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015275 partial atrioventricular canal NANDO:2200268 Incomplete atrioventricular septal defect MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015277 medullary thyroid gland carcinoma NANDO:2201054 Medullary thyroid carcinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015279 chronic mucocutaneous candidiasis NANDO:1200363 Chronic mucocutaneous candidiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015279 chronic mucocutaneous candidiasis NANDO:2200764 Chronic mucocutaneous candidiasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015280 cardiofaciocutaneous syndrome NANDO:1200462 CFC Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015280 cardiofaciocutaneous syndrome NANDO:2200967 CFC Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015285 Carney complex NANDO:1200756 Carney complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015333 progeroid syndrome NANDO:2100221 Progeroid syndromes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015337 isolated craniosynostosis NANDO:2200843 Non-syndromic craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015339 adrenomyeloneuropathy NANDO:1200168 Adrenomyeloneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015339 adrenomyeloneuropathy NANDO:2201248 Adrenomyeloneuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015358 hereditary motor and sensory neuropathy NANDO:2200855 Hereditary Motor and Sensory Neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015369 Joubert syndrome and related disorders NANDO:1200661 Joubert syndrome and related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015369 Joubert syndrome and related disorders NANDO:2100218 Joubert syndrome related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015369 Joubert syndrome and related disorders NANDO:2200824 Joubert syndrome related disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015375 orofaciodigital syndrome NANDO:1201051 Oral-facial-digital syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015395 congenital subglottic stenosis NANDO:1201004 Congenital subglottic stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015395 congenital subglottic stenosis NANDO:2200190 Laryngeal stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015408 diffuse lymphatic malformation NANDO:1200879 obsolete Lymphangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015408 diffuse lymphatic malformation NANDO:2201033 Lymphangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015436 ring chromosome 20 NANDO:1200597 Ring chromosome 20 syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015446 atypical coarctation of aorta NANDO:2200284 Coarctation complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015450 triatrial heart NANDO:2100083 Cor triatriatum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015450 triatrial heart NANDO:2200263 Cor triatriatum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015451 univentricular heart NANDO:1200704 Single ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015451 univentricular heart NANDO:2200250 Single ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015452 Coffin-Siris syndrome NANDO:1200670 Coffin-Siris syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015452 Coffin-Siris syndrome NANDO:2200977 Coffin-Siris syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015454 multiple carboxylase deficiency NANDO:1200820 Multiple carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015454 multiple carboxylase deficiency NANDO:2200500 Multiple carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015465 craniometaphyseal dysplasia NANDO:2201366 Craniometaphyseal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015469 craniosynostosis NANDO:2100227 Craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:1200971 Carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2200510 Carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015517 common variable immunodeficiency NANDO:1200344 Common variable immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015517 common variable immunodeficiency NANDO:2200717 Common variable immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015518 infantile bilateral striatal necrosis NANDO:2100242 Infantile bilateral striatal necrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015518 infantile bilateral striatal necrosis NANDO:2200888 Infantile bilateral striatal necrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015534 juvenile xanthogranuloma NANDO:2200037 Juvenile xanthogranuloma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015540 hemophagocytic syndrome NANDO:2200032 Hemophagocytic lymphohistiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015610 acquired aplastic anemia NANDO:2201277 Secondary aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015611 neutral lipid storage disease NANDO:1200622 Dorfman-Chanarin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015611 neutral lipid storage disease NANDO:2200997 Dorfman-Chanarin syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015626 Charcot-Marie-Tooth disease NANDO:1200016 Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015626 Charcot-Marie-Tooth disease NANDO:2200855 Hereditary Motor and Sensory Neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly NANDO:2201016 Type II collagenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015677 cardiac diverticulum NANDO:2200234 Aneurysm of ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015691 hypereosinophilic syndrome NANDO:2200805 Hyper eosinophilic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015691 hypereosinophilic syndrome NANDO:2200806 Hypereosinophilic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015759 B-cell non-Hodgkin lymphoma NANDO:2200020 Mature B-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:1201042 Progressive familial intrahepatic cholestasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:2200933 Progressive familial intrahepatic cholestasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015770 congenital hypogonadotropic hypogonadism NANDO:1200383 Congenital hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis NANDO:2200388 Mixed gonadal dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015780 dyskeratosis congenita NANDO:1200304 Dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015780 dyskeratosis congenita NANDO:1200342 Dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015780 dyskeratosis congenita NANDO:2200715 Dyskeratosis congenita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015790 central diabetes insipidus NANDO:1200375 Central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015790 central diabetes insipidus NANDO:2200324 Central diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015791 peripheral precocious puberty NANDO:2200378 Non-gonadotropin-dependent precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015863 polyembryoma NANDO:2200068 Polyembryoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015864 mixed germ cell tumor NANDO:2200071 Mixed germ cell tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015892 growth hormone insensitivity syndrome NANDO:2100114 Growth hormone insensitivity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015892 growth hormone insensitivity syndrome NANDO:2200321 Growth hormone insensitivity MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:1200775 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2100124 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2200345 Hypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015900 hypoaldosteronism disease NANDO:2100132 Hypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015909 aplastic anemia NANDO:1200295 Aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015909 aplastic anemia NANDO:1200301 Borderline between aplastic anemia and MDS MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015909 aplastic anemia NANDO:2100201 Aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015909 aplastic anemia NANDO:2200693 Aplastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015924 pulmonary arterial hypertension NANDO:1200425 Pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015924 pulmonary arterial hypertension NANDO:2100103 Pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015924 pulmonary arterial hypertension NANDO:2200298 Pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015929 thoracic malformation NANDO:2201008 Thoracic insufficiency syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:1200264 Eosinophilic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:2200427 Eosinophilic granulomatosis with polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015947 inherited ichthyosis NANDO:1200609 Congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015947 inherited ichthyosis NANDO:2100283 Congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015988 multicystic dysplastic kidney NANDO:2200158 Multicystic dysplastic kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0015993 cone-rod dystrophy NANDO:1200937 Cone-rod dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016006 Cockayne syndrome NANDO:1200677 Cockayne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016006 Cockayne syndrome NANDO:2200832 Cockayne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016019 Rasmussen subacute encephalitis NANDO:1200598 Rasmussen's encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016019 Rasmussen subacute encephalitis NANDO:2100246 Rasmussen's encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016019 Rasmussen subacute encephalitis NANDO:2200900 Rasmussen's encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016022 early myoclonic encephalopathy NANDO:1200594 Early myoclonic encephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016025 myoclonic-astatic epilepsy NANDO:1200590 Epilepsy with myoclonic atonic seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016030 Evans syndrome NANDO:1200310 Evans syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016033 Cornelia de Lange syndrome NANDO:1200960 Cornelia de lange syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016033 Cornelia de Lange syndrome NANDO:2200958 Cornelia de Lange syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016054 cerebral malformation NANDO:2100217 Brain malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016063 Cowden disease NANDO:2200918 Cowden syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016068 fibrochondrogenesis NANDO:2201016 Type II collagenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016079 sporadic Creutzfeldt-Jakob disease NANDO:1200187 Sporadic Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016081 coronary arterial fistulas NANDO:2200296 Coronary artery fistula MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency NANDO:2200586 Lesch-Nyhan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016089 infantile Krabbe disease NANDO:1200075 Infantile Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016089 infantile Krabbe disease NANDO:2201216 Infantile Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016091 adult Krabbe disease NANDO:1200077 Adult Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016091 adult Krabbe disease NANDO:2201219 Adult Krabbe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016107 myotonic dystrophy NANDO:1200495 Myotonic dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016107 myotonic dystrophy NANDO:2200864 Myotonic dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016110 obsolete non-dystrophic myopathy NANDO:1200496 Non-dystrophic myotonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016113 bulbospinal muscular atrophy NANDO:1200001 Spinal and bulbar muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016118 obsolete muscular glycogenosis NANDO:1200823 Muscle glycogen storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016129 eosinophilic gastroenteritis NANDO:1200457 Eosinophilic gastroenteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016147 qualitative or quantitative defects of dystrophin NANDO:1200487 Dystrophinopathies MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:1200465 Cryopyrin-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:2200432 Cryopyrin-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016233 obsolete rare lymphatic system malformation NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016239 cystinosis NANDO:1200161 Cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016239 cystinosis NANDO:2200571 Cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016241 alternating hemiplegia of childhood NANDO:1200403 Congenital adrenal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016241 alternating hemiplegia of childhood NANDO:1200525 Alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016241 alternating hemiplegia of childhood NANDO:2100239 Alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016241 alternating hemiplegia of childhood NANDO:2200357 Congenital adrenal hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016241 alternating hemiplegia of childhood NANDO:2200883 Alternating hemiplegia of childhood MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016242 hemoglobin C disease NANDO:2200635 Hemoglobin C disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200473 Atypical hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200474 Congenital atypical hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200131 Atypical hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200641 Atypical hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016264 autoimmune hepatitis NANDO:1200441 Autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016264 autoimmune hepatitis NANDO:1200442 Typical autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016264 autoimmune hepatitis NANDO:2100264 Autoimmune hepatitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016281 46,XX ovotesticular disorder of sex development NANDO:2200387 Ovotesticular dsd MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:1200150 Neuronal ceroid-lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:2200573 Neuronal ceroid lipofuscinoses MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016296 holoprosencephaly NANDO:2200819 Holoprosencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200699 Complete transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200701 Complete transposition of the great arteries (Group2) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200703 Complete transposition of the great arteries (Group4) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2100079 Congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2200259 Congenitally corrected transposition of the great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation NANDO:1200701 Complete transposition of the great arteries (Group2) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:1200065 Adult-onset Niemann-Pick disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:2201209 Adult-onset Niemann-Pick disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:1200098 Hunter syndrome type A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:2201173 Mucopolysaccharidosis type II, severe form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:1200099 Hunter syndrome type B MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201171 Mucopolysaccharidosis type II, attenuated form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201172 Mucopolysaccharidosis type II, intermediate form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016318 progressive multifocal leukoencephalopathy NANDO:1200205 Progressive multifocal leukoencephalopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016345 non-familial restrictive cardiomyopathy NANDO:1200294 Secondary restrictive cardiomyopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016349 congenital hydrocephalus NANDO:2200822 Congenital hydrocephalus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016356 diffuse cutaneous systemic sclerosis NANDO:1201010 Diffuse cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016358 limited cutaneous systemic sclerosis NANDO:1201011 Limited cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016367 dermatomyositis NANDO:1200274 Dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016383 nephrogenic diabetes insipidus NANDO:1200742 Congenital nephrogenic diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016383 nephrogenic diabetes insipidus NANDO:2200326 Nephrogenic diabetes insipidus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016391 neonatal diabetes mellitus NANDO:2200463 Neonatal diabetes mellitus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016407 oligomeganephronia NANDO:2200159 Oligomeganephronia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016410 central congenital hypothyroidism NANDO:1200390 Thyroid-stimulating hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016410 central congenital hypothyroidism NANDO:2200332 Thyroid-stimulating hormone deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016410 central congenital hypothyroidism NANDO:2200340 Central hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016418 multiple system atrophy, cerebellar type NANDO:1200035 Multiple system atrophy, cerebellar type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016430 Balo concentric sclerosis NANDO:1200028 Baló concentric sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016484 Usher syndrome type 2 NANDO:1200943 Usher syndrome Type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016485 Usher syndrome type 3 NANDO:1200944 Usher syndrome Type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016512 Kabuki syndrome NANDO:1200672 Kabuki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016512 Kabuki syndrome NANDO:2200956 Kabuki syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016525 familial hyperaldosteronism NANDO:2200602 Familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016532 Lennox-Gastaut syndrome NANDO:1200591 Lennox-Gastaut syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016532 Lennox-Gastaut syndrome NANDO:2200879 Lennox-Gastaut syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016535 hypohidrotic ectodermal dysplasia NANDO:2201005 Anhidrotic ectodermal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016536 autosomal recessive lymphoproliferative disease NANDO:2200735 CD27 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome NANDO:2200446 IL10 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:1200786 Tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2200594 Tetrahydrobiopterin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2201076 BH4 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016575 primary ciliary dyskinesia NANDO:2100034 Primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016575 primary ciliary dyskinesia NANDO:2200203 Primary ciliary dyskinesia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016575 primary ciliary dyskinesia NANDO:2200204 Kartagener syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016581 conotruncal heart malformations NANDO:2200275 Double-chambered right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016594 superficial siderosis NANDO:1200543 Superficial siderosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016597 obsolete generalized pustular psoriasis NANDO:1200240 Pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016600 acute neonatal citrullinemia type I NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016601 adult-onset citrullinemia type I NANDO:2201095 Late-onset argininosuccinate synthetase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016602 citrin deficiency NANDO:1200978 Citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016602 citrin deficiency NANDO:2200483 Citrin deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016603 citrullinemia type II NANDO:1200980 Adult-onset type II citrullinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:1200642 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2100288 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2201004 Pachydermoperiostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016642 meningioma NANDO:2200094 Meningioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016684 anaplastic astrocytoma NANDO:2200086 Anaplastic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016686 diffuse astrocytoma NANDO:2200085 Diffuse astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016691 pilocytic astrocytoma NANDO:2200084 Pilocytic astrocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016695 oligodendroglioma NANDO:2200089 Oligodendroglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016698 ependymoma NANDO:2200088 Ependymoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016723 pineocytoma NANDO:2200092 Pineocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016730 gangliocytoma NANDO:2200097 Gangliocytoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016733 ganglioglioma NANDO:2200096 Ganglioglioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA NANDO:2200524 Diseases due to mitochondrial DNA mutation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016812 dopa-responsive dystonia NANDO:1200516 Dystonia 5 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016812 dopa-responsive dystonia NANDO:2200885 Segawa syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016820 Moyamoya disease NANDO:1200183 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016820 Moyamoya disease NANDO:2100228 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016820 Moyamoya disease NANDO:2200850 Moyamoya disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:1200492 Emery-Dreifuss muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:2200857 Emery-Dreifuss muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016952 partial duplication of the long arm of chromosome 1 NANDO:1200958 Partial trisomy 1q MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016971 limb-girdle muscular dystrophy NANDO:1200490 Limb-girdle muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016971 limb-girdle muscular dystrophy NANDO:2200858 Limb-girdle muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0016987 neuroacanthocytosis NANDO:1200013 Neuroacanthocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017025 Langerhans cell histiocytosis specific to childhood NANDO:2200031 Langerhans cell histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017029 Langerhans cell histiocytosis specific to adulthood NANDO:2200031 Langerhans cell histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017042 thanatophoric dysplasia NANDO:1200874 Thanatophoric dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017051 classic maple syrup urine disease NANDO:2201078 Classic form maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017052 intermediate maple syrup urine disease NANDO:2201079 Intermediate maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017053 intermittent maple syrup urine disease NANDO:2201080 Intermittent maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017054 thiamine-responsive maple syrup urine disease NANDO:2201081 Thiamine-responsive maple syrup urine disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017069 spina bifida cystica NANDO:1200509 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017069 spina bifida cystica NANDO:2100215 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017069 spina bifida cystica NANDO:2200814 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017079 meningoencephalocele NANDO:2200813 Meningoencephalocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017096 isolated focal cortical dysplasia type Ia NANDO:1200565 Focal cortical dysplasia type 1a MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017097 isolated focal cortical dysplasia type Ib NANDO:1200566 Focal cortical dysplasia type 1b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017098 isolated focal cortical dysplasia type Ic NANDO:1200567 Focal cortical dysplasia type 1c MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017101 isolated focal cortical dysplasia type IIa NANDO:1200568 Focal cortical dysplasia type 2a MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017102 isolated focal cortical dysplasia type IIb NANDO:1200569 Focal cortical dysplasia type 2b MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017147 idiopathic pulmonary arterial hypertension NANDO:2201046 Idiopathic pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017148 heritable pulmonary arterial hypertension NANDO:2201047 Familial pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease NANDO:2201048 Secondary pulmonary arterial hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017160 behavioral variant of frontotemporal dementia NANDO:1200549 Behavioral variant frontotemporal dementia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017169 multiple endocrine neoplasia NANDO:2100148 Multiple endocrine neoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017182 familial hyperinsulinism NANDO:2100143 Hyperinsulinemic hypoglycemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017182 familial hyperinsulinism NANDO:2200399 Congenital hyperinsulinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017198 osteopetrosis NANDO:1200998 Osteopetrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017198 osteopetrosis NANDO:2201013 Osteopetrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:1200577 Pelizaeus-Merzbacher like disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:2201289 Pelizaeus-Merzbacher like disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017234 inherited prion disease NANDO:1200188 Genetic prion diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200714 Rapidly progressive glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200723 Crescentic glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:2200991 Autosomal recessive congenital ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017266 keratinopathic ichthyosis NANDO:1200610 Keratinopathic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017266 keratinopathic ichthyosis NANDO:2200987 Keratinopathic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017276 frontotemporal dementia NANDO:1200548 Frontotemporal lobar degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017278 autoimmune polyendocrinopathy NANDO:2100125 Autoimmune polyendocrinopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017287 IgG4-related disease NANDO:1200923 IgG4-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017287 IgG4-related disease NANDO:1200924 IgG4-related disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:1200648 Ehlers-Danlos syndrome, vascular type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:2201258 Ehlers-Danlos syndrome, vascular type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017319 hereditary elliptocytosis NANDO:2200630 Hereditary elliptocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017353 neonatal glycine encephalopathy NANDO:1200985 Neonatal nonketotic hyperglycinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017354 infantile glycine encephalopathy NANDO:1200986 Infantile nonketotic hyperglycinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017359 3-methylglutaconic aciduria NANDO:1200989 Methylglutaconic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017359 3-methylglutaconic aciduria NANDO:2200496 Methylglutaconic aciduria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017361 congenital rubella syndrome NANDO:2200890 Congenital rubella syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017364 POEMS syndrome NANDO:1200033 Crow-Fukase syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017380 juvenile polyposis syndrome NANDO:2200916 Juvenile polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017381 congenital herpes simplex virus infection NANDO:2200889 Congenital herpes simplex virus infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017385 malignant migrating partial seizures of infancy NANDO:1200595 Epilepsy of infancy with migrating focal seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:2201077 BH4-responsive hyperphenylalaninemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017398 3MC syndrome NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017409 fetal cytomegalovirus syndrome NANDO:2200891 Congenital cytomegalovirus infection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017410 porencephaly NANDO:1201074 Porencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017570 leukocyte adhesion deficiency NANDO:1200355 Leukocyte adhesion deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017570 leukocyte adhesion deficiency NANDO:2200755 Leukocyte adhesion deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017574 chronic intestinal pseudoobstruction NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017574 chronic intestinal pseudoobstruction NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017608 obsolete dystrophic epidermolysis bullosa NANDO:2201343 Dystrophic epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017610 epidermolysis bullosa simplex NANDO:1200235 Epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017610 epidermolysis bullosa simplex NANDO:2201341 Epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017610 epidermolysis bullosa simplex NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017612 junctional epidermolysis bullosa NANDO:1200236 Junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017612 junctional epidermolysis bullosa NANDO:2201342 Junctional epidermolysis bullosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency NANDO:1200824 Glycogen storage diseases type 0 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:1200139 Classic infantile Pompe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:2201229 Classic infantile Pompe disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form NANDO:2201159 Glycogen storage disease type IV, hepatic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017708 mevalonate kinase deficiency NANDO:2200436 Hyper IgD syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017716 disorder of carnitine cycle and carnitine transport NANDO:1200969 Carnitine cycle disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes NANDO:2200522 Mitochondrial respiratory chain disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017720 GM2 gangliosidosis NANDO:1200070 GM2 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017720 GM2 gangliosidosis NANDO:2200559 GM2 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:1200079 Late infantile metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:2201202 Metachromatic leukodystrophy, late infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:1200081 Adult metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:2201204 Metachromatic leukodystrophy, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017732 alpha-mannosidosis, infantile form NANDO:1200127 Alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017732 alpha-mannosidosis, infantile form NANDO:2201188 Alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017733 alpha-mannosidosis, adult form NANDO:1200128 Alpha-mannosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017733 alpha-mannosidosis, adult form NANDO:2201189 Alpha-mannosidosis, adult form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017734 sialidosis NANDO:1200116 Sialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017734 sialidosis NANDO:2200556 Sialidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017737 intermediate severe Salla disease NANDO:1200148 Intermediate severe Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017737 intermediate severe Salla disease NANDO:2201238 Intermediate severe Salla disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017746 atypical Rett syndrome NANDO:1200605 Atypical Rett syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017773 hypoalphalipoproteinemia NANDO:2200605 HDL deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017778 lamellar ichthyosis NANDO:1200617 Lamellar ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency NANDO:1200134 Schindler disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017816 primary systemic amyloidosis NANDO:1200209 Systemic amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017827 malignant peripheral nerve sheath tumor NANDO:2200102 Malignant neurinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017838 sclerosteosis NANDO:2201369 Sclerosteosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017842 Senior-Loken syndrome NANDO:1201049 Senior-Loken syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017858 acute erythroid leukemia NANDO:2200010 Acute erythremia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:1200964 Congenital pulmonary vein stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:2200273 Pulmonary venous obstruction MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017870 supravalvular pulmonary stenosis NANDO:2200278 Supravalvular pulmonary stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017910 dehydrated hereditary stomatocytosis NANDO:2200633 Stomatocytic xerocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:1200352 Autoimmune lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:2200726 Autoimmune lymphoproliferative syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017986 disorder of plasmalogens biosynthesis NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017987 syringomyelia NANDO:1200506 Syringomyelia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017987 syringomyelia NANDO:1200507 Symptomatic syringomyelia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200216 Polymorphic ventricular premature beat MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017991 Takayasu arteritis NANDO:1200251 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017991 Takayasu arteritis NANDO:2200423 Takayasu arteritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018018 wild type ATTR amyloidosis NANDO:1200212 Transthyretin-related senile systemic amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018029 congenital factor XIII deficiency NANDO:2200681 Factor XIII deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018035 obsolete syndrome with combined immunodeficiency NANDO:2100203 Combined immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018037 hyper-IgE syndrome NANDO:1200340 Hyper-IgE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018037 hyper-IgE syndrome NANDO:2200713 Hyper-IgE syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018048 heparin-induced thrombocytopenia NANDO:2200648 Heparin-induced thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018053 trichothiodystrophy NANDO:1200627 Trichothiodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018065 isolated trigonocephaly NANDO:2201305 Non-syndromic metopic craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018068 trisomy 13 NANDO:2200964 Trisomy 13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018071 trisomy 18 NANDO:2200963 Trisomy 18 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018072 persistent truncus arteriosus NANDO:1200693 Truncus arteriosus communis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018072 persistent truncus arteriosus NANDO:2200261 Truncus arteriosus communis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018088 familial Mediterranean fever NANDO:1200863 Familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018088 familial Mediterranean fever NANDO:2200431 Familial Mediterranean fever MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018089 double outlet right ventricle NANDO:1200710 Double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018089 double outlet right ventricle NANDO:2100076 Double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018089 double outlet right ventricle NANDO:2200256 Double outlet right ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018090 double outlet left ventricle NANDO:2100077 Double-outlet left ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018090 double outlet left ventricle NANDO:2200257 Double-outlet left ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018097 West syndrome NANDO:1200592 West syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018097 West syndrome NANDO:2200878 West syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018105 Wolfram syndrome NANDO:1200757 Wolfram syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018112 isolated scaphocephaly NANDO:2201302 Non-syndromic sagittal craniosynostosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018149 GM1 gangliosidosis NANDO:1200066 GM1 gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018149 GM1 gangliosidosis NANDO:2200558 GM1 Gangliosidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018150 Gaucher disease NANDO:1200056 Gaucher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018150 Gaucher disease NANDO:2200562 Gaucher disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018153 Erdheim-Chester disease NANDO:2200038 Erdheim-Chester disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018155 lateral sclerosis NANDO:1200008 Primary lateral sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200523 Mitochondrial DNA depletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200528 Diseases due to mitochondrial DNA deletion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018170 idiopathic nephrotic syndrome NANDO:1200719 Primary nephrotic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018175 combined deficiency of factor V and factor VIII NANDO:2200686 Combined deficiency of coagulation factors V and VIII MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018177 glioblastoma NANDO:2200087 Glioblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018178 intestinal lymphangiectasia NANDO:2100256 Intestinal lymphangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018178 intestinal lymphangiectasia NANDO:2200914 Intestinal lymphangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018209 Alexander disease type I NANDO:1200555 Alexander disease type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018210 Alexander disease type II NANDO:1200556 Alexander disease type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018229 Stevens-Johnson syndrome NANDO:1200245 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018229 Stevens-Johnson syndrome NANDO:2100290 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018229 Stevens-Johnson syndrome NANDO:2201006 Stevens-Johnson syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018240 TRPV4-related bone disorder NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:1201020 Hepatic glycogen storage disease type IX MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:2200544 Glycogen storage disease type IX MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200054 Primitive neuroectodermal tumors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200055 Peripheral primitive neuroectodermal tumors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018301 interstitial cystitis NANDO:1200743 Interstitial cystitis (Hunner type) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018305 chronic granulomatous disease NANDO:1200357 Chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018305 chronic granulomatous disease NANDO:2200757 Chronic granulomatous disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018306 Griscelli syndrome NANDO:1200640 Griscelli syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018307 neurodegeneration with brain iron accumulation NANDO:2100241 Neurodegeneration with brain iron accumulation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018309 Hirschsprung disease NANDO:1200903 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018309 Hirschsprung disease NANDO:2200945 Hirschsprung disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018309 Hirschsprung disease NANDO:2200948 Congenital Isolated Hypoganglionosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018310 Langerhans cell histiocytosis NANDO:2200031 Langerhans cell histiocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018328 homozygous familial hypercholesterolemia NANDO:1200394 Homozygous familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018328 homozygous familial hypercholesterolemia NANDO:2201255 Homozygous familial hypercholesterolemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018348 obsolete polyglucosan body myopathy type 1 NANDO:2200456 RBCK1 deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018438 eosinophilic gastrointestinal disease NANDO:1200454 Eosinophilic gastrointestinal disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018438 eosinophilic gastrointestinal disease NANDO:2200807 Eosinophilic gastrointestinal disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018467 nephropathic infantile cystinosis NANDO:1200162 Nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018467 nephropathic infantile cystinosis NANDO:2201234 Nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018470 renal agenesis NANDO:2200156 Renal aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018479 congenital adrenal hyperplasia NANDO:1200396 Congenital adrenal enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018479 congenital adrenal hyperplasia NANDO:1200397 Congenital lipoid adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018479 congenital adrenal hyperplasia NANDO:2100134 Congenital adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018479 congenital adrenal hyperplasia NANDO:2200370 Congenital lipoid adrenal hyperplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018483 secondary pulmonary alveolar proteinosis NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018542 severe congenital neutropenia NANDO:1200353 Severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018542 severe congenital neutropenia NANDO:2200745 Severe congenital neutropenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018544 adrenoleukodystrophy NANDO:1200165 Adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018544 adrenoleukodystrophy NANDO:2200576 Adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200428 Pulmonary capillary hemangiomatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018555 hypogonadotropic hypogonadism NANDO:1200388 Hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018555 hypogonadotropic hypogonadism NANDO:2100138 Hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018555 hypogonadotropic hypogonadism NANDO:2200382 Hypogonadotropic hypogonadism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018570 hypophosphatasia NANDO:1200656 Hypophosphatasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018570 hypophosphatasia NANDO:2201012 Hypophosphatasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018598 obsolete neonatal adrenoleukodystrophy NANDO:1200761 Neonatal adrenoleukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018612 congenital hypothyroidism NANDO:2200333 Congenital hypothyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome NANDO:2200325 Adipsic hypernatremia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018638 pseudohypoaldosteronism NANDO:2100133 Pseudohypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018638 pseudohypoaldosteronism NANDO:2200367 Pseudohypoaldosteronism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200311 Paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2100182 Paroxysmal nocturnal haemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2200621 Paroxysmal nocturnal hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018645 IgG4-related sclerosing cholangitis NANDO:1200928 IgG4-related sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018646 sclerosing cholangitis NANDO:1200440 Primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018646 sclerosing cholangitis NANDO:2100265 Primary sclerosing cholangitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018666 hepatoblastoma NANDO:2200046 Hepatoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018671 IgG4-related kidney disease NANDO:1200930 IgG4-related kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018686 acquired Creutzfeldt-Jakob disease NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018737 catastrophic antiphospholipid syndrome NANDO:1200270 Catastrophic antiphospholipid syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018746 mucous membrane pemphigoid NANDO:1200634 Mucous membrane pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018747 acquired epidermolysis bullosa NANDO:1200635 Epidermolysis bullosa acquisita MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018762 non-acquired combined pituitary hormone deficiency NANDO:2200312 Congenital hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018768 familial cold autoinflammatory syndrome NANDO:1200466 Familial cold autoinflammatorysyndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200449 NLRP12-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200454 NLRP12-associated periodic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2201068 familial cold autoinflammatory syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018778 intermediate Charcot-Marie-Tooth disease NANDO:1200019 Intermediate Charcot-Marie-Tooth disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018781 KID syndrome NANDO:1200621 Keratitis-ichthyosis-deafness syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018781 KID syndrome NANDO:2200996 Keratitis-ichthyosis-deafness syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018800 Kallmann syndrome NANDO:2200381 Kallmann syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018808 Caroli syndrome NANDO:2200934 Caroli disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018824 pyoderma gangrenosum NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018838 lissencephaly spectrum disorders NANDO:1200574 Neuronal migration defects MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018838 lissencephaly spectrum disorders NANDO:2200817 Lissencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2100267 Congenital hepatic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2200936 Congenital hepatic fibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018866 Aicardi-Goutieres syndrome NANDO:1200996 Aicardi-Goutières Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2100244 Aicardi-Goutières Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2200893 Aicardi-Goutières Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018868 metachromatic leukodystrophy NANDO:1200078 Metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018868 metachromatic leukodystrophy NANDO:2200560 Metachromatic leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018869 cobblestone lissencephaly NANDO:1201072 Cobblestone brain malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018872 acute megakaryoblastic leukemia NANDO:2200011 Acute megakaryoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018878 branchiootic syndrome NANDO:1200675 Branchio-oto-renal syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018881 myelodysplastic syndrome NANDO:2100003 Myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018881 myelodysplastic syndrome NANDO:2200019 Myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:1200859 Generalized congenital lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:2200465 Lipoatrophic diabetes MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:1200316 Thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2100189 Thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2200649 Thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018901 left ventricular noncompaction NANDO:2200231 Non-compaction of the ventricle MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:1200725 Primary membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:2200123 Membranoproliferative glomerulonephritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018907 craniopharyngioma NANDO:2200091 Craniopharyngioma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018910 oculocutaneous albinism NANDO:1200637 Oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018910 oculocutaneous albinism NANDO:1200641 Non-syndromic oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018910 oculocutaneous albinism NANDO:2200986 Oculocutaneous albinism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018911 maturity-onset diabetes of the young NANDO:2200462 Maturity-onset diabetes of the young MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018919 McCune-Albright syndrome NANDO:2200412 McCune-Albright syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018922 cold agglutinin disease NANDO:1200307 Cold agglutinin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018922 cold agglutinin disease NANDO:2200618 Cold agglutinin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018923 22q11.2 deletion syndrome NANDO:1200339 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018923 22q11.2 deletion syndrome NANDO:1200688 22q11.2 deletion syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018923 22q11.2 deletion syndrome NANDO:2200712 Thymus hypoplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:1200125 Mucolipidosis III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:2200568 Mucolipidosis III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018937 mucopolysaccharidosis type 3 NANDO:1200100 Sanfilippo disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018937 mucopolysaccharidosis type 3 NANDO:2200549 Mucopolysaccharidosis type III MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018938 mucopolysaccharidosis type 4 NANDO:1200105 Morquio syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018938 mucopolysaccharidosis type 4 NANDO:2200550 Mucopolysaccharidosis type IV MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018940 congenital myasthenic syndrome NANDO:1200021 Congenital myasthenic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018945 McLeod neuroacanthocytosis syndrome NANDO:1200015 McLeod syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018947 centronuclear myopathy NANDO:1200481 Myotubular myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018947 centronuclear myopathy NANDO:1200482 Centronuclear myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018947 centronuclear myopathy NANDO:2200867 Myotubular myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018948 multiminicore myopathy NANDO:1200480 Minicore myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018948 multiminicore myopathy NANDO:2200871 Multicore disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018949 distal myopathy NANDO:1200216 Distal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018954 Loeys-Dietz syndrome NANDO:2200969 Loeys-Dietz syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018958 nemaline myopathy NANDO:1200478 Nemaline myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018958 nemaline myopathy NANDO:2200869 Nemaline myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018959 potassium-aggravated myotonia NANDO:1200500 Sodium channel myotonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018960 congenital primary megaureter NANDO:2200184 Megaureter MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018965 Alport syndrome NANDO:1200712 Alport's syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018965 Alport syndrome NANDO:2200126 Alport syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018974 paraneoplastic pemphigus NANDO:1200231 Paraneoplastic pemphigus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018975 neurofibromatosis type 1 NANDO:1200225 Neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018975 neurofibromatosis type 1 NANDO:1200226 Neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018975 neurofibromatosis type 1 NANDO:2100287 von Recklinghausen's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018975 neurofibromatosis type 1 NANDO:2201003 von Recklinghausen's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018979 multifocal motor neuropathy NANDO:1200031 Multifocal motor neuropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018982 Niemann-Pick disease type C NANDO:1200063 Niemann-Pick disease type C MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018993 Charcot-Marie-Tooth disease type 2 NANDO:1200018 Charcot-Marie-Tooth disease type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018997 Noonan syndrome NANDO:1200680 Noonan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018997 Noonan syndrome NANDO:2200413 Noonan syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0018999 LCAT deficiency NANDO:1200852 Lecithin cholesterol acyltransferase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019003 multiple endocrine neoplasia type 2 NANDO:2200406 Multiple endocrine neoplasia type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019004 kidney Wilms tumor NANDO:2200043 Wilms tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019005 nephronophthisis NANDO:1201036 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019005 nephronophthisis NANDO:2100015 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019005 nephronophthisis NANDO:2200140 Nephronophthisis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019005 nephronophthisis NANDO:2200170 Medullary cystic kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019009 isolated focal cortical dysplasia NANDO:1200564 Focal cortical dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019011 Charcot-Marie-Tooth disease type 1 NANDO:1200017 Charcot-Marie-Tooth disease type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019012 Carpenter syndrome NANDO:2200847 Carpenter syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019019 osteogenesis imperfecta NANDO:1200873 Osteogenesis imperfecta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019019 osteogenesis imperfecta NANDO:2201011 Osteogenesis imperfecta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019029 segmental odontomaxillary dysplasia NANDO:1200561 Septo-optic dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019035 pancreatoblastoma NANDO:2200082 Pancreatoblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019037 progressive supranuclear palsy NANDO:1200009 Progressive supranuclear palsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019040 chromosomal disorder NANDO:1100014 Chromosome abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019040 chromosomal disorder NANDO:2100279 Chromosome abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019040 chromosomal disorder NANDO:2100280 Chromosome abnormality MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019046 leukodystrophy NANDO:1200575 Congenital hypomyelinating leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019046 leukodystrophy NANDO:2200836 Congenital hypomyelinating leukodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019052 inborn errors of metabolism NANDO:2100159 Inborn errors of metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019053 peroxisomal disease NANDO:1200758 Peroxisomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019053 peroxisomal disease NANDO:2100166 Peroxisomal disorder MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019056 neuromuscular disease NANDO:1100001 Neuromuscular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019056 neuromuscular disease NANDO:2100214 Neuromuscular disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019064 hereditary spastic paraplegia NANDO:1200052 Hereditary spastic paraplegia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019065 amyloidosis NANDO:2200138 Amyloid nephropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019079 proximal spinal muscular atrophy NANDO:2100231 Spinal muscular atrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019082 bullous pemphigoid NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019082 bullous pemphigoid NANDO:1200633 Bullous pemphigoid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019100 neuromyelitis optica NANDO:1200027 Neuromyelitis optica spectrum disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019100 neuromyelitis optica NANDO:2201322 Neuromyelitis optica MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019123 continuous spikes and waves during sleep NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019124 microscopic polyangiitis NANDO:1200262 Microscopic polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019124 microscopic polyangiitis NANDO:2200426 Microscopic polyangiitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019125 relapsing polychondritis NANDO:1200283 Relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019125 relapsing polychondritis NANDO:2100154 Relapsing Polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019125 relapsing polychondritis NANDO:2200428 Relapsing polychondritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019127 polymyositis NANDO:1200276 Polymyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019139 acquired hemophilia NANDO:1200898 Acquired hemophilia A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019142 inherited porphyria NANDO:2200610 Congenital porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:1201080 Protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2100197 Protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2200689 Protein C deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:1200359 Mendelian susceptibility to mycobacterial disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:2200759 Mendelian susceptibility to mycobacterial disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019148 Wolman disease NANDO:1200142 Acid lipase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019148 Wolman disease NANDO:1200143 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019148 Wolman disease NANDO:2200570 Acid lipase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019148 Wolman disease NANDO:2201232 Wolman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019149 cholesteryl ester storage disease NANDO:1200144 Cholesterol ester storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019149 cholesteryl ester storage disease NANDO:2201233 Cholesterol ester storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019154 androgen insensitivity syndrome NANDO:2200391 Androgen insensitivity syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019161 pseudohypoaldosteronism type 1 NANDO:2200368 Pseudohypoaldosteronism type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019162 pseudohypoaldosteronism type 2 NANDO:2200369 Pseudohypoaldosteronism type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019165 central precocious puberty NANDO:1200381 Central precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019165 central precocious puberty NANDO:2200377 Gonadotropin-dependent precocious puberty MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019169 pyruvate dehydrogenase deficiency NANDO:2200518 Pyruvate dehydrogenase complex deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019170 polyarteritis nodosa NANDO:1200261 Polyarteritis nodosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019170 polyarteritis nodosa NANDO:2200425 Polyangiitis nodosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019171 familial long QT syndrome NANDO:2200228 Long qt syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019172 aniridia NANDO:1201001 Aniridia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019174 obsolete infantile Refsum disease NANDO:1200762 Infantile Refsum disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019175 primary lymphedema NANDO:2201031 Primary lymphedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:1200744 Osler disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2100296 Hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2201034 Hereditary hemorrhagic telangiectasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019188 Rubinstein-Taybi syndrome NANDO:1200461 Rubinstein-Taybi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019188 Rubinstein-Taybi syndrome NANDO:2200955 Rubinstein-Taybi syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019193 acquired generalized lipodystrophy NANDO:1200860 Acquired generalized lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019200 retinitis pigmentosa NANDO:1200431 Retinitis pigmentosa MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019203 acute interstitial pneumonia NANDO:1200420 Acute interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019208 Bickerstaff brainstem encephalitis NANDO:1200551 Bickerstaff's brainstem encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019214 inborn carbohydrate metabolic disorder NANDO:2100164 Disorder of carbohydrate metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019218 inborn disorder of bile acid synthesis NANDO:2200506 Inborn errors of bile acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019233 disorder of peroxisomal beta oxidation NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019234 peroxisome biogenesis disorder NANDO:1200759 Peroxisome biogenesis disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019234 peroxisome biogenesis disorder NANDO:2200575 Peroxisome biogenesis disorders MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:1200155 Adult neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:2201244 Adult neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:1200152 Infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:2201241 Infantile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019263 autosomal erythropoietic protoporphyria NANDO:1200815 Erythropoietic protoporphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 NANDO:1200137 Schindler disease type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019269 ichthyosis NANDO:1200618 Ichthyosis syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200616 Congenital ichthyosiform erythroderma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200617 Lamellar ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019312 Hermansky-Pudlak syndrome NANDO:1200638 Hermansky-Pudlak syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019322 pemphigus vegetans NANDO:1200232 Pemphigus vegetans MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019323 pemphigus erythematosus NANDO:1200233 Pemphigus erythematosus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019324 pemphigus foliaceus NANDO:1200230 Pemphigus foliaceus MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019328 macrocystic lymphatic malformation NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019338 sarcoidosis NANDO:1200415 Sarcoidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019341 obsolete tuberous sclerosis complex NANDO:1200607 Tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019341 obsolete tuberous sclerosis complex NANDO:2200826 Tuberous sclerosis complex MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019346 sialidosis type 1 NANDO:1200117 Sialidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019346 sialidosis type 1 NANDO:2201191 Sialidosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019349 Sotos syndrome NANDO:1200679 Sotos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019349 Sotos syndrome NANDO:2200953 Sotos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019350 hereditary spherocytosis NANDO:2200622 Hereditary spherocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019353 Stargardt disease NANDO:1200933 Stargardt disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019355 adult-onset Still disease NANDO:1200282 Adult Still's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019366 free sialic acid storage disease NANDO:1200146 Free sialic acid storage disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019366 free sialic acid storage disease NANDO:2200572 Free Sialic Acid Storage Disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019373 desmoplastic small round cell tumor NANDO:2200059 Desmoplastic small round cell tumors MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019391 Fanconi anemia NANDO:1200303 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019391 Fanconi anemia NANDO:1200891 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019391 Fanconi anemia NANDO:2200652 Fanconi anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019399 Isaac syndrome NANDO:1200510 Isaacs syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019402 beta thalassemia NANDO:2201274 β-thalassemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019403 congenital dyserythropoietic anemia NANDO:1200885 Congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019403 congenital dyserythropoietic anemia NANDO:2100178 Congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019403 congenital dyserythropoietic anemia NANDO:2200615 Congenital dyserythropoietic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019408 Astley-Kendall dysplasia NANDO:2201362 Astley-Kendall dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia NANDO:2200647 Neonatal alloimmune thrombocytopenia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:1200471 Articular-type juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:2201056 Oligoarticular juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:1200470 Systemic juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:2201055 Systemic juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019438 AL amyloidosis NANDO:1200211 Amyloid light-chain amyloidosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019443 dextro-looped transposition of the great arteries NANDO:1200698 Corrected transposition of great arteries MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019448 benign adult familial myoclonic epilepsy NANDO:1200956 Benign adult familial myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200017 Acute undifferentiated leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200018 Mixed phenotype acute leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019470 aggressive NK-cell leukemia NANDO:2200012 NK cell leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019472 extranodal nasal NK/T cell lymphoma NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019480 Langerhans cell sarcoma NANDO:2200036 Langerhans cell sarcoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019487 epilepsy with myoclonic absences NANDO:1200589 Myoclonic absence epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019499 Turner syndrome NANDO:2200410 Turner syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019501 Usher syndrome NANDO:1200941 Usher syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019503 anterior segment dysgenesis NANDO:1201000 Anterior segment dysgenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019532 autoimmune hemolytic anemia, warm type NANDO:1200306 Warm antibody hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:1200308 Paroxysmal cold hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:2200619 Paroxysmal cold hemoglobinuria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019534 mixed-type autoimmune hemolytic anemia NANDO:1200309 Mixed-type autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019563 CREST syndrome NANDO:1201011 Limited cutaneous systemic sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019600 xeroderma pigmentosum NANDO:1200608 Xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019600 xeroderma pigmentosum NANDO:2100286 Xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019600 xeroderma pigmentosum NANDO:2201002 Xeroderma pigmentosum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019607 unspecified juvenile idiopathic arthritis NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019609 Zellweger spectrum disorders NANDO:1200760 Zellweger syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019611 TSH-secreting pituitary adenoma NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019622 non-specific interstitial pneumonia NANDO:1200419 Non-specific interstitial pneumonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019623 hereditary angioedema NANDO:1200365 Hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019623 hereditary angioedema NANDO:2200795 Hereditary angioedema MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019637 renal hypoplasia NANDO:2200155 Hypoplastic kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019638 renal dysplasia NANDO:2200161 Renal dysplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019639 congenital megacalycosis NANDO:2200177 Megacalycosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019642 vitamin D-dependent rickets, type 2 NANDO:1200783 Vitamin D-dependent rickets, type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis NANDO:2200111 Diffuse mesangial sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019669 hypochondrogenesis NANDO:2201346 Hypochondrogenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019701 chondrodysplasia punctata NANDO:2201017 Chondrodysplasia punctata MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019731 AApoAI amyloidosis NANDO:1201062 Familial amyloid polyneuropathy type 3 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019734 juvenile polymyositis NANDO:2200419 Juvenile polymyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019736 dense deposit disease NANDO:1200739 Primary membranoproliferative glomerulonephritis type II MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200319 Secondary thrombotic thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019751 autoinflammatory syndrome NANDO:2100156 Autoinflammatory disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019773 myelomeningocele NANDO:1200509 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019773 myelomeningocele NANDO:2100215 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019773 myelomeningocele NANDO:2200814 Myelomeningocele MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019787 autoimmune enteropathy NANDO:2200923 Autoimmune enteropathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019799 hepatoerythropoietic porphyria NANDO:1200819 Hepatoerythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019799 hepatoerythropoietic porphyria NANDO:2201270 Hepatoerythropoietic porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019804 tracheomalacia NANDO:2200195 Tracheomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019810 toxic epidermal necrolysis NANDO:1200246 Toxic epidermal necrolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019810 toxic epidermal necrolysis NANDO:2201007 Toxic epidermal necrolysis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019813 congenital tricuspid stenosis NANDO:1200962 Congenital tricuspid stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019832 acquired pituitary hormone deficiency NANDO:2200313 Acquired hypopituitarism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019854 thyroid ectopia NANDO:2200330 Ectoic thyroid MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019855 athyreosis NANDO:2200331 Thyroid agenesis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019933 acromegaly NANDO:2100112 Acromegaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019933 acromegaly NANDO:2200315 Acromegaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019948 reducing body myopathy NANDO:2200875 Reducing body myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019952 congenital myopathy NANDO:1200477 Congenital myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019952 congenital myopathy NANDO:2100234 Congenital myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019959 glucagonoma NANDO:2100142 Glucagonoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019959 glucagonoma NANDO:2200397 Glucagonoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019960 VIPoma NANDO:2200394 Vipoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019983 multiloculated renal cyst NANDO:2200171 Multilocular cysts of the kidney MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019992 pseudohypoparathyroidism NANDO:1200776 Pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019992 pseudohypoparathyroidism NANDO:2100126 Pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0019992 pseudohypoparathyroidism NANDO:2200349 Pseudohypoparathyroidism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020007 absence of the pulmonary artery NANDO:2200282 Unilateral absence of a pulmonary artery MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020022 central nervous system malformation NANDO:2200118 Central nervous system malformation syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020040 46,XY disorder of sex development NANDO:2200393 Disorders of sex development of 46,XX MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development NANDO:2200393 Disorders of sex development of 46,XX MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020064 pulmonary valve agenesis NANDO:2100095 Absent pulmonary valve MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020064 pulmonary valve agenesis NANDO:2200280 Absent pulmonary valve MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020066 Ehlers-Danlos syndrome NANDO:1200645 Ehlers-Danlos Syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020066 Ehlers-Danlos syndrome NANDO:2200607 Ehlers-Danlos syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020074 progressive myoclonus epilepsy NANDO:1200953 Progressive myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020074 progressive myoclonus epilepsy NANDO:2100237 Progressive myoclonus epilepsy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020088 familial partial lipodystrophy NANDO:1200861 Familial partial lipodystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020099 inherited sideroblastic anemia NANDO:1200892 Hereditary sideroblastic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020102 hereditary stomatocytosis NANDO:2200623 Hereditary stomatocytosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020108 autoimmune hemolytic anemia NANDO:1200305 Autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020108 autoimmune hemolytic anemia NANDO:2100181 Autoimmune hemolytic anemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020121 muscular dystrophy NANDO:1200486 Muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020121 muscular dystrophy NANDO:2100233 Muscular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020242 hereditary macular dystrophy NANDO:1200931 Macular dystrophy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020311 chronic myelomonocytic leukemia NANDO:2200014 Chronic myelomonocytic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020320 acute myeloblastic leukemia with maturation NANDO:2200006 Acute myeloid leukemia with maturation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020321 acute undifferentiated leukemia NANDO:2200017 Acute undifferentiated leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020325 anaplastic large cell lymphoma NANDO:2200021 Anaplastic large cell lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020337 congenital dyserythropoietic anemia type 1 NANDO:1200886 Congenital dyserythropoietic anemia type I MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020338 adult pure red cell aplasia NANDO:1200889 Acquired pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020338 adult pure red cell aplasia NANDO:2200613 Acquired pure red cell aplasia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020341 periventricular nodular heterotopia NANDO:1201079 Periventricular nodular heterotopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020352 multiple system atrophy, parkinsonian type NANDO:1200036 Multiple system atrophy, Parkinsonian type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation NANDO:1200703 Complete transposition of the great arteries (Group4) MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020391 pulmonary artery coming from the aorta NANDO:2200281 Origin of pulmonary artery from ascending aorta MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020398 congenital mitral stenosis NANDO:1200963 Congenital mitral stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020400 congenital supravalvular mitral ring NANDO:2200308 Supramitral ring MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020413 encircling double aortic arch NANDO:2200290 Double aortic arch disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020428 congenital Gerbode defect NANDO:2100090 Left ventricular-right atrial communication MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020428 congenital Gerbode defect NANDO:2200274 Left ventricular-right atrial communication MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020434 atrial septal defect, ostium secundum type NANDO:2200266 Atrial septal defect, ostium secundum type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020436 atrial septal defect, sinus venosus type NANDO:2200267 Atrial septal defect, sinus venosus type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020439 patent foramen ovale NANDO:2200266 Atrial septal defect, ostium secundum type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020453 congenital partial pulmonary venous return anomaly NANDO:2200272 Partial anomalous pulmonary venous connection MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020459 unstable hemoglobin disease NANDO:2200625 Unstable hemoglobin disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020460 acquired von willebrand syndrome NANDO:1200899 Acquired von Willebrand disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020479 pituitary gigantism NANDO:2100111 Pituitary gigantism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020479 pituitary gigantism NANDO:2200314 Pituitary gigantism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 NANDO:2200365 Aldosterone synthase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020491 subcortical band heterotopia NANDO:1201070 Subcortical band heterotopia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020492 hemimegalencephaly NANDO:1200563 Hemimegalencephaly MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200001 B-cell precursor lymphoblastic leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200022 Precursor B lymphoblastic lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020547 chronic graft versus host disease NANDO:2100213 Chronic graft-versus-host disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020547 chronic graft versus host disease NANDO:2200812 Chronic graft-versus-host disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020560 atypical teratoid rhabdoid tumor NANDO:2200101 Atypical teratoid, rhabdoid tumour MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020586 factor V deficiency NANDO:2200674 Factor V deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020587 factor XI deficiency NANDO:2200679 Factor XI deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020599 acquired coagulation factor deficiency NANDO:1200896 Autoimmune acquired coagulation factor deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:1200630 Conradi Hünermann Happle syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020640 autoimmune encephalitis NANDO:2100248 Autoimmune encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020640 autoimmune encephalitis NANDO:2200902 Autoimmune encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020642 polycystic kidney disease NANDO:1200367 Polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020642 polycystic kidney disease NANDO:2200152 Polycystic kidney disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020690 adult glioblastoma NANDO:2200087 Glioblastoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:1200611 Autosomal dominant epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:2200988 Autosomal dominant epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020743 mixed phenotype acute leukemia NANDO:2200018 Mixed phenotype acute leukemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020793 oculopharyngodistal myopathy 1 NANDO:1200219 Oculopharyngodistal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020803 obsolete bundle branch block NANDO:2100046 Bundle branch block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0020803 obsolete bundle branch block NANDO:2200215 Bundle branch block MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021055 classic familial adenomatous polyposis NANDO:2200915 Familial adenomatous polyposis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021061 neurofibromatosis NANDO:1200225 Neurofibromatosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021061 neurofibromatosis NANDO:1200226 Neurofibromatosis type 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021061 neurofibromatosis NANDO:1200227 Neurofibromatosis type 2 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021061 neurofibromatosis NANDO:2201003 von Recklinghausen's disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021081 anti-NMDA receptor encephalitis NANDO:2201317 Anti-NMDA receptor encephalitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021094 immunodeficiency disease NANDO:2100204 Immunodeficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021133 acquired factor XIII deficiency NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021134 acquired factor X deficiency NANDO:1201048 Acquired factor X inhibitor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021209 heart neoplasm NANDO:2100061 Cardiac tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021209 heart neoplasm NANDO:2200236 Cardiac tumor MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021902 aortopulmonary window NANDO:2100082 Aorto-pulmonary window MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021902 aortopulmonary window NANDO:2200262 Aorto-pulmonary window MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021915 arakawa syndrome 2 NANDO:2201111 Methylcobalamin deficiency cblG type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0021969 Banti syndrome NANDO:1200438 Idiopathic portal hypertension MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022205 pustular psoriasis NANDO:1200240 Pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022205 pustular psoriasis NANDO:2100285 Pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022205 pustular psoriasis NANDO:2201001 Pustular psoriasis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022308 corticobasal degeneration disorder NANDO:1200011 Corticobasal degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022402 agyria-pachygyria type 1 NANDO:1201068 Agyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022402 agyria-pachygyria type 1 NANDO:1201069 Pachygyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022424 alpha-mannosidosis type 1 NANDO:1200127 Alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022424 alpha-mannosidosis type 1 NANDO:2201188 Alpha-mannosidosis, infantile form MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022800 type 2 collagenopathy NANDO:2201016 Type II collagenopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022858 continuous spike-wave during slow sleep syndrome NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0022880 obsolete corticobasal degeneration NANDO:1200011 Corticobasal degeneration MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation NANDO:1200841 Hepatic glycogen storage disease type Ib MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0023419 hyperprolinemia NANDO:2200471 Hyperprolinemia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024291 vascular malformation NANDO:2100295 Vascular malformation MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024299 vitamin D-dependent rickets NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024299 vitamin D-dependent rickets NANDO:2100144 Vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024299 vitamin D-dependent rickets NANDO:2200401 Vitamin D-dependent rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024300 hypophosphatemic rickets NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024300 hypophosphatemic rickets NANDO:1200780 Vitamin D-resistant osteomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024300 hypophosphatemic rickets NANDO:2200402 Vitamin D-resistant osteomalacia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024300 hypophosphatemic rickets NANDO:2200403 Primary hypophosphatemic rickets MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) NANDO:1200643 Pseudoxanthoma elasticum MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024327 chronic renal failure syndrome NANDO:2100023 Chronic renal failure MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024457 neurodegeneration with brain iron accumulation 2A NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024536 glucocorticoid deficiency 1 NANDO:1200408 MC2R deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024538 basal ganglia calcification, idiopathic, 1 NANDO:1200208 Familial idiopathic basal ganglia calcification MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024574 von Willebrand disease (hereditary or acquired) NANDO:2200682 Von Willebrand disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024623 otorhinolaryngologic disease NANDO:1100015 Otorhinolaryngological disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024644 myocardial ischemia NANDO:2100070 Ischemic heart disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024677 pancreatic insulinoma NANDO:2200398 Insulinoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0024746 immature teratoma NANDO:2200106 Immature teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0025193 oculopharyngodistal myopathy NANDO:1200219 Oculopharyngodistal myopathy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0028737 obsolete biliary atresia disorder NANDO:1200913 Biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0028737 obsolete biliary atresia disorder NANDO:2200930 biliary atresia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0037792 carbohydrate metabolism disease NANDO:2100164 Disorder of carbohydrate metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0037858 inherited fatty acid metabolism disorder NANDO:2100162 Disorder of fatty-acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0037871 amino acid metabolism disease NANDO:2100160 Disorder of amino acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0037939 porphyria NANDO:1200811 Porphyria MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0042727 sacrococcygeal teratoma NANDO:2100216 Sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0042727 sacrococcygeal teratoma NANDO:2200816 Sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0042727 sacrococcygeal teratoma NANDO:2201287 Altman type IV sacrococcygeal teratoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0042981 aortic valve stenosis NANDO:2200306 Aortic valve stenosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0042983 neurocutaneous syndrome NANDO:2100220 Neurocutaneous syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0043094 ichthyosis, follicular NANDO:1200628 Ichthyosis follicularis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0043152 negative rheumatoid factor polyarthritis NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0043267 rheumatoid vasculitis NANDO:1200265 Rheumatoid vasculitis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0043317 amyopathic dermatomyositis NANDO:1200275 Amyopathic dermatomyositis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0043472 ectopic ACTH secretion syndrome NANDO:2200351 Ectopic ACTH syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0043768 thrombocytopenic purpura NANDO:2100188 Thrombocytopenic purpura MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044354 obsolete Rosai-Dorfman disease NANDO:2200039 Rosai-Dorfman disease MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:1200612 Autosomal recessive epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:2200989 Autosomal recessive epidermolytic ichthyosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044744 prekallikrein deficiency NANDO:2200684 Congenital prekallikrein deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044807 inherited dystonia NANDO:1200511 Hereditary dystonia MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044808 obsolete early onset primary dystonia NANDO:1200512 Dystonia 1 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044873 childhood myelodysplastic syndrome NANDO:2100003 Myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044873 childhood myelodysplastic syndrome NANDO:2200019 Myelodysplastic syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044903 myelofibrosis NANDO:2100200 Myelofibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044903 myelofibrosis NANDO:2200692 Myelofibrosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044917 T-lymphoblastic lymphoma NANDO:2200023 Precursor T lymphoblastic lymphoma MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044970 mitochondrial disease NANDO:1200173 Mitochondrial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0044970 mitochondrial disease NANDO:2100163 Mitochondrial diseases MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0045022 disorder of organic acid metabolism NANDO:2100161 Disorder of organic acid metabolism MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0045045 selective IgG immunodeficiency NANDO:1200346 IgG subclass deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100025 epilepsy of infancy with migrating focal seizures NANDO:1200595 Epilepsy of infancy with migrating focal seizures MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100062 developmental and epileptic encephalopathy NANDO:1200593 Ohtahara syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100064 tyrosine hydroxylase deficiency NANDO:2200595 Tyrosine hydroxylase deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 NANDO:2200662 Familial platelet disorder with propensity to myeloid. MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100133 mitochondrial complex I deficiency NANDO:1200180 Mitochondrial complex I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100135 Dravet syndrome NANDO:1200587 Dravet syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100135 Dravet syndrome NANDO:2200877 Severe myoclonic epilepsy in infancy MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100151 nephropathic cystinosis NANDO:1200162 Nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100151 nephropathic cystinosis NANDO:2201234 Nephropathic cystinosis MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100189 apolipoprotein A-I deficiency NANDO:2200605 HDL deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive NANDO:2200737 STAT5b deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100222 A20 haploinsufficiency NANDO:1200997 A20 haploinsufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100222 A20 haploinsufficiency NANDO:2200458 A20 haploinsufficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 NANDO:1200180 Mitochondrial complex I deficiency MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 +subject_id subject_label object_id equivalence author_id mapping_provider object_label +ID A oboInOwl:hasDbXref >A oboInOwl:source >A oboInOwl:source SPLIT=| >A oboInOwl:source +MONDO:0000050 isolated congenital growth hormone deficiency NANDO:2200317 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital growth hormone deficiency +MONDO:0000087 polymicrogyria NANDO:1201071 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polymicrogyria +MONDO:0000088 precocious puberty NANDO:2100135 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Precocious puberty +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:1200334 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ICF syndrome +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:2200708 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ICF syndrome +MONDO:0000147 polyposis NANDO:2100257 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polyposis +MONDO:0000153 transposition of the great arteries NANDO:2200258 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete transposition of the great arteries +MONDO:0000188 GLUT1 deficiency syndrome NANDO:1200799 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glucose transporter 1 deficiency +MONDO:0000190 ventricular fibrillation NANDO:2100052 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ventricular fibrillation +MONDO:0000190 ventricular fibrillation NANDO:2200227 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ventricular fibrillation +MONDO:0000351 disorder of methionine catabolism NANDO:2200475 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypermethioninemia +MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:1200215 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ullrich disease +MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:2200862 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ullrich congenital muscular dystrophy +MONDO:0000390 vitelliform macular dystrophy NANDO:1200932 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitelliform macular dystrophy +MONDO:0000437 cerebellar ataxia NANDO:1200037 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar degeneration +MONDO:0000437 cerebellar ataxia NANDO:2100238 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar degeneration +MONDO:0000437 cerebellar ataxia NANDO:2200882 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar degeneration +MONDO:0000450 secondary progressive multiple sclerosis NANDO:1200026 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Secondary progressive multiple sclerosis +MONDO:0000450 secondary progressive multiple sclerosis NANDO:2201321 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Secondary progressive multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis NANDO:1200025 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary progressive multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis NANDO:2201320 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary progressive multiple sclerosis +MONDO:0000455 cone dystrophy NANDO:1200936 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cone dystrophy +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:1201032 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cerebral creatine deficiency syndromes +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2100226 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cerebral creatine deficiency syndromes +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2200842 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cerebral creatine deficiency syndrome +MONDO:0000468 third-degree atrioventricular block NANDO:2200214 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete atrio-ventricular block +MONDO:0000521 salivary gland carcinoma NANDO:2200076 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Salivary grand carcinoma +MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2100014 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial juvenile hyperuricemic nephropathy +MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2200139 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial juvenile hyperuricemic nephropathy +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200099 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primitive neuroectodermal tumour of the central nervous system +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200100 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primitive neuroectodermal tumour of the central nervous system +MONDO:0000721 xanthinuria NANDO:2200588 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Xanthinuria +MONDO:0000811 anomalous left coronary artery from the pulmonary artery NANDO:2200242 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Abnormal origin of left coronary artery from pulmonary artery +MONDO:0000839 obsolete congenital abnormality NANDO:1200957 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital anomalies syndrome +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia NANDO:2200002 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mature B-cell lymphoblastic leukemia +MONDO:0000875 adult acute monocytic leukemia NANDO:2200008 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute monocytic leukemia +MONDO:0000875 adult acute monocytic leukemia NANDO:2200009 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute monocytic leukemia +MONDO:0000903 myoclonus-dystonia syndrome NANDO:1200522 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 11 +MONDO:0000940 trypanosomiasis NANDO:2200774 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Trypanosomiasis +MONDO:0000984 thalassemia NANDO:2200626 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thalassemia +MONDO:0000995 familial periodic paralysis NANDO:1200502 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary periodic paralysis +MONDO:0001083 Fanconi renotubular syndrome NANDO:2100027 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fanconi syndrome +MONDO:0001083 Fanconi renotubular syndrome NANDO:2200187 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fanconi syndrome +MONDO:0001085 interstitial nephritis NANDO:2200136 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tubulointerstitial nephritis +MONDO:0001105 renal hypertension NANDO:2100016 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renovascular hypertension +MONDO:0001105 renal hypertension NANDO:2200141 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renovascular hypertension +MONDO:0001110 chronic pyelonephritis NANDO:2100012 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic pyelonephritis +MONDO:0001110 chronic pyelonephritis NANDO:2200137 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic pyelonephritis +MONDO:0001115 familial polycythemia NANDO:2100187 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial polycythemia +MONDO:0001115 familial polycythemia NANDO:2200644 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial polycythemia +MONDO:0001220 hypoparathyroidism NANDO:1200775 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoparathyroidism +MONDO:0001220 hypoparathyroidism NANDO:2100124 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoparathyroidism +MONDO:0001220 hypoparathyroidism NANDO:2200345 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoparathyroidism +MONDO:0001243 disseminated intravascular coagulation NANDO:2200639 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Disseminated intravascular coagulation +MONDO:0001261 Mobitz type II atrioventricular block NANDO:2100044 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mobitz type II second degree atrioventricular block +MONDO:0001261 Mobitz type II atrioventricular block NANDO:2200213 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mobitz type II second degree atrioventricular block +MONDO:0001298 congenital mitral valve insufficiency NANDO:2200303 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitral regurgitation +MONDO:0001324 obsolete hyperandrogenism NANDO:2200380 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperandrogenism +MONDO:0001328 thyroid hormone resistance syndrome NANDO:1200395 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Resistance to thyroid hormone +MONDO:0001328 thyroid hormone resistance syndrome NANDO:2100121 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Resistance to thyroid hormone +MONDO:0001328 thyroid hormone resistance syndrome NANDO:2200341 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Resistance to thyroid hormone +MONDO:0001336 familial hyperlipidemia NANDO:2200603 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial combined hyperlipidemia +MONDO:0001341 selective IgA deficiency disease NANDO:1200347 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Selective IgA deficiency +MONDO:0001341 selective IgA deficiency disease NANDO:2200720 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Selective IgA deficiency +MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:1200491 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Facioscapulohumeral muscular dystrophy +MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:2200859 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Facioscapulohumeral muscular dystrophy +MONDO:0001414 osteopoikilosis NANDO:2201024 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteopoikilosis +MONDO:0001422 primary aldosteronism NANDO:2200361 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aldosteronism +MONDO:0001437 pulmonary alveolar proteinosis NANDO:1200746 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary alveolar proteinosis +MONDO:0001493 chronic pulmonary heart disease NANDO:2200299 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic cor pulmonale +MONDO:0001516 spinal muscular atrophy NANDO:1200003 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal muscular atrophy +MONDO:0001516 spinal muscular atrophy NANDO:2100231 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal muscular atrophy +MONDO:0001516 spinal muscular atrophy NANDO:2200853 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal muscular atrophy +MONDO:0001558 Potter sequence NANDO:2200157 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Potter syndrome +MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2200547 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type I +MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2201168 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hurler Disease +MONDO:0001645 crescentic glomerulonephritis NANDO:1200714 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rapidly progressive glomerulonephritis +MONDO:0001645 crescentic glomerulonephritis NANDO:1200723 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crescentic glomerulonephritis +MONDO:0001676 erythropoietic protoporphyria NANDO:1200815 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Erythropoietic protoporphyria +MONDO:0001676 erythropoietic protoporphyria NANDO:2201266 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Erythropoietic protoporphyria +MONDO:0001700 megaloblastic anemia NANDO:2100176 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Megaloblastic anemia +MONDO:0001700 megaloblastic anemia NANDO:2200612 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Megaloblastic anemia +MONDO:0001705 pure red-cell aplasia NANDO:2100177 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pure red cell aplasia +MONDO:0001713 inherited aplastic anemia NANDO:1200302 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital aplastic anemia +MONDO:0001713 inherited aplastic anemia NANDO:2201275 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital aplastic anemia +MONDO:0001734 tuberous sclerosis NANDO:1200607 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tuberous sclerosis complex +MONDO:0001734 tuberous sclerosis NANDO:2200826 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tuberous sclerosis complex +MONDO:0001741 hyperparathyroidism NANDO:2100123 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperparathyroidism +MONDO:0001741 hyperparathyroidism NANDO:2200343 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperparathyroidism +MONDO:0001790 spinal cord lipoma NANDO:2200815 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal lipoma +MONDO:0001823 sick sinus syndrome NANDO:2100043 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sick sinus syndrome +MONDO:0001823 sick sinus syndrome NANDO:2200212 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sick sinus syndrome +MONDO:0001909 renal tubular acidosis NANDO:2100019 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renal tubular acidosis +MONDO:0001909 renal tubular acidosis NANDO:2200144 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renal tubular acidosis +MONDO:0001927 pulmonary valve insufficiency NANDO:2200305 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary valve regurgitation +MONDO:0001946 obsolete hyperestrogenism NANDO:2200379 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperestrogenism +MONDO:0001969 mixed gonadal dysgenesis NANDO:2200388 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mixed gonadal dysgenesis +MONDO:0001982 Niemann-Pick disease NANDO:2200561 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Niemann-Pick disease +MONDO:0002012 methylmalonic acidemia NANDO:1200793 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic acidemia +MONDO:0002012 methylmalonic acidemia NANDO:2200491 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic acidemia +MONDO:0002013 lymphangioma NANDO:2201032 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lymphangioma +MONDO:0002070 ventricular septal defect NANDO:2100087 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ventricular septal defect +MONDO:0002070 ventricular septal defect NANDO:2200270 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ventricular septal defect +MONDO:0002108 thyroid cancer NANDO:2200074 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thyroid cancer +MONDO:0002145 disorder of sexual differentiation NANDO:2100140 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Disorders of sex development +MONDO:0002241 factor XIII deficiency NANDO:2200681 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor XIII deficiency +MONDO:0002244 factor VII deficiency NANDO:2200675 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor VII deficiency +MONDO:0002247 factor X deficiency NANDO:2200678 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor X deficiency +MONDO:0002304 protein S deficiency NANDO:1201081 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Protein S deficiency +MONDO:0002304 protein S deficiency NANDO:2100198 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Protein S deficiency +MONDO:0002304 protein S deficiency NANDO:2200690 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Protein S deficiency +MONDO:0002327 intracranial cavernous angioma NANDO:2200852 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cavernous angioma of the brain and spinal cord +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:1200030 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic inflammatory demyelinating polyneuropathy +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2100251 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic inflammatory demyelinating polyneuropathy +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2200905 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic inflammatory demyelinating polyneuropathy +MONDO:0002412 disorder of glycogen metabolism NANDO:1200838 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease +MONDO:0002413 glycogen storage disease I NANDO:1200840 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type Ia +MONDO:0002413 glycogen storage disease I NANDO:1201018 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type I +MONDO:0002413 glycogen storage disease I NANDO:2200538 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type I +MONDO:0002429 idiopathic interstitial pneumonia NANDO:1200416 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic interstitial pneumonia +MONDO:0002429 idiopathic interstitial pneumonia NANDO:2200199 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic interstitial pneumonia +MONDO:0002442 long QT syndrome NANDO:2100053 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Long QT syndrome +MONDO:0002442 long QT syndrome NANDO:2200228 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Long qt syndrome +MONDO:0002461 membranoproliferative glomerulonephritis NANDO:1200737 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lobular membranoproliferative glomerulonephritis type I +MONDO:0002461 membranoproliferative glomerulonephritis NANDO:2200123 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Membranoproliferative glomerulonephritis +MONDO:0002470 photosensitive trichothiodystrophy NANDO:1200626 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature +MONDO:0002473 cystic kidney disease NANDO:2200172 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Simple renal cyst +MONDO:0002474 primary hyperoxaluria NANDO:2200503 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary hyperoxaluria +MONDO:0002540 childhood oligodendroglioma NANDO:2200089 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oligodendroglioma +MONDO:0002543 adult oligodendroglioma NANDO:2200089 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oligodendroglioma +MONDO:0002546 schwannoma NANDO:2200103 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurinoma +MONDO:0002561 lysosomal storage disease NANDO:1200055 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lysosomal storage disease +MONDO:0002561 lysosomal storage disease NANDO:2100165 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lysosomal storage disease +MONDO:0002568 tracheal stenosis NANDO:2200194 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tracheal stenosis +MONDO:0002623 pediatric osteosarcoma NANDO:2200048 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteosarcoma +MONDO:0002637 histiocytosis NANDO:2100005 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Histiocytosis +MONDO:0002676 adult fibrosarcoma NANDO:2200060 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fibrosarcoma +MONDO:0002678 pediatric fibrosarcoma NANDO:2200060 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fibrosarcoma +MONDO:0002714 central nervous system cancer NANDO:2100007 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central nervous system tumors +MONDO:0002718 central nervous system teratoma NANDO:2200104 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Teratoma of the central nervous system +MONDO:0002728 rhabdoid tumor NANDO:2200057 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Malignant rhabdoid tumour +MONDO:0002794 adult medulloblastoma NANDO:2200090 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Medulloblastoma +MONDO:0002797 childhood medulloblastoma NANDO:2200090 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Medulloblastoma +MONDO:0002807 bronchial neoplasm NANDO:2200081 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bronchial tumour +MONDO:0002869 heart valve disorder NANDO:2100105 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Valvular heart disease +MONDO:0002870 tricuspid valve insufficiency NANDO:2200301 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tricuspid valve regurgitation +MONDO:0002921 congenital structural myopathy NANDO:1200482 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Centronuclear myopathy +MONDO:0002921 congenital structural myopathy NANDO:2200867 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myotubular myopathy +MONDO:0002926 clear cell sarcoma NANDO:2200062 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Clear cell sarcoma +MONDO:0002933 osteosclerosis NANDO:2201022 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteosclerotic diseases +MONDO:0003002 dysgerminoma NANDO:2200066 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dysgerminoma +MONDO:0003057 pediatric meningioma NANDO:2200094 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Meningioma +MONDO:0003075 bilateral retinoblastoma NANDO:2201038 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bilateral retinoblastoma +MONDO:0003136 anti-basement membrane glomerulonephritis NANDO:1200717 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anti-GBM rapidly progressive glomerulonephritis +MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:1201029 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mesangial proliferative glomerulonephritis +MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:2200122 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mesangial proliferative glomerulonephritis +MONDO:0003157 disappearing bone disease NANDO:1200878 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lymphangiomatosis / Gorham-Stout disease +MONDO:0003157 disappearing bone disease NANDO:1200880 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp obsolete Gorham disease +MONDO:0003330 urinary tract obstruction NANDO:2200178 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Obstructive uropathy +MONDO:0003517 mature teratoma NANDO:2200105 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mature teratoma +MONDO:0003523 gastrin-producing neuroendocrine tumor NANDO:2200395 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gastrinoma +MONDO:0003585 adult liposarcoma NANDO:2200065 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Liposarcoma +MONDO:0003587 pediatric liposarcoma NANDO:2200065 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Liposarcoma +MONDO:0003659 pediatric lymphoma NANDO:2100004 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lymphoma +MONDO:0003660 adult lymphoma NANDO:2100004 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lymphoma +MONDO:0003664 hemolytic anemia NANDO:2200636 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hemolytic anemia +MONDO:0003689 familial hemolytic anemia NANDO:2100183 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary hemolytic anemia +MONDO:0003759 childhood ovarian yolk sac tumor NANDO:2200069 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Yolk sac tumour +MONDO:0003778 inborn error of immunity NANDO:1200320 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary immunodeficiency syndrome +MONDO:0003778 inborn error of immunity NANDO:2100204 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Immunodeficiency +MONDO:0003832 complement deficiency NANDO:1200364 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Inherited deficiency of complement system +MONDO:0003832 complement deficiency NANDO:2200776 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Inherited deficiency of complement system +MONDO:0003900 connective tissue disorder NANDO:2100172 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Connective tissue disorder +MONDO:0003924 adrenal cortex adenoma NANDO:2200352 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adrenal adenoma +MONDO:0003947 hyper-IgM syndrome NANDO:1200345 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyper-IgM syndrome +MONDO:0003947 hyper-IgM syndrome NANDO:2200718 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyper-IgM syndrome +MONDO:0003964 myositis ossificans NANDO:1200871 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fibrodysplasia ossificans progressiva +MONDO:0003964 myositis ossificans NANDO:2201020 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fibrodysplasia ossificans progressiva +MONDO:0004000 childhood pilocytic astrocytoma NANDO:2200084 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pilocytic astrocytoma +MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:1200173 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial diseases +MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:2100163 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial diseases +MONDO:0004218 childhood germ cell brain tumor NANDO:2200108 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intracranial germ cell tumour +MONDO:0004335 digestive system disorder NANDO:1100013 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gastrointestinal disease +MONDO:0004355 childhood leukemia NANDO:2100002 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leukemia +MONDO:0004425 hyperthyroidism NANDO:2100119 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperthyroidism +MONDO:0004425 hyperthyroidism NANDO:2200329 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperthyroidism +MONDO:0004471 bacterial arthritis NANDO:2200437 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0004591 impetigo herpetiformis NANDO:1200243 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Impetigo herpetiformis +MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:1200368 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal dominant polycystic kidney disease +MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:2200153 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal dominant polycystic kidney disease +MONDO:0004737 homocystinuria NANDO:1201038 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Homocystinuria +MONDO:0004737 homocystinuria NANDO:2200474 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Homocystinuria +MONDO:0004739 urea cycle disorder NANDO:1200802 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Urea cycle disorder +MONDO:0004782 diabetes insipidus NANDO:2100117 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diabetes insipidus +MONDO:0004822 bronchiectasis NANDO:2100036 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bronchiectasis +MONDO:0004822 bronchiectasis NANDO:2200206 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bronchiectasis +MONDO:0004890 partial central choroid dystrophy NANDO:1200939 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central areolar choroidal dystrophy +MONDO:0004933 hypoplastic left heart syndrome NANDO:1200705 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoplastic left heart syndrome +MONDO:0004933 hypoplastic left heart syndrome NANDO:2100071 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoplastic left heart syndrome +MONDO:0004933 hypoplastic left heart syndrome NANDO:2200249 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoplastic left heart syndrome +MONDO:0004952 Hodgkins lymphoma NANDO:2200024 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hodgkin lymphoma +MONDO:0004955 obsolete metabolic syndrome NANDO:1100002 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Metabolic disease +MONDO:0004963 T-cell acute lymphoblastic leukemia NANDO:2200003 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp T-cell lymphoblastic leukemia +MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified NANDO:2200028 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peripheral T-cell lymphoma, not otherwise specified +MONDO:0004974 adrenal gland pheochromocytoma NANDO:2200078 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pheochromocytoma +MONDO:0004976 amyotrophic lateral sclerosis NANDO:1200002 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Amyotrophic lateral sclerosis +MONDO:0004977 angioimmunoblastic T-cell lymphoma NANDO:2200029 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Angioimmunoblastic T-cell lymphoma +MONDO:0004978 obsolete aortic stenosis NANDO:2100098 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aortic stenosis +MONDO:0004981 atrial fibrillation NANDO:2100051 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atrial fibrillation +MONDO:0004981 atrial fibrillation NANDO:2200226 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atrial fibrillation +MONDO:0004995 cardiovascular disorder NANDO:1100005 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cardiovascular disease +MONDO:0004997 chondroblastoma NANDO:2200051 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chondroblastoma +MONDO:0005006 clear cell sarcoma of kidney NANDO:2200044 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Clear cell sarcoma of the kidney +MONDO:0005011 Crohn disease NANDO:1200444 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crohn's disease +MONDO:0005011 Crohn disease NANDO:1200446 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Colonic Crohn's disease +MONDO:0005011 Crohn disease NANDO:2200921 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crohn's disease +MONDO:0005015 diabetes mellitus NANDO:2100157 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diabetes +MONDO:0005015 diabetes mellitus NANDO:2100158 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diabetes +MONDO:0005021 dilated cardiomyopathy NANDO:2100057 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dilated cardiomyopathy +MONDO:0005021 dilated cardiomyopathy NANDO:2200232 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dilated cardiomyopathy +MONDO:0005029 essential thrombocythemia NANDO:2100194 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Essential thrombocythemia +MONDO:0005029 essential thrombocythemia NANDO:2200655 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Essential thrombocythemia +MONDO:0005035 ganglioneuroblastoma NANDO:2200041 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ganglioneuroblastoma +MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200286 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypertrophic cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200288 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypertrophic obstructive cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2100054 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypertrophic cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2200229 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypertrophic cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2201042 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypertrophic obstructive cardiomyopathy +MONDO:0005046 immune system disorder NANDO:1100004 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Immune system disease +MONDO:0005046 immune system disorder NANDO:2100202 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Immune system disease +MONDO:0005058 leiomyosarcoma NANDO:2200064 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leiomyosarcoma +MONDO:0005059 leukemia NANDO:2100002 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leukemia +MONDO:0005060 liposarcoma NANDO:2200065 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Liposarcoma +MONDO:0005062 lymphoma NANDO:2100004 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lymphoma +MONDO:0005066 metabolic disease NANDO:1100002 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Metabolic disease +MONDO:0005068 myocardial infarction NANDO:2200248 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myocardial infarction +MONDO:0005072 neuroblastoma NANDO:2200040 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuroblastoma +MONDO:0005086 renal cell carcinoma NANDO:2200045 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renal cell carcinoma +MONDO:0005087 respiratory system disorder NANDO:1100010 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Respiratory disease +MONDO:0005093 skin disorder NANDO:2100281 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Skin disease +MONDO:0005100 systemic sclerosis NANDO:1200277 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Systemic sclerosis +MONDO:0005100 systemic sclerosis NANDO:2200429 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Systemic sclerosis +MONDO:0005101 ulcerative colitis NANDO:1200449 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ulcerative colitis +MONDO:0005101 ulcerative colitis NANDO:2200920 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ulcerative colitis +MONDO:0005102 undifferentiated (embryonal) sarcoma NANDO:2200058 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Undifferentiated sarcoma +MONDO:0005105 melanoma NANDO:2200077 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Malignant melanoma +MONDO:0005109 HIV infectious disease NANDO:2200810 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp HIV infection +MONDO:0005147 type 1 diabetes mellitus NANDO:2200460 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diabetes mellitus type 1 +MONDO:0005148 type 2 diabetes mellitus NANDO:2200461 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diabetes mellitus type 2 +MONDO:0005151 endocrine system disorder NANDO:1100009 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Endocrine disease +MONDO:0005151 endocrine system disorder NANDO:2100109 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Endocrine disease +MONDO:0005152 hypopituitarism NANDO:1200387 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypopituitarism syndrome +MONDO:0005152 hypopituitarism NANDO:2100110 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypopituitarism +MONDO:0005155 cirrhosis of liver NANDO:2100268 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Liver cirrhosis +MONDO:0005155 cirrhosis of liver NANDO:2200937 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Liver cirrhosis +MONDO:0005160 aortic aneurysm NANDO:2100101 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aortic aneurysm +MONDO:0005160 aortic aneurysm NANDO:2200294 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aortic aneurysm +MONDO:0005164 fibrosarcoma NANDO:2200060 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fibrosarcoma +MONDO:0005180 Parkinson disease NANDO:1200010 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Parkinson's disease +MONDO:0005181 progressive external ophthalmoplegia NANDO:1200174 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic progressive external ophthalmoplegia +MONDO:0005201 restrictive cardiomyopathy NANDO:1200292 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy NANDO:1200293 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy NANDO:2100058 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy NANDO:2200233 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Restrictive cardiomyopathy +MONDO:0005204 primary antiphospholipid syndrome NANDO:1200267 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary antiphospholipid antibody syndrome +MONDO:0005207 choriocarcinoma NANDO:2200070 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Choriocarcinoma +MONDO:0005212 rhabdomyosarcoma NANDO:2200056 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rhabdomyosarcoma +MONDO:0005223 acute myeloid leukemia with minimal differentiation NANDO:2200004 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute myeloid leukemia with minimal differentiation +MONDO:0005224 acute myeloblastic leukemia without maturation NANDO:2200005 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute myeloid leukemia without maturation +MONDO:0005265 inflammatory bowel disease NANDO:2100259 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Inflammatory bowel disease +MONDO:0005300 chronic kidney disease NANDO:2100008 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic kidney disease +MONDO:0005300 chronic kidney disease NANDO:2100023 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic renal failure +MONDO:0005301 multiple sclerosis NANDO:1200023 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple sclerosis +MONDO:0005301 multiple sclerosis NANDO:2100250 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple sclerosis +MONDO:0005301 multiple sclerosis NANDO:2200904 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple sclerosis +MONDO:0005306 ankylosing spondylitis NANDO:1200870 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ankylosing spondylitis +MONDO:0005310 atrial flutter NANDO:2100050 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atrial flutter +MONDO:0005310 atrial flutter NANDO:2200218 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple atrial tachycardia +MONDO:0005310 atrial flutter NANDO:2200225 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atrial flutter +MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:1200024 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Relapsing-remitting multiple sclerosis +MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:2201319 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Relapsing-remitting multiple sclerosis +MONDO:0005342 IgA glomerulonephritis NANDO:1200366 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IgA nephropathy +MONDO:0005342 IgA glomerulonephritis NANDO:2200121 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IgA nephropathy +MONDO:0005361 eosinophilic esophagitis NANDO:1200456 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Eosinophilic esophagitis +MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:1200722 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Focal segmental glomerulosclerosis +MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:2200113 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Focal segmental glomerulosclerosis +MONDO:0005364 Graves disease NANDO:2200328 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Basedow disease +MONDO:0005369 carcinoid tumor NANDO:2200396 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carcinoid syndrome +MONDO:0005376 membranous glomerulonephritis NANDO:1200721 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Membranous nephropathy +MONDO:0005376 membranous glomerulonephritis NANDO:2200114 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Membranous nephropathy +MONDO:0005377 nephrotic syndrome NANDO:2100009 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephrotic syndrome +MONDO:0005381 bone disorder NANDO:2100291 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bone disease +MONDO:0005381 bone disorder NANDO:2100293 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bone disease +MONDO:0005385 vascular disorder NANDO:2100294 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vascular disease +MONDO:0005387 primary ovarian failure NANDO:2100139 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypergonadotropic hypogonadism +MONDO:0005388 primary biliary cholangitis NANDO:1200439 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary biliary cholangitis +MONDO:0005420 hypothyroidism NANDO:2100120 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypothyroidism +MONDO:0005429 prion disease NANDO:1200186 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Prion disease +MONDO:0005437 testicular dysgenesis syndrome NANDO:2200383 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Testicular dysgenesis +MONDO:0005439 familial hypercholesterolemia NANDO:2200602 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial hypercholesterolemia +MONDO:0005440 embryonal carcinoma NANDO:2200067 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Embryonal carcinoma +MONDO:0005477 ventricular tachycardia NANDO:2100049 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ventricular tachycardia +MONDO:0005479 atrial tachycardia NANDO:2200218 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple atrial tachycardia +MONDO:0005508 hereditary multiple osteochondromas NANDO:2200049 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteochondromatosis +MONDO:0005508 hereditary multiple osteochondromas NANDO:2201014 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple cartilaginous exostosis +MONDO:0005508 hereditary multiple osteochondromas NANDO:2201015 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Enchondromatosis +MONDO:0005532 Crohn's colitis NANDO:1200446 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Colonic Crohn's disease +MONDO:0005533 distal colitis NANDO:1200451 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Left-sided colitis +MONDO:0005534 ileocolitis NANDO:1200447 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crohn ileocolitis +MONDO:0005536 pancolitis NANDO:1200450 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pan-ulcerative colitis +MONDO:0005539 small bowel Crohn disease NANDO:1200445 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp small bowel Crohn disease +MONDO:0005549 renal cell adenocarcinoma NANDO:2200045 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renal cell carcinoma +MONDO:0005554 rheumatic disorder NANDO:2100151 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Collagen disease +MONDO:0005554 rheumatic disorder NANDO:2100152 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Collagen disease +MONDO:0005556 lupus nephritis NANDO:2200128 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lupus nephritis +MONDO:0005570 hematologic disorder NANDO:1100006 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Blood disease +MONDO:0005570 hematologic disorder NANDO:2100175 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Blood disease +MONDO:0005624 atrophic thyroiditis NANDO:2200336 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atrophic thyroiditis +MONDO:0005648 aortic valve insufficiency NANDO:2200307 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aortic valve regurgitation +MONDO:0005711 congenital diaphragmatic hernia NANDO:1200911 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital diaphragmatic hernia +MONDO:0005711 congenital diaphragmatic hernia NANDO:2100040 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital diaphragmatic hernia +MONDO:0005711 congenital diaphragmatic hernia NANDO:2200210 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital diaphragmatic hernia +MONDO:0005713 obsolete MONDO:0005713 NANDO:2200890 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital rubella syndrome +MONDO:0005715 congenital toxoplasmosis NANDO:2200892 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital toxoplasmosis +MONDO:0005744 yolk sac tumor NANDO:2200069 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Yolk sac tumour +MONDO:0005764 follicular dendritic cell sarcoma NANDO:2200034 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Follicular dendritic cell sarcoma +MONDO:0005775 G6PD deficiency NANDO:2200627 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glucose-6-phosphate dehydrogenase deficiency +MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2100143 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperinsulinemic hypoglycemia +MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2200399 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hyperinsulinemia +MONDO:0005804 hyperprolactinemia NANDO:2100115 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperprolactinemia +MONDO:0005804 hyperprolactinemia NANDO:2200322 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperprolactinemia +MONDO:0005810 infectious mononucleosis NANDO:1200668 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pfeiffer syndrome +MONDO:0005810 infectious mononucleosis NANDO:2200976 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pfeiffer syndrome +MONDO:0005813 interdigitating dendritic cell sarcoma NANDO:2200035 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Interdigitating dendritic cell sarcoma +MONDO:0005827 lipoatrophic diabetes NANDO:2200465 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lipoatrophic diabetes +MONDO:0005852 mitral valve stenosis NANDO:1200963 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital mitral stenosis +MONDO:0005852 mitral valve stenosis NANDO:2200302 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitral valve stenosis +MONDO:0005854 mixed connective tissue disease NANDO:1200278 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mixed connective tissue disease +MONDO:0005854 mixed connective tissue disease NANDO:2200430 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mixed connective tissue disease +MONDO:0005965 spinal stenosis NANDO:1200372 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Coexisting cervical and lumbar spinal stenosis +MONDO:0005997 tricuspid valve stenosis NANDO:2200300 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tricuspid valve stenosis +MONDO:0006007 vesicoureteral reflux NANDO:2200179 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vesicoureteral reflux +MONDO:0006055 sex cord-stromal tumor NANDO:2200072 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sex-cord stromal tumour +MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200385 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Growth hormone secreting pituitary adenoma +MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200386 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone +MONDO:0006287 malignancy in giant cell tumor of bone NANDO:2200052 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Malignancy in giant cell tumour of bone +MONDO:0006373 pituitary gland adenoma NANDO:2200095 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pituitary adenoma +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy NANDO:2200039 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rosai-Dorfman disease +MONDO:0006444 teratoma with malignant transformation NANDO:2200107 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Teratoma with malignant transformation +MONDO:0006451 thymic carcinoma NANDO:2200079 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Malignant thymoma +MONDO:0006536 congenital generalized lipodystrophy NANDO:1200859 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Generalized congenital lipodystrophy +MONDO:0006541 epidermolysis bullosa NANDO:1200234 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epidermolysis bullosa +MONDO:0006541 epidermolysis bullosa NANDO:2100284 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epidermolysis bullosa +MONDO:0006541 epidermolysis bullosa NANDO:2201000 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epidermolysis bullosa +MONDO:0006573 lipodystrophy NANDO:1200858 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lipodystrophy +MONDO:0006573 lipodystrophy NANDO:2100147 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lipodystrophy +MONDO:0006573 lipodystrophy NANDO:2200404 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lipodystrophy +MONDO:0006594 pemphigus NANDO:1200228 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pemphigus +MONDO:0006639 adrenal cortex carcinoma NANDO:2200073 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adrenocortical carcinoma +MONDO:0006656 aortitis NANDO:1200251 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Takayasu arteritis +MONDO:0006656 aortitis NANDO:2200423 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Takayasu arteritis +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2100130 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Apparent mineralocorticoid excess syndrome +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2200362 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Apparent mineralocorticoid excess syndrome +MONDO:0006664 atrial septal defect NANDO:2100085 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atrial septal defect +MONDO:0006689 obsolete carcinoid syndrome NANDO:2200396 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carcinoid syndrome +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:1200030 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic inflammatory demyelinating polyneuropathy +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2100251 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic inflammatory demyelinating polyneuropathy +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2200905 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic inflammatory demyelinating polyneuropathy +MONDO:0006711 constrictive pericarditis NANDO:2100064 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Constrictive pericarditis +MONDO:0006711 constrictive pericarditis NANDO:2200239 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Constrictive pericarditis +MONDO:0006715 coronary stenosis NANDO:2200246 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Stenosis or atresia of coronary artery +MONDO:0006779 heart aneurysm NANDO:2200234 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aneurysm of ventricle +MONDO:0006785 obsolete Henoch-Schoenlein purpura NANDO:1200741 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Henoch-Schonlein purpura nephritis +MONDO:0006795 hypersplenism NANDO:2200637 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypersplenism +MONDO:0006802 inappropriate ADH syndrome NANDO:1200376 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Syndrome of inappropriate secretion of antidiuretic hormone +MONDO:0006802 inappropriate ADH syndrome NANDO:2100116 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Syndrome of inappropriate secretion of antidiuretic hormone +MONDO:0006802 inappropriate ADH syndrome NANDO:2200323 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Syndrome of inappropriate secretion of antidiuretic hormone +MONDO:0006823 Klinefelter syndrome NANDO:2200386 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Klinefelter syndrome +MONDO:0006835 lipoid nephrosis NANDO:1200720 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Minimal change nephrotic syndrome +MONDO:0006835 lipoid nephrosis NANDO:2200112 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Minimal change nephrotic syndrome +MONDO:0006935 pulmonary subvalvular stenosis NANDO:2100092 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Subvalvular pulmonary stenosis +MONDO:0006935 pulmonary subvalvular stenosis NANDO:2200276 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Subvalvular pulmonary stenosis +MONDO:0006936 pulmonary valve stenosis NANDO:2200304 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary valve stenosis +MONDO:0006947 renovascular hypertension NANDO:2100016 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renovascular hypertension +MONDO:0006947 renovascular hypertension NANDO:2200141 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renovascular hypertension +MONDO:0006987 subvalvular aortic stenosis NANDO:2100093 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Subvalvular aortic stenosis +MONDO:0006987 subvalvular aortic stenosis NANDO:2200277 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Subvalvular aortic stenosis +MONDO:0007012 variant Creutzfeldt-Jakob disease NANDO:1200194 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Variant Creutzfeldt-Jakob disease +MONDO:0007029 branchio-oto-renal syndrome NANDO:1200675 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Branchio-oto-renal syndrome +MONDO:0007032 prune belly syndrome NANDO:2200185 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Prune belly syndrome +MONDO:0007037 Achondroplasia NANDO:1200877 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Achondroplasia +MONDO:0007037 Achondroplasia NANDO:2201009 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Achondroplasia +MONDO:0007039 neurofibromatosis type 2 NANDO:1200227 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurofibromatosis type 2 +MONDO:0007041 Apert syndrome NANDO:1200667 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Apert syndrome +MONDO:0007041 Apert syndrome NANDO:2200844 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Apert syndrome +MONDO:0007042 Saethre-Chotzen syndrome NANDO:2200848 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Saethre-Chotzen syndrome +MONDO:0007043 Pfeiffer syndrome NANDO:1200668 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pfeiffer syndrome +MONDO:0007043 Pfeiffer syndrome NANDO:2200976 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pfeiffer syndrome +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:1200323 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adenosine deaminase deficiency +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:2200696 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adenosine deaminase deficiency +MONDO:0007078 Pseudohypoparathyroidism type 1A NANDO:1201075 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoparathyroidism type 1A +MONDO:0007097 Finnish type amyloidosis NANDO:1201063 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial amyloid polyneuropathy type 4 +MONDO:0007099 familial visceral amyloidosis NANDO:2200138 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Amyloid nephropathy +MONDO:0007100 familial amyloid neuropathy NANDO:1200214 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial amyloid polyneuropathy +MONDO:0007100 familial amyloid neuropathy NANDO:1201060 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial amyloid polyneuropathy type 1 +MONDO:0007109 congenital dyserythropoietic anemia type 3 NANDO:1200888 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital dyserythropoietic anemia type III +MONDO:0007113 Angelman syndrome NANDO:1200686 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Angelman syndrome +MONDO:0007113 Angelman syndrome NANDO:2200960 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Angelman syndrome +MONDO:0007130 congenital total pulmonary venous return anomaly NANDO:2200271 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Total anomalous pulmonary venous connection +MONDO:0007140 obsolete antiphospholipid syndrome NANDO:1200271 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Antiphospholipid antibody-related disease +MONDO:0007140 obsolete antiphospholipid syndrome NANDO:2200421 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anti-phospholipid antibody syndrome +MONDO:0007154 arteriovenous malformations of the brain NANDO:2100229 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cerebral arteriovenous malformation +MONDO:0007154 arteriovenous malformations of the brain NANDO:2200851 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cerebral arteriovenous malformation +MONDO:0007160 Stickler syndrome type 1 NANDO:2201354 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Stickler syndrome type 1 +MONDO:0007182 Machado-Joseph disease NANDO:1200041 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar ataxia type 3 +MONDO:0007187 nevoid basal cell carcinoma syndrome NANDO:2200828 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gorlin syndrome +MONDO:0007191 Behcet disease NANDO:1200284 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Behcet's disease +MONDO:0007191 Behcet disease NANDO:2200422 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Behcet's disease +MONDO:0007203 blue rubber bleb nevus NANDO:2201027 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Blue rubber bleb nevus syndrome +MONDO:0007256 hepatocellular carcinoma NANDO:2200047 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatocellular carcinoma +MONDO:0007294 central core myopathy NANDO:1200479 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central core disease +MONDO:0007294 central core myopathy NANDO:2200870 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central core disease +MONDO:0007296 spinocerebellar ataxia type 31 NANDO:1200044 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar ataxia type 31 +MONDO:0007315 cherubism NANDO:2200444 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cherubism +MONDO:0007318 Alagille syndrome NANDO:1200918 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alagille syndrome +MONDO:0007318 Alagille syndrome NANDO:1200919 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Typical Alagille syndrome +MONDO:0007318 Alagille syndrome NANDO:2200931 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alagille syndrome +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type NANDO:2201359 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chondrodysplasia punctata, tibial-metacarpal type +MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 NANDO:1200519 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 8 +MONDO:0007345 aorta coarctation NANDO:2200283 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Coarctation of the aorta +MONDO:0007345 aorta coarctation NANDO:2200284 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Coarctation complex +MONDO:0007361 C1 inhibitor deficiency NANDO:1200365 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary angioedema +MONDO:0007361 C1 inhibitor deficiency NANDO:2200795 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary angioedema +MONDO:0007363 congenital contractural arachnodactyly NANDO:2201026 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Beals syndrome +MONDO:0007369 hereditary coproporphyria NANDO:1200813 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary coproporphyria +MONDO:0007369 hereditary coproporphyria NANDO:2201264 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary coproporphyria +MONDO:0007403 inherited Creutzfeldt-Jakob disease NANDO:1200189 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial Creutzfeldt-Jakob disease +MONDO:0007404 Cri-du-chat syndrome NANDO:1200684 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 5p deletion syndrome +MONDO:0007404 Cri-du-chat syndrome NANDO:2200961 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 5p- syndrome +MONDO:0007405 Crouzon syndrome NANDO:1200666 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crouzon's syndrome +MONDO:0007405 Crouzon syndrome NANDO:2200845 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crouzon disease +MONDO:0007414 Gorham-Stout disease NANDO:1200878 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lymphangiomatosis / Gorham-Stout disease +MONDO:0007414 Gorham-Stout disease NANDO:1200880 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp obsolete Gorham disease +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy NANDO:1200545 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy +MONDO:0007435 dentatorubral-pallidoluysian atrophy NANDO:1200043 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dentatorubropallidoluysian atrophy +MONDO:0007450 neurohypophyseal diabetes insipidus NANDO:2201050 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial central diabetes insipidus +MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2200461 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diabetes mellitus type 2 +MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2201069 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maturity-onset diabetes of the young type 1 +MONDO:0007453 maturity-onset diabetes of the young type 2 NANDO:2201070 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maturity-onset diabetes of the young type 2 +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:1200512 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 1 +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2100240 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia musculorum deformans +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2200884 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia musculorum deformans +MONDO:0007493 torsion dystonia 4 NANDO:1200515 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 4 +MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 NANDO:1200521 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 10 +MONDO:0007495 dystonia 5 NANDO:1200516 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 5 +MONDO:0007496 dystonia 12 NANDO:1200523 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 12 +MONDO:0007496 dystonia 12 NANDO:1200524 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rapid-onset dystonia-parkinsonism +MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:1200646 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, classical type +MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:2201256 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, classical type +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:1200647 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, hypermobility type +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:2201257 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, hypermobility type +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:1200650 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, arthrochalasis type +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:2201260 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, arthrochalasis type +MONDO:0007534 Beckwith-Wiedemann syndrome NANDO:2200959 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Beckwith-Wiedemann syndrome +MONDO:0007540 multiple endocrine neoplasia type 1 NANDO:2200405 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple endocrine neoplasia type 1 +MONDO:0007542 Camurati-Engelmann disease NANDO:2200970 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Camurati-Engelmann disease +MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:1200871 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fibrodysplasia ossificans progressiva +MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:2201020 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fibrodysplasia ossificans progressiva +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome NANDO:1200190 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gerstmann-Straussler-Scheinker syndrome +MONDO:0007669 renal cysts and diabetes syndrome NANDO:2201073 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maturity-onset diabetes of the young type 5 +MONDO:0007671 fibronectin glomerulopathy NANDO:2200133 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glomerulopathy with fibronectin deposits, fibronectin nephropathy +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:1200030 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic inflammatory demyelinating polyneuropathy +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2100251 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic inflammatory demyelinating polyneuropathy +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2200905 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic inflammatory demyelinating polyneuropathy +MONDO:0007699 Hashimoto thyroiditis NANDO:2200335 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hashimoto disease +MONDO:0007708 Kasabach-Merritt syndrome NANDO:2100297 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kasabach-Merritt syndrome +MONDO:0007708 Kasabach-Merritt syndrome NANDO:2201035 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kasabach-Merritt syndrome +MONDO:0007727 autosomal dominant familial periodic fever NANDO:1200472 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp TNF receptor-associated periodic fever syndrome +MONDO:0007727 autosomal dominant familial periodic fever NANDO:2200433 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp TNF receptor-associated periodic fever syndrome +MONDO:0007739 Huntington disease NANDO:1200012 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Huntington's disease +MONDO:0007741 congenital hydronephrosis NANDO:2200176 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ureteropelvic junction obstruction +MONDO:0007750 hypercholesterolemia, familial, 1 NANDO:2200602 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial hypercholesterolemia +MONDO:0007793 hypochondroplasia NANDO:2201010 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypochondroplasia +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia NANDO:1200382 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic hypogonadotropic hypogonadism +MONDO:0007803 multiple system atrophy NANDO:1200034 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple system atrophy +MONDO:0007813 superficial epidermolytic ichthyosis NANDO:1200613 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Superficial epidermolytic ichthyosis +MONDO:0007813 superficial epidermolytic ichthyosis NANDO:2200990 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Superficial epidermolytic ichthyosis +MONDO:0007827 inclusion body myositis NANDO:1200032 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sporadic inclusion body myositis +MONDO:0007827 inclusion body myositis NANDO:1200218 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Distal myopathy with rimmed vacuoles +MONDO:0007864 angioosteohypertrophic syndrome NANDO:1200884 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Klippel-Trenaunay-Weber syndrome +MONDO:0007864 angioosteohypertrophic syndrome NANDO:2201030 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Klippel-Trenaunay-Weber syndrome +MONDO:0007875 Larsen syndrome NANDO:2201019 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Larsen syndrome +MONDO:0007879 larynx atresia NANDO:2200190 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Laryngeal stenosis +MONDO:0007895 platyspondylic dysplasia, Torrance type NANDO:2201347 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Platyspondylic dysplasia, Torrance type +MONDO:0007896 acute monocytic leukemia NANDO:2200008 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute monocytic leukemia +MONDO:0007896 acute monocytic leukemia NANDO:2200009 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute monocytic leukemia +MONDO:0007915 systemic lupus erythematosus NANDO:1200272 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Systemic lupus erythematosus +MONDO:0007915 systemic lupus erythematosus NANDO:2200416 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Systemic lupus erythematosus +MONDO:0007947 Marfan syndrome NANDO:1200644 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Marfan syndrome +MONDO:0007947 Marfan syndrome NANDO:2200968 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Marfan syndrome +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:1200893 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epstein syndrome +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2100193 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp May-Hegglin anomaly +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200127 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epstein syndrome +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200654 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp May-Hegglin anomaly +MONDO:0007959 medulloblastoma NANDO:2200090 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Medulloblastoma +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:1200459 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Megacystis-microcolon-intestinal hypoperistalsis syndrome +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:2200947 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Megacystis-microcolon-intestinal hypoperistalsis syndrome +MONDO:0007970 melorheostosis NANDO:2201364 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Melorheostosis +MONDO:0007987 Kniest dysplasia NANDO:2201350 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kniest dysplasia +MONDO:0008006 Mobius syndrome NANDO:1200559 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Moebius syndrome +MONDO:0008006 Mobius syndrome NANDO:2200980 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Moebius syndrome +MONDO:0008029 Bethlem myopathy NANDO:1200220 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bethlem Myopathy +MONDO:0008039 tropical spastic paraparesis NANDO:1200206 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp HTLV-1-associated myelopathy +MONDO:0008054 juvenile dermatomyositis NANDO:2200418 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile dermatomyositis +MONDO:0008061 nail-patella syndrome NANDO:1200967 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nail-patella syndrome +MONDO:0008061 nail-patella syndrome NANDO:2200132 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nail-patella syndrome +MONDO:0008082 multiple endocrine neoplasia type 2B NANDO:2201053 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple endocrine neoplasia type 2B +MONDO:0008090 cyclic hematopoiesis NANDO:1200354 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cyclic neutropenia +MONDO:0008090 cyclic hematopoiesis NANDO:2200746 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cyclic neutropenia +MONDO:0008116 oculopharyngeal muscular dystrophy NANDO:1200493 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oculopharyngeal muscular dystrophy +MONDO:0008119 spinocerebellar ataxia type 1 NANDO:1200045 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar ataxia type 1 +MONDO:0008120 obsolete spinocerebellar ataxia type 7 NANDO:1200047 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar ataxia type 7 +MONDO:0008145 Ollier disease NANDO:2200049 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteochondromatosis +MONDO:0008145 Ollier disease NANDO:2201015 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Enchondromatosis +MONDO:0008185 hereditary chronic pancreatitis NANDO:1200921 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary pancreatitis +MONDO:0008185 hereditary chronic pancreatitis NANDO:2200942 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary pancreatitis +MONDO:0008195 paramyotonia congenita of Von Eulenburg NANDO:1200501 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Paramyotonia congenita +MONDO:0008201 Perry syndrome NANDO:1200547 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Perry syndrome +MONDO:0008218 Hailey-Hailey disease NANDO:1200631 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Benign familial pemphigus +MONDO:0008219 pemphigus vulgaris NANDO:1200229 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pemphigus vulgaris +MONDO:0008221 prolidase deficiency NANDO:2200472 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Prolidase deficiency +MONDO:0008222 Andersen-Tawil syndrome NANDO:1200827 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type IV +MONDO:0008223 hypokalemic periodic paralysis NANDO:1200503 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary hypokalemic periodic paralysis +MONDO:0008224 hyperkalemic periodic paralysis NANDO:1200504 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary hyperkalemic periodic paralysis +MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2200406 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple endocrine neoplasia type 2 +MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2201052 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple endocrine neoplasia type 2A +MONDO:0008260 Kindler syndrome NANDO:1200239 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kindler syndrome +MONDO:0008280 Peutz-Jeghers syndrome NANDO:2200917 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peutz-Jeghers syndrome +MONDO:0008283 Cronkhite-Canada syndrome NANDO:1200901 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cronkhite-Canada syndrome +MONDO:0008294 acute intermittent porphyria NANDO:1200812 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute intermittent porphyria +MONDO:0008294 acute intermittent porphyria NANDO:2201263 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute intermittent porphyria +MONDO:0008297 variegate porphyria NANDO:1200814 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Variegate porphyria +MONDO:0008297 variegate porphyria NANDO:2201265 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Variegate porphyria +MONDO:0008300 Prader-Willi syndrome NANDO:1200678 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Prader-Willi syndrome +MONDO:0008300 Prader-Willi syndrome NANDO:2200411 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Prader-Willi syndrome +MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:1201007 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hutchinson-Gilford syndrome +MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:2200833 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hutchinson-Gilford syndrome +MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:1200815 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Erythropoietic protoporphyria +MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:2201266 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Erythropoietic protoporphyria +MONDO:0008322 pseudoachondroplasia NANDO:2201018 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudoachondroplasia +MONDO:0008323 Liddle syndrome NANDO:2100131 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Liddle syndrome +MONDO:0008323 Liddle syndrome NANDO:2200363 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Liddle syndrome +MONDO:0008332 platelet-type von Willebrand disease NANDO:2200668 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Platelet-type von Willebrand disease +MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:1200708 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary atresia with ventricular septal defect +MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:2200252 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary atresia with ventricular septal defect +MONDO:0008345 obsolete idiopathic pulmonary fibrosis NANDO:1200417 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic pulmonary fibrosis +MONDO:0008346 pulmonary hemosiderosis NANDO:1200751 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alveolar hypoventilation syndrome +MONDO:0008346 pulmonary hemosiderosis NANDO:2100037 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic pulmonary hemosiderosis +MONDO:0008346 pulmonary hemosiderosis NANDO:2200207 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic pulmonary hemosiderosis +MONDO:0008367 red cell phospholipid defect with hemolysis NANDO:2200634 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Xerocytosis with high phosphatidylcholine hemolytic anemia +MONDO:0008380 retinoblastoma NANDO:2200042 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Retinoblastoma +MONDO:0008428 septooptic dysplasia NANDO:1200560 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Septo-optic dysplasia / De Morsier syndrome +MONDO:0008428 septooptic dysplasia NANDO:1200561 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Septo-optic dysplasia +MONDO:0008428 septooptic dysplasia NANDO:2200820 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Septo-optic dysplasia +MONDO:0008434 Smith-Magenis syndrome NANDO:1200687 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Smith-Magenis syndrome +MONDO:0008434 Smith-Magenis syndrome NANDO:2200954 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Smith-Magenis syndrome +MONDO:0008457 spinocerebellar ataxia type 6 NANDO:1200042 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar ataxia type 6 +MONDO:0008458 spinocerebellar ataxia type 2 NANDO:1200046 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar ataxia type 2 +MONDO:0008471 spondyloepiphyseal dysplasia congenita NANDO:2201348 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spondyloepiphyseal dysplasia congenita +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type NANDO:2201349 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spondyloepimetaphyseal dysplasia, Strudwick type +MONDO:0008487 polycystic ovary syndrome NANDO:2100149 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polycystic ovary syndrome +MONDO:0008487 polycystic ovary syndrome NANDO:2200409 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polycystic ovary syndrome +MONDO:0008501 Sturge-Weber syndrome NANDO:1200606 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sturge-Weber syndrome +MONDO:0008501 Sturge-Weber syndrome NANDO:2200830 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sturge-Weber syndrome +MONDO:0008503 Worster-Drought syndrome NANDO:1200558 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital suprabulbar paresis +MONDO:0008504 supravalvular aortic stenosis NANDO:2200285 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Supravalvular aortic stenosis +MONDO:0008523 Blau syndrome NANDO:1200476 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Blau syndrome +MONDO:0008523 Blau syndrome NANDO:2200434 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Blau syndrome, early onset sarcoidosis +MONDO:0008538 temporal arteritis NANDO:1200258 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Giant cell arteritis +MONDO:0008538 temporal arteritis NANDO:1200259 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cranial giant cell arteritis +MONDO:0008538 temporal arteritis NANDO:1200260 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Large-vessel giant cell arteritis +MONDO:0008542 tetralogy of fallot NANDO:1200709 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tetralogy of Fallot +MONDO:0008542 tetralogy of fallot NANDO:2100075 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tetralogy of Fallot +MONDO:0008542 tetralogy of fallot NANDO:2200254 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tetralogy of Fallot +MONDO:0008546 thanatophoric dysplasia type 1 NANDO:1200875 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thanatophoric dysplasia type 1 +MONDO:0008547 thanatophoric dysplasia type 2 NANDO:1200876 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thanatophoric dysplasia type 2 +MONDO:0008555 thrombocytopenia 2 NANDO:2200663 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal dominant thrombocytopenia 2 +MONDO:0008556 thrombocytopenia, cyclic NANDO:2100192 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cyclic thrombocytopenia +MONDO:0008556 thrombocytopenia, cyclic NANDO:2200653 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cyclic thrombocytopenia +MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:1200315 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic thrombocytopenic purpura +MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:2200645 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Immune thrombocytopenic purpura +MONDO:0008564 DiGeorge syndrome NANDO:1200339 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thymus hypoplasia +MONDO:0008564 DiGeorge syndrome NANDO:1200688 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 22q11.2 deletion syndrome +MONDO:0008564 DiGeorge syndrome NANDO:2200712 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thymus hypoplasia +MONDO:0008608 Down syndrome NANDO:2200965 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Down syndrome +MONDO:0008628 ureterocele NANDO:2200183 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ureteroceles +MONDO:0008633 Muckle-Wells syndrome NANDO:1200467 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Muckle-Wells syndrome +MONDO:0008633 Muckle-Wells syndrome NANDO:2201067 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Muckle-Wells syndrome +MONDO:0008642 VACTERL/vater association NANDO:1200657 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp VATER syndrome +MONDO:0008642 VACTERL/vater association NANDO:2200983 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp VATER syndrome +MONDO:0008644 velocardiofacial syndrome NANDO:1200339 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thymus hypoplasia +MONDO:0008644 velocardiofacial syndrome NANDO:1200688 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 22q11.2 deletion syndrome +MONDO:0008644 velocardiofacial syndrome NANDO:2200712 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thymus hypoplasia +MONDO:0008667 von Hippel-Lindau disease NANDO:2200408 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Von Hippel-Lindau disease +MONDO:0008667 von Hippel-Lindau disease NANDO:2200829 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp von Hippel-Lindau disease +MONDO:0008674 obsolete WHIM syndrome NANDO:2200767 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp WHIM syndrome +MONDO:0008678 Williams syndrome NANDO:1200664 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Williams syndrome +MONDO:0008678 Williams syndrome NANDO:2200286 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Williams syndrome +MONDO:0008682 Denys-Drash syndrome NANDO:2200116 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Denys-Drash syndrome +MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:1200683 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 4p deletion syndrome +MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:2200962 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 4p- Syndrome +MONDO:0008685 Wolff-Parkinson-White syndrome NANDO:2200217 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Supraventricular tachycardia due to WPW syndrome +MONDO:0008692 abetalipoproteinemia NANDO:1200857 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Abetalipoproteinemia +MONDO:0008692 abetalipoproteinemia NANDO:2200604 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Abetalipoproteinemia +MONDO:0008695 chorea-acanthocytosis NANDO:1200014 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chorea-acanthocytosis +MONDO:0008702 achondrogenesis type II NANDO:2201345 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Achondrogenesis type 2 +MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201345 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Achondrogenesis type 2 +MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201346 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypochondrogenesis +MONDO:0008713 acrodermatitis enteropathica NANDO:2200584 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acrodermatitis enteropathica +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency NANDO:2200513 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Medium-chain acyl-CoA dehydrogenase deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency NANDO:2200514 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Short-chain acyl-CoA dehydrogenase deficiency +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2200512 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Very-long-chain acyl-CoA dehydrogenase deficiency +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2201139 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:1200398 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 3-β-Hydroxysteroid dehydrogenase deficiency +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:2200371 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 3 beta-hydroxysteroid dehydrogenase deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:1200399 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 21-Hydroxylase deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:2200374 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 21-Hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:1200400 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 11-β-Hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:2200372 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 11-β-Hydroxylase deficiency +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:1200401 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 17-α-Hydroxylase deficiency +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:2200373 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 17 alpha-hydroxylase deficiency +MONDO:0008737 congenital afibrinogenemia NANDO:2200672 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Afibrinogenemia +MONDO:0008738 aganglionosis, total intestinal NANDO:1200460 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital isolated hypoganglionosis +MONDO:0008738 aganglionosis, total intestinal NANDO:2200948 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital Isolated Hypoganglionosis +MONDO:0008749 pseudohypoparathyroidism type 2 NANDO:1201078 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoparathyroidism type 2 +MONDO:0008752 Alexander disease NANDO:1200554 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alexander disease +MONDO:0008752 Alexander disease NANDO:2200835 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alexander disease +MONDO:0008753 alkaptonuria NANDO:2200504 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alkaptonuria +MONDO:0008760 beta-ketothiolase deficiency NANDO:1200987 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Beta-ketothiolase deficiency +MONDO:0008760 beta-ketothiolase deficiency NANDO:2200493 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Beta-ketothiolase deficiency +MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:1200153 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Late infantile neuronal ceroid lipofuscinosis +MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:2201242 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Late infantile neuronal ceroid lipofuscinosis +MONDO:0008777 gelatinous drop-like corneal dystrophy NANDO:1201006 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gelatinous drop-like corneal dystrophy +MONDO:0008783 Tangier disease NANDO:1200854 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tangier disease +MONDO:0008803 Antley-Bixler syndrome NANDO:1200669 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Antley-Bixler syndrome +MONDO:0008803 Antley-Bixler syndrome NANDO:2200975 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Antley-Bixler syndrome +MONDO:0008814 hyperargininemia NANDO:1200807 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Argininemia +MONDO:0008814 hyperargininemia NANDO:2200482 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperargininemia +MONDO:0008815 argininosuccinic aciduria NANDO:1200806 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Argininosuccinic aciduria +MONDO:0008815 argininosuccinic aciduria NANDO:2200481 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Argininosuccinic aciduria +MONDO:0008830 aspartylglucosaminuria NANDO:1200133 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aspartylglucosaminuria +MONDO:0008830 aspartylglucosaminuria NANDO:2200555 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aspartylglucosaminuria +MONDO:0008840 ataxia telangiectasia NANDO:1200331 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ataxia telangiectasia +MONDO:0008840 ataxia telangiectasia NANDO:2200705 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ataxia telangiectasia +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia NANDO:1200051 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ataxia-oculomotor apraxia type 1 +MONDO:0008846 atransferrinemia NANDO:2100180 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital atransferrinemia +MONDO:0008846 atransferrinemia NANDO:2200617 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital atransferrinemia +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:1200753 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital central hypoventilation syndrome +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2100032 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital central hypoventilation syndrome +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2200198 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital central hypoventilation syndrome +MONDO:0008855 MHC class II deficiency NANDO:1200329 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MHC class II deficiency +MONDO:0008855 MHC class II deficiency NANDO:2200702 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MHC class II deficiency +MONDO:0008863 sitosterolemia NANDO:1200853 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sitosterolemia +MONDO:0008867 biliary atresia NANDO:1200913 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Biliary atresia +MONDO:0008867 biliary atresia NANDO:2200930 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp biliary atresia +MONDO:0008876 Bloom syndrome NANDO:1200333 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bloom syndrome +MONDO:0008876 Bloom syndrome NANDO:2200707 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bloom syndrome +MONDO:0008888 Williams-Campbell syndrome NANDO:2201040 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bronchomalacia +MONDO:0008889 thromboangiitis obliterans NANDO:1200266 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Buerger's disease +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 NANDO:1201043 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive familial intrahepatic cholestasis type 1 +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency NANDO:2200773 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CARD9 deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:1200972 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carnitine-acylcarnitine translocase deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:2200511 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carnitine-acylcarnitine translocase deficiency +MONDO:0008919 systemic primary carnitine deficiency disease NANDO:1200973 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Systemic primary carnitine deficiency +MONDO:0008919 systemic primary carnitine deficiency disease NANDO:2200508 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Organic cation transporter 2 deficiency +MONDO:0008947 bilateral striopallidodentate calcinosis NANDO:1200207 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic basal ganglia calcification +MONDO:0008948 cerebrotendinous xanthomatosis NANDO:1200856 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cerebrotendinous xanthomatosis +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:1200151 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital neuronal ceroid lipofuscinosis +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:2201240 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital neuronal ceroid lipofuscinosis +MONDO:0008963 Chediak-Higashi syndrome NANDO:1200350 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chédiak-Higashi syndrome +MONDO:0008963 Chediak-Higashi syndrome NANDO:1200639 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chédiak-Higashi syndrome +MONDO:0008963 Chediak-Higashi syndrome NANDO:2200724 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chédiak-Higashi syndrome +MONDO:0008965 CHARGE syndrome NANDO:1200464 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CHARGE syndrome +MONDO:0008965 CHARGE syndrome NANDO:2200972 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CHARGE syndrome +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 NANDO:1200763 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rhizomelic chondrodysplasia punctata type 1 +MONDO:0008974 Greenberg dysplasia NANDO:2201361 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Greenberg dysplasia +MONDO:0008977 chondrosarcoma NANDO:2200050 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chondrosarcoma +MONDO:0008978 chordoma NANDO:2200098 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chordoma +MONDO:0008982 central areolar choroidal dystrophy NANDO:1200939 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central areolar choroidal dystrophy +MONDO:0008988 citrullinemia type I NANDO:1200805 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Classic citrullinemia +MONDO:0008988 citrullinemia type I NANDO:2200480 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Argininosuccinate synthetase deficiency +MONDO:0008996 obsolete COACH syndrome 1 NANDO:1201050 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp COACH syndrome +MONDO:0008999 Cohen syndrome NANDO:2200750 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cohen syndrome +MONDO:0009006 complement component 2 deficiency NANDO:2200781 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp C2 deficiency +MONDO:0009010 aortic arch interruption NANDO:2200288 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Interruption of aortic arch complex +MONDO:0009025 apparent mineralocorticoid excess NANDO:2100130 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Apparent mineralocorticoid excess syndrome +MONDO:0009025 apparent mineralocorticoid excess NANDO:2200362 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Apparent mineralocorticoid excess syndrome +MONDO:0009026 Costello syndrome NANDO:1200463 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Costello syndrome +MONDO:0009026 Costello syndrome NANDO:2200971 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Costello syndrome +MONDO:0009031 craniodiaphyseal dysplasia NANDO:2201368 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Craniodiaphyseal dysplasia +MONDO:0009039 Baller-Gerold syndrome NANDO:1201059 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Baller-Gerold syndrome +MONDO:0009044 Crigler-Najjar syndrome NANDO:2100272 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crigler-Najjar syndrome +MONDO:0009044 Crigler-Najjar syndrome NANDO:2200941 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crigler-Najjar syndrome +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia NANDO:2200353 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ACTH-independent macronodular adrenal hyperplasia +MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:1200379 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cushing disease +MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:2200350 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cushing disease +MONDO:0009061 cystic fibrosis NANDO:1200922 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cystic fibrosis +MONDO:0009061 cystic fibrosis NANDO:1201021 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cystic fibrosis +MONDO:0009061 cystic fibrosis NANDO:2100035 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cystic fibrosis +MONDO:0009061 cystic fibrosis NANDO:2200205 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cystic fibrosis +MONDO:0009064 ocular cystinosis NANDO:1200164 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-nephropathic cystinosis +MONDO:0009064 ocular cystinosis NANDO:2201236 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-nephropathic cystinosis +MONDO:0009066 juvenile nephropathic cystinosis NANDO:1200163 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intermediate cystinosis +MONDO:0009066 juvenile nephropathic cystinosis NANDO:2201235 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intermediate cystinosis +MONDO:0009067 cystinuria NANDO:2200489 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cystinuria +MONDO:0009072 Dandy-Walker syndrome NANDO:2200821 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dandy-Walker syndrome +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly NANDO:1200658 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nasu-Hakola disease +MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia NANDO:1200546 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary diffuse leukoencephalopathy with spheroid +MONDO:0009109 lysinuric protein intolerance NANDO:1200809 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lysinuric protein intolerance +MONDO:0009109 lysinuric protein intolerance NANDO:2200488 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lysinuric protein intolerance +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 NANDO:1200771 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rhizomelic chondrodysplasia punctata type 2 +MONDO:0009114 congenital sucrase-isomaltase deficiency NANDO:2200908 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital sucrase-isomaltase deficiency +MONDO:0009116 obsolete lactose intolerance NANDO:2200907 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lactose intolerance +MONDO:0009123 orthostatic hypotension 1 NANDO:2200597 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dopamine beta hydroxylase deficiency +MONDO:0009134 congenital dyserythropoietic anemia type 2 NANDO:1200887 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital dyserythropoietic anemia type II +MONDO:0009138 dysosteosclerosis NANDO:2201365 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dysosteosclerosis +MONDO:0009141 torsion dystonia 2 NANDO:1200513 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 2 +MONDO:0009144 Ebstein anomaly NANDO:1200711 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ebstein's anomaly +MONDO:0009144 Ebstein anomaly NANDO:2100080 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ebstein's anomaly +MONDO:0009144 Ebstein anomaly NANDO:2200260 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ebstein's anomaly +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:1200651 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, dermatosparaxis type +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:2201261 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, dermatosparaxis type +MONDO:0009169 endocardial fibroelastosis NANDO:2100060 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Endocardial fibroelastosis +MONDO:0009169 endocardial fibroelastosis NANDO:2200235 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Endocardial fibroelastosis +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency NANDO:2200910 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Enterokinase deficiency +MONDO:0009176 epidermodysplasia verruciformis NANDO:2200768 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epidermodysplasia verruciformis +MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:1200238 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Recessive dystrophic epidermolysis bullosa +MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:2201383 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Recessive dystrophic epidermolysis bullosa, generalized severe +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:1201066 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-Herlitz junctional epidermolysis bullosa +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:2201379 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-Herlitz junctional epidermolysis bullosa +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy NANDO:2201376 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epidermolysis bullosa simplex with muscular dystrophy +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:1201065 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Herlitz junctional epidermolysis bullosa +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2200119 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Herlitz junctional epidermolysis bullosa +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2201378 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Herlitz junctional epidermolysis bullosa +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia NANDO:2201380 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Junctional epidermolysis bullosa with pyloric atresia +MONDO:0009194 immunodeficiency 32B NANDO:2200808 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic active EB virus infection +MONDO:0009218 Farber lipogranulomatosis NANDO:1200086 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Farber disease +MONDO:0009218 Farber lipogranulomatosis NANDO:2200565 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Farber disease +MONDO:0009234 congenital high-molecular-weight kininogen deficiency NANDO:2200685 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp High molecular weight kininogen deficiency +MONDO:0009238 hereditary folate malabsorption NANDO:1200810 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary folate malabsorption +MONDO:0009238 hereditary folate malabsorption NANDO:2200592 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary folate malabsorption +MONDO:0009249 hereditary fructose intolerance NANDO:2200531 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary fructose intolerance +MONDO:0009251 fructose-1,6-bisphosphatase deficiency NANDO:2200535 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fructose-1,6-bisphosphatase deficiency +MONDO:0009254 fucosidosis NANDO:1200130 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fucosidosis +MONDO:0009254 fucosidosis NANDO:2200553 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fucosidosis +MONDO:0009255 galactokinase deficiency NANDO:2200533 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galactokinase deficiency +MONDO:0009257 galactose epimerase deficiency NANDO:2200534 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp UDP-galactose-4-epimerase deficiency +MONDO:0009258 classic galactosemia NANDO:1200851 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galactose-1-phosphate uridyltransferase deficiency +MONDO:0009258 classic galactosemia NANDO:2200532 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galactose-1-phosphate uridyltransferase deficiency +MONDO:0009260 GM1 gangliosidosis type 1 NANDO:1200067 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile GM1 gangliosidosis +MONDO:0009260 GM1 gangliosidosis type 1 NANDO:2201196 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GM1 gangliosidosis, infantile form +MONDO:0009261 GM1 gangliosidosis type 2 NANDO:1200068 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile GM1 gangliosidosis +MONDO:0009261 GM1 gangliosidosis type 2 NANDO:2201197 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GM1 gangliosidosis, juvenile form +MONDO:0009262 GM1 gangliosidosis type 3 NANDO:1200069 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult GM1 gangliosidosis +MONDO:0009262 GM1 gangliosidosis type 3 NANDO:2201198 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GM1 gangliosidosis, adult form +MONDO:0009265 Gaucher disease type I NANDO:1200057 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gaucher disease type 1 +MONDO:0009265 Gaucher disease type I NANDO:2201210 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gaucher disease type 1 +MONDO:0009266 Gaucher disease type II NANDO:1200058 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gaucher disease type 2 +MONDO:0009266 Gaucher disease type II NANDO:2201211 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gaucher disease type 2 +MONDO:0009267 Gaucher disease type III NANDO:1200059 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gaucher disease type 3 +MONDO:0009267 Gaucher disease type III NANDO:2201212 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gaucher disease type 3 +MONDO:0009276 Bernard-Soulier syndrome NANDO:2200656 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bernard-Soulier syndrome +MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency NANDO:2200516 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 3-hydroxy acyl-CoA dehydrogenase deficiency +MONDO:0009279 triple-A syndrome NANDO:1200410 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Allgrove syndrome +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:1200800 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glutaric acidemia type 1 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:2200501 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glutaric acidemia type 1 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:1200801 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glutaric acidemia type 2 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:2200502 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glutaric acidemia type 2 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA NANDO:2201153 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type 1a +MONDO:0009288 glycogen storage disease Ib NANDO:1200841 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type Ib +MONDO:0009288 glycogen storage disease Ib NANDO:2200754 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type 1b +MONDO:0009288 glycogen storage disease Ib NANDO:2201154 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type 1b +MONDO:0009290 glycogen storage disease II NANDO:1200138 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pompe disease +MONDO:0009290 glycogen storage disease II NANDO:1200825 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type II +MONDO:0009290 glycogen storage disease II NANDO:2200569 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pompe disease +MONDO:0009291 glycogen storage disease III NANDO:1200826 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type III +MONDO:0009291 glycogen storage disease III NANDO:1200844 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic GSD type IIIc +MONDO:0009291 glycogen storage disease III NANDO:1201019 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type III +MONDO:0009291 glycogen storage disease III NANDO:2200539 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type III +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200827 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type IV +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200850 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type IV +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:2200540 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IV +MONDO:0009293 glycogen storage disease V NANDO:1200828 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type V +MONDO:0009293 glycogen storage disease V NANDO:2200541 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type V +MONDO:0009294 glycogen storage disease VI NANDO:1200846 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type VI +MONDO:0009294 glycogen storage disease VI NANDO:2200542 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type VI +MONDO:0009295 glycogen storage disease VII NANDO:1200823 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Muscle glycogen storage disease +MONDO:0009295 glycogen storage disease VII NANDO:1200829 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type VII +MONDO:0009295 glycogen storage disease VII NANDO:2200543 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type VII +MONDO:0009299 46 XX gonadal dysgenesis NANDO:2200384 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ovarian dysgenesis +MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200717 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anti-GBM rapidly progressive glomerulonephritis +MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200718 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Goodpasture syndrome +MONDO:0009303 anti-glomerular basement membrane disease NANDO:2200125 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Goodpasture syndrome +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NANDO:2201280 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp p22phox-deficient chronic granulomatous disease +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 NANDO:2201281 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp p47phox-deficient chronic granulomatous disease +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NANDO:2201282 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp p67phox-deficient chronic granulomatous disease +MONDO:0009315 congenital factor XII deficiency NANDO:2200680 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor XII deficiency +MONDO:0009318 Hallermann-Streiff syndrome NANDO:2200973 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hallermann-Streiff syndrome +MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:1200534 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurodegeneration with brain iron accumulation type 1 +MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:2200886 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pantothenate kinase-associated neurodegeneration +MONDO:0009324 Hartnup disease NANDO:2200487 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hartnup disease +MONDO:0009326 congenital heart block NANDO:2200214 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete atrio-ventricular block +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:1200341 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic veno-occlusive disease with immunodeficiency +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:2200714 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic veno-occlusive disease with immunodeficiency +MONDO:0009341 Mowat-Wilson syndrome NANDO:1200663 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mowat-Wilson syndrome +MONDO:0009341 Mowat-Wilson syndrome NANDO:2200981 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mowat-Wilson syndrome +MONDO:0009352 classic homocystinuria NANDO:1201039 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Homocystinuria type 1 +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency NANDO:1201041 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Homocystinuria type 3 +MONDO:0009354 methylcobalamin deficiency type cblE NANDO:2201109 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylcobalamin deficiency cblE type +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:1200803 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carbamoyl phosphate synthetase I deficiency +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:2200478 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carbamoylphosphate synthetase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:1200808 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp NAGS deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2200477 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp N-acetylglutamate synthetase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2201084 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Presymptomatic N-acetylglutamate synthetase deficiency +MONDO:0009393 ornithine translocase deficiency NANDO:2200485 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +MONDO:0009410 obsolete Addison disease NANDO:1200411 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Addison's disease +MONDO:0009410 obsolete Addison disease NANDO:1200412 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune Addison's disease +MONDO:0009410 obsolete Addison disease NANDO:2200359 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Other chronic adrenal insufficiency +MONDO:0009410 obsolete Addison disease NANDO:2200360 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Addison's disease +MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200346 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune polyendocrinopathy type 1 +MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200738 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200824 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type 0 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200838 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2200537 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen synthase deficiency +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2201151 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type 0a +MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:1200614 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Harlequin ichthyosis +MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:2200992 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Harlequin ichthyosis +MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:1200337 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schimke syndrome +MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:2200711 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schimke syndrome +MONDO:0009475 isovaleric acidemia NANDO:1200798 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Isovaleric acidemia +MONDO:0009475 isovaleric acidemia NANDO:2200494 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Isovaleric acidemia +MONDO:0009480 Joubert syndrome with oculorenal defect NANDO:1200662 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Arima syndrome +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency NANDO:2200499 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Succinyl-CoA:3-ketoacid CoA transferase deficiency +MONDO:0009499 Krabbe disease NANDO:1200074 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Krabbe disease +MONDO:0009499 Krabbe disease NANDO:2200564 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Krabbe disease +MONDO:0009509 Landau-Kleffner syndrome NANDO:1200602 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Landau-Kleffner syndrome +MONDO:0009515 Norum disease NANDO:1200852 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lecithin cholesterol acyltransferase deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2200497 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 3-hydroxy-3-methylglutaric acidemia +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2201119 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Presymptomatic 3-hydroxy-3-methylglutaric acidemia +MONDO:0009530 lipoid proteinosis NANDO:2200608 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lipoid proteinosis +MONDO:0009532 Miller-Dieker lissencephaly syndrome NANDO:1201083 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Miller Dieker syndrome +MONDO:0009537 lymphoid interstitial pneumonia NANDO:1200424 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lymphoid interstitial pneumonia +MONDO:0009561 alpha-mannosidosis NANDO:1200126 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-mannosidosis +MONDO:0009562 beta-mannosidosis NANDO:1200129 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Beta-mannosidosis +MONDO:0009562 beta-mannosidosis NANDO:2201190 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Beta-mannosidosis +MONDO:0009563 maple syrup urine disease NANDO:1200791 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maple syrup urine disease +MONDO:0009563 maple syrup urine disease NANDO:2200473 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maple syrup urine disease +MONDO:0009567 Marinesco-Sjogren syndrome NANDO:1200485 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Marinesco-Sjogren syndrome +MONDO:0009572 autosomal recessive familial Mediterranean fever NANDO:1200864 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Typical familial Mediterranean fever +MONDO:0009578 neurocutaneous melanocytosis NANDO:2200827 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurocutaneous melanosis +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:1200082 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Saposin B deficiency +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:2201205 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Saposin B deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:1200080 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile ｍetachromatic leukodystrophy +MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:2201203 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Metachromatic leukodystrophy, juvenile form +MONDO:0009609 methylcobalamin deficiency type cblG NANDO:2201111 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylcobalamin deficiency cblG type +MONDO:0009610 3-methylglutaconic aciduria type 1 NANDO:1200990 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 3-methylglutaconic aciduria type I +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NANDO:1200794 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonyl-Coenzyme A mutase deficiency +MONDO:0009613 methylmalonic aciduria, cblA type NANDO:1200795 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic acidemia cblA type +MONDO:0009613 methylmalonic aciduria, cblA type NANDO:2201105 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic acidemia cblA type +MONDO:0009614 methylmalonic aciduria, cblB type NANDO:1200796 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic acidemia cblB type +MONDO:0009614 methylmalonic aciduria, cblB type NANDO:2201106 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic acidemia cblB type +MONDO:0009623 Nijmegen breakage syndrome NANDO:1200332 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nijmegen breakage syndrome +MONDO:0009623 Nijmegen breakage syndrome NANDO:2200706 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nijmegen breakage syndrome +MONDO:0009627 Galloway-Mowat syndrome NANDO:1200713 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galloway-Mowat syndrome +MONDO:0009627 Galloway-Mowat syndrome NANDO:2200120 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galloway-Mowat syndrome +MONDO:0009627 Galloway-Mowat syndrome NANDO:2201385 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galloway-Mowat syndrome +MONDO:0009635 microvillus inclusion disease NANDO:2100255 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Microvillus inclusion disease +MONDO:0009635 microvillus inclusion disease NANDO:2200913 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Microvillus inclusion disease +MONDO:0009641 obsolete mitochondrial complex II deficiency NANDO:1200181 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial complex II deficiency +MONDO:0009650 mucolipidosis type II NANDO:1200124 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucolipidosis II +MONDO:0009650 mucolipidosis type II NANDO:2200567 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucolipidosis II +MONDO:0009655 mucopolysaccharidosis type 3A NANDO:1200101 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sanfilippo disease type A +MONDO:0009655 mucopolysaccharidosis type 3A NANDO:2201174 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type III A +MONDO:0009656 mucopolysaccharidosis type 3B NANDO:1200102 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sanfilippo disease type B +MONDO:0009656 mucopolysaccharidosis type 3B NANDO:2201175 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type III B +MONDO:0009657 mucopolysaccharidosis type 3C NANDO:1200103 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sanfilippo disease type C +MONDO:0009657 mucopolysaccharidosis type 3C NANDO:2201176 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type III C +MONDO:0009658 mucopolysaccharidosis type 3D NANDO:1200104 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sanfilippo disease type D +MONDO:0009658 mucopolysaccharidosis type 3D NANDO:2201177 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type III D +MONDO:0009659 mucopolysaccharidosis type 4A NANDO:1200106 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Morquio syndrome type A +MONDO:0009659 mucopolysaccharidosis type 4A NANDO:2201178 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type IV A +MONDO:0009660 mucopolysaccharidosis type 4B NANDO:1200107 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Morquio syndrome type B +MONDO:0009660 mucopolysaccharidosis type 4B NANDO:2201179 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type IV B +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200108 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maroteaux-Lamy syndrome +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200109 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maroteaux Lamy syndrome, rapidly progressing form +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200110 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maroteaux Lamy syndrome, slowly progressing form +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:2200551 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type VI +MONDO:0009662 mucopolysaccharidosis type 7 NANDO:1200111 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sly syndrome +MONDO:0009662 mucopolysaccharidosis type 7 NANDO:2200552 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type VII +MONDO:0009665 biotinidase deficiency NANDO:1200822 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Biotinidase deficiency +MONDO:0009666 holocarboxylase synthetase deficiency NANDO:1200821 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Holocarboxylase synthetase deficiency +MONDO:0009669 spinal muscular atrophy, type 1 NANDO:1200004 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal muscular atrophy type I +MONDO:0009672 spinal muscular atrophy, type III NANDO:1200006 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal muscular atrophy type III +MONDO:0009673 spinal muscular atrophy, type II NANDO:1200005 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal muscular atrophy type II +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:1200494 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fukuyama type congenital muscular dystrophy +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:2200860 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fukuyama type congenital muscular dystrophy +MONDO:0009681 Ullrich congenital muscular dystrophy 1 NANDO:1200215 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ullrich disease +MONDO:0009685 Miyoshi myopathy NANDO:1200217 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Miyoshi myopathy +MONDO:0009688 myasthenia gravis NANDO:1200020 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myasthenia gravis +MONDO:0009688 myasthenia gravis NANDO:2100252 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myasthenia gravis +MONDO:0009688 myasthenia gravis NANDO:2200906 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myasthenia gravis +MONDO:0009689 congenital myasthenic syndrome 6 NANDO:1201057 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital myasthenic syndrome with episodic apnoea +MONDO:0009694 myeloperoxidase deficiency NANDO:1200358 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myeloperoxidase deficiency +MONDO:0009694 myeloperoxidase deficiency NANDO:2200758 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myeloperoxidase deficiency +MONDO:0009697 Lafora disease NANDO:1200955 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lafora disease +MONDO:0009697 Lafora disease NANDO:2200881 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lafora disease +MONDO:0009698 Unverricht-Lundborg syndrome NANDO:1200954 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Unverricht-Lundborg disease +MONDO:0009698 Unverricht-Lundborg syndrome NANDO:2200880 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Unverricht-Lundborg disease +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:1200970 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carnitine palmitoyltransferase I deficiency +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:2200509 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carnitine palmitoyltransferase I deficiency +MONDO:0009710 Thomsen and Becker disease NANDO:1200497 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myotonia congenita +MONDO:0009710 Thomsen and Becker disease NANDO:1200498 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thomsen disease +MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:1200483 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital fiber-type disproportion myopathy +MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:2200868 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital fiber-type disproportion myopathy +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia NANDO:2200872 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Minicore myopathy +MONDO:0009715 myotonia congenita, autosomal recessive NANDO:1200499 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Becker disease +MONDO:0009717 Schwartz-Jampel syndrome NANDO:1200224 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schwartz-Jampel syndrome +MONDO:0009717 Schwartz-Jampel syndrome NANDO:2100235 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schwartz-Jampel syndrome +MONDO:0009717 Schwartz-Jampel syndrome NANDO:2200876 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schwartz-Jampel syndrome +MONDO:0009723 Leigh syndrome NANDO:1200175 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leigh's encephalomyelopathy +MONDO:0009723 Leigh syndrome NANDO:2200527 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leigh syndrome +MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:1200867 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nakajo-Nishimura syndrome +MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:2200435 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nakajo-Nishimura syndrome +MONDO:0009728 nephronophthisis 1 NANDO:1201036 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephronophthisis +MONDO:0009728 nephronophthisis 1 NANDO:2200140 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephronophthisis +MONDO:0009732 congenital nephrotic syndrome, Finnish type NANDO:2200110 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital nephrotic syndrome of the Finnish type +MONDO:0009735 Netherton syndrome NANDO:1200338 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Netherton syndrome +MONDO:0009735 Netherton syndrome NANDO:1200619 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Netherton syndrome +MONDO:0009735 Netherton syndrome NANDO:2200993 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Netherton syndrome +MONDO:0009737 galactosialidosis NANDO:1200119 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galactosialidosis +MONDO:0009737 galactosialidosis NANDO:2200557 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galactosialidosis +MONDO:0009738 sialidosis type 2 NANDO:1200118 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sialidosis type 2 +MONDO:0009738 sialidosis type 2 NANDO:1200120 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galactosialidosis, early infantile form +MONDO:0009738 sialidosis type 2 NANDO:2201192 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sialidosis type 2 +MONDO:0009738 sialidosis type 2 NANDO:2201193 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Galactosialidosis, early infantile form +MONDO:0009739 obsolete infantile neuroaxonal dystrophy NANDO:2200887 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile neuroaxonal dystrophy +MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:1200152 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile neuronal ceroid lipofuscinosis +MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:2201241 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile neuronal ceroid lipofuscinosis +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:1200553 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital insensitivity to pain with anhidrosis +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:2200854 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital insensitivity to pain with anhidrosis +MONDO:0009756 Niemann-Pick disease type A NANDO:1200061 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Niemann-Pick disease type A +MONDO:0009756 Niemann-Pick disease type A NANDO:2201206 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Niemann-Pick disease type A +MONDO:0009763 obesity-hypoventilation syndrome NANDO:1200752 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Obesity hypoventilation syndrome +MONDO:0009774 cloacal exstrophy NANDO:1200909 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cloacal exstrophy +MONDO:0009774 cloacal exstrophy NANDO:1200910 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Persistent cloaca +MONDO:0009774 cloacal exstrophy NANDO:2200950 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Persistent cloaca +MONDO:0009774 cloacal exstrophy NANDO:2200951 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cloacal exstrophy +MONDO:0009787 3-methylglutaconic aciduria type 3 NANDO:1200992 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 3-methylglutaconic aciduria type III +MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200484 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperornithinemia +MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200486 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gyrate atrophy of choroid and retina +MONDO:0009797 orotic aciduria NANDO:2200590 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Orotic aciduria +MONDO:0009799 obsolete pachydermoperiostosis NANDO:1200642 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pachydermoperiostosis +MONDO:0009799 obsolete pachydermoperiostosis NANDO:2100288 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pachydermoperiostosis +MONDO:0009799 obsolete pachydermoperiostosis NANDO:2201004 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pachydermoperiostosis +MONDO:0009807 osteosarcoma NANDO:2200048 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteosarcoma +MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:1200869 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic recurrent multifocal osteomyelitis +MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:2200438 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic recurrent multifocal osteomyelitis +MONDO:0009823 primary hyperoxaluria type 1 NANDO:1200773 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary hyperoxaluria type 1 +MONDO:0009833 Shwachman-Diamond syndrome NANDO:1200356 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Shwachman-Diamond syndrome +MONDO:0009833 Shwachman-Diamond syndrome NANDO:2200756 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Shwachman-Diamond syndrome +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200195 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Subacute sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200196 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Typical subacute sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200198 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Subacute progressive sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:2100245 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Subacute sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:2200899 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Subacute sclerosing panencephalitis +MONDO:0009837 choroid plexus papilloma NANDO:2200093 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Choroid plexus papilloma +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:1200866 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyper IgD syndrome +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:2200436 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyper IgD syndrome +MONDO:0009855 d-bifunctional protein deficiency NANDO:1200766 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp D-bifunctional protein deficiency +MONDO:0009861 phenylketonuria NANDO:1200784 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Phenylketonuria +MONDO:0009861 phenylketonuria NANDO:1200785 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Phenylalanine hydroxylase deficiency +MONDO:0009861 phenylketonuria NANDO:2200467 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Phenylketonuria +MONDO:0009861 phenylketonuria NANDO:2201075 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Phenylalanine hydroxylase deficiency +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency NANDO:1200832 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type X +MONDO:0009868 glycogen storage disease IXb NANDO:1200848 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type IXb +MONDO:0009868 glycogen storage disease IXb NANDO:2201165 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IXb +MONDO:0009883 alpha-2-plasmin inhibitor deficiency NANDO:2200687 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-2-plasmin inhibitor deficiency +MONDO:0009885 Scott syndrome NANDO:2200671 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Scott syndrome +MONDO:0009887 desquamative interstitial pneumonia NANDO:1200422 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Desquamative interstitial pneumonia +MONDO:0009887 desquamative interstitial pneumonia NANDO:1200423 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Respiratory bronchiolitis-associated interstitial lung disease +MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:1200369 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal recessive polycystic kidney disease +MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:2200154 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal recessive polycystic kidney disease +MONDO:0009891 acquired polycythemia vera NANDO:2100186 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polycythemia vera +MONDO:0009891 acquired polycythemia vera NANDO:2200643 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polycythemia vera +MONDO:0009897 adult polyglucosan body disease NANDO:2201163 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IV, adult form +MONDO:0009902 cutaneous porphyria NANDO:1200817 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital erythropoietic porphyria +MONDO:0009902 cutaneous porphyria NANDO:2201268 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital erythropoietic porphyria +MONDO:0009904 Gitelman syndrome NANDO:2100020 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gitelman syndrome +MONDO:0009904 Gitelman syndrome NANDO:2200145 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gitelman syndrome +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency NANDO:2200390 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 17 beta-hydroxysteroid dehydrogenase deficiency +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency NANDO:1200765 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peroxisomal acyl-CoA oxidase deficiency +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency NANDO:2200389 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 5 alpha-reductase deficiency +MONDO:0009924 vitamin D-dependent rickets, type 1 NANDO:1200782 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-dependent rickets, type 1 +MONDO:0009928 pulmonary alveolar microlithiasis NANDO:2200202 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary alveolar microlithiasis +MONDO:0009930 obsolete pulmonary arteriovenous malformation NANDO:2200295 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary arteriovenous fistulae +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:1200707 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary atresia with intact ventricular septum +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:2200253 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary atresia with intact ventricular septum +MONDO:0009937 pulmonary venoocclusive disease NANDO:1200427 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary veno-occlusive disease +MONDO:0009940 pycnodysostosis NANDO:2201023 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pycnodysostosis +MONDO:0009943 Pyle disease NANDO:2201367 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Metaphyseal dysplasias +MONDO:0009948 pyropoikilocytosis, hereditary NANDO:2200631 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary pyropoikilocytosis +MONDO:0009949 pyruvate carboxylase deficiency disease NANDO:2200519 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pyruvate carboxylase deficiency +MONDO:0009950 pyruvate kinase deficiency of red cells NANDO:2200628 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hemolytic anemia due to red cell pyruvate kinase deficiency +MONDO:0009955 rapadilino syndrome NANDO:1201058 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp RAPADILINO syndrome +MONDO:0009958 adult Refsum disease NANDO:1200769 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Refsum disease +MONDO:0009958 adult Refsum disease NANDO:2200577 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Refsum disease +MONDO:0009973 reticular dysgenesis NANDO:1200322 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Reticular dysgenesis +MONDO:0009973 reticular dysgenesis NANDO:2200695 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Reticular dysgenesis +MONDO:0010002 Rothmund-Thomson syndrome NANDO:1200671 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rothmund-Thomson syndrome +MONDO:0010006 Sandhoff disease NANDO:1200072 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sandhoff disease +MONDO:0010006 Sandhoff disease NANDO:2201200 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sandhoff disease +MONDO:0010011 schizencephaly NANDO:1201073 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schizencephaly +MONDO:0010011 schizencephaly NANDO:2200818 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schizencephaly +MONDO:0010012 autoimmune polyendocrinopathy type 2 NANDO:2200347 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune polyendocrinopathy type 2 +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:1200327 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Zap-70 deficiency +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:2200700 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ZAP-70 deficiency +MONDO:0010027 free sialic acid storage disease, infantile form NANDO:1200147 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile free sialic acid storage disease +MONDO:0010027 free sialic acid storage disease, infantile form NANDO:2201237 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile free sialic acid storage disease +MONDO:0010030 Sjogren syndrome NANDO:1200279 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sjogren's syndrome +MONDO:0010030 Sjogren syndrome NANDO:1200280 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary Sjogren's syndrome +MONDO:0010030 Sjogren syndrome NANDO:2200420 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sjogren's syndrome +MONDO:0010031 Sjogren-Larsson syndrome NANDO:1200620 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sjögren-Larsson syndrome +MONDO:0010031 Sjogren-Larsson syndrome NANDO:2200994 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sjögren-Larsson syndrome +MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:1200961 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Smith-lemli-opitz syndrome +MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:2200979 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Smith-Lemli-Opitz syndrome +MONDO:0010038 growth delay due to insulin-like growth factor I resistance NANDO:2200320 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IGF1 insensitivity +MONDO:0010056 spinal muscular atrophy, type IV NANDO:1200007 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal muscular atrophy type IV +MONDO:0010066 familial isolated congenital asplenia NANDO:2200775 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Isolated congenital asplenia +MONDO:0010078 spondyloperipheral dysplasia NANDO:2201351 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spondyloperipheral dysplasia +MONDO:0010079 Canavan disease NANDO:1200948 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Canavan disease +MONDO:0010079 Canavan disease NANDO:2200834 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Canavan disease +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency NANDO:2200599 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Succinic semialdehyde dehydrogenase deficiency +MONDO:0010088 mucosulfatidosis NANDO:1200083 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple sulfatase deficiency +MONDO:0010088 mucosulfatidosis NANDO:1200624 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple sulfatase deficiency +MONDO:0010088 mucosulfatidosis NANDO:2200566 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple sulfatase deficiency +MONDO:0010089 isolated sulfite oxidase deficiency NANDO:2200583 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sulfite oxidase deficiency +MONDO:0010099 Tay-Sachs disease AB variant NANDO:1200073 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GM2 gangliosidosis AB variant +MONDO:0010099 Tay-Sachs disease AB variant NANDO:2201201 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GM2 gangliosidosis AB variant +MONDO:0010100 Tay-Sachs disease NANDO:1200071 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tay-Sachs disease +MONDO:0010100 Tay-Sachs disease NANDO:2201199 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tay-Sachs disease +MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200657 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thrombasthenia +MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200664 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ITGA2B/ITGB3 mutations +MONDO:0010121 thrombocytopenia-absent radius syndrome NANDO:2200661 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thrombocytopenia with absent radii +MONDO:0010122 congenital thrombotic thrombocytopenic purpura NANDO:1200317 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital thrombotic thrombocytopenic purpura +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:1200395 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Resistance to thyroid hormone +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2100121 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Resistance to thyroid hormone +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2200341 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Resistance to thyroid hormone +MONDO:0010155 Dorfman-Chanarin disease NANDO:1200622 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dorfman-Chanarin syndrome +MONDO:0010155 Dorfman-Chanarin disease NANDO:1200623 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neutral lipid storage disease with ichthyosis +MONDO:0010155 Dorfman-Chanarin disease NANDO:2200997 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dorfman-Chanarin syndrome +MONDO:0010160 tyrosinemia type II NANDO:1200789 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tyrosinemia type 2 +MONDO:0010160 tyrosinemia type II NANDO:2200469 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tyrosinemia type 2 +MONDO:0010161 tyrosinemia type I NANDO:1200788 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tyrosinemia type 1 +MONDO:0010161 tyrosinemia type I NANDO:2200468 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tyrosinemia type 1 +MONDO:0010162 tyrosinemia type III NANDO:1200790 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tyrosinemia type 3 +MONDO:0010162 tyrosinemia type III NANDO:2200470 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tyrosinemia type 3 +MONDO:0010168 Usher syndrome type 1 NANDO:1200942 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Usher syndrome type I +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF NANDO:2201110 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic acidemia and homocystinuria cblF type +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:1201040 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Homocystinuria type 2 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:2201107 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic aciduria and homocystinuria, cblC type +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:1200797 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic acidemia CblD type +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:2201108 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylmalonic acidemia CblD type +MONDO:0010188 familial isolated deficiency of vitamin E NANDO:1200050 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ataxia with isolated vitamin E deficiency +MONDO:0010193 Weaver syndrome NANDO:1200659 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Weaver syndrome +MONDO:0010193 Weaver syndrome NANDO:2200957 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Weaver syndrome +MONDO:0010196 Werner syndrome NANDO:1200676 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Werner syndrome +MONDO:0010196 Werner syndrome NANDO:2200831 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Werner syndrome +MONDO:0010200 Wilson disease NANDO:1200655 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Wilson disease +MONDO:0010200 Wilson disease NANDO:2200579 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Wilson disease +MONDO:0010226 46,XY sex reversal 2 NANDO:1200404 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp DAX1 abnormality +MONDO:0010246 developmental and epileptic encephalopathy, 9 NANDO:1200599 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp PCDH19-related syndrome +MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:1200166 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Childhood cerebral adrenoleukodystrophy +MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:2201246 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Childhood cerebral adrenoleukodystrophy +MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:1200403 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital adrenal hypoplasia +MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:2200357 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital adrenal hypoplasia +MONDO:0010281 Danon disease NANDO:1200145 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Danon disease +MONDO:0010281 Danon disease NANDO:1200222 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Danon disease +MONDO:0010283 syndromic X-linked intellectual disability Lubs type NANDO:2200984 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MECP2 duplication syndrome +MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:1200360 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anhidrotic ectodermal dysplasia with immunodeficiency +MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:2200761 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anhidrotic ectodermal dysplasia with immunodeficiency +MONDO:0010294 X-linked severe congenital neutropenia NANDO:2200753 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X linked severe congenital neutropenia +MONDO:0010298 Lesch-Nyhan syndrome NANDO:2200586 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lesch-Nyhan syndrome +MONDO:0010305 creatine transporter deficiency NANDO:1201035 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Creatine transporter deficiency +MONDO:0010305 creatine transporter deficiency NANDO:2201301 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp SLC6A8 deficiency +MONDO:0010311 Becker muscular dystrophy NANDO:1200489 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Becker muscular dystrophy +MONDO:0010311 Becker muscular dystrophy NANDO:2200865 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Becker muscular dystrophy +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:1200321 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked severe combined immunodeficiency +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:2200694 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked severe combined immunodeficiency +MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:1200580 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Allan-Herndon-Dudley syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:2201292 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Allan-Herndon-Dudley syndrome +MONDO:0010362 glycogen storage disease IXd NANDO:1200830 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type IXd +MONDO:0010362 glycogen storage disease IXd NANDO:2201167 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IXd +MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200690 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fragile X syndrome related diseases +MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200691 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fragile X tremor/ataxia syndrome +MONDO:0010383 fragile X syndrome NANDO:1200692 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fragile X syndrome +MONDO:0010383 fragile X syndrome NANDO:2100224 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fragile X syndrome +MONDO:0010383 fragile X syndrome NANDO:2200840 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fragile X syndrome +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency NANDO:2201279 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp gp91phox-deficient chronic granulomatous disease +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency NANDO:1200831 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Phosphoglycerate kinase deficiency +MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:1200818 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked dominant protoporphyria +MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:2201269 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked dominant protoporphyria +MONDO:0010421 Bruton-type agammaglobulinemia NANDO:1200343 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked agammaglobulinemia +MONDO:0010421 Bruton-type agammaglobulinemia NANDO:2200716 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked agammaglobulinemia +MONDO:0010434 synovial sarcoma NANDO:2200061 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Synovial sarcoma +MONDO:0010518 Wiskott-Aldrich syndrome NANDO:1200330 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Wiskott-Aldrich syndrome +MONDO:0010518 Wiskott-Aldrich syndrome NANDO:2200704 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Wiskott-Aldrich syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:1200665 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ATR-X syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2100223 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ATR-X syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2200839 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ATR-X syndrome +MONDO:0010526 Fabry disease NANDO:1200157 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fabry disease +MONDO:0010526 Fabry disease NANDO:2200563 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fabry disease +MONDO:0010543 Barth syndrome NANDO:1200991 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 3-methylglutaconicaciduria type II +MONDO:0010543 Barth syndrome NANDO:2200751 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Barth syndrome +MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201356 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked recessive brachytelephalangic chondrodysplasia punctata +MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201360 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Brachytelephalangic chondrodysplasia punctata +MONDO:0010561 Coffin-Lowry syndrome NANDO:1200660 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Coffin-Lowry syndrome +MONDO:0010561 Coffin-Lowry syndrome NANDO:2200952 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Coffin-Lowry syndrome +MONDO:0010568 Aicardi syndrome NANDO:1200562 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aicardi syndrome +MONDO:0010572 occipital horn syndrome NANDO:1200654 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Occipital horn syndrome +MONDO:0010572 occipital horn syndrome NANDO:2200581 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Occipital horn syndrome +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome NANDO:2200924 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IPEX syndrome +MONDO:0010598 glycogen storage disease IXa1 NANDO:1200847 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type IXa +MONDO:0010598 glycogen storage disease IXa1 NANDO:2201164 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IXa +MONDO:0010602 hemophilia A NANDO:2200676 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hemophilia A +MONDO:0010604 hemophilia B NANDO:2200677 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hemophilia B +MONDO:0010613 inborn glycerol kinase deficiency NANDO:2200505 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycerol kinase deficiency +MONDO:0010619 X-linked dominant hypophosphatemic rickets NANDO:1200779 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-resistant rickets +MONDO:0010621 CHILD syndrome NANDO:1200629 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CHILD syndrome +MONDO:0010621 CHILD syndrome NANDO:2200998 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CHILD syndrome +MONDO:0010621 CHILD syndrome NANDO:2201358 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CHILD syndrome +MONDO:0010622 recessive X-linked ichthyosis NANDO:1200625 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Recessive X-linked ichtyosis +MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:1200351 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked lymphoproliferative syndrome +MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:2200725 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked lymphoproliferative syndrome +MONDO:0010631 incontinentia pigmenti NANDO:2200974 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Incontinentia pigmenti +MONDO:0010645 oculocerebrorenal syndrome NANDO:2100028 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lowe syndrome +MONDO:0010645 oculocerebrorenal syndrome NANDO:2200188 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lowe syndrome +MONDO:0010651 Menkes disease NANDO:1200653 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Menkes disease +MONDO:0010651 Menkes disease NANDO:2200580 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Menkes disease +MONDO:0010674 mucopolysaccharidosis type 2 NANDO:1200097 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hunter syndrome +MONDO:0010674 mucopolysaccharidosis type 2 NANDO:2200548 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type II +MONDO:0010679 Duchenne muscular dystrophy NANDO:1200488 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Duchenne muscular dystrophy +MONDO:0010679 Duchenne muscular dystrophy NANDO:2200856 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Duchenne muscular dystrophy +MONDO:0010684 X-linked myopathy with excessive autophagy NANDO:1200223 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked Myopathy with excessive autophagy +MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:1200804 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ornithine transcarbamylase deficiency +MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:2200479 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ornithine transcarbamylase deficiency +MONDO:0010713 properdin deficiency, X-linked NANDO:2200789 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Properdin deficiency +MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:1200576 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pelizaeus-Merzbacher disease +MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:2201288 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pelizaeus-Merzbacher disease +MONDO:0010725 X-linked retinoschisis NANDO:1200938 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked juvenile retinoschisis +MONDO:0010726 Rett syndrome NANDO:1200603 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rett syndrome +MONDO:0010726 Rett syndrome NANDO:1200604 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Typical Rett syndrome +MONDO:0010726 Rett syndrome NANDO:2100219 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rett syndrome +MONDO:0010726 Rett syndrome NANDO:2200825 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rett syndrome +MONDO:0010731 Simpson-Golabi-Behmel syndrome NANDO:2200978 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Simpson-Golabi-Behmel syndrome +MONDO:0010735 Kennedy disease NANDO:1200001 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal and bulbar muscular atrophy +MONDO:0010747 X-linked dystonia-parkinsonism NANDO:1200514 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 3 +MONDO:0010778 cyclic vomiting syndrome NANDO:2100258 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cyclic vomiting syndrome +MONDO:0010778 cyclic vomiting syndrome NANDO:2200919 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cyclic vomiting syndrome +MONDO:0010787 Kearns-Sayre syndrome NANDO:1201064 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kearns-Sayre syndrome +MONDO:0010787 Kearns-Sayre syndrome NANDO:2200529 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kearns-Sayre syndrome +MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200178 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leber hereditary optic neuropathy +MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200940 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leber hereditary optic neuropathy +MONDO:0010789 MELAS syndrome NANDO:1200176 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome +MONDO:0010789 MELAS syndrome NANDO:2200525 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) +MONDO:0010790 MERRF syndrome NANDO:1200177 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myoclonus epilepsy associated with ragged-red fibers +MONDO:0010790 MERRF syndrome NANDO:2200526 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myoclonus epilepsy associated with ragged-red fibers +MONDO:0010808 fatal familial insomnia NANDO:1200191 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fatal familial insomnia +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 NANDO:1200772 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rhizomelic chondrodysplasia punctata type 3 +MONDO:0010829 CARASIL syndrome NANDO:1200544 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +MONDO:0010857 semantic dementia NANDO:1200550 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Semantic dementia +MONDO:0010894 maturity-onset diabetes of the young type 3 NANDO:2201071 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maturity-onset diabetes of the young type 3 +MONDO:0010911 prolactin-producing pituitary gland adenoma NANDO:1200378 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome +MONDO:0010913 Caroli disease NANDO:2200934 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Caroli disease +MONDO:0010931 vitamin D-dependent rickets, type 2B NANDO:1200779 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-resistant rickets +MONDO:0010940 inherited susceptibility to asthma NANDO:2100031 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bronchial asthma +MONDO:0010940 inherited susceptibility to asthma NANDO:2200197 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bronchial asthma +MONDO:0010947 Budd-Chiari syndrome NANDO:1200437 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Budd-Chiari syndrome +MONDO:0010983 dystonia 9 NANDO:1200520 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 9 +MONDO:0011014 pleuropulmonary blastoma NANDO:2200080 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pleuropulmonaryblastoma +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome NANDO:1200526 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss +MONDO:0011093 mucopolysaccharidosis type 9 NANDO:1200115 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyaluronidase deficiency +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:1200652 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:2201262 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome +MONDO:0011147 chromosome 18q deletion syndrome NANDO:1200579 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 18q-syndrome +MONDO:0011147 chromosome 18q deletion syndrome NANDO:2201291 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 18q-syndrome +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 NANDO:1201044 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive familial intrahepatic cholestasis type 2 +MONDO:0011200 torsion dystonia 7 NANDO:1200518 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 7 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 NANDO:1201045 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive familial intrahepatic cholestasis type 3 +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine NANDO:1200371 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ossification of posterior longitudinal ligament +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome NANDO:2200823 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Megalencephaly-capillary malformation syndrome +MONDO:0011264 torsion dystonia 6 NANDO:1200517 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 6 +MONDO:0011269 psoriasis 2 NANDO:2200443 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CARD14 deficiency +MONDO:0011273 H syndrome NANDO:2200457 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp SLC29A3 deficiency +MONDO:0011281 congenital myasthenic syndrome 5 NANDO:1201056 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp End-plate acetylcholine esterase deficiency +MONDO:0011301 pseudohypoparathyroidism type 1B NANDO:1201076 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoparathyroidism type 1B +MONDO:0011326 citrullinemia, type II, adult-onset NANDO:1200980 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult-onset type II citrullinemia +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 NANDO:2200730 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Syntaxin 11 deficiency +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 NANDO:2200728 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Perforin deficiency +MONDO:0011338 Omenn syndrome NANDO:1200324 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Omenn syndrome +MONDO:0011338 Omenn syndrome NANDO:2200697 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Omenn syndrome +MONDO:0011340 congenital tracheal stenosis NANDO:1201003 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital tracheal stenosis +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:1200681 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Young-Simpson syndrome +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:2200982 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Young-Simpson syndrome +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:1200951 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vanishing white matter disease +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:2200838 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vanishing white matter disease +MONDO:0011382 sickle cell anemia NANDO:2200624 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sickle cell disease +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:1200950 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Megaloencephalic leukoencephalopathy with subcortical cysts +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:2200837 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Megaloencephalic leukoencephalopathy with subcortical cysts +MONDO:0011399 alpha thalassemia NANDO:2201273 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp α-thalassemia +MONDO:0011405 poikiloderma with neutropenia NANDO:2200749 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Clericuzio-type poikiloderma with neutropenia syndrome +MONDO:0011426 aceruloplasminemia NANDO:1200540 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurodegeneration with brain iron accumulation type 4 +MONDO:0011426 aceruloplasminemia NANDO:2200582 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aceruloplasminemia +MONDO:0011429 juvenile idiopathic arthritis NANDO:1200469 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile idiopathic arthritis +MONDO:0011429 juvenile idiopathic arthritis NANDO:2200415 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile idiopathic arthritis +MONDO:0011449 Salla disease NANDO:1200149 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Salla disease +MONDO:0011449 Salla disease NANDO:1200582 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Salla disease +MONDO:0011449 Salla disease NANDO:2201294 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Salla disease +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:1200868 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:2200437 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0011469 congenital amegakaryocytic thrombocytopenia NANDO:2200651 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital amegakaryocytic thrombocytopenia +MONDO:0011476 MHC class I deficiency NANDO:1200328 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MHC class I deficiency +MONDO:0011476 MHC class I deficiency NANDO:2200701 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MHC class I deficiency +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis NANDO:2201352 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mild spondyloepiphyseal dysplasia with premature-onset arthrosis +MONDO:0011514 tricuspid atresia NANDO:1200706 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tricuspid atresia +MONDO:0011514 tricuspid atresia NANDO:1200962 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital tricuspid stenosis +MONDO:0011514 tricuspid atresia NANDO:2100073 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tricuspid atresia +MONDO:0011514 tricuspid atresia NANDO:2200251 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tricuspid atresia +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome NANDO:2200660 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital thrombocytopenia with radio-ulnar synostosis +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency NANDO:1200979 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neonatal intrahepatic cholestasis caused by citrin deficiency +MONDO:0011603 GNE myopathy NANDO:1200218 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Distal myopathy with rimmed vacuoles +MONDO:0011612 glycine encephalopathy NANDO:1200984 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nonketotic hyperglycinemia +MONDO:0011612 glycine encephalopathy NANDO:2200476 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nonketotic hyperglycinemia +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency NANDO:2200498 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +MONDO:0011628 propionic acidemia NANDO:1200792 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Propionic acidemia +MONDO:0011628 propionic acidemia NANDO:2200492 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Propionic acidemia +MONDO:0011638 neuroferritinopathy NANDO:1200539 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurodegeneration with brain iron accumulation type 3 +MONDO:0011638 neuroferritinopathy NANDO:1200542 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuroferritinopathy +MONDO:0011655 alveolar soft part sarcoma NANDO:2200063 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alveolar soft part sarcoma +MONDO:0011664 immunodeficiency due to CD25 deficiency NANDO:2200736 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Immunodeficiency 41 with lymphoproliferation and autoimmunity +MONDO:0011667 maturity-onset diabetes of the young type 4 NANDO:2201072 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maturity-onset diabetes of the young type 4 +MONDO:0011705 lymphangioleiomyomatosis NANDO:1200430 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lymphangioleiomyomatosis +MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:1200799 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glucose transporter 1 deficiency +MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:2200545 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glucose transporter 1 deficiency +MONDO:0011730 fumaric aciduria NANDO:2200520 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fumarase deficiency +MONDO:0011731 glucose-galactose malabsorption NANDO:2200909 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glucose-galactose malabsorption +MONDO:0011758 Hurler syndrome NANDO:1200094 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hurler syndrome +MONDO:0011758 Hurler syndrome NANDO:2201168 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hurler Disease +MONDO:0011759 Hurler-Scheie syndrome NANDO:1200096 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hurler-Scheie syndrome +MONDO:0011759 Hurler-Scheie syndrome NANDO:2201170 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hurler-Scheie disease +MONDO:0011760 Scheie syndrome NANDO:1200095 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Scheie syndrome +MONDO:0011760 Scheie syndrome NANDO:2201169 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Scheie disease +MONDO:0011776 CINCA syndrome NANDO:1200468 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic infantile neurological cutaneous articular syndrome +MONDO:0011776 CINCA syndrome NANDO:2201066 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic infantile neurological cutaneous articular syndrome +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B NANDO:2200740 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Caspase-8 deficiency +MONDO:0011826 glucocorticoid deficiency 2 NANDO:1200409 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MRAP deficiency +MONDO:0011827 patent ductus arteriosus NANDO:2100084 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Patent ductus arteriosus +MONDO:0011827 patent ductus arteriosus NANDO:2200264 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Patent ductus arteriosus +MONDO:0011844 myoclonic dystonia 15 NANDO:1200528 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 15 +MONDO:0011849 psoriatic arthritis NANDO:2201059 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Psoriatic juvenile idiopathic arthritis +MONDO:0011871 Niemann-Pick disease type B NANDO:1200062 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Niemann-Pick disease type B +MONDO:0011871 Niemann-Pick disease type B NANDO:2201207 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Niemann-Pick disease type B +MONDO:0011872 Griscelli syndrome type 2 NANDO:2200732 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Griscelli syndrome type 2 +MONDO:0011886 torsion dystonia 13 NANDO:1200527 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 13 +MONDO:0011888 immunodeficiency 67 NANDO:1200361 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IRAK4 deficiency +MONDO:0011888 immunodeficiency 67 NANDO:2200762 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IRAK4 deficiency +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:1200585 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ataxia, delayed dentition, and hypomyelination syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:2201297 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ataxia, delayed dentition, and hypomyelination syndrome +MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200014 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic myelomonocytic leukemia +MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200015 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile myelomonocytic leukemia +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A NANDO:2200861 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Merosin-deficient congenital muscular dystrophy +MONDO:0011929 chromosome 1p36 deletion syndrome NANDO:1200682 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 1p36 deletion syndrome +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation NANDO:2200744 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spondylo enchondro-dysplasiawith immune dysregulation +MONDO:0011975 paternal uniparental disomy of chromosome 14 NANDO:1200685 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Paternal uniparental disomy of chromosome 14 +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive NANDO:2200013 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic myeloid leukemia +MONDO:0011997 Hermansky-Pudlak syndrome 2 NANDO:2200733 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hermansky-Pudlak syndrome type 2 +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:1200988 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aromatic L-amino acid decarboxylase deficiency +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:2200596 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aromatic L-amino acid decarboxylase deficiency +MONDO:0012104 acquired partial lipodystrophy NANDO:1200862 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired partial lipodystrophy +MONDO:0012105 granulomatosis with polyangiitis NANDO:1200263 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Granulomatosis with polyangiitis +MONDO:0012105 granulomatosis with polyangiitis NANDO:1201009 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Systemic granulomatosis with polyangiitis +MONDO:0012105 granulomatosis with polyangiitis NANDO:2200424 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Granulomatosis with polyangiitis +MONDO:0012126 familial avascular necrosis of femoral head NANDO:1200373 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic osteonecrosis of femoral head +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form NANDO:2201132 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neonatal-onset carnitine palmitoyltransferase II deficiency +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 NANDO:2200729 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp UNC13D/Munc13-4 deficiency +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:1200326 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CD8 deficiency +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:2200699 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CD8 deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:1200974 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2200515 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2201147 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Presymptomatic trifunctional protein deficiency +MONDO:0012176 Emanuel syndrome NANDO:1200689 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Emanuel syndrome +MONDO:0012184 Pierson syndrome NANDO:2200117 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pierson syndrome +MONDO:0012197 idiopathic aplastic anemia NANDO:1200296 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic aplastic anemia +MONDO:0012197 idiopathic aplastic anemia NANDO:2201276 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic aplastic anemia +MONDO:0012198 PCWH syndrome NANDO:1200586 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease +MONDO:0012198 PCWH syndrome NANDO:2201298 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease +MONDO:0012206 Czech dysplasia, metatarsal type NANDO:2201353 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spondyloepiphyseal dysplasia with metatarsal shortening +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 NANDO:1200135 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schindler disease type I +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 NANDO:1200136 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schindler disease type 2 +MONDO:0012268 AIDS NANDO:2100212 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired immune deficiency syndrome +MONDO:0012268 AIDS NANDO:2200809 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired immune deficiency syndrome +MONDO:0012295 complement component 5 deficiency NANDO:2200783 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp C5 deficiency +MONDO:0012316 Majeed syndrome NANDO:2200453 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Majeed syndrome +MONDO:0012350 complement factor H deficiency NANDO:2200791 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor H deficiency +MONDO:0012354 platelet-type bleeding disorder 8 NANDO:2200669 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ADP receptor deficiencies +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency NANDO:2200771 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MCM4 mutation +MONDO:0012412 complement component 7 deficiency NANDO:2200785 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp C7 deficiency +MONDO:0012429 Aicardi-Goutieres syndrome 2 NANDO:2200894 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aicardi-Goutieres syndrome 2 +MONDO:0012444 neurodegeneration with brain iron accumulation 2B NANDO:1200538 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurodegeneration with brain iron accumulation type 2B +MONDO:0012455 Kleefstra syndrome NANDO:1200959 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 9q34 deletion syndrome +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency NANDO:1200983 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Inherited glycosylphosphatidylinositol deficiency +MONDO:0012471 Aicardi-Goutieres syndrome 3 NANDO:2200895 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aicardi-Goutieres syndrome 3 +MONDO:0012481 mevalonic aciduria NANDO:1200866 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyper IgD syndrome +MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:1200584 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypomyelination and congenital cataract +MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:2201296 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypomyelination and congenital cataract +MONDO:0012521 herpes simplex encephalitis NANDO:2200772 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Herpes simplex encephalitis +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency NANDO:2200752 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp P14 deficiency +MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200747 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune pulmonary alveolar proteinosis +MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200748 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic pulmonary alveolar proteinosis +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200746 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary alveolar proteinosis +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200750 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital alveolar proteinosis +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:2200200 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital alveolar proteinosis +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 NANDO:2200801 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CD21 deficiency +MONDO:0012594 complement factor I deficiency NANDO:2200790 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor I deficiency +MONDO:0012594 complement factor I deficiency NANDO:2200798 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor I deficiency +MONDO:0012603 episodic kinesigenic dyskinesia 2 NANDO:1200532 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 19 +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 NANDO:1200533 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 20 +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency NANDO:2201152 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type 0b +MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200449 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp NLRP12-associated periodic syndrome +MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200454 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp NLRP12-associated periodic syndrome +MONDO:0012725 lipoprotein glomerulopathy NANDO:2200134 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lipoprotein glomerulopathy +MONDO:0012747 glycogen storage disease due to aldolase A deficiency NANDO:1200834 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type XII +MONDO:0012764 RIDDLE syndrome NANDO:1200336 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp RIDDLE syndrome +MONDO:0012764 RIDDLE syndrome NANDO:2200710 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp RIDDLE syndrome +MONDO:0012789 dystonia 16 NANDO:1200529 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 16 +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 NANDO:1200531 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 18 +MONDO:0012817 Ewing sarcoma NANDO:2200053 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ewing's sarcoma +MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:1200581 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial Hsp60 chaperonopathy +MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:2201293 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial Hsp60 chaperonopathy +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:1200362 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MyD88 deficiency +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:2200763 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MyD88 deficiency +MONDO:0012858 primary CD59 deficiency NANDO:2200804 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary CD59 deficiency +MONDO:0012866 hereditary spastic paraplegia 35 NANDO:1200541 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fatty acid hydroxylase-associated neurodegeneration +MONDO:0012883 acute promyelocytic leukemia NANDO:2200007 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute promyelocytic leukemia +MONDO:0012895 torsion dystonia 17 NANDO:1200530 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 17 +MONDO:0012901 inherited prekallikrein deficiency NANDO:2200684 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital prekallikrein deficiency +MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:1200578 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypomyelination with atrophy of the basal ganglia and cerebellum +MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:2201290 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypomyelination with atrophy of the basal ganglia and cerebellum +MONDO:0012908 complement component 6 deficiency NANDO:2200784 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp C6 deficiency +MONDO:0012911 pseudohypoparathyroidism type 1C NANDO:1201077 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoparathyroidism type 1C +MONDO:0012912 pseudopseudohypoparathyroidism NANDO:2200348 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudopseudohypoparathyroidism +MONDO:0012941 inflammatory bowel disease 25 NANDO:2200448 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IL-10RB deficiency +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency NANDO:1200982 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sepiapterin reductase deficiency +MONDO:0012996 AGAT deficiency NANDO:1201033 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Arginine:glycine amidinotransferase deficiency +MONDO:0012996 AGAT deficiency NANDO:2201299 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp AGAT deficiency +MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:1201034 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Guanidinoacetate methyltransferase deficiency +MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:2201300 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GAMT deficiency +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis NANDO:2200439 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Deficiency of the interleukin-1-receptor antagonist +MONDO:0013024 chronic thromboembolic pulmonary hypertension NANDO:1200429 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic thromboembolic pulmonary hypertension +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly NANDO:2200803 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CD46 deficiency +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency NANDO:1200835 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type XIII +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency NANDO:1200833 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type XI +MONDO:0013059 Aicardi-Goutieres syndrome 5 NANDO:2200897 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aicardi-Goutieres syndrome 5 +MONDO:0013066 46,XY sex reversal 3 NANDO:1200405 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp SF-1 abnormality +MONDO:0013081 lymphoproliferative syndrome 1 NANDO:2200734 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IL-2-inducible T-cell kinase deficiency +MONDO:0013091 glycogen storage disease IXc NANDO:1200849 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type IXc +MONDO:0013091 glycogen storage disease IXc NANDO:2201166 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IXc +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 NANDO:2200731 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp STXBP2/Munc18-2 deficiency +MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related NANDO:2200667 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp β-1 tubulin disorders +MONDO:0013153 inflammatory bowel disease 28 NANDO:2200447 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IL-10RA deficiency +MONDO:0013166 GABA aminotransaminase deficiency NANDO:2200598 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gamma-amino butyrate aminotransferase deficiency +MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:1200325 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Purine nucleoside phosphorylase deficiency +MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:2200698 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Purine nucleoside phosphorylase deficiency +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation NANDO:2200866 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp LMNA-related congenital muscular dystrophy +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency NANDO:2200688 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital plasminogen activator inhibitor-1 deficiency +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency NANDO:2200739 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Syndromic multisystem autoimmune disease due to Itch deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:1200755 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2100174 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2200611 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-1-antitrypsin deficiency +MONDO:0013291 glycogen storage disease XV NANDO:1200837 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type XV +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:1200402 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp P450 oxidoreductase deficiency +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:2200375 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp P450 oxidoreductase deficiency +MONDO:0013316 occult macular dystrophy NANDO:1200934 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Occult macular dystrophy +MONDO:0013343 C1Q deficiency NANDO:2200777 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp C1q deficiency +MONDO:0013361 congenital prothrombin deficiency NANDO:2200673 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoprothrombinemia +MONDO:0013391 sterol carrier protein 2 deficiency NANDO:1200767 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sterol carrier protein 2 deficiency +MONDO:0013408 FADD-related immunodeficiency NANDO:2200741 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fas-associated death domain protein deficiency +MONDO:0013417 complement component 3 deficiency NANDO:2200782 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp C3 deficiency +MONDO:0013419 complement component C1s deficiency NANDO:2200779 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp C1s deficiency +MONDO:0013423 immunodeficiency due to MASP-2 deficiency NANDO:2200793 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MASP2 deficiency +MONDO:0013433 primary sclerosing cholangitis NANDO:1200440 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary sclerosing cholangitis +MONDO:0013433 primary sclerosing cholangitis NANDO:2100265 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary sclerosing cholangitis +MONDO:0013445 complement component 9 deficiency NANDO:2200787 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp C9 deficiency +MONDO:0013467 immunodeficiency due to ficolin3 deficiency NANDO:2200794 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ficolin 3 Deficiency +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency NANDO:2200788 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor D deficiency +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NANDO:2201283 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp p40phox-deficient chronic granulomatous disease +MONDO:0013571 acatalasia NANDO:1200774 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acatalasemia +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency NANDO:2200719 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Isolated IgG subclass deficiency +MONDO:0013594 spinocerebellar ataxia type 36 NANDO:1200048 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinocerebellar ataxia type 36 +MONDO:0013623 platelet-type bleeding disorder 11 NANDO:2200670 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Abnormalities in platelet collagen receptors +MONDO:0013626 psoriasis 14, pustular NANDO:1200244 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acrodermatitis continua of Hallopeau +MONDO:0013626 psoriasis 14, pustular NANDO:2200452 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IL36RN deficiency +MONDO:0013674 neurodegeneration with brain iron accumulation 4 NANDO:1200540 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurodegeneration with brain iron accumulation type 4 +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency NANDO:1200768 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-methylacyl-CoA racemase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency NANDO:2200912 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lipase deficiency +MONDO:0013766 familial cold autoinflammatory syndrome 3 NANDO:2200455 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp PLCG2-associated antibody deficiency and immune dysregulation +MONDO:0013851 autosomal dominant aplasia and myelodysplasia NANDO:1200301 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Borderline between aplastic anemia and MDS +MONDO:0013862 immunodeficiency, common variable, 7 NANDO:2200801 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CD21 deficiency +MONDO:0013869 adenine phosphoribosyltransferase deficiency NANDO:2200587 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adenine phosphoribosyltransferase deficiency +MONDO:0013873 IMAGe syndrome NANDO:1200406 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IMAge syndrome +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200442 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200451 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp PLCg2 deficiency +MONDO:0013968 PGM1-congenital disorder of glycosylation NANDO:1200836 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type XIV +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis NANDO:1200726 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary membranoproliferative glomerulonephritis type I +MONDO:0014007 Aicardi-Goutieres syndrome 6 NANDO:2200898 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aicardi-Goutieres syndrome 6 +MONDO:0014078 platelet-type bleeding disorder 15 NANDO:2200665 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp ACTN1 mutations +MONDO:0014252 familial hypobetalipoproteinemia 1 NANDO:1201037 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Homozygous familial hypobetalipoproteinemia 1 +MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 NANDO:2200743 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp PKC-δ deficiency +MONDO:0014255 complement factor b deficiency NANDO:2200797 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor B deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:1200995 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adenosine deaminase 2 deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200441 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adenosine deaminase 2 deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200450 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Deficiency of the enzyme ADA2 +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 NANDO:1201046 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive familial intrahepatic cholestasis type 4 +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure NANDO:1200952 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leukoencephalopathy, progressive, with ovarian failure +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency NANDO:2200766 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp HOIL-1 deficiency +MONDO:0014421 glucocorticoid resistance NANDO:2200358 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glucocorticoid resistance +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:1200994 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp NLRC4 mutation +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:2200459 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp NLRC4 mutation +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection NANDO:2200770 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp STAT2 deficiency +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome NANDO:2200985 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Takenouchi-Kosaki syndrome +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 NANDO:1201047 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive familial intrahepatic cholestasis type 5 +MONDO:0014945 myopathy, distal, with rimmed vacuoles NANDO:1200218 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Distal myopathy with rimmed vacuoles +MONDO:0015075 thyroid gland carcinoma NANDO:2200074 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thyroid cancer +MONDO:0015104 porphyria cutanea tarda NANDO:1200816 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Porphyria cutanea tarda +MONDO:0015104 porphyria cutanea tarda NANDO:2201267 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Porphyria cutanea tarda +MONDO:0015129 chronic primary adrenal insufficiency NANDO:1200411 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Addison's disease +MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200359 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Other chronic adrenal insufficiency +MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200360 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Addison's disease +MONDO:0015131 combined immunodeficiency NANDO:2100203 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Combined immunodeficiency +MONDO:0015146 classic lissencephaly NANDO:1201068 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Agyria +MONDO:0015146 classic lissencephaly NANDO:1201069 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pachygyria +MONDO:0015149 pure hereditary spastic paraplegia NANDO:1200053 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pure hereditary spastic paraplegia +MONDO:0015150 complex hereditary spastic paraplegia NANDO:1200054 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complex hereditary spastic paraplegia +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency NANDO:2200911 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Amylase deficiency +MONDO:0015175 autoimmune pancreatitis NANDO:1200925 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune pancreatitis +MONDO:0015175 autoimmune pancreatitis NANDO:2200943 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune pancreatitis +MONDO:0015183 short bowel syndrome NANDO:2100274 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Short bowel syndrome +MONDO:0015183 short bowel syndrome NANDO:2200944 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Short bowel syndrome +MONDO:0015194 sideroblastic anemia NANDO:2100179 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sideroblastic anemia +MONDO:0015194 sideroblastic anemia NANDO:2200616 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sideroblastic anemia +MONDO:0015197 aneurysm of sinus of Valsalva NANDO:2200293 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aneurysm of sinus valsalva +MONDO:0015229 Bardet-Biedl syndrome NANDO:2200414 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bardet-Biedl syndrome +MONDO:0015231 Bartter syndrome NANDO:2100021 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bartter syndrome +MONDO:0015231 Bartter syndrome NANDO:2200146 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bartter syndrome +MONDO:0015253 Diamond-Blackfan anemia NANDO:1200890 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diamond-Blackfan anemia +MONDO:0015253 Diamond-Blackfan anemia NANDO:2200614 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital red cell aplasia +MONDO:0015264 cryptogenic organizing pneumonia NANDO:1200421 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cryptogenic organizing pneumonia +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:1200745 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bronchiolitis obliterans +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2100039 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bronchiolitis obliterans +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2200209 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bronchiolitis obliterans +MONDO:0015268 medullary sponge kidney NANDO:2200173 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Medullary sponge kidney +MONDO:0015273 complete atrioventricular canal NANDO:2100086 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete atrioventricular septal defect +MONDO:0015273 complete atrioventricular canal NANDO:2200269 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete atrioventricular septal defect +MONDO:0015275 partial atrioventricular canal NANDO:2200268 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Incomplete atrioventricular septal defect +MONDO:0015277 medullary thyroid gland carcinoma NANDO:2201054 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Medullary thyroid carcinoma +MONDO:0015279 chronic mucocutaneous candidiasis NANDO:1200363 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic mucocutaneous candidiasis +MONDO:0015279 chronic mucocutaneous candidiasis NANDO:2200764 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic mucocutaneous candidiasis +MONDO:0015280 cardiofaciocutaneous syndrome NANDO:1200462 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CFC Syndrome +MONDO:0015280 cardiofaciocutaneous syndrome NANDO:2200967 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CFC Syndrome +MONDO:0015285 Carney complex NANDO:1200756 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carney complex +MONDO:0015333 progeroid syndrome NANDO:2100221 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progeroid syndromes +MONDO:0015337 isolated craniosynostosis NANDO:2200843 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-syndromic craniosynostosis +MONDO:0015339 adrenomyeloneuropathy NANDO:1200168 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adrenomyeloneuropathy +MONDO:0015339 adrenomyeloneuropathy NANDO:2201248 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adrenomyeloneuropathy +MONDO:0015358 hereditary motor and sensory neuropathy NANDO:2200855 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary Motor and Sensory Neuropathy +MONDO:0015369 Joubert syndrome and related disorders NANDO:1200661 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Joubert syndrome and related disorders +MONDO:0015369 Joubert syndrome and related disorders NANDO:2100218 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Joubert syndrome related disorders +MONDO:0015369 Joubert syndrome and related disorders NANDO:2200824 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Joubert syndrome related disorders +MONDO:0015375 orofaciodigital syndrome NANDO:1201051 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oral-facial-digital syndrome +MONDO:0015395 congenital subglottic stenosis NANDO:1201004 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital subglottic stenosis +MONDO:0015395 congenital subglottic stenosis NANDO:2200190 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Laryngeal stenosis +MONDO:0015408 diffuse lymphatic malformation NANDO:1200879 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp obsolete Lymphangiomatosis +MONDO:0015408 diffuse lymphatic malformation NANDO:2201033 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lymphangiomatosis +MONDO:0015436 ring chromosome 20 NANDO:1200597 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ring chromosome 20 syndrome +MONDO:0015446 atypical coarctation of aorta NANDO:2200284 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Coarctation complex +MONDO:0015450 triatrial heart NANDO:2100083 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cor triatriatum +MONDO:0015450 triatrial heart NANDO:2200263 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cor triatriatum +MONDO:0015451 univentricular heart NANDO:1200704 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Single ventricle +MONDO:0015451 univentricular heart NANDO:2200250 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Single ventricle +MONDO:0015452 Coffin-Siris syndrome NANDO:1200670 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Coffin-Siris syndrome +MONDO:0015452 Coffin-Siris syndrome NANDO:2200977 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Coffin-Siris syndrome +MONDO:0015454 multiple carboxylase deficiency NANDO:1200820 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple carboxylase deficiency +MONDO:0015454 multiple carboxylase deficiency NANDO:2200500 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple carboxylase deficiency +MONDO:0015465 craniometaphyseal dysplasia NANDO:2201366 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Craniometaphyseal dysplasia +MONDO:0015469 craniosynostosis NANDO:2100227 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Craniosynostosis +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:1200971 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carnitine palmitoyltransferase II deficiency +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2200510 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carnitine palmitoyltransferase II deficiency +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201133 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile-onset carnitine palmitoyl transferase II deficiency +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201134 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Late-onset carnitine palmitoyltransferase II deficiency +MONDO:0015517 common variable immunodeficiency NANDO:1200344 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Common variable immunodeficiency +MONDO:0015517 common variable immunodeficiency NANDO:2200717 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Common variable immunodeficiency +MONDO:0015518 infantile bilateral striatal necrosis NANDO:2100242 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile bilateral striatal necrosis +MONDO:0015518 infantile bilateral striatal necrosis NANDO:2200888 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile bilateral striatal necrosis +MONDO:0015534 juvenile xanthogranuloma NANDO:2200037 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile xanthogranuloma +MONDO:0015540 hemophagocytic syndrome NANDO:2200032 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hemophagocytic lymphohistiocytosis +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:1200600 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute encephalitis with refractory, repetitive partial seizures +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2100249 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute encephalitis with refractory, repetitive partial seizures +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2200903 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute encephalitis with refractory, repetitive partial seizures +MONDO:0015610 acquired aplastic anemia NANDO:2201277 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Secondary aplastic anemia +MONDO:0015611 neutral lipid storage disease NANDO:1200622 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dorfman-Chanarin syndrome +MONDO:0015611 neutral lipid storage disease NANDO:2200997 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dorfman-Chanarin syndrome +MONDO:0015626 Charcot-Marie-Tooth disease NANDO:1200016 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Charcot-Marie-Tooth disease +MONDO:0015626 Charcot-Marie-Tooth disease NANDO:2200855 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary Motor and Sensory Neuropathy +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly NANDO:2201016 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Type II collagenopathy +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:1200153 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Late infantile neuronal ceroid lipofuscinosis +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:2201242 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Late infantile neuronal ceroid lipofuscinosis +MONDO:0015677 cardiac diverticulum NANDO:2200234 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aneurysm of ventricle +MONDO:0015691 hypereosinophilic syndrome NANDO:2200805 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyper eosinophilic syndrome +MONDO:0015691 hypereosinophilic syndrome NANDO:2200806 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypereosinophilic syndrome +MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:1200349 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Transient hypogammaglobulinemia of infancy with normal numbers of B cells +MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:2200722 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Transient hypogammaglobulinemia of infancy with normal numbers of B cells +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:1200348 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:2200721 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells +MONDO:0015759 B-cell non-Hodgkin lymphoma NANDO:2200020 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mature B-cell lymphoma +MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:1201042 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive familial intrahepatic cholestasis +MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:2200933 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive familial intrahepatic cholestasis +MONDO:0015770 congenital hypogonadotropic hypogonadism NANDO:1200383 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hypogonadotropic hypogonadism +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis NANDO:2200388 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mixed gonadal dysgenesis +MONDO:0015780 dyskeratosis congenita NANDO:1200304 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dyskeratosis congenita +MONDO:0015780 dyskeratosis congenita NANDO:1200342 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dyskeratosis congenita +MONDO:0015780 dyskeratosis congenita NANDO:2200715 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dyskeratosis congenita +MONDO:0015790 central diabetes insipidus NANDO:1200375 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central diabetes insipidus +MONDO:0015790 central diabetes insipidus NANDO:2200324 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central diabetes insipidus +MONDO:0015791 peripheral precocious puberty NANDO:2200378 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-gonadotropin-dependent precocious puberty +MONDO:0015863 polyembryoma NANDO:2200068 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polyembryoma +MONDO:0015864 mixed germ cell tumor NANDO:2200071 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mixed germ cell tumour +MONDO:0015892 growth hormone insensitivity syndrome NANDO:2100114 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Growth hormone insensitivity +MONDO:0015892 growth hormone insensitivity syndrome NANDO:2200321 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Growth hormone insensitivity +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:1200775 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoparathyroidism +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2100124 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoparathyroidism +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2200345 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoparathyroidism +MONDO:0015900 hypoaldosteronism disease NANDO:2100132 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoaldosteronism +MONDO:0015909 aplastic anemia NANDO:1200295 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aplastic anemia +MONDO:0015909 aplastic anemia NANDO:1200301 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Borderline between aplastic anemia and MDS +MONDO:0015909 aplastic anemia NANDO:2100201 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aplastic anemia +MONDO:0015909 aplastic anemia NANDO:2200693 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aplastic anemia +MONDO:0015924 pulmonary arterial hypertension NANDO:1200425 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension NANDO:2100103 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension NANDO:2200298 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary arterial hypertension +MONDO:0015929 thoracic malformation NANDO:2201008 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thoracic insufficiency syndrome +MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:1200264 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Eosinophilic granulomatosis with polyangiitis +MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:2200427 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Eosinophilic granulomatosis with polyangiitis +MONDO:0015947 inherited ichthyosis NANDO:1200609 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital ichthyosis +MONDO:0015947 inherited ichthyosis NANDO:2100283 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital ichthyosis +MONDO:0015988 multicystic dysplastic kidney NANDO:2200158 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multicystic dysplastic kidney +MONDO:0015993 cone-rod dystrophy NANDO:1200937 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cone-rod dystrophy +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:1200649 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:2201259 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0016006 Cockayne syndrome NANDO:1200677 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cockayne syndrome +MONDO:0016006 Cockayne syndrome NANDO:2200832 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cockayne syndrome +MONDO:0016019 Rasmussen subacute encephalitis NANDO:1200598 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rasmussen's encephalitis +MONDO:0016019 Rasmussen subacute encephalitis NANDO:2100246 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rasmussen's encephalitis +MONDO:0016019 Rasmussen subacute encephalitis NANDO:2200900 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rasmussen's encephalitis +MONDO:0016022 early myoclonic encephalopathy NANDO:1200594 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Early myoclonic encephalopathy +MONDO:0016025 myoclonic-astatic epilepsy NANDO:1200590 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epilepsy with myoclonic atonic seizures +MONDO:0016030 Evans syndrome NANDO:1200310 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Evans syndrome +MONDO:0016033 Cornelia de Lange syndrome NANDO:1200960 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cornelia de lange syndrome +MONDO:0016033 Cornelia de Lange syndrome NANDO:2200958 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cornelia de Lange syndrome +MONDO:0016054 cerebral malformation NANDO:2100217 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Brain malformation +MONDO:0016063 Cowden disease NANDO:2200918 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cowden syndrome +MONDO:0016068 fibrochondrogenesis NANDO:2201016 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Type II collagenopathy +MONDO:0016079 sporadic Creutzfeldt-Jakob disease NANDO:1200187 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sporadic Creutzfeldt-Jakob disease +MONDO:0016081 coronary arterial fistulas NANDO:2200296 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Coronary artery fistula +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency NANDO:2200586 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lesch-Nyhan syndrome +MONDO:0016089 infantile Krabbe disease NANDO:1200075 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile Krabbe disease +MONDO:0016089 infantile Krabbe disease NANDO:2201216 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile Krabbe disease +MONDO:0016091 adult Krabbe disease NANDO:1200077 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult Krabbe disease +MONDO:0016091 adult Krabbe disease NANDO:2201219 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult Krabbe disease +MONDO:0016107 myotonic dystrophy NANDO:1200495 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myotonic dystrophy +MONDO:0016107 myotonic dystrophy NANDO:2200864 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myotonic dystrophy +MONDO:0016110 obsolete non-dystrophic myopathy NANDO:1200496 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-dystrophic myotonia +MONDO:0016113 bulbospinal muscular atrophy NANDO:1200001 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal and bulbar muscular atrophy +MONDO:0016118 obsolete muscular glycogenosis NANDO:1200823 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Muscle glycogen storage disease +MONDO:0016129 eosinophilic gastroenteritis NANDO:1200457 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Eosinophilic gastroenteritis +MONDO:0016147 qualitative or quantitative defects of dystrophin NANDO:1200487 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystrophinopathies +MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:1200465 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cryopyrin-associated periodic syndrome +MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:2200432 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cryopyrin-associated periodic syndrome +MONDO:0016233 obsolete rare lymphatic system malformation NANDO:1200881 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Giant lymphatic malformation (cervicofacial lesion) +MONDO:0016239 cystinosis NANDO:1200161 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cystinosis +MONDO:0016239 cystinosis NANDO:2200571 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cystinosis +MONDO:0016241 alternating hemiplegia of childhood NANDO:1200403 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital adrenal hypoplasia +MONDO:0016241 alternating hemiplegia of childhood NANDO:1200525 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alternating hemiplegia of childhood +MONDO:0016241 alternating hemiplegia of childhood NANDO:2100239 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alternating hemiplegia of childhood +MONDO:0016241 alternating hemiplegia of childhood NANDO:2200357 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital adrenal hypoplasia +MONDO:0016241 alternating hemiplegia of childhood NANDO:2200883 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alternating hemiplegia of childhood +MONDO:0016242 hemoglobin C disease NANDO:2200635 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hemoglobin C disease +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200473 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atypical hemolytic uremic syndrome +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200474 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital atypical hemolytic uremic syndrome +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200131 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atypical hemolytic uremic syndrome +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200641 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atypical hemolytic uremic syndrome +MONDO:0016264 autoimmune hepatitis NANDO:1200441 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune hepatitis +MONDO:0016264 autoimmune hepatitis NANDO:1200442 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Typical autoimmune hepatitis +MONDO:0016264 autoimmune hepatitis NANDO:2100264 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune hepatitis +MONDO:0016281 46,XX ovotesticular disorder of sex development NANDO:2200387 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ovotesticular dsd +MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:1200150 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuronal ceroid-lipofuscinosis +MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:2200573 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuronal ceroid lipofuscinoses +MONDO:0016296 holoprosencephaly NANDO:2200819 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Holoprosencephaly +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200699 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete transposition of the great arteries +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200701 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete transposition of the great arteries (Group2) +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200703 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete transposition of the great arteries (Group4) +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2100079 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenitally corrected transposition of the great arteries +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2200259 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenitally corrected transposition of the great arteries +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation NANDO:1200701 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete transposition of the great arteries (Group2) +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration NANDO:1200535 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Classic pantothenate kinase-associated neurodegeneration +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration NANDO:1200536 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atypical pantothenate kinase-associated neurodegeneration +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:1200065 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult-onset Niemann-Pick disease type C +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:2201209 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult-onset Niemann-Pick disease type C +MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:1200098 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hunter syndrome type A +MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:2201173 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type II, severe form +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:1200099 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hunter syndrome type B +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201171 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type II, attenuated form +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201172 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type II, intermediate form +MONDO:0016318 progressive multifocal leukoencephalopathy NANDO:1200205 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive multifocal leukoencephalopathy +MONDO:0016345 non-familial restrictive cardiomyopathy NANDO:1200294 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Secondary restrictive cardiomyopathy +MONDO:0016349 congenital hydrocephalus NANDO:2200822 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hydrocephalus +MONDO:0016356 diffuse cutaneous systemic sclerosis NANDO:1201010 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diffuse cutaneous systemic sclerosis +MONDO:0016358 limited cutaneous systemic sclerosis NANDO:1201011 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Limited cutaneous systemic sclerosis +MONDO:0016367 dermatomyositis NANDO:1200274 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dermatomyositis +MONDO:0016383 nephrogenic diabetes insipidus NANDO:1200742 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital nephrogenic diabetes insipidus +MONDO:0016383 nephrogenic diabetes insipidus NANDO:2200326 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephrogenic diabetes insipidus +MONDO:0016391 neonatal diabetes mellitus NANDO:2200463 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neonatal diabetes mellitus +MONDO:0016407 oligomeganephronia NANDO:2200159 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oligomeganephronia +MONDO:0016410 central congenital hypothyroidism NANDO:1200390 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thyroid-stimulating hormone deficiency +MONDO:0016410 central congenital hypothyroidism NANDO:2200332 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thyroid-stimulating hormone deficiency +MONDO:0016410 central congenital hypothyroidism NANDO:2200340 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central hypothyroidism +MONDO:0016418 multiple system atrophy, cerebellar type NANDO:1200035 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple system atrophy, cerebellar type +MONDO:0016430 Balo concentric sclerosis NANDO:1200028 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Baló concentric sclerosis +MONDO:0016484 Usher syndrome type 2 NANDO:1200943 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Usher syndrome Type II +MONDO:0016485 Usher syndrome type 3 NANDO:1200944 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Usher syndrome Type III +MONDO:0016512 Kabuki syndrome NANDO:1200672 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kabuki syndrome +MONDO:0016512 Kabuki syndrome NANDO:2200956 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kabuki syndrome +MONDO:0016525 familial hyperaldosteronism NANDO:2200602 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial hypercholesterolemia +MONDO:0016532 Lennox-Gastaut syndrome NANDO:1200591 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lennox-Gastaut syndrome +MONDO:0016532 Lennox-Gastaut syndrome NANDO:2200879 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lennox-Gastaut syndrome +MONDO:0016535 hypohidrotic ectodermal dysplasia NANDO:2201005 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anhidrotic ectodermal dysplasia +MONDO:0016536 autosomal recessive lymphoproliferative disease NANDO:2200735 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp CD27 deficiency +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome NANDO:2200446 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IL10 deficiency +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:1200786 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tetrahydrobiopterin deficiency +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2200594 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tetrahydrobiopterin deficiency +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2201076 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp BH4 deficiency +MONDO:0016575 primary ciliary dyskinesia NANDO:2100034 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary ciliary dyskinesia +MONDO:0016575 primary ciliary dyskinesia NANDO:2200203 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary ciliary dyskinesia +MONDO:0016575 primary ciliary dyskinesia NANDO:2200204 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kartagener syndrome +MONDO:0016581 conotruncal heart malformations NANDO:2200275 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Double-chambered right ventricle +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2100055 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Arrhythmogenic right ventricular cardiomyopathy or dysplasia +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2200230 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Arrhythmogenic right ventricular cardiomyopathy or dysplasia +MONDO:0016594 superficial siderosis NANDO:1200543 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Superficial siderosis +MONDO:0016597 obsolete generalized pustular psoriasis NANDO:1200240 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pustular psoriasis +MONDO:0016600 acute neonatal citrullinemia type I NANDO:2201094 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neonatal-onset argininosuccinate synthetase deficiency +MONDO:0016601 adult-onset citrullinemia type I NANDO:2201095 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Late-onset argininosuccinate synthetase deficiency +MONDO:0016602 citrin deficiency NANDO:1200978 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Citrin deficiency +MONDO:0016602 citrin deficiency NANDO:2200483 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Citrin deficiency +MONDO:0016603 citrullinemia type II NANDO:1200980 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult-onset type II citrullinemia +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:1200642 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pachydermoperiostosis +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2100288 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pachydermoperiostosis +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2201004 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pachydermoperiostosis +MONDO:0016642 meningioma NANDO:2200094 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Meningioma +MONDO:0016684 anaplastic astrocytoma NANDO:2200086 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anaplastic astrocytoma +MONDO:0016686 diffuse astrocytoma NANDO:2200085 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diffuse astrocytoma +MONDO:0016691 pilocytic astrocytoma NANDO:2200084 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pilocytic astrocytoma +MONDO:0016695 oligodendroglioma NANDO:2200089 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oligodendroglioma +MONDO:0016698 ependymoma NANDO:2200088 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ependymoma +MONDO:0016723 pineocytoma NANDO:2200092 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pineocytoma +MONDO:0016730 gangliocytoma NANDO:2200097 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gangliocytoma +MONDO:0016733 ganglioglioma NANDO:2200096 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ganglioglioma +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA NANDO:2200524 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diseases due to mitochondrial DNA mutation +MONDO:0016812 dopa-responsive dystonia NANDO:1200516 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 5 +MONDO:0016812 dopa-responsive dystonia NANDO:2200885 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Segawa syndrome +MONDO:0016820 Moyamoya disease NANDO:1200183 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Moyamoya disease +MONDO:0016820 Moyamoya disease NANDO:2100228 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Moyamoya disease +MONDO:0016820 Moyamoya disease NANDO:2200850 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Moyamoya disease +MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:1200492 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Emery-Dreifuss muscular dystrophy +MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:2200857 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Emery-Dreifuss muscular dystrophy +MONDO:0016952 partial duplication of the long arm of chromosome 1 NANDO:1200958 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Partial trisomy 1q +MONDO:0016971 limb-girdle muscular dystrophy NANDO:1200490 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Limb-girdle muscular dystrophy +MONDO:0016971 limb-girdle muscular dystrophy NANDO:2200858 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Limb-girdle muscular dystrophy +MONDO:0016987 neuroacanthocytosis NANDO:1200013 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuroacanthocytosis +MONDO:0017025 Langerhans cell histiocytosis specific to childhood NANDO:2200031 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Langerhans cell histiocytosis +MONDO:0017029 Langerhans cell histiocytosis specific to adulthood NANDO:2200031 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Langerhans cell histiocytosis +MONDO:0017042 thanatophoric dysplasia NANDO:1200874 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thanatophoric dysplasia +MONDO:0017051 classic maple syrup urine disease NANDO:2201078 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Classic form maple syrup urine disease +MONDO:0017052 intermediate maple syrup urine disease NANDO:2201079 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intermediate maple syrup urine disease +MONDO:0017053 intermittent maple syrup urine disease NANDO:2201080 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intermittent maple syrup urine disease +MONDO:0017054 thiamine-responsive maple syrup urine disease NANDO:2201081 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thiamine-responsive maple syrup urine disease +MONDO:0017069 spina bifida cystica NANDO:1200509 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelomeningocele +MONDO:0017069 spina bifida cystica NANDO:2100215 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelomeningocele +MONDO:0017069 spina bifida cystica NANDO:2200814 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelomeningocele +MONDO:0017079 meningoencephalocele NANDO:2200813 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Meningoencephalocele +MONDO:0017096 isolated focal cortical dysplasia type Ia NANDO:1200565 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Focal cortical dysplasia type 1a +MONDO:0017097 isolated focal cortical dysplasia type Ib NANDO:1200566 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Focal cortical dysplasia type 1b +MONDO:0017098 isolated focal cortical dysplasia type Ic NANDO:1200567 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Focal cortical dysplasia type 1c +MONDO:0017101 isolated focal cortical dysplasia type IIa NANDO:1200568 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Focal cortical dysplasia type 2a +MONDO:0017102 isolated focal cortical dysplasia type IIb NANDO:1200569 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Focal cortical dysplasia type 2b +MONDO:0017147 idiopathic pulmonary arterial hypertension NANDO:2201046 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic pulmonary arterial hypertension +MONDO:0017148 heritable pulmonary arterial hypertension NANDO:2201047 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial pulmonary arterial hypertension +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease NANDO:2201048 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Secondary pulmonary arterial hypertension +MONDO:0017160 behavioral variant of frontotemporal dementia NANDO:1200549 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Behavioral variant frontotemporal dementia +MONDO:0017169 multiple endocrine neoplasia NANDO:2100148 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple endocrine neoplasia +MONDO:0017182 familial hyperinsulinism NANDO:2100143 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperinsulinemic hypoglycemia +MONDO:0017182 familial hyperinsulinism NANDO:2200399 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hyperinsulinemia +MONDO:0017198 osteopetrosis NANDO:1200998 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteopetrosis +MONDO:0017198 osteopetrosis NANDO:2201013 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteopetrosis +MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:1200577 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pelizaeus-Merzbacher like disease +MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:2201289 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pelizaeus-Merzbacher like disease +MONDO:0017234 inherited prion disease NANDO:1200188 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Genetic prion diseases +MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200714 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rapidly progressive glomerulonephritis +MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200723 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crescentic glomerulonephritis +MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:1200615 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis +MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:2200991 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal recessive congenital ichthyosis +MONDO:0017266 keratinopathic ichthyosis NANDO:1200610 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Keratinopathic ichthyosis +MONDO:0017266 keratinopathic ichthyosis NANDO:2200987 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Keratinopathic ichthyosis +MONDO:0017276 frontotemporal dementia NANDO:1200548 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Frontotemporal lobar degeneration +MONDO:0017278 autoimmune polyendocrinopathy NANDO:2100125 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune polyendocrinopathy +MONDO:0017287 IgG4-related disease NANDO:1200923 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IgG4-related disease +MONDO:0017287 IgG4-related disease NANDO:1200924 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IgG4-related disease +MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:1200648 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, vascular type +MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:2201258 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, vascular type +MONDO:0017319 hereditary elliptocytosis NANDO:2200630 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary elliptocytosis +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency NANDO:2200536 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Phosphoenolpyruvate carboxykinase deficiency +MONDO:0017353 neonatal glycine encephalopathy NANDO:1200985 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neonatal nonketotic hyperglycinemia +MONDO:0017354 infantile glycine encephalopathy NANDO:1200986 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile nonketotic hyperglycinemia +MONDO:0017359 3-methylglutaconic aciduria NANDO:1200989 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylglutaconic aciduria +MONDO:0017359 3-methylglutaconic aciduria NANDO:2200496 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylglutaconic aciduria +MONDO:0017361 congenital rubella syndrome NANDO:2200890 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital rubella syndrome +MONDO:0017364 POEMS syndrome NANDO:1200033 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Crow-Fukase syndrome +MONDO:0017380 juvenile polyposis syndrome NANDO:2200916 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile polyposis +MONDO:0017381 congenital herpes simplex virus infection NANDO:2200889 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital herpes simplex virus infection +MONDO:0017385 malignant migrating partial seizures of infancy NANDO:1200595 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epilepsy of infancy with migrating focal seizures +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:1200787 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tetrahydrobiopterin-responsive hyperphenylalaninemia +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:2201077 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp BH4-responsive hyperphenylalaninemia +MONDO:0017398 3MC syndrome NANDO:2200792 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Malpuech-Michels-Mingarelli-Carnevale syndrome +MONDO:0017409 fetal cytomegalovirus syndrome NANDO:2200891 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital cytomegalovirus infection +MONDO:0017410 porencephaly NANDO:1201074 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Porencephaly +MONDO:0017570 leukocyte adhesion deficiency NANDO:1200355 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leukocyte adhesion deficiency +MONDO:0017570 leukocyte adhesion deficiency NANDO:2200755 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Leukocyte adhesion deficiency +MONDO:0017574 chronic intestinal pseudoobstruction NANDO:1200458 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic idiopathic intestinal pseudo-obstruction +MONDO:0017574 chronic intestinal pseudoobstruction NANDO:2200946 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic idiopathic intestinal pseudo-obstruction +MONDO:0017608 obsolete dystrophic epidermolysis bullosa NANDO:2201343 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystrophic epidermolysis bullosa +MONDO:0017610 epidermolysis bullosa simplex NANDO:1200235 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epidermolysis bullosa simplex +MONDO:0017610 epidermolysis bullosa simplex NANDO:2201341 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epidermolysis bullosa simplex +MONDO:0017610 epidermolysis bullosa simplex NANDO:2201375 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal dominant epidermolysis bullosa simplex +MONDO:0017612 junctional epidermolysis bullosa NANDO:1200236 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Junctional epidermolysis bullosa +MONDO:0017612 junctional epidermolysis bullosa NANDO:2201342 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Junctional epidermolysis bullosa +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency NANDO:1200824 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage diseases type 0 +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:1200139 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Classic infantile Pompe disease +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:2201229 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Classic infantile Pompe disease +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form NANDO:2201159 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IV, hepatic form +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form NANDO:2201160 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IV, non-progressive hepatic form +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form NANDO:2201161 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IV, fatal neuromuscular form +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form NANDO:2201162 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IV, childhood combined hepatic and myopathic form +MONDO:0017708 mevalonate kinase deficiency NANDO:2200436 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyper IgD syndrome +MONDO:0017716 disorder of carnitine cycle and carnitine transport NANDO:1200969 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carnitine cycle disorders +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes NANDO:2200522 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial respiratory chain disorders +MONDO:0017720 GM2 gangliosidosis NANDO:1200070 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GM2 gangliosidosis +MONDO:0017720 GM2 gangliosidosis NANDO:2200559 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GM2 gangliosidosis +MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:1200079 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Late infantile metachromatic leukodystrophy +MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:2201202 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Metachromatic leukodystrophy, late infantile form +MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:1200081 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult metachromatic leukodystrophy +MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:2201204 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Metachromatic leukodystrophy, adult form +MONDO:0017732 alpha-mannosidosis, infantile form NANDO:1200127 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-mannosidosis, infantile form +MONDO:0017732 alpha-mannosidosis, infantile form NANDO:2201188 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-mannosidosis, infantile form +MONDO:0017733 alpha-mannosidosis, adult form NANDO:1200128 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-mannosidosis, adult form +MONDO:0017733 alpha-mannosidosis, adult form NANDO:2201189 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-mannosidosis, adult form +MONDO:0017734 sialidosis NANDO:1200116 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sialidosis +MONDO:0017734 sialidosis NANDO:2200556 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sialidosis +MONDO:0017737 intermediate severe Salla disease NANDO:1200148 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intermediate severe Salla disease +MONDO:0017737 intermediate severe Salla disease NANDO:2201238 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intermediate severe Salla disease +MONDO:0017746 atypical Rett syndrome NANDO:1200605 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atypical Rett syndrome +MONDO:0017773 hypoalphalipoproteinemia NANDO:2200605 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp HDL deficiency +MONDO:0017778 lamellar ichthyosis NANDO:1200617 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lamellar ichthyosis +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency NANDO:1200134 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schindler disease +MONDO:0017816 primary systemic amyloidosis NANDO:1200209 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Systemic amyloidosis +MONDO:0017827 malignant peripheral nerve sheath tumor NANDO:2200102 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Malignant neurinoma +MONDO:0017838 sclerosteosis NANDO:2201369 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sclerosteosis +MONDO:0017842 Senior-Loken syndrome NANDO:1201049 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Senior-Loken syndrome +MONDO:0017858 acute erythroid leukemia NANDO:2200010 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute erythremia +MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:1200964 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital pulmonary vein stenosis +MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:2200273 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary venous obstruction +MONDO:0017870 supravalvular pulmonary stenosis NANDO:2200278 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Supravalvular pulmonary stenosis +MONDO:0017910 dehydrated hereditary stomatocytosis NANDO:2200633 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Stomatocytic xerocytosis +MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:1200352 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune lymphoproliferative syndrome +MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:2200726 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune lymphoproliferative syndrome +MONDO:0017986 disorder of plasmalogens biosynthesis NANDO:1200770 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Plasmalogen biosynthesis enzyme deficiency +MONDO:0017987 syringomyelia NANDO:1200506 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Syringomyelia +MONDO:0017987 syringomyelia NANDO:1200507 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Symptomatic syringomyelia +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200216 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polymorphic ventricular premature beat +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200221 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Catecholaminergic polymorphic ventricular tachycardia +MONDO:0017991 Takayasu arteritis NANDO:1200251 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Takayasu arteritis +MONDO:0017991 Takayasu arteritis NANDO:2200423 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Takayasu arteritis +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration NANDO:1200541 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fatty acid hydroxylase-associated neurodegeneration +MONDO:0018018 wild type ATTR amyloidosis NANDO:1200212 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Transthyretin-related senile systemic amyloidosis +MONDO:0018029 congenital factor XIII deficiency NANDO:2200681 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor XIII deficiency +MONDO:0018035 obsolete syndrome with combined immunodeficiency NANDO:2100203 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Combined immunodeficiency +MONDO:0018037 hyper-IgE syndrome NANDO:1200340 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyper-IgE syndrome +MONDO:0018037 hyper-IgE syndrome NANDO:2200713 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyper-IgE syndrome +MONDO:0018048 heparin-induced thrombocytopenia NANDO:2200648 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Heparin-induced thrombocytopenia +MONDO:0018053 trichothiodystrophy NANDO:1200627 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Trichothiodystrophy +MONDO:0018065 isolated trigonocephaly NANDO:2201305 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-syndromic metopic craniosynostosis +MONDO:0018068 trisomy 13 NANDO:2200964 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Trisomy 13 +MONDO:0018071 trisomy 18 NANDO:2200963 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Trisomy 18 +MONDO:0018072 persistent truncus arteriosus NANDO:1200693 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Truncus arteriosus communis +MONDO:0018072 persistent truncus arteriosus NANDO:2200261 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Truncus arteriosus communis +MONDO:0018088 familial Mediterranean fever NANDO:1200863 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial Mediterranean fever +MONDO:0018088 familial Mediterranean fever NANDO:2200431 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial Mediterranean fever +MONDO:0018089 double outlet right ventricle NANDO:1200710 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Double outlet right ventricle +MONDO:0018089 double outlet right ventricle NANDO:2100076 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Double outlet right ventricle +MONDO:0018089 double outlet right ventricle NANDO:2200256 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Double outlet right ventricle +MONDO:0018090 double outlet left ventricle NANDO:2100077 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Double-outlet left ventricle +MONDO:0018090 double outlet left ventricle NANDO:2200257 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Double-outlet left ventricle +MONDO:0018097 West syndrome NANDO:1200592 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp West syndrome +MONDO:0018097 West syndrome NANDO:2200878 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp West syndrome +MONDO:0018105 Wolfram syndrome NANDO:1200757 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Wolfram syndrome +MONDO:0018112 isolated scaphocephaly NANDO:2201302 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-syndromic sagittal craniosynostosis +MONDO:0018149 GM1 gangliosidosis NANDO:1200066 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GM1 gangliosidosis +MONDO:0018149 GM1 gangliosidosis NANDO:2200558 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp GM1 Gangliosidosis +MONDO:0018150 Gaucher disease NANDO:1200056 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gaucher disease +MONDO:0018150 Gaucher disease NANDO:2200562 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gaucher disease +MONDO:0018153 Erdheim-Chester disease NANDO:2200038 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Erdheim-Chester disease +MONDO:0018155 lateral sclerosis NANDO:1200008 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary lateral sclerosis +MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200523 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial DNA depletion syndrome +MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200528 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diseases due to mitochondrial DNA deletion +MONDO:0018170 idiopathic nephrotic syndrome NANDO:1200719 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary nephrotic syndrome +MONDO:0018175 combined deficiency of factor V and factor VIII NANDO:2200686 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Combined deficiency of coagulation factors V and VIII +MONDO:0018177 glioblastoma NANDO:2200087 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glioblastoma +MONDO:0018178 intestinal lymphangiectasia NANDO:2100256 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intestinal lymphangiectasia +MONDO:0018178 intestinal lymphangiectasia NANDO:2200914 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intestinal lymphangiectasia +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:1200552 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute encephalopathy with biphasic seizures and late reduced diffusion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2100247 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute encephalopathy with biphasic seizures and late reduced diffusion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2200901 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute encephalopathy with biphasic seizures and late reduced diffusion +MONDO:0018209 Alexander disease type I NANDO:1200555 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alexander disease type I +MONDO:0018210 Alexander disease type II NANDO:1200556 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alexander disease type II +MONDO:0018229 Stevens-Johnson syndrome NANDO:1200245 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Stevens-Johnson syndrome +MONDO:0018229 Stevens-Johnson syndrome NANDO:2100290 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Stevens-Johnson syndrome +MONDO:0018229 Stevens-Johnson syndrome NANDO:2201006 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Stevens-Johnson syndrome +MONDO:0018240 TRPV4-related bone disorder NANDO:2201021 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:1201020 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type IX +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:2200544 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glycogen storage disease type IX +MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200054 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primitive neuroectodermal tumors +MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200055 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peripheral primitive neuroectodermal tumors +MONDO:0018301 interstitial cystitis NANDO:1200743 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Interstitial cystitis (Hunner type) +MONDO:0018305 chronic granulomatous disease NANDO:1200357 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic granulomatous disease +MONDO:0018305 chronic granulomatous disease NANDO:2200757 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic granulomatous disease +MONDO:0018306 Griscelli syndrome NANDO:1200640 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Griscelli syndrome +MONDO:0018307 neurodegeneration with brain iron accumulation NANDO:2100241 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurodegeneration with brain iron accumulation +MONDO:0018309 Hirschsprung disease NANDO:1200903 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hirschsprung disease +MONDO:0018309 Hirschsprung disease NANDO:2200945 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hirschsprung disease +MONDO:0018309 Hirschsprung disease NANDO:2200948 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital Isolated Hypoganglionosis +MONDO:0018310 Langerhans cell histiocytosis NANDO:2200031 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Langerhans cell histiocytosis +MONDO:0018328 homozygous familial hypercholesterolemia NANDO:1200394 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Homozygous familial hypercholesterolemia +MONDO:0018328 homozygous familial hypercholesterolemia NANDO:2201255 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Homozygous familial hypercholesterolemia +MONDO:0018348 obsolete polyglucosan body myopathy type 1 NANDO:2200456 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp RBCK1 deficiency +MONDO:0018438 eosinophilic gastrointestinal disease NANDO:1200454 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Eosinophilic gastrointestinal disorders +MONDO:0018438 eosinophilic gastrointestinal disease NANDO:2200807 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Eosinophilic gastrointestinal disorders +MONDO:0018467 nephropathic infantile cystinosis NANDO:1200162 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephropathic cystinosis +MONDO:0018467 nephropathic infantile cystinosis NANDO:2201234 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephropathic cystinosis +MONDO:0018470 renal agenesis NANDO:2200156 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renal aplasia +MONDO:0018479 congenital adrenal hyperplasia NANDO:1200396 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital adrenal enzyme deficiency +MONDO:0018479 congenital adrenal hyperplasia NANDO:1200397 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital lipoid adrenal hyperplasia +MONDO:0018479 congenital adrenal hyperplasia NANDO:2100134 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital adrenal hyperplasia +MONDO:0018479 congenital adrenal hyperplasia NANDO:2200370 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital lipoid adrenal hyperplasia +MONDO:0018483 secondary pulmonary alveolar proteinosis NANDO:1200749 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Secondary Pulmonary Alveolar Proteinosis +MONDO:0018542 severe congenital neutropenia NANDO:1200353 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Severe congenital neutropenia +MONDO:0018542 severe congenital neutropenia NANDO:2200745 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Severe congenital neutropenia +MONDO:0018544 adrenoleukodystrophy NANDO:1200165 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adrenoleukodystrophy +MONDO:0018544 adrenoleukodystrophy NANDO:2200576 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adrenoleukodystrophy +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200426 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200428 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pulmonary capillary hemangiomatosis +MONDO:0018555 hypogonadotropic hypogonadism NANDO:1200388 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypogonadotropic hypogonadism +MONDO:0018555 hypogonadotropic hypogonadism NANDO:2100138 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypogonadotropic hypogonadism +MONDO:0018555 hypogonadotropic hypogonadism NANDO:2200382 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypogonadotropic hypogonadism +MONDO:0018570 hypophosphatasia NANDO:1200656 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypophosphatasia +MONDO:0018570 hypophosphatasia NANDO:2201012 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypophosphatasia +MONDO:0018598 obsolete neonatal adrenoleukodystrophy NANDO:1200761 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neonatal adrenoleukodystrophy +MONDO:0018612 congenital hypothyroidism NANDO:2200333 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hypothyroidism +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome NANDO:2200325 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adipsic hypernatremia +MONDO:0018638 pseudohypoaldosteronism NANDO:2100133 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoaldosteronism +MONDO:0018638 pseudohypoaldosteronism NANDO:2200367 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoaldosteronism +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200300 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200311 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Paroxysmal nocturnal hemoglobinuria +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2100182 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Paroxysmal nocturnal haemoglobinuria +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2200621 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Paroxysmal nocturnal hemoglobinuria +MONDO:0018645 IgG4-related sclerosing cholangitis NANDO:1200928 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IgG4-related sclerosing cholangitis +MONDO:0018646 sclerosing cholangitis NANDO:1200440 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary sclerosing cholangitis +MONDO:0018646 sclerosing cholangitis NANDO:2100265 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary sclerosing cholangitis +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:1200583 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:2201295 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum +MONDO:0018666 hepatoblastoma NANDO:2200046 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatoblastoma +MONDO:0018671 IgG4-related kidney disease NANDO:1200930 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IgG4-related kidney disease +MONDO:0018686 acquired Creutzfeldt-Jakob disease NANDO:1200192 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Environmentally acquired Creutzfeldt-Jakob disease +MONDO:0018737 catastrophic antiphospholipid syndrome NANDO:1200270 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Catastrophic antiphospholipid syndrome +MONDO:0018746 mucous membrane pemphigoid NANDO:1200634 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucous membrane pemphigoid +MONDO:0018747 acquired epidermolysis bullosa NANDO:1200635 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epidermolysis bullosa acquisita +MONDO:0018762 non-acquired combined pituitary hormone deficiency NANDO:2200312 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hypopituitarism +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2100261 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic nonspecific multiple ulcers of the small intestine +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2200925 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic nonspecific multiple ulcers of the small intestine +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:1200466 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial cold autoinflammatorysyndrome +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200449 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp NLRP12-associated periodic syndrome +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200454 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp NLRP12-associated periodic syndrome +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2201068 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp familial cold autoinflammatory syndrome +MONDO:0018778 intermediate Charcot-Marie-Tooth disease NANDO:1200019 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Intermediate Charcot-Marie-Tooth disease +MONDO:0018781 KID syndrome NANDO:1200621 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Keratitis-ichthyosis-deafness syndrome +MONDO:0018781 KID syndrome NANDO:2200996 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Keratitis-ichthyosis-deafness syndrome +MONDO:0018800 Kallmann syndrome NANDO:2200381 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Kallmann syndrome +MONDO:0018808 Caroli syndrome NANDO:2200934 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Caroli disease +MONDO:0018824 pyoderma gangrenosum NANDO:2200437 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0018838 lissencephaly spectrum disorders NANDO:1200574 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuronal migration defects +MONDO:0018838 lissencephaly spectrum disorders NANDO:2200817 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lissencephaly +MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2100267 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hepatic fibrosis +MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2200936 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hepatic fibrosis +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:1200996 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aicardi-Goutières Syndrome +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2100244 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aicardi-Goutières Syndrome +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2200893 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aicardi-Goutières Syndrome +MONDO:0018868 metachromatic leukodystrophy NANDO:1200078 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Metachromatic leukodystrophy +MONDO:0018868 metachromatic leukodystrophy NANDO:2200560 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Metachromatic leukodystrophy +MONDO:0018869 cobblestone lissencephaly NANDO:1201072 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cobblestone brain malformation +MONDO:0018872 acute megakaryoblastic leukemia NANDO:2200011 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute megakaryoblastic leukemia +MONDO:0018878 branchiootic syndrome NANDO:1200675 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Branchio-oto-renal syndrome +MONDO:0018881 myelodysplastic syndrome NANDO:2100003 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelodysplastic syndrome +MONDO:0018881 myelodysplastic syndrome NANDO:2200019 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelodysplastic syndrome +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:1200859 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Generalized congenital lipodystrophy +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:2200465 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lipoatrophic diabetes +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:1200316 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thrombotic thrombocytopenic purpura +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2100189 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thrombotic thrombocytopenic purpura +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2200649 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thrombotic thrombocytopenic purpura +MONDO:0018901 left ventricular noncompaction NANDO:2200231 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-compaction of the ventricle +MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:1200725 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary membranoproliferative glomerulonephritis +MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:2200123 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Membranoproliferative glomerulonephritis +MONDO:0018907 craniopharyngioma NANDO:2200091 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Craniopharyngioma +MONDO:0018910 oculocutaneous albinism NANDO:1200637 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oculocutaneous albinism +MONDO:0018910 oculocutaneous albinism NANDO:1200641 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-syndromic oculocutaneous albinism +MONDO:0018910 oculocutaneous albinism NANDO:2200986 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oculocutaneous albinism +MONDO:0018911 maturity-onset diabetes of the young NANDO:2200462 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Maturity-onset diabetes of the young +MONDO:0018919 McCune-Albright syndrome NANDO:2200412 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp McCune-Albright syndrome +MONDO:0018922 cold agglutinin disease NANDO:1200307 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cold agglutinin disease +MONDO:0018922 cold agglutinin disease NANDO:2200618 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cold agglutinin disease +MONDO:0018923 22q11.2 deletion syndrome NANDO:1200339 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thymus hypoplasia +MONDO:0018923 22q11.2 deletion syndrome NANDO:1200688 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 22q11.2 deletion syndrome +MONDO:0018923 22q11.2 deletion syndrome NANDO:2200712 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thymus hypoplasia +MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:1200125 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucolipidosis III +MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:2200568 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucolipidosis III +MONDO:0018937 mucopolysaccharidosis type 3 NANDO:1200100 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sanfilippo disease +MONDO:0018937 mucopolysaccharidosis type 3 NANDO:2200549 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type III +MONDO:0018938 mucopolysaccharidosis type 4 NANDO:1200105 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Morquio syndrome +MONDO:0018938 mucopolysaccharidosis type 4 NANDO:2200550 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mucopolysaccharidosis type IV +MONDO:0018940 congenital myasthenic syndrome NANDO:1200021 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital myasthenic syndrome +MONDO:0018945 McLeod neuroacanthocytosis syndrome NANDO:1200015 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp McLeod syndrome +MONDO:0018947 centronuclear myopathy NANDO:1200481 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myotubular myopathy +MONDO:0018947 centronuclear myopathy NANDO:1200482 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Centronuclear myopathy +MONDO:0018947 centronuclear myopathy NANDO:2200867 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myotubular myopathy +MONDO:0018948 multiminicore myopathy NANDO:1200480 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Minicore myopathy +MONDO:0018948 multiminicore myopathy NANDO:2200871 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multicore disease +MONDO:0018949 distal myopathy NANDO:1200216 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Distal myopathy +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency NANDO:2200495 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp 3-methylcrotonyl-CoA carboxylase deficiency +MONDO:0018954 Loeys-Dietz syndrome NANDO:2200969 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Loeys-Dietz syndrome +MONDO:0018958 nemaline myopathy NANDO:1200478 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nemaline myopathy +MONDO:0018958 nemaline myopathy NANDO:2200869 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nemaline myopathy +MONDO:0018959 potassium-aggravated myotonia NANDO:1200500 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sodium channel myotonia +MONDO:0018960 congenital primary megaureter NANDO:2200184 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Megaureter +MONDO:0018965 Alport syndrome NANDO:1200712 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alport's syndrome +MONDO:0018965 Alport syndrome NANDO:2200126 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alport syndrome +MONDO:0018974 paraneoplastic pemphigus NANDO:1200231 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Paraneoplastic pemphigus +MONDO:0018975 neurofibromatosis type 1 NANDO:1200225 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurofibromatosis +MONDO:0018975 neurofibromatosis type 1 NANDO:1200226 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurofibromatosis type 1 +MONDO:0018975 neurofibromatosis type 1 NANDO:2100287 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp von Recklinghausen's disease +MONDO:0018975 neurofibromatosis type 1 NANDO:2201003 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp von Recklinghausen's disease +MONDO:0018979 multifocal motor neuropathy NANDO:1200031 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multifocal motor neuropathy +MONDO:0018982 Niemann-Pick disease type C NANDO:1200063 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Niemann-Pick disease type C +MONDO:0018993 Charcot-Marie-Tooth disease type 2 NANDO:1200018 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Charcot-Marie-Tooth disease type 2 +MONDO:0018997 Noonan syndrome NANDO:1200680 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Noonan syndrome +MONDO:0018997 Noonan syndrome NANDO:2200413 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Noonan syndrome +MONDO:0018999 LCAT deficiency NANDO:1200852 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lecithin cholesterol acyltransferase deficiency +MONDO:0019003 multiple endocrine neoplasia type 2 NANDO:2200406 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple endocrine neoplasia type 2 +MONDO:0019004 kidney Wilms tumor NANDO:2200043 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Wilms tumour +MONDO:0019005 nephronophthisis NANDO:1201036 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephronophthisis +MONDO:0019005 nephronophthisis NANDO:2100015 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephronophthisis +MONDO:0019005 nephronophthisis NANDO:2200140 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephronophthisis +MONDO:0019005 nephronophthisis NANDO:2200170 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Medullary cystic kidney +MONDO:0019009 isolated focal cortical dysplasia NANDO:1200564 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Focal cortical dysplasia +MONDO:0019011 Charcot-Marie-Tooth disease type 1 NANDO:1200017 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Charcot-Marie-Tooth disease type 1 +MONDO:0019012 Carpenter syndrome NANDO:2200847 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Carpenter syndrome +MONDO:0019019 osteogenesis imperfecta NANDO:1200873 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteogenesis imperfecta +MONDO:0019019 osteogenesis imperfecta NANDO:2201011 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osteogenesis imperfecta +MONDO:0019029 segmental odontomaxillary dysplasia NANDO:1200561 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Septo-optic dysplasia +MONDO:0019035 pancreatoblastoma NANDO:2200082 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pancreatoblastoma +MONDO:0019037 progressive supranuclear palsy NANDO:1200009 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive supranuclear palsy +MONDO:0019040 chromosomal disorder NANDO:1100014 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chromosome abnormality +MONDO:0019040 chromosomal disorder NANDO:2100279 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chromosome abnormality +MONDO:0019040 chromosomal disorder NANDO:2100280 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chromosome abnormality +MONDO:0019046 leukodystrophy NANDO:1200575 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hypomyelinating leukodystrophy +MONDO:0019046 leukodystrophy NANDO:2200836 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital hypomyelinating leukodystrophy +MONDO:0019052 inborn errors of metabolism NANDO:2100159 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Inborn errors of metabolism +MONDO:0019053 peroxisomal disease NANDO:1200758 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peroxisomal disorder +MONDO:0019053 peroxisomal disease NANDO:2100166 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peroxisomal disorder +MONDO:0019056 neuromuscular disease NANDO:1100001 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuromuscular disease +MONDO:0019056 neuromuscular disease NANDO:2100214 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuromuscular disease +MONDO:0019064 hereditary spastic paraplegia NANDO:1200052 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary spastic paraplegia +MONDO:0019065 amyloidosis NANDO:2200138 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Amyloid nephropathy +MONDO:0019079 proximal spinal muscular atrophy NANDO:2100231 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Spinal muscular atrophy +MONDO:0019082 bullous pemphigoid NANDO:1200632 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pemphigoid (including Epidermolysis bullosa acquisita) +MONDO:0019082 bullous pemphigoid NANDO:1200633 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bullous pemphigoid +MONDO:0019100 neuromyelitis optica NANDO:1200027 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuromyelitis optica spectrum disorders +MONDO:0019100 neuromyelitis optica NANDO:2201322 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neuromyelitis optica +MONDO:0019123 continuous spikes and waves during sleep NANDO:1200601 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epileptic encephalopathy with continuous spike-and-wave during sleep +MONDO:0019124 microscopic polyangiitis NANDO:1200262 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Microscopic polyangiitis +MONDO:0019124 microscopic polyangiitis NANDO:2200426 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Microscopic polyangiitis +MONDO:0019125 relapsing polychondritis NANDO:1200283 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Relapsing polychondritis +MONDO:0019125 relapsing polychondritis NANDO:2100154 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Relapsing Polychondritis +MONDO:0019125 relapsing polychondritis NANDO:2200428 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Relapsing polychondritis +MONDO:0019127 polymyositis NANDO:1200276 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polymyositis +MONDO:0019139 acquired hemophilia NANDO:1200898 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired hemophilia A +MONDO:0019142 inherited porphyria NANDO:2200610 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital porphyria +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:1201080 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Protein C deficiency +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2100197 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Protein C deficiency +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2200689 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Protein C deficiency +MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:1200359 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mendelian susceptibility to mycobacterial disease +MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:2200759 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mendelian susceptibility to mycobacterial disease +MONDO:0019148 Wolman disease NANDO:1200142 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acid lipase deficiency +MONDO:0019148 Wolman disease NANDO:1200143 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Wolman disease +MONDO:0019148 Wolman disease NANDO:2200570 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acid lipase deficiency +MONDO:0019148 Wolman disease NANDO:2201232 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Wolman disease +MONDO:0019149 cholesteryl ester storage disease NANDO:1200144 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cholesterol ester storage disease +MONDO:0019149 cholesteryl ester storage disease NANDO:2201233 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cholesterol ester storage disease +MONDO:0019154 androgen insensitivity syndrome NANDO:2200391 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Androgen insensitivity syndrome +MONDO:0019161 pseudohypoaldosteronism type 1 NANDO:2200368 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoaldosteronism type I +MONDO:0019162 pseudohypoaldosteronism type 2 NANDO:2200369 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoaldosteronism type II +MONDO:0019165 central precocious puberty NANDO:1200381 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central precocious puberty +MONDO:0019165 central precocious puberty NANDO:2200377 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Gonadotropin-dependent precocious puberty +MONDO:0019169 pyruvate dehydrogenase deficiency NANDO:2200518 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pyruvate dehydrogenase complex deficiency +MONDO:0019170 polyarteritis nodosa NANDO:1200261 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polyarteritis nodosa +MONDO:0019170 polyarteritis nodosa NANDO:2200425 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polyangiitis nodosa +MONDO:0019171 familial long QT syndrome NANDO:2200228 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Long qt syndrome +MONDO:0019172 aniridia NANDO:1201001 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aniridia +MONDO:0019174 obsolete infantile Refsum disease NANDO:1200762 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile Refsum disease +MONDO:0019175 primary lymphedema NANDO:2201031 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary lymphedema +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:1200744 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Osler disease +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2100296 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary hemorrhagic telangiectasia +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2201034 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary hemorrhagic telangiectasia +MONDO:0019188 Rubinstein-Taybi syndrome NANDO:1200461 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rubinstein-Taybi syndrome +MONDO:0019188 Rubinstein-Taybi syndrome NANDO:2200955 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rubinstein-Taybi syndrome +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis NANDO:1200929 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IgG4-related dacryoadenitis and sialadenitis +MONDO:0019193 acquired generalized lipodystrophy NANDO:1200860 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired generalized lipodystrophy +MONDO:0019200 retinitis pigmentosa NANDO:1200431 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Retinitis pigmentosa +MONDO:0019203 acute interstitial pneumonia NANDO:1200420 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute interstitial pneumonia +MONDO:0019208 Bickerstaff brainstem encephalitis NANDO:1200551 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bickerstaff's brainstem encephalitis +MONDO:0019214 inborn carbohydrate metabolic disorder NANDO:2100164 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Disorder of carbohydrate metabolism +MONDO:0019218 inborn disorder of bile acid synthesis NANDO:2200506 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Inborn errors of bile acid metabolism +MONDO:0019233 disorder of peroxisomal beta oxidation NANDO:1200764 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peroxisomal beta-oxidation enzyme deficiency +MONDO:0019234 peroxisome biogenesis disorder NANDO:1200759 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peroxisome biogenesis disorders +MONDO:0019234 peroxisome biogenesis disorder NANDO:2200575 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Peroxisome biogenesis disorders +MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:1200155 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult neuronal ceroid lipofuscinosis +MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:2201244 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult neuronal ceroid lipofuscinosis +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:1200152 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile neuronal ceroid lipofuscinosis +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:2201241 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Infantile neuronal ceroid lipofuscinosis +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:1200154 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile neuronal ceroid lipofuscinosis +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:2201243 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile neuronal ceroid lipofuscinosis +MONDO:0019263 autosomal erythropoietic protoporphyria NANDO:1200815 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Erythropoietic protoporphyria +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 NANDO:1200137 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Schindler disease type 3 +MONDO:0019269 ichthyosis NANDO:1200618 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ichthyosis syndrome +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200616 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital ichthyosiform erythroderma +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200617 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Lamellar ichthyosis +MONDO:0019312 Hermansky-Pudlak syndrome NANDO:1200638 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hermansky-Pudlak syndrome +MONDO:0019322 pemphigus vegetans NANDO:1200232 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pemphigus vegetans +MONDO:0019323 pemphigus erythematosus NANDO:1200233 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pemphigus erythematosus +MONDO:0019324 pemphigus foliaceus NANDO:1200230 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pemphigus foliaceus +MONDO:0019328 macrocystic lymphatic malformation NANDO:1200881 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Giant lymphatic malformation (cervicofacial lesion) +MONDO:0019338 sarcoidosis NANDO:1200415 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sarcoidosis +MONDO:0019341 obsolete tuberous sclerosis complex NANDO:1200607 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tuberous sclerosis complex +MONDO:0019341 obsolete tuberous sclerosis complex NANDO:2200826 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tuberous sclerosis complex +MONDO:0019346 sialidosis type 1 NANDO:1200117 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sialidosis type 1 +MONDO:0019346 sialidosis type 1 NANDO:2201191 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sialidosis type 1 +MONDO:0019349 Sotos syndrome NANDO:1200679 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sotos syndrome +MONDO:0019349 Sotos syndrome NANDO:2200953 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sotos syndrome +MONDO:0019350 hereditary spherocytosis NANDO:2200622 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary spherocytosis +MONDO:0019353 Stargardt disease NANDO:1200933 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Stargardt disease +MONDO:0019355 adult-onset Still disease NANDO:1200282 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Adult Still's disease +MONDO:0019366 free sialic acid storage disease NANDO:1200146 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Free sialic acid storage disease +MONDO:0019366 free sialic acid storage disease NANDO:2200572 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Free Sialic Acid Storage Disease +MONDO:0019373 desmoplastic small round cell tumor NANDO:2200059 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Desmoplastic small round cell tumors +MONDO:0019391 Fanconi anemia NANDO:1200303 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fanconi anemia +MONDO:0019391 Fanconi anemia NANDO:1200891 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fanconi anemia +MONDO:0019391 Fanconi anemia NANDO:2200652 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Fanconi anemia +MONDO:0019399 Isaac syndrome NANDO:1200510 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Isaacs syndrome +MONDO:0019402 beta thalassemia NANDO:2201274 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp β-thalassemia +MONDO:0019403 congenital dyserythropoietic anemia NANDO:1200885 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital dyserythropoietic anemia +MONDO:0019403 congenital dyserythropoietic anemia NANDO:2100178 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital dyserythropoietic anemia +MONDO:0019403 congenital dyserythropoietic anemia NANDO:2200615 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital dyserythropoietic anemia +MONDO:0019408 Astley-Kendall dysplasia NANDO:2201362 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Astley-Kendall dysplasia +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia NANDO:2200647 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neonatal alloimmune thrombocytopenia +MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:1200471 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Articular-type juvenile idiopathic arthritis +MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:2201056 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oligoarticular juvenile idiopathic arthritis +MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:1200470 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Systemic juvenile idiopathic arthritis +MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:2201055 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Systemic juvenile idiopathic arthritis +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis NANDO:2201058 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rheumatoid factor-positive juvenile idiopathic arthritis +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis NANDO:2201060 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Enthesitis-related juvenile idiopathic arthritis +MONDO:0019438 AL amyloidosis NANDO:1200211 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Amyloid light-chain amyloidosis +MONDO:0019443 dextro-looped transposition of the great arteries NANDO:1200698 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Corrected transposition of great arteries +MONDO:0019448 benign adult familial myoclonic epilepsy NANDO:1200956 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Benign adult familial myoclonus epilepsy +MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200017 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute undifferentiated leukemia +MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200018 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mixed phenotype acute leukemia +MONDO:0019470 aggressive NK-cell leukemia NANDO:2200012 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp NK cell leukemia +MONDO:0019472 extranodal nasal NK/T cell lymphoma NANDO:2200027 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Extranodal NK/T-cell lymphoma, nasal type +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma NANDO:2200030 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sucutaneous panniculitis-like T-cell lymphoma +MONDO:0019480 Langerhans cell sarcoma NANDO:2200036 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Langerhans cell sarcoma +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome NANDO:1200596 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hemiconvulsion-hemiplegia-epilepsy syndrome +MONDO:0019487 epilepsy with myoclonic absences NANDO:1200589 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myoclonic absence epilepsy +MONDO:0019499 Turner syndrome NANDO:2200410 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Turner syndrome +MONDO:0019501 Usher syndrome NANDO:1200941 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Usher syndrome +MONDO:0019503 anterior segment dysgenesis NANDO:1201000 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anterior segment dysgenesis +MONDO:0019532 autoimmune hemolytic anemia, warm type NANDO:1200306 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Warm antibody hemolytic anemia +MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:1200308 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Paroxysmal cold hemoglobinuria +MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:2200619 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Paroxysmal cold hemoglobinuria +MONDO:0019534 mixed-type autoimmune hemolytic anemia NANDO:1200309 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mixed-type autoimmune hemolytic anemia +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome NANDO:2200640 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Shiga toxin-producing escherichia coli hemolytic uremic syndrome +MONDO:0019563 CREST syndrome NANDO:1201011 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Limited cutaneous systemic sclerosis +MONDO:0019600 xeroderma pigmentosum NANDO:1200608 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Xeroderma pigmentosum +MONDO:0019600 xeroderma pigmentosum NANDO:2100286 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Xeroderma pigmentosum +MONDO:0019600 xeroderma pigmentosum NANDO:2201002 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Xeroderma pigmentosum +MONDO:0019607 unspecified juvenile idiopathic arthritis NANDO:2201061 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Unclassifiable Juvenile idiopathic arthritis +MONDO:0019609 Zellweger spectrum disorders NANDO:1200760 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Zellweger syndrome +MONDO:0019611 TSH-secreting pituitary adenoma NANDO:1200377 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome +MONDO:0019622 non-specific interstitial pneumonia NANDO:1200419 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Non-specific interstitial pneumonia +MONDO:0019623 hereditary angioedema NANDO:1200365 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary angioedema +MONDO:0019623 hereditary angioedema NANDO:2200795 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary angioedema +MONDO:0019637 renal hypoplasia NANDO:2200155 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypoplastic kidney +MONDO:0019638 renal dysplasia NANDO:2200161 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Renal dysplasia +MONDO:0019639 congenital megacalycosis NANDO:2200177 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Megacalycosis +MONDO:0019642 vitamin D-dependent rickets, type 2 NANDO:1200783 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-dependent rickets, type 2 +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis NANDO:2200111 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Diffuse mesangial sclerosis +MONDO:0019669 hypochondrogenesis NANDO:2201346 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hypochondrogenesis +MONDO:0019701 chondrodysplasia punctata NANDO:2201017 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chondrodysplasia punctata +MONDO:0019731 AApoAI amyloidosis NANDO:1201062 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial amyloid polyneuropathy type 3 +MONDO:0019734 juvenile polymyositis NANDO:2200419 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Juvenile polymyositis +MONDO:0019736 dense deposit disease NANDO:1200739 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary membranoproliferative glomerulonephritis type II +MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200318 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired idiopathic thrombotic thrombocytopenic purpura +MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200319 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Secondary thrombotic thrombocytopenic purpura +MONDO:0019751 autoinflammatory syndrome NANDO:2100156 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoinflammatory disease +MONDO:0019773 myelomeningocele NANDO:1200509 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelomeningocele +MONDO:0019773 myelomeningocele NANDO:2100215 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelomeningocele +MONDO:0019773 myelomeningocele NANDO:2200814 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelomeningocele +MONDO:0019787 autoimmune enteropathy NANDO:2200923 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune enteropathy +MONDO:0019799 hepatoerythropoietic porphyria NANDO:1200819 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatoerythropoietic porphyria +MONDO:0019799 hepatoerythropoietic porphyria NANDO:2201270 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatoerythropoietic porphyria +MONDO:0019804 tracheomalacia NANDO:2200195 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tracheomalacia +MONDO:0019810 toxic epidermal necrolysis NANDO:1200246 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Toxic epidermal necrolysis +MONDO:0019810 toxic epidermal necrolysis NANDO:2201007 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Toxic epidermal necrolysis +MONDO:0019813 congenital tricuspid stenosis NANDO:1200962 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital tricuspid stenosis +MONDO:0019832 acquired pituitary hormone deficiency NANDO:2200313 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired hypopituitarism +MONDO:0019854 thyroid ectopia NANDO:2200330 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ectoic thyroid +MONDO:0019855 athyreosis NANDO:2200331 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thyroid agenesis +MONDO:0019933 acromegaly NANDO:2100112 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acromegaly +MONDO:0019933 acromegaly NANDO:2200315 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acromegaly +MONDO:0019948 reducing body myopathy NANDO:2200875 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Reducing body myopathy +MONDO:0019952 congenital myopathy NANDO:1200477 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital myopathy +MONDO:0019952 congenital myopathy NANDO:2100234 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital myopathy +MONDO:0019959 glucagonoma NANDO:2100142 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glucagonoma +MONDO:0019959 glucagonoma NANDO:2200397 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glucagonoma +MONDO:0019960 VIPoma NANDO:2200394 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vipoma +MONDO:0019983 multiloculated renal cyst NANDO:2200171 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multilocular cysts of the kidney +MONDO:0019992 pseudohypoparathyroidism NANDO:1200776 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoparathyroidism +MONDO:0019992 pseudohypoparathyroidism NANDO:2100126 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoparathyroidism +MONDO:0019992 pseudohypoparathyroidism NANDO:2200349 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudohypoparathyroidism +MONDO:0020007 absence of the pulmonary artery NANDO:2200282 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Unilateral absence of a pulmonary artery +MONDO:0020022 central nervous system malformation NANDO:2200118 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Central nervous system malformation syndrome +MONDO:0020040 46,XY disorder of sex development NANDO:2200393 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Disorders of sex development of 46,XX +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development NANDO:2200393 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Disorders of sex development of 46,XX +MONDO:0020064 pulmonary valve agenesis NANDO:2100095 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Absent pulmonary valve +MONDO:0020064 pulmonary valve agenesis NANDO:2200280 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Absent pulmonary valve +MONDO:0020066 Ehlers-Danlos syndrome NANDO:1200645 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos Syndrome +MONDO:0020066 Ehlers-Danlos syndrome NANDO:2200607 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome +MONDO:0020074 progressive myoclonus epilepsy NANDO:1200953 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive myoclonus epilepsy +MONDO:0020074 progressive myoclonus epilepsy NANDO:2100237 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Progressive myoclonus epilepsy +MONDO:0020088 familial partial lipodystrophy NANDO:1200861 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial partial lipodystrophy +MONDO:0020099 inherited sideroblastic anemia NANDO:1200892 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary sideroblastic anemia +MONDO:0020102 hereditary stomatocytosis NANDO:2200623 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary stomatocytosis +MONDO:0020108 autoimmune hemolytic anemia NANDO:1200305 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune hemolytic anemia +MONDO:0020108 autoimmune hemolytic anemia NANDO:2100181 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune hemolytic anemia +MONDO:0020121 muscular dystrophy NANDO:1200486 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Muscular dystrophy +MONDO:0020121 muscular dystrophy NANDO:2100233 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Muscular dystrophy +MONDO:0020242 hereditary macular dystrophy NANDO:1200931 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Macular dystrophy +MONDO:0020311 chronic myelomonocytic leukemia NANDO:2200014 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic myelomonocytic leukemia +MONDO:0020320 acute myeloblastic leukemia with maturation NANDO:2200006 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute myeloid leukemia with maturation +MONDO:0020321 acute undifferentiated leukemia NANDO:2200017 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acute undifferentiated leukemia +MONDO:0020325 anaplastic large cell lymphoma NANDO:2200021 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anaplastic large cell lymphoma +MONDO:0020337 congenital dyserythropoietic anemia type 1 NANDO:1200886 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital dyserythropoietic anemia type I +MONDO:0020338 adult pure red cell aplasia NANDO:1200889 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired pure red cell aplasia +MONDO:0020338 adult pure red cell aplasia NANDO:2200613 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired pure red cell aplasia +MONDO:0020341 periventricular nodular heterotopia NANDO:1201079 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Periventricular nodular heterotopia +MONDO:0020352 multiple system atrophy, parkinsonian type NANDO:1200036 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Multiple system atrophy, Parkinsonian type +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation NANDO:1200703 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Complete transposition of the great arteries (Group4) +MONDO:0020391 pulmonary artery coming from the aorta NANDO:2200281 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Origin of pulmonary artery from ascending aorta +MONDO:0020398 congenital mitral stenosis NANDO:1200963 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital mitral stenosis +MONDO:0020400 congenital supravalvular mitral ring NANDO:2200308 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Supramitral ring +MONDO:0020413 encircling double aortic arch NANDO:2200290 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Double aortic arch disease +MONDO:0020428 congenital Gerbode defect NANDO:2100090 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Left ventricular-right atrial communication +MONDO:0020428 congenital Gerbode defect NANDO:2200274 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Left ventricular-right atrial communication +MONDO:0020434 atrial septal defect, ostium secundum type NANDO:2200266 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atrial septal defect, ostium secundum type +MONDO:0020436 atrial septal defect, sinus venosus type NANDO:2200267 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atrial septal defect, sinus venosus type +MONDO:0020439 patent foramen ovale NANDO:2200266 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atrial septal defect, ostium secundum type +MONDO:0020453 congenital partial pulmonary venous return anomaly NANDO:2200272 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Partial anomalous pulmonary venous connection +MONDO:0020459 unstable hemoglobin disease NANDO:2200625 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Unstable hemoglobin disease +MONDO:0020460 acquired von willebrand syndrome NANDO:1200899 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired von Willebrand disease +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis NANDO:1200588 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis +MONDO:0020479 pituitary gigantism NANDO:2100111 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pituitary gigantism +MONDO:0020479 pituitary gigantism NANDO:2200314 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pituitary gigantism +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 NANDO:2200365 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aldosterone synthase deficiency +MONDO:0020491 subcortical band heterotopia NANDO:1201070 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Subcortical band heterotopia +MONDO:0020492 hemimegalencephaly NANDO:1200563 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hemimegalencephaly +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200001 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp B-cell precursor lymphoblastic leukemia +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200022 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Precursor B lymphoblastic lymphoma +MONDO:0020547 chronic graft versus host disease NANDO:2100213 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic graft-versus-host disease +MONDO:0020547 chronic graft versus host disease NANDO:2200812 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic graft-versus-host disease +MONDO:0020560 atypical teratoid rhabdoid tumor NANDO:2200101 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Atypical teratoid, rhabdoid tumour +MONDO:0020586 factor V deficiency NANDO:2200674 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor V deficiency +MONDO:0020587 factor XI deficiency NANDO:2200679 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Factor XI deficiency +MONDO:0020599 acquired coagulation factor deficiency NANDO:1200896 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune acquired coagulation factor deficiency +MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:1200630 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Conradi Hünermann Happle syndrome +MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:2201357 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type +MONDO:0020640 autoimmune encephalitis NANDO:2100248 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune encephalitis +MONDO:0020640 autoimmune encephalitis NANDO:2200902 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune encephalitis +MONDO:0020642 polycystic kidney disease NANDO:1200367 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polycystic kidney disease +MONDO:0020642 polycystic kidney disease NANDO:2200152 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Polycystic kidney disease +MONDO:0020690 adult glioblastoma NANDO:2200087 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Glioblastoma +MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:1200611 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal dominant epidermolytic ichthyosis +MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:2200988 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal dominant epidermolytic ichthyosis +MONDO:0020743 mixed phenotype acute leukemia NANDO:2200018 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mixed phenotype acute leukemia +MONDO:0020793 oculopharyngodistal myopathy 1 NANDO:1200219 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oculopharyngodistal myopathy +MONDO:0020803 obsolete bundle branch block NANDO:2100046 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bundle branch block +MONDO:0020803 obsolete bundle branch block NANDO:2200215 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Bundle branch block +MONDO:0021055 classic familial adenomatous polyposis NANDO:2200915 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial adenomatous polyposis +MONDO:0021061 neurofibromatosis NANDO:1200225 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurofibromatosis +MONDO:0021061 neurofibromatosis NANDO:1200226 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurofibromatosis type 1 +MONDO:0021061 neurofibromatosis NANDO:1200227 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurofibromatosis type 2 +MONDO:0021061 neurofibromatosis NANDO:2201003 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp von Recklinghausen's disease +MONDO:0021081 anti-NMDA receptor encephalitis NANDO:2201317 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Anti-NMDA receptor encephalitis +MONDO:0021094 immunodeficiency disease NANDO:2100204 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Immunodeficiency +MONDO:0021133 acquired factor XIII deficiency NANDO:1200897 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autoimmune hemorrhaphilia XIII/13 +MONDO:0021134 acquired factor X deficiency NANDO:1201048 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Acquired factor X inhibitor +MONDO:0021209 heart neoplasm NANDO:2100061 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cardiac tumor +MONDO:0021209 heart neoplasm NANDO:2200236 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Cardiac tumor +MONDO:0021902 aortopulmonary window NANDO:2100082 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aorto-pulmonary window +MONDO:0021902 aortopulmonary window NANDO:2200262 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aorto-pulmonary window +MONDO:0021915 arakawa syndrome 2 NANDO:2201111 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Methylcobalamin deficiency cblG type +MONDO:0021969 Banti syndrome NANDO:1200438 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Idiopathic portal hypertension +MONDO:0022205 pustular psoriasis NANDO:1200240 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pustular psoriasis +MONDO:0022205 pustular psoriasis NANDO:2100285 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pustular psoriasis +MONDO:0022205 pustular psoriasis NANDO:2201001 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pustular psoriasis +MONDO:0022308 corticobasal degeneration disorder NANDO:1200011 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Corticobasal degeneration +MONDO:0022402 agyria-pachygyria type 1 NANDO:1201068 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Agyria +MONDO:0022402 agyria-pachygyria type 1 NANDO:1201069 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pachygyria +MONDO:0022424 alpha-mannosidosis type 1 NANDO:1200127 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-mannosidosis, infantile form +MONDO:0022424 alpha-mannosidosis type 1 NANDO:2201188 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Alpha-mannosidosis, infantile form +MONDO:0022800 type 2 collagenopathy NANDO:2201016 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Type II collagenopathy +MONDO:0022858 continuous spike-wave during slow sleep syndrome NANDO:1200601 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epileptic encephalopathy with continuous spike-and-wave during sleep +MONDO:0022880 obsolete corticobasal degeneration NANDO:1200011 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Corticobasal degeneration +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation NANDO:1200841 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hepatic glycogen storage disease type Ib +MONDO:0023419 hyperprolinemia NANDO:2200471 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hyperprolinemia +MONDO:0024291 vascular malformation NANDO:2100295 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vascular malformation +MONDO:0024299 vitamin D-dependent rickets NANDO:1200781 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-dependent rickets / Osteomalacia +MONDO:0024299 vitamin D-dependent rickets NANDO:2100144 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-dependent rickets +MONDO:0024299 vitamin D-dependent rickets NANDO:2200401 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-dependent rickets +MONDO:0024300 hypophosphatemic rickets NANDO:1200778 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia +MONDO:0024300 hypophosphatemic rickets NANDO:1200780 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-resistant osteomalacia +MONDO:0024300 hypophosphatemic rickets NANDO:2200402 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Vitamin D-resistant osteomalacia +MONDO:0024300 hypophosphatemic rickets NANDO:2200403 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Primary hypophosphatemic rickets +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) NANDO:1200643 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Pseudoxanthoma elasticum +MONDO:0024327 chronic renal failure syndrome NANDO:2100023 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Chronic renal failure +MONDO:0024457 neurodegeneration with brain iron accumulation 2A NANDO:1200537 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurodegeneration with brain iron accumulation type 2A +MONDO:0024536 glucocorticoid deficiency 1 NANDO:1200408 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp MC2R deficiency +MONDO:0024538 basal ganglia calcification, idiopathic, 1 NANDO:1200208 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial idiopathic basal ganglia calcification +MONDO:0024574 von Willebrand disease (hereditary or acquired) NANDO:2200682 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Von Willebrand disease +MONDO:0024623 otorhinolaryngologic disease NANDO:1100015 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Otorhinolaryngological disease +MONDO:0024644 myocardial ischemia NANDO:2100070 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ischemic heart disease +MONDO:0024677 pancreatic insulinoma NANDO:2200398 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Insulinoma +MONDO:0024746 immature teratoma NANDO:2200106 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Immature teratoma +MONDO:0025193 oculopharyngodistal myopathy NANDO:1200219 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Oculopharyngodistal myopathy +MONDO:0028737 obsolete biliary atresia disorder NANDO:1200913 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Biliary atresia +MONDO:0028737 obsolete biliary atresia disorder NANDO:2200930 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp biliary atresia +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:1200649 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:2201259 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease NANDO:1200193 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Iatrogenic Creutzfeldt-Jakob disease +MONDO:0037792 carbohydrate metabolism disease NANDO:2100164 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Disorder of carbohydrate metabolism +MONDO:0037858 inherited fatty acid metabolism disorder NANDO:2100162 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Disorder of fatty-acid metabolism +MONDO:0037871 amino acid metabolism disease NANDO:2100160 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Disorder of amino acid metabolism +MONDO:0037939 porphyria NANDO:1200811 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Porphyria +MONDO:0042727 sacrococcygeal teratoma NANDO:2100216 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sacrococcygeal teratoma +MONDO:0042727 sacrococcygeal teratoma NANDO:2200816 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Sacrococcygeal teratoma +MONDO:0042727 sacrococcygeal teratoma NANDO:2201287 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Altman type IV sacrococcygeal teratoma +MONDO:0042981 aortic valve stenosis NANDO:2200306 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Aortic valve stenosis +MONDO:0042983 neurocutaneous syndrome NANDO:2100220 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Neurocutaneous syndrome +MONDO:0043094 ichthyosis, follicular NANDO:1200628 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ichthyosis follicularis +MONDO:0043152 negative rheumatoid factor polyarthritis NANDO:2201057 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rheumatoid factor-negative juvenile idiopathic arthritis +MONDO:0043267 rheumatoid vasculitis NANDO:1200265 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rheumatoid vasculitis +MONDO:0043317 amyopathic dermatomyositis NANDO:1200275 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Amyopathic dermatomyositis +MONDO:0043472 ectopic ACTH secretion syndrome NANDO:2200351 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ectopic ACTH syndrome +MONDO:0043768 thrombocytopenic purpura NANDO:2100188 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Thrombocytopenic purpura +MONDO:0044354 obsolete Rosai-Dorfman disease NANDO:2200039 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Rosai-Dorfman disease +MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:1200612 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal recessive epidermolytic ichthyosis +MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:2200989 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Autosomal recessive epidermolytic ichthyosis +MONDO:0044744 prekallikrein deficiency NANDO:2200684 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Congenital prekallikrein deficiency +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma NANDO:1201067 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nodular lymphocyte predominance Hodgkin lymphoma +MONDO:0044807 inherited dystonia NANDO:1200511 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Hereditary dystonia +MONDO:0044808 obsolete early onset primary dystonia NANDO:1200512 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dystonia 1 +MONDO:0044873 childhood myelodysplastic syndrome NANDO:2100003 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelodysplastic syndrome +MONDO:0044873 childhood myelodysplastic syndrome NANDO:2200019 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelodysplastic syndrome +MONDO:0044903 myelofibrosis NANDO:2100200 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelofibrosis +MONDO:0044903 myelofibrosis NANDO:2200692 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Myelofibrosis +MONDO:0044917 T-lymphoblastic lymphoma NANDO:2200023 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Precursor T lymphoblastic lymphoma +MONDO:0044970 mitochondrial disease NANDO:1200173 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial diseases +MONDO:0044970 mitochondrial disease NANDO:2100163 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial diseases +MONDO:0045022 disorder of organic acid metabolism NANDO:2100161 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Disorder of organic acid metabolism +MONDO:0045045 selective IgG immunodeficiency NANDO:1200346 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp IgG subclass deficiency +MONDO:0100025 epilepsy of infancy with migrating focal seizures NANDO:1200595 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Epilepsy of infancy with migrating focal seizures +MONDO:0100062 developmental and epileptic encephalopathy NANDO:1200593 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ohtahara syndrome +MONDO:0100064 tyrosine hydroxylase deficiency NANDO:2200595 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Tyrosine hydroxylase deficiency +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 NANDO:2200662 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Familial platelet disorder with propensity to myeloid. +MONDO:0100133 mitochondrial complex I deficiency NANDO:1200180 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial complex I deficiency +MONDO:0100135 Dravet syndrome NANDO:1200587 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Dravet syndrome +MONDO:0100135 Dravet syndrome NANDO:2200877 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Severe myoclonic epilepsy in infancy +MONDO:0100151 nephropathic cystinosis NANDO:1200162 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephropathic cystinosis +MONDO:0100151 nephropathic cystinosis NANDO:2201234 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Nephropathic cystinosis +MONDO:0100189 apolipoprotein A-I deficiency NANDO:2200605 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp HDL deficiency +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive NANDO:2200737 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp STAT5b deficiency +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome NANDO:2200999 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Ichthyosis-follicularis-atrichia-photophobia syndrome +MONDO:0100222 A20 haploinsufficiency NANDO:1200997 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp A20 haploinsufficiency +MONDO:0100222 A20 haploinsufficiency NANDO:2200458 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp A20 haploinsufficiency +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 NANDO:1200180 MONDO:equivalentTo orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 http://nanbyodata.jp Mitochondrial complex I deficiency diff --git a/src/scripts/sssom_to_robot_template.py b/src/scripts/sssom_to_robot_template.py index 04ad4f12..78717989 100644 --- a/src/scripts/sssom_to_robot_template.py +++ b/src/scripts/sssom_to_robot_template.py @@ -11,9 +11,15 @@ 'subject_id': 'ID', 'subject_label': '', 'object_id': 'A oboInOwl:hasDbXref', - 'object_label': '', 'equivalence': '>A oboInOwl:source', 'author_id': '>A oboInOwl:source SPLIT=|', + 'mapping_provider': '>A oboInOwl:source', + 'object_label': '', +} +PRED_MAP = { + 'skos:relatedMatch': 'MONDO:relatedTo', + 'skos:exactMatch': 'MONDO:equivalentTo', + 'skos:broadMatch': 'MONDO:mondoIsNarrowerThanSource', } @@ -22,13 +28,12 @@ def sssom_to_robot_template(inpath: Union[str, Path], outpath: Union[str, Path]) msdf: MappingSetDataFrame = parse_sssom_table(inpath) df: pd.DataFrame = msdf.df - # Filter - df = df[df['predicate_id'] == 'skos:exactMatch'] - # Conversion - df = df[['subject_id', 'subject_label', 'object_id', 'object_label']].sort_values(['subject_id', 'object_id']) - df['equivalence'] = 'MONDO:equivalentTo' + df['equivalence'] = df['predicate_id'].map(lambda pred: PRED_MAP.get(pred, '')) + df = df[['subject_id', 'subject_label', 'object_id', 'equivalence', 'object_label']]\ + .sort_values(['subject_id', 'object_id']) df['author_id'] = '|'.join(msdf.metadata['creator_id']) + df['mapping_provider'] = msdf.metadata['mapping_provider'] df = pd.concat([pd.DataFrame([ROBOT_ROW]), df]) # Write From 49eb47c08691b0ff477f12051c105388dce22af2 Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Sun, 19 May 2024 18:50:12 -0400 Subject: [PATCH 11/14] Update goal $(MAPPINGSDIR)/%.sssom.tsv: Changed make to $(MAKE) for consistency --- src/ontology/mondo-ingest.Makefile | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 15c91563..b14def7f 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -184,7 +184,7 @@ $(TMPDIR)/component-%.json: $(COMPONENTSDIR)/%.owl .PRECIOUS: $(TMPDIR)/component-%.json $(MAPPINGSDIR)/%.sssom.tsv: - make $(TMPDIR)/component-$*.json metadata/mondo.sssom.config.yml + $(MAKE) $(TMPDIR)/component-$*.json metadata/mondo.sssom.config.yml sssom parse $(TMPDIR)/component-$*.json -I obographs-json --prefix-map-mode merged -m metadata/mondo.sssom.config.yml -o $@ sssom sort $@ -o $@ From 2afba0371edc1c8a66654ae601f88d159705da04 Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Sun, 19 May 2024 18:52:11 -0400 Subject: [PATCH 12/14] Update sssom_to_robot_template Corrected a robot subheader Co-authored-by: Nico Matentzoglu --- src/scripts/sssom_to_robot_template.py | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/scripts/sssom_to_robot_template.py b/src/scripts/sssom_to_robot_template.py index 78717989..8a0fd622 100644 --- a/src/scripts/sssom_to_robot_template.py +++ b/src/scripts/sssom_to_robot_template.py @@ -12,7 +12,7 @@ 'subject_label': '', 'object_id': 'A oboInOwl:hasDbXref', 'equivalence': '>A oboInOwl:source', - 'author_id': '>A oboInOwl:source SPLIT=|', + 'author_id': '>AI oboInOwl:source SPLIT=|', 'mapping_provider': '>A oboInOwl:source', 'object_label': '', } From 09d3f44aef4d7b0c1ce9889567af2d92e4bd0c30 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 31 May 2024 11:31:49 +0300 Subject: [PATCH 13/14] Update nando-mondo.sssom.tsv --- src/mappings/nando-mondo.sssom.tsv | 4690 ++++++++++++++-------------- 1 file changed, 2345 insertions(+), 2345 deletions(-) diff --git a/src/mappings/nando-mondo.sssom.tsv b/src/mappings/nando-mondo.sssom.tsv index 505a746d..80fce8c4 100644 --- a/src/mappings/nando-mondo.sssom.tsv +++ b/src/mappings/nando-mondo.sssom.tsv @@ -10,2348 +10,2348 @@ #mapping_set_description: "This mapping set is manually curated by the NANDO team at nanbyodata.jp." #mapping_provider: "http://nanbyodata.jp" subject_id subject_label predicate_id object_id object_label mapping_justification -NANDO:1100001 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration -NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0004955 obsolete metabolic syndrome semapv:ManualMappingCuration -NANDO:1100002 Metabolic disease skos:exactMatch MONDO:0005066 metabolic disease semapv:ManualMappingCuration -NANDO:1100004 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration -NANDO:1100005 Cardiovascular disease skos:exactMatch MONDO:0004995 cardiovascular disorder semapv:ManualMappingCuration -NANDO:1100006 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration -NANDO:1100009 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration -NANDO:1100010 Respiratory disease skos:exactMatch MONDO:0005087 respiratory system disorder semapv:ManualMappingCuration -NANDO:1100013 Gastrointestinal disease skos:exactMatch MONDO:0004335 digestive system disorder semapv:ManualMappingCuration -NANDO:1100014 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration -NANDO:1100015 Otorhinolaryngological disease skos:exactMatch MONDO:0024623 otorhinolaryngologic disease semapv:ManualMappingCuration -NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0010735 Kennedy disease semapv:ManualMappingCuration -NANDO:1200001 Spinal and bulbar muscular atrophy skos:exactMatch MONDO:0016113 bulbospinal muscular atrophy semapv:ManualMappingCuration -NANDO:1200002 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:ManualMappingCuration -NANDO:1200003 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration -NANDO:1200004 Spinal muscular atrophy type I skos:exactMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:ManualMappingCuration -NANDO:1200005 Spinal muscular atrophy type II skos:exactMatch MONDO:0009673 spinal muscular atrophy, type II semapv:ManualMappingCuration -NANDO:1200006 Spinal muscular atrophy type III skos:exactMatch MONDO:0009672 spinal muscular atrophy, type III semapv:ManualMappingCuration -NANDO:1200007 Spinal muscular atrophy type IV skos:exactMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:ManualMappingCuration -NANDO:1200008 Primary lateral sclerosis skos:exactMatch MONDO:0018155 lateral sclerosis semapv:ManualMappingCuration -NANDO:1200009 Progressive supranuclear palsy skos:exactMatch MONDO:0019037 progressive supranuclear palsy semapv:ManualMappingCuration -NANDO:1200010 Parkinson's disease skos:exactMatch MONDO:0005180 Parkinson disease semapv:ManualMappingCuration -NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022308 corticobasal degeneration disorder semapv:ManualMappingCuration -NANDO:1200011 Corticobasal degeneration skos:exactMatch MONDO:0022880 obsolete corticobasal degeneration semapv:ManualMappingCuration -NANDO:1200012 Huntington's disease skos:exactMatch MONDO:0007739 Huntington disease semapv:ManualMappingCuration -NANDO:1200013 Neuroacanthocytosis skos:exactMatch MONDO:0016987 neuroacanthocytosis semapv:ManualMappingCuration -NANDO:1200014 Chorea-acanthocytosis skos:exactMatch MONDO:0008695 chorea-acanthocytosis semapv:ManualMappingCuration -NANDO:1200015 McLeod syndrome skos:exactMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:ManualMappingCuration -NANDO:1200016 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration -NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:exactMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:ManualMappingCuration -NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:exactMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:ManualMappingCuration -NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:exactMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:ManualMappingCuration -NANDO:1200020 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration -NANDO:1200021 Congenital myasthenic syndrome skos:exactMatch MONDO:0018940 congenital myasthenic syndrome semapv:ManualMappingCuration -NANDO:1200023 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration -NANDO:1200024 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration -NANDO:1200025 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration -NANDO:1200026 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration -NANDO:1200027 Neuromyelitis optica spectrum disorders skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration -NANDO:1200028 Baló concentric sclerosis skos:exactMatch MONDO:0016430 Balo concentric sclerosis semapv:ManualMappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration -NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration -NANDO:1200031 Multifocal motor neuropathy skos:exactMatch MONDO:0018979 multifocal motor neuropathy semapv:ManualMappingCuration -NANDO:1200032 Sporadic inclusion body myositis skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration -NANDO:1200033 Crow-Fukase syndrome skos:exactMatch MONDO:0017364 POEMS syndrome semapv:ManualMappingCuration -NANDO:1200034 Multiple system atrophy skos:exactMatch MONDO:0007803 multiple system atrophy semapv:ManualMappingCuration -NANDO:1200035 Multiple system atrophy, cerebellar type skos:exactMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:ManualMappingCuration -NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:exactMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:ManualMappingCuration -NANDO:1200037 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration -NANDO:1200041 Spinocerebellar ataxia type 3 skos:exactMatch MONDO:0007182 Machado-Joseph disease semapv:ManualMappingCuration -NANDO:1200042 Spinocerebellar ataxia type 6 skos:exactMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:ManualMappingCuration -NANDO:1200043 Dentatorubropallidoluysian atrophy skos:exactMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:ManualMappingCuration -NANDO:1200044 Spinocerebellar ataxia type 31 skos:exactMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:ManualMappingCuration -NANDO:1200045 Spinocerebellar ataxia type 1 skos:exactMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:ManualMappingCuration -NANDO:1200046 Spinocerebellar ataxia type 2 skos:exactMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:ManualMappingCuration -NANDO:1200047 Spinocerebellar ataxia type 7 skos:exactMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:ManualMappingCuration -NANDO:1200048 Spinocerebellar ataxia type 36 skos:exactMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:ManualMappingCuration -NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:exactMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:ManualMappingCuration -NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:exactMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualMappingCuration -NANDO:1200052 Hereditary spastic paraplegia skos:exactMatch MONDO:0019064 hereditary spastic paraplegia semapv:ManualMappingCuration -NANDO:1200053 Pure hereditary spastic paraplegia skos:exactMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:ManualMappingCuration -NANDO:1200054 Complex hereditary spastic paraplegia skos:exactMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:ManualMappingCuration -NANDO:1200055 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration -NANDO:1200056 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration -NANDO:1200057 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration -NANDO:1200058 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration -NANDO:1200059 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration -NANDO:1200061 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration -NANDO:1200062 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration -NANDO:1200063 Niemann-Pick disease type C skos:exactMatch MONDO:0018982 Niemann-Pick disease type C semapv:ManualMappingCuration -NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration -NANDO:1200066 GM1 gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration -NANDO:1200067 Infantile GM1 gangliosidosis skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration -NANDO:1200068 Juvenile GM1 gangliosidosis skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration -NANDO:1200069 Adult GM1 gangliosidosis skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration -NANDO:1200070 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration -NANDO:1200071 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration -NANDO:1200072 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration -NANDO:1200073 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration -NANDO:1200074 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration -NANDO:1200075 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration -NANDO:1200077 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration -NANDO:1200078 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration -NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration -NANDO:1200082 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration -NANDO:1200083 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration -NANDO:1200086 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration -NANDO:1200094 Hurler syndrome skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration -NANDO:1200095 Scheie syndrome skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration -NANDO:1200096 Hurler-Scheie syndrome skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration -NANDO:1200097 Hunter syndrome skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration -NANDO:1200098 Hunter syndrome type A skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration -NANDO:1200099 Hunter syndrome type B skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration -NANDO:1200100 Sanfilippo disease skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration -NANDO:1200101 Sanfilippo disease type A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration -NANDO:1200102 Sanfilippo disease type B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration -NANDO:1200103 Sanfilippo disease type C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration -NANDO:1200104 Sanfilippo disease type D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration -NANDO:1200105 Morquio syndrome skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration -NANDO:1200106 Morquio syndrome type A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration -NANDO:1200107 Morquio syndrome type B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration -NANDO:1200108 Maroteaux-Lamy syndrome skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration -NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration -NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration -NANDO:1200111 Sly syndrome skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration -NANDO:1200115 Hyaluronidase deficiency skos:exactMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:ManualMappingCuration -NANDO:1200116 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration -NANDO:1200117 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration -NANDO:1200118 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration -NANDO:1200119 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration -NANDO:1200120 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration -NANDO:1200124 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration -NANDO:1200125 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration -NANDO:1200126 Alpha-mannosidosis skos:exactMatch MONDO:0009561 alpha-mannosidosis semapv:ManualMappingCuration -NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration -NANDO:1200127 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration -NANDO:1200128 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration -NANDO:1200129 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration -NANDO:1200130 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration -NANDO:1200133 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration -NANDO:1200134 Schindler disease skos:exactMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:ManualMappingCuration -NANDO:1200135 Schindler disease type I skos:exactMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:ManualMappingCuration -NANDO:1200136 Schindler disease type 2 skos:exactMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:ManualMappingCuration -NANDO:1200137 Schindler disease type 3 skos:exactMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:ManualMappingCuration -NANDO:1200138 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration -NANDO:1200139 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration -NANDO:1200142 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration -NANDO:1200143 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration -NANDO:1200144 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration -NANDO:1200145 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration -NANDO:1200146 Free sialic acid storage disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration -NANDO:1200147 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration -NANDO:1200148 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration -NANDO:1200149 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration -NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration -NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration -NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:1200157 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration -NANDO:1200161 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration -NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration -NANDO:1200162 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration -NANDO:1200163 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration -NANDO:1200164 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration -NANDO:1200165 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:1200168 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration -NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration -NANDO:1200173 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration -NANDO:1200175 Leigh's encephalomyelopathy skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration -NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration -NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration -NANDO:1200178 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration -NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100133 mitochondrial complex I deficiency semapv:ManualMappingCuration -NANDO:1200180 Mitochondrial complex I deficiency skos:exactMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:ManualMappingCuration -NANDO:1200181 Mitochondrial complex II deficiency skos:exactMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:ManualMappingCuration -NANDO:1200183 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration -NANDO:1200186 Prion disease skos:exactMatch MONDO:0005429 prion disease semapv:ManualMappingCuration -NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200188 Genetic prion diseases skos:exactMatch MONDO:0017234 inherited prion disease semapv:ManualMappingCuration -NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:ManualMappingCuration -NANDO:1200191 Fatal familial insomnia skos:exactMatch MONDO:0010808 fatal familial insomnia semapv:ManualMappingCuration -NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:exactMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:exactMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:exactMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:ManualMappingCuration -NANDO:1200195 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:1200196 Typical subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:1200205 Progressive multifocal leukoencephalopathy skos:exactMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:ManualMappingCuration -NANDO:1200206 HTLV-1-associated myelopathy skos:exactMatch MONDO:0008039 tropical spastic paraparesis semapv:ManualMappingCuration -NANDO:1200207 Idiopathic basal ganglia calcification skos:exactMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:ManualMappingCuration -NANDO:1200208 Familial idiopathic basal ganglia calcification skos:exactMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:ManualMappingCuration -NANDO:1200209 Systemic amyloidosis skos:exactMatch MONDO:0017816 primary systemic amyloidosis semapv:ManualMappingCuration -NANDO:1200211 Amyloid light-chain amyloidosis skos:exactMatch MONDO:0019438 AL amyloidosis semapv:ManualMappingCuration -NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:exactMatch MONDO:0018018 wild type ATTR amyloidosis semapv:ManualMappingCuration -NANDO:1200214 Familial amyloid polyneuropathy skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration -NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration -NANDO:1200215 Ullrich disease skos:exactMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:ManualMappingCuration -NANDO:1200216 Distal myopathy skos:exactMatch MONDO:0018949 distal myopathy semapv:ManualMappingCuration -NANDO:1200217 Miyoshi myopathy skos:exactMatch MONDO:0009685 Miyoshi myopathy semapv:ManualMappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0011603 GNE myopathy semapv:ManualMappingCuration -NANDO:1200218 Distal myopathy with rimmed vacuoles skos:exactMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:ManualMappingCuration -NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:ManualMappingCuration -NANDO:1200219 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 oculopharyngodistal myopathy semapv:ManualMappingCuration -NANDO:1200220 Bethlem Myopathy skos:exactMatch MONDO:0008029 Bethlem myopathy semapv:ManualMappingCuration -NANDO:1200222 Danon disease skos:exactMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration -NANDO:1200223 X-linked Myopathy with excessive autophagy skos:exactMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:ManualMappingCuration -NANDO:1200224 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration -NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration -NANDO:1200225 Neurofibromatosis skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration -NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration -NANDO:1200226 Neurofibromatosis type 1 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration -NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0007039 neurofibromatosis type 2 semapv:ManualMappingCuration -NANDO:1200227 Neurofibromatosis type 2 skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration -NANDO:1200228 Pemphigus skos:exactMatch MONDO:0006594 pemphigus semapv:ManualMappingCuration -NANDO:1200229 Pemphigus vulgaris skos:exactMatch MONDO:0008219 pemphigus vulgaris semapv:ManualMappingCuration -NANDO:1200230 Pemphigus foliaceus skos:exactMatch MONDO:0019324 pemphigus foliaceus semapv:ManualMappingCuration -NANDO:1200231 Paraneoplastic pemphigus skos:exactMatch MONDO:0018974 paraneoplastic pemphigus semapv:ManualMappingCuration -NANDO:1200232 Pemphigus vegetans skos:exactMatch MONDO:0019322 pemphigus vegetans semapv:ManualMappingCuration -NANDO:1200233 Pemphigus erythematosus skos:exactMatch MONDO:0019323 pemphigus erythematosus semapv:ManualMappingCuration -NANDO:1200234 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration -NANDO:1200235 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration -NANDO:1200236 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration -NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration -NANDO:1200239 Kindler syndrome skos:exactMatch MONDO:0008260 Kindler syndrome semapv:ManualMappingCuration -NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:ManualMappingCuration -NANDO:1200240 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration -NANDO:1200243 Impetigo herpetiformis skos:exactMatch MONDO:0004591 impetigo herpetiformis semapv:ManualMappingCuration -NANDO:1200244 Acrodermatitis continua of Hallopeau skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration -NANDO:1200245 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration -NANDO:1200246 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration -NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualMappingCuration -NANDO:1200251 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration -NANDO:1200258 Giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration -NANDO:1200259 Cranial giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration -NANDO:1200260 Large-vessel giant cell arteritis skos:exactMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration -NANDO:1200261 Polyarteritis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration -NANDO:1200262 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration -NANDO:1200263 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:1200265 Rheumatoid vasculitis skos:exactMatch MONDO:0043267 rheumatoid vasculitis semapv:ManualMappingCuration -NANDO:1200266 Buerger's disease skos:exactMatch MONDO:0008889 thromboangiitis obliterans semapv:ManualMappingCuration -NANDO:1200267 Primary antiphospholipid antibody syndrome skos:exactMatch MONDO:0005204 primary antiphospholipid syndrome semapv:ManualMappingCuration -NANDO:1200270 Catastrophic antiphospholipid syndrome skos:exactMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:ManualMappingCuration -NANDO:1200271 Antiphospholipid antibody-related disease skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration -NANDO:1200272 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration -NANDO:1200274 Dermatomyositis skos:exactMatch MONDO:0016367 dermatomyositis semapv:ManualMappingCuration -NANDO:1200275 Amyopathic dermatomyositis skos:exactMatch MONDO:0043317 amyopathic dermatomyositis semapv:ManualMappingCuration -NANDO:1200276 Polymyositis skos:exactMatch MONDO:0019127 polymyositis semapv:ManualMappingCuration -NANDO:1200277 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration -NANDO:1200278 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration -NANDO:1200279 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration -NANDO:1200280 Primary Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration -NANDO:1200282 Adult Still's disease skos:exactMatch MONDO:0019355 adult-onset Still disease semapv:ManualMappingCuration -NANDO:1200283 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration -NANDO:1200284 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration -NANDO:1200286 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:1200292 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:1200294 Secondary restrictive cardiomyopathy skos:exactMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:1200295 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration -NANDO:1200296 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration -NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration -NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration -NANDO:1200302 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration -NANDO:1200303 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration -NANDO:1200304 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration -NANDO:1200305 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration -NANDO:1200306 Warm antibody hemolytic anemia skos:exactMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:ManualMappingCuration -NANDO:1200307 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration -NANDO:1200308 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration -NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:exactMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:ManualMappingCuration -NANDO:1200310 Evans syndrome skos:exactMatch MONDO:0016030 Evans syndrome semapv:ManualMappingCuration -NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration -NANDO:1200315 Idiopathic thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200316 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:1200320 Primary immunodeficiency syndrome skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration -NANDO:1200321 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration -NANDO:1200322 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration -NANDO:1200323 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration -NANDO:1200324 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration -NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration -NANDO:1200326 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration -NANDO:1200327 Zap-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration -NANDO:1200328 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration -NANDO:1200329 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration -NANDO:1200330 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration -NANDO:1200331 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration -NANDO:1200332 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration -NANDO:1200333 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration -NANDO:1200334 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration -NANDO:1200336 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration -NANDO:1200337 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration -NANDO:1200338 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration -NANDO:1200339 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration -NANDO:1200340 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration -NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration -NANDO:1200342 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration -NANDO:1200343 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration -NANDO:1200344 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration -NANDO:1200345 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration -NANDO:1200346 IgG subclass deficiency skos:exactMatch MONDO:0045045 selective IgG immunodeficiency semapv:ManualMappingCuration -NANDO:1200347 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration -NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration -NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration -NANDO:1200350 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration -NANDO:1200351 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration -NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration -NANDO:1200353 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration -NANDO:1200354 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration -NANDO:1200355 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration -NANDO:1200356 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration -NANDO:1200357 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration -NANDO:1200358 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration -NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration -NANDO:1200361 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration -NANDO:1200362 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration -NANDO:1200363 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration -NANDO:1200364 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration -NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration -NANDO:1200365 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration -NANDO:1200366 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration -NANDO:1200367 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration -NANDO:1200368 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration -NANDO:1200369 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration -NANDO:1200371 Ossification of posterior longitudinal ligament skos:exactMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:ManualMappingCuration -NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:exactMatch MONDO:0005965 spinal stenosis semapv:ManualMappingCuration -NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:exactMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:ManualMappingCuration -NANDO:1200375 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration -NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration -NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:exactMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:ManualMappingCuration -NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:exactMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:ManualMappingCuration -NANDO:1200379 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration -NANDO:1200381 Central precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration -NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:exactMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualMappingCuration -NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:exactMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:ManualMappingCuration -NANDO:1200385 Growth hormone secreting pituitary adenoma skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration -NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:exactMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration -NANDO:1200387 Hypopituitarism syndrome skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration -NANDO:1200388 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration -NANDO:1200390 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration -NANDO:1200394 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration -NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration -NANDO:1200395 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration -NANDO:1200396 Congenital adrenal enzyme deficiency skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration -NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration -NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:1200399 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:1200400 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:1200401 17-α-Hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:1200402 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration -NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration -NANDO:1200403 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:1200404 DAX1 abnormality skos:exactMatch MONDO:0010226 46,XY sex reversal 2 semapv:ManualMappingCuration -NANDO:1200405 SF-1 abnormality skos:exactMatch MONDO:0013066 46,XY sex reversal 3 semapv:ManualMappingCuration -NANDO:1200406 IMAge syndrome skos:exactMatch MONDO:0013873 IMAGe syndrome semapv:ManualMappingCuration -NANDO:1200408 MC2R deficiency skos:exactMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:ManualMappingCuration -NANDO:1200409 MRAP deficiency skos:exactMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:ManualMappingCuration -NANDO:1200410 Allgrove syndrome skos:exactMatch MONDO:0009279 triple-A syndrome semapv:ManualMappingCuration -NANDO:1200411 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration -NANDO:1200411 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration -NANDO:1200412 Autoimmune Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration -NANDO:1200415 Sarcoidosis skos:exactMatch MONDO:0019338 sarcoidosis semapv:ManualMappingCuration -NANDO:1200416 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200417 Idiopathic pulmonary fibrosis skos:exactMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:ManualMappingCuration -NANDO:1200419 Non-specific interstitial pneumonia skos:exactMatch MONDO:0019622 non-specific interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200420 Acute interstitial pneumonia skos:exactMatch MONDO:0019203 acute interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200421 Cryptogenic organizing pneumonia skos:exactMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:ManualMappingCuration -NANDO:1200422 Desquamative interstitial pneumonia skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:exactMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200424 Lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:ManualMappingCuration -NANDO:1200425 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration -NANDO:1200427 Pulmonary veno-occlusive disease skos:exactMatch MONDO:0009937 pulmonary venoocclusive disease semapv:ManualMappingCuration -NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:exactMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:ManualMappingCuration -NANDO:1200430 Lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 lymphangioleiomyomatosis semapv:ManualMappingCuration -NANDO:1200431 Retinitis pigmentosa skos:exactMatch MONDO:0019200 retinitis pigmentosa semapv:ManualMappingCuration -NANDO:1200437 Budd-Chiari syndrome skos:exactMatch MONDO:0010947 Budd-Chiari syndrome semapv:ManualMappingCuration -NANDO:1200438 Idiopathic portal hypertension skos:exactMatch MONDO:0021969 Banti syndrome semapv:ManualMappingCuration -NANDO:1200439 Primary biliary cholangitis skos:exactMatch MONDO:0005388 primary biliary cholangitis semapv:ManualMappingCuration -NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration -NANDO:1200440 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration -NANDO:1200441 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration -NANDO:1200442 Typical autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration -NANDO:1200444 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration -NANDO:1200445 small bowel Crohn disease skos:exactMatch MONDO:0005539 small bowel Crohn disease semapv:ManualMappingCuration -NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration -NANDO:1200446 Colonic Crohn's disease skos:exactMatch MONDO:0005532 Crohn's colitis semapv:ManualMappingCuration -NANDO:1200447 Crohn ileocolitis skos:exactMatch MONDO:0005534 ileocolitis semapv:ManualMappingCuration -NANDO:1200449 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration -NANDO:1200450 Pan-ulcerative colitis skos:exactMatch MONDO:0005536 pancolitis semapv:ManualMappingCuration -NANDO:1200451 Left-sided colitis skos:exactMatch MONDO:0005533 distal colitis semapv:ManualMappingCuration -NANDO:1200454 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration -NANDO:1200456 Eosinophilic esophagitis skos:exactMatch MONDO:0005361 eosinophilic esophagitis semapv:ManualMappingCuration -NANDO:1200457 Eosinophilic gastroenteritis skos:exactMatch MONDO:0016129 eosinophilic gastroenteritis semapv:ManualMappingCuration -NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration -NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration -NANDO:1200460 Congenital isolated hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration -NANDO:1200461 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration -NANDO:1200462 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration -NANDO:1200463 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration -NANDO:1200464 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration -NANDO:1200465 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration -NANDO:1200466 Familial cold autoinflammatorysyndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:1200467 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration -NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration -NANDO:1200469 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:1200470 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration -NANDO:1200473 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration -NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration -NANDO:1200476 Blau syndrome skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration -NANDO:1200477 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration -NANDO:1200478 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration -NANDO:1200479 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration -NANDO:1200481 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration -NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration -NANDO:1200482 Centronuclear myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration -NANDO:1200483 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration -NANDO:1200485 Marinesco-Sjogren syndrome skos:exactMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:ManualMappingCuration -NANDO:1200486 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration -NANDO:1200487 Dystrophinopathies skos:exactMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:ManualMappingCuration -NANDO:1200488 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration -NANDO:1200489 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration -NANDO:1200490 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration -NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration -NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration -NANDO:1200493 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:ManualMappingCuration -NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration -NANDO:1200495 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration -NANDO:1200496 Non-dystrophic myotonia skos:exactMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:ManualMappingCuration -NANDO:1200497 Myotonia congenita skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration -NANDO:1200498 Thomsen disease skos:exactMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration -NANDO:1200499 Becker disease skos:exactMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:ManualMappingCuration -NANDO:1200500 Sodium channel myotonia skos:exactMatch MONDO:0018959 potassium-aggravated myotonia semapv:ManualMappingCuration -NANDO:1200501 Paramyotonia congenita skos:exactMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:ManualMappingCuration -NANDO:1200502 Hereditary periodic paralysis skos:exactMatch MONDO:0000995 familial periodic paralysis semapv:ManualMappingCuration -NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:exactMatch MONDO:0008223 hypokalemic periodic paralysis semapv:ManualMappingCuration -NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:exactMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:ManualMappingCuration -NANDO:1200506 Syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration -NANDO:1200507 Symptomatic syringomyelia skos:exactMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration -NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration -NANDO:1200509 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration -NANDO:1200510 Isaacs syndrome skos:exactMatch MONDO:0019399 Isaac syndrome semapv:ManualMappingCuration -NANDO:1200511 Hereditary dystonia skos:exactMatch MONDO:0044807 inherited dystonia semapv:ManualMappingCuration -NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration -NANDO:1200512 Dystonia 1 skos:exactMatch MONDO:0044808 obsolete early onset primary dystonia semapv:ManualMappingCuration -NANDO:1200513 Dystonia 2 skos:exactMatch MONDO:0009141 torsion dystonia 2 semapv:ManualMappingCuration -NANDO:1200514 Dystonia 3 skos:exactMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:ManualMappingCuration -NANDO:1200515 Dystonia 4 skos:exactMatch MONDO:0007493 torsion dystonia 4 semapv:ManualMappingCuration -NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0007495 dystonia 5 semapv:ManualMappingCuration -NANDO:1200516 Dystonia 5 skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration -NANDO:1200517 Dystonia 6 skos:exactMatch MONDO:0011264 torsion dystonia 6 semapv:ManualMappingCuration -NANDO:1200518 Dystonia 7 skos:exactMatch MONDO:0011200 torsion dystonia 7 semapv:ManualMappingCuration -NANDO:1200519 Dystonia 8 skos:exactMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualMappingCuration -NANDO:1200520 Dystonia 9 skos:exactMatch MONDO:0010983 dystonia 9 semapv:ManualMappingCuration -NANDO:1200521 Dystonia 10 skos:exactMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:ManualMappingCuration -NANDO:1200522 Dystonia 11 skos:exactMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:ManualMappingCuration -NANDO:1200523 Dystonia 12 skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration -NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:exactMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration -NANDO:1200525 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:exactMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:ManualMappingCuration -NANDO:1200527 Dystonia 13 skos:exactMatch MONDO:0011886 torsion dystonia 13 semapv:ManualMappingCuration -NANDO:1200528 Dystonia 15 skos:exactMatch MONDO:0011844 myoclonic dystonia 15 semapv:ManualMappingCuration -NANDO:1200529 Dystonia 16 skos:exactMatch MONDO:0012789 dystonia 16 semapv:ManualMappingCuration -NANDO:1200530 Dystonia 17 skos:exactMatch MONDO:0012895 torsion dystonia 17 semapv:ManualMappingCuration -NANDO:1200531 Dystonia 18 skos:exactMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:ManualMappingCuration -NANDO:1200532 Dystonia 19 skos:exactMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:ManualMappingCuration -NANDO:1200533 Dystonia 20 skos:exactMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualMappingCuration -NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:exactMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:ManualMappingCuration -NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:exactMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:ManualMappingCuration -NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration -NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:exactMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:ManualMappingCuration -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:ManualMappingCuration -NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:exactMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:1200542 Neuroferritinopathy skos:exactMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration -NANDO:1200543 Superficial siderosis skos:exactMatch MONDO:0016594 superficial siderosis semapv:ManualMappingCuration -NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0010829 CARASIL syndrome semapv:ManualMappingCuration -NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:exactMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:ManualMappingCuration -NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:exactMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:ManualMappingCuration -NANDO:1200547 Perry syndrome skos:exactMatch MONDO:0008201 Perry syndrome semapv:ManualMappingCuration -NANDO:1200548 Frontotemporal lobar degeneration skos:exactMatch MONDO:0017276 frontotemporal dementia semapv:ManualMappingCuration -NANDO:1200549 Behavioral variant frontotemporal dementia skos:exactMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:ManualMappingCuration -NANDO:1200550 Semantic dementia skos:exactMatch MONDO:0010857 semantic dementia semapv:ManualMappingCuration -NANDO:1200551 Bickerstaff's brainstem encephalitis skos:exactMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:ManualMappingCuration -NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration -NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration -NANDO:1200554 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration -NANDO:1200555 Alexander disease type I skos:exactMatch MONDO:0018209 Alexander disease type I semapv:ManualMappingCuration -NANDO:1200556 Alexander disease type II skos:exactMatch MONDO:0018210 Alexander disease type II semapv:ManualMappingCuration -NANDO:1200558 Congenital suprabulbar paresis skos:exactMatch MONDO:0008503 Worster-Drought syndrome semapv:ManualMappingCuration -NANDO:1200559 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration -NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration -NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration -NANDO:1200561 Septo-optic dysplasia skos:exactMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:ManualMappingCuration -NANDO:1200562 Aicardi syndrome skos:exactMatch MONDO:0010568 Aicardi syndrome semapv:ManualMappingCuration -NANDO:1200563 Hemimegalencephaly skos:exactMatch MONDO:0020492 hemimegalencephaly semapv:ManualMappingCuration -NANDO:1200564 Focal cortical dysplasia skos:exactMatch MONDO:0019009 isolated focal cortical dysplasia semapv:ManualMappingCuration -NANDO:1200565 Focal cortical dysplasia type 1a skos:exactMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:ManualMappingCuration -NANDO:1200566 Focal cortical dysplasia type 1b skos:exactMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:ManualMappingCuration -NANDO:1200567 Focal cortical dysplasia type 1c skos:exactMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:ManualMappingCuration -NANDO:1200574 Neuronal migration defects skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration -NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration -NANDO:1200576 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration -NANDO:1200577 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration -NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration -NANDO:1200579 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration -NANDO:1200580 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration -NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration -NANDO:1200582 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration -NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration -NANDO:1200584 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration -NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration -NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration -NANDO:1200587 Dravet syndrome skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration -NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:exactMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:ManualMappingCuration -NANDO:1200589 Myoclonic absence epilepsy skos:exactMatch MONDO:0019487 epilepsy with myoclonic absences semapv:ManualMappingCuration -NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:exactMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:ManualMappingCuration -NANDO:1200591 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration -NANDO:1200592 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration -NANDO:1200593 Ohtahara syndrome skos:exactMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:ManualMappingCuration -NANDO:1200594 Early myoclonic encephalopathy skos:exactMatch MONDO:0016022 early myoclonic encephalopathy semapv:ManualMappingCuration -NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:ManualMappingCuration -NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:exactMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:ManualMappingCuration -NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:exactMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:ManualMappingCuration -NANDO:1200597 Ring chromosome 20 syndrome skos:exactMatch MONDO:0015436 ring chromosome 20 semapv:ManualMappingCuration -NANDO:1200598 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration -NANDO:1200599 PCDH19-related syndrome skos:exactMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:ManualMappingCuration -NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0019123 continuous spikes and waves during sleep semapv:ManualMappingCuration -NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:exactMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:ManualMappingCuration -NANDO:1200602 Landau-Kleffner syndrome skos:exactMatch MONDO:0009509 Landau-Kleffner syndrome semapv:ManualMappingCuration -NANDO:1200603 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration -NANDO:1200604 Typical Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration -NANDO:1200605 Atypical Rett syndrome skos:exactMatch MONDO:0017746 atypical Rett syndrome semapv:ManualMappingCuration -NANDO:1200606 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration -NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration -NANDO:1200607 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration -NANDO:1200608 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration -NANDO:1200609 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration -NANDO:1200610 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration -NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:1200613 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:1200614 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration -NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration -NANDO:1200616 Congenital ichthyosiform erythroderma skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration -NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0017778 lamellar ichthyosis semapv:ManualMappingCuration -NANDO:1200617 Lamellar ichthyosis skos:exactMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration -NANDO:1200618 Ichthyosis syndrome skos:exactMatch MONDO:0019269 ichthyosis semapv:ManualMappingCuration -NANDO:1200619 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration -NANDO:1200620 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration -NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration -NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration -NANDO:1200622 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration -NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration -NANDO:1200624 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration -NANDO:1200625 Recessive X-linked ichtyosis skos:exactMatch MONDO:0010622 recessive X-linked ichthyosis semapv:ManualMappingCuration -NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:exactMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:ManualMappingCuration -NANDO:1200627 Trichothiodystrophy skos:exactMatch MONDO:0018053 trichothiodystrophy semapv:ManualMappingCuration -NANDO:1200628 Ichthyosis follicularis skos:exactMatch MONDO:0043094 ichthyosis, follicular semapv:ManualMappingCuration -NANDO:1200629 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration -NANDO:1200630 Conradi Hünermann Happle syndrome skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration -NANDO:1200631 Benign familial pemphigus skos:exactMatch MONDO:0008218 Hailey-Hailey disease semapv:ManualMappingCuration -NANDO:1200633 Bullous pemphigoid skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration -NANDO:1200634 Mucous membrane pemphigoid skos:exactMatch MONDO:0018746 mucous membrane pemphigoid semapv:ManualMappingCuration -NANDO:1200635 Epidermolysis bullosa acquisita skos:exactMatch MONDO:0018747 acquired epidermolysis bullosa semapv:ManualMappingCuration -NANDO:1200637 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration -NANDO:1200638 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:ManualMappingCuration -NANDO:1200639 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration -NANDO:1200640 Griscelli syndrome skos:exactMatch MONDO:0018306 Griscelli syndrome semapv:ManualMappingCuration -NANDO:1200641 Non-syndromic oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration -NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration -NANDO:1200642 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration -NANDO:1200643 Pseudoxanthoma elasticum skos:exactMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:ManualMappingCuration -NANDO:1200644 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration -NANDO:1200645 Ehlers-Danlos Syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration -NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration -NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration -NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration -NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration -NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration -NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration -NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration -NANDO:1200653 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration -NANDO:1200654 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration -NANDO:1200655 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration -NANDO:1200656 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration -NANDO:1200657 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration -NANDO:1200658 Nasu-Hakola disease skos:exactMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:ManualMappingCuration -NANDO:1200659 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration -NANDO:1200660 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration -NANDO:1200661 Joubert syndrome and related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration -NANDO:1200662 Arima syndrome skos:exactMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:ManualMappingCuration -NANDO:1200663 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration -NANDO:1200664 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration -NANDO:1200665 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration -NANDO:1200666 Crouzon's syndrome skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration -NANDO:1200667 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration -NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration -NANDO:1200668 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration -NANDO:1200669 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration -NANDO:1200670 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration -NANDO:1200671 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:ManualMappingCuration -NANDO:1200672 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration -NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0007029 branchio-oto-renal syndrome semapv:ManualMappingCuration -NANDO:1200675 Branchio-oto-renal syndrome skos:exactMatch MONDO:0018878 branchiootic syndrome semapv:ManualMappingCuration -NANDO:1200676 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration -NANDO:1200677 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration -NANDO:1200678 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration -NANDO:1200679 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration -NANDO:1200680 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration -NANDO:1200681 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration -NANDO:1200682 1p36 deletion syndrome skos:exactMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:ManualMappingCuration -NANDO:1200683 4p deletion syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration -NANDO:1200684 5p deletion syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration -NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:exactMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:ManualMappingCuration -NANDO:1200686 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration -NANDO:1200687 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration -NANDO:1200688 22q11.2 deletion syndrome skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration -NANDO:1200689 Emanuel syndrome skos:exactMatch MONDO:0012176 Emanuel syndrome semapv:ManualMappingCuration -NANDO:1200690 Fragile X syndrome related diseases skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration -NANDO:1200691 Fragile X tremor/ataxia syndrome skos:exactMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration -NANDO:1200692 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration -NANDO:1200698 Corrected transposition of great arteries skos:exactMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:ManualMappingCuration -NANDO:1200699 Complete transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:1200704 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration -NANDO:1200705 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration -NANDO:1200706 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration -NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration -NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration -NANDO:1200709 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration -NANDO:1200710 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration -NANDO:1200711 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration -NANDO:1200712 Alport's syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration -NANDO:1200713 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration -NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration -NANDO:1200714 Rapidly progressive glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:ManualMappingCuration -NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration -NANDO:1200718 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration -NANDO:1200719 Primary nephrotic syndrome skos:exactMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:ManualMappingCuration -NANDO:1200720 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration -NANDO:1200721 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration -NANDO:1200722 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration -NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration -NANDO:1200723 Crescentic glomerulonephritis skos:exactMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration -NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:exactMatch MONDO:0019736 dense deposit disease semapv:ManualMappingCuration -NANDO:1200741 Henoch-Schonlein purpura nephritis skos:exactMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:ManualMappingCuration -NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration -NANDO:1200743 Interstitial cystitis (Hunner type) skos:exactMatch MONDO:0018301 interstitial cystitis semapv:ManualMappingCuration -NANDO:1200744 Osler disease skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration -NANDO:1200745 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration -NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200746 Pulmonary alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:exactMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:exactMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200750 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:1200752 Obesity hypoventilation syndrome skos:exactMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:ManualMappingCuration -NANDO:1200753 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration -NANDO:1200755 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration -NANDO:1200756 Carney complex skos:exactMatch MONDO:0015285 Carney complex semapv:ManualMappingCuration -NANDO:1200757 Wolfram syndrome skos:exactMatch MONDO:0018105 Wolfram syndrome semapv:ManualMappingCuration -NANDO:1200758 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration -NANDO:1200759 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration -NANDO:1200760 Zellweger syndrome skos:exactMatch MONDO:0019609 Zellweger spectrum disorders semapv:ManualMappingCuration -NANDO:1200761 Neonatal adrenoleukodystrophy skos:exactMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:1200762 Infantile Refsum disease skos:exactMatch MONDO:0019174 obsolete infantile Refsum disease semapv:ManualMappingCuration -NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:exactMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:ManualMappingCuration -NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:exactMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:ManualMappingCuration -NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:exactMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:ManualMappingCuration -NANDO:1200766 D-bifunctional protein deficiency skos:exactMatch MONDO:0009855 d-bifunctional protein deficiency semapv:ManualMappingCuration -NANDO:1200767 Sterol carrier protein 2 deficiency skos:exactMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:ManualMappingCuration -NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:exactMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:ManualMappingCuration -NANDO:1200769 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration -NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:exactMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:ManualMappingCuration -NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:exactMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:ManualMappingCuration -NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:exactMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:ManualMappingCuration -NANDO:1200773 Primary hyperoxaluria type 1 skos:exactMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:ManualMappingCuration -NANDO:1200774 Acatalasemia skos:exactMatch MONDO:0013571 acatalasia semapv:ManualMappingCuration -NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration -NANDO:1200775 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration -NANDO:1200776 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration -NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:1200779 Vitamin D-resistant rickets skos:exactMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:ManualMappingCuration -NANDO:1200780 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration -NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:exactMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:ManualMappingCuration -NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:exactMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:ManualMappingCuration -NANDO:1200784 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration -NANDO:1200785 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration -NANDO:1200786 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration -NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration -NANDO:1200788 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration -NANDO:1200789 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration -NANDO:1200790 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration -NANDO:1200791 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration -NANDO:1200792 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration -NANDO:1200793 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration -NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:exactMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualMappingCuration -NANDO:1200795 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration -NANDO:1200796 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration -NANDO:1200797 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration -NANDO:1200798 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration -NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:ManualMappingCuration -NANDO:1200799 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration -NANDO:1200800 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:1200801 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:1200802 Urea cycle disorder skos:exactMatch MONDO:0004739 urea cycle disorder semapv:ManualMappingCuration -NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration -NANDO:1200804 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration -NANDO:1200805 Classic citrullinemia skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration -NANDO:1200806 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration -NANDO:1200807 Argininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration -NANDO:1200808 NAGS deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration -NANDO:1200809 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration -NANDO:1200810 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration -NANDO:1200811 Porphyria skos:exactMatch MONDO:0037939 porphyria semapv:ManualMappingCuration -NANDO:1200812 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration -NANDO:1200813 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration -NANDO:1200814 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration -NANDO:1200815 Erythropoietic protoporphyria skos:exactMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:1200816 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration -NANDO:1200818 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:1200819 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration -NANDO:1200820 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration -NANDO:1200821 Holocarboxylase synthetase deficiency skos:exactMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:ManualMappingCuration -NANDO:1200822 Biotinidase deficiency skos:exactMatch MONDO:0009665 biotinidase deficiency semapv:ManualMappingCuration -NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration -NANDO:1200823 Muscle glycogen storage disease skos:exactMatch MONDO:0016118 obsolete muscular glycogenosis semapv:ManualMappingCuration -NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:1200824 Glycogen storage diseases type 0 skos:exactMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:1200825 Glycogen storage diseases type II skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration -NANDO:1200826 Glycogen storage diseases type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration -NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0008222 Andersen-Tawil syndrome semapv:ManualMappingCuration -NANDO:1200827 Glycogen storage diseases type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration -NANDO:1200828 Glycogen storage diseases type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration -NANDO:1200829 Glycogen storage diseases type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration -NANDO:1200830 Glycogen storage diseases type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration -NANDO:1200832 Glycogen storage diseases type X skos:exactMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:ManualMappingCuration -NANDO:1200833 Glycogen storage diseases type XI skos:exactMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:ManualMappingCuration -NANDO:1200834 Glycogen storage diseases type XII skos:exactMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:ManualMappingCuration -NANDO:1200835 Glycogen storage diseases type XIII skos:exactMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:ManualMappingCuration -NANDO:1200836 Glycogen storage diseases type XIV skos:exactMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:ManualMappingCuration -NANDO:1200837 Glycogen storage diseases type XV skos:exactMatch MONDO:0013291 glycogen storage disease XV semapv:ManualMappingCuration -NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0002412 disorder of glycogen metabolism semapv:ManualMappingCuration -NANDO:1200840 Hepatic glycogen storage disease type Ia skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration -NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration -NANDO:1200841 Hepatic glycogen storage disease type Ib skos:exactMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:ManualMappingCuration -NANDO:1200844 Hepatic GSD type IIIc skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration -NANDO:1200846 Hepatic glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration -NANDO:1200847 Hepatic glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration -NANDO:1200848 Hepatic glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration -NANDO:1200849 Hepatic glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration -NANDO:1200850 Hepatic glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration -NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0009515 Norum disease semapv:ManualMappingCuration -NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:exactMatch MONDO:0018999 LCAT deficiency semapv:ManualMappingCuration -NANDO:1200853 Sitosterolemia skos:exactMatch MONDO:0008863 sitosterolemia semapv:ManualMappingCuration -NANDO:1200854 Tangier disease skos:exactMatch MONDO:0008783 Tangier disease semapv:ManualMappingCuration -NANDO:1200856 Cerebrotendinous xanthomatosis skos:exactMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:ManualMappingCuration -NANDO:1200857 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration -NANDO:1200858 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration -NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0006536 congenital generalized lipodystrophy semapv:ManualMappingCuration -NANDO:1200859 Generalized congenital lipodystrophy skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration -NANDO:1200860 Acquired generalized lipodystrophy skos:exactMatch MONDO:0019193 acquired generalized lipodystrophy semapv:ManualMappingCuration -NANDO:1200861 Familial partial lipodystrophy skos:exactMatch MONDO:0020088 familial partial lipodystrophy semapv:ManualMappingCuration -NANDO:1200862 Acquired partial lipodystrophy skos:exactMatch MONDO:0012104 acquired partial lipodystrophy semapv:ManualMappingCuration -NANDO:1200863 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration -NANDO:1200864 Typical familial Mediterranean fever skos:exactMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:ManualMappingCuration -NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration -NANDO:1200866 Hyper IgD syndrome skos:exactMatch MONDO:0012481 mevalonic aciduria semapv:ManualMappingCuration -NANDO:1200867 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration -NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration -NANDO:1200870 Ankylosing spondylitis skos:exactMatch MONDO:0005306 ankylosing spondylitis semapv:ManualMappingCuration -NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration -NANDO:1200871 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration -NANDO:1200873 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration -NANDO:1200874 Thanatophoric dysplasia skos:exactMatch MONDO:0017042 thanatophoric dysplasia semapv:ManualMappingCuration -NANDO:1200875 Thanatophoric dysplasia type 1 skos:exactMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:ManualMappingCuration -NANDO:1200876 Thanatophoric dysplasia type 2 skos:exactMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:ManualMappingCuration -NANDO:1200877 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration -NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration -NANDO:1200879 obsolete Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration -NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration -NANDO:1200880 obsolete Gorham disease skos:exactMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:ManualMappingCuration -NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration -NANDO:1200885 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration -NANDO:1200886 Congenital dyserythropoietic anemia type I skos:exactMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:ManualMappingCuration -NANDO:1200887 Congenital dyserythropoietic anemia type II skos:exactMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:ManualMappingCuration -NANDO:1200888 Congenital dyserythropoietic anemia type III skos:exactMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:ManualMappingCuration -NANDO:1200890 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration -NANDO:1200891 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration -NANDO:1200893 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration -NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:exactMatch MONDO:0020599 acquired coagulation factor deficiency semapv:ManualMappingCuration -NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:exactMatch MONDO:0021133 acquired factor XIII deficiency semapv:ManualMappingCuration -NANDO:1200898 Acquired hemophilia A skos:exactMatch MONDO:0019139 acquired hemophilia semapv:ManualMappingCuration -NANDO:1200899 Acquired von Willebrand disease skos:exactMatch MONDO:0020460 acquired von willebrand syndrome semapv:ManualMappingCuration -NANDO:1200901 Cronkhite-Canada syndrome skos:exactMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:ManualMappingCuration -NANDO:1200903 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration -NANDO:1200909 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration -NANDO:1200910 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration -NANDO:1200911 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration -NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration -NANDO:1200913 Biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration -NANDO:1200918 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration -NANDO:1200919 Typical Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration -NANDO:1200921 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration -NANDO:1200922 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration -NANDO:1200923 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration -NANDO:1200924 IgG4-related disease skos:exactMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration -NANDO:1200925 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration -NANDO:1200928 IgG4-related sclerosing cholangitis skos:exactMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:ManualMappingCuration -NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:ManualMappingCuration -NANDO:1200930 IgG4-related kidney disease skos:exactMatch MONDO:0018671 IgG4-related kidney disease semapv:ManualMappingCuration -NANDO:1200931 Macular dystrophy skos:exactMatch MONDO:0020242 hereditary macular dystrophy semapv:ManualMappingCuration -NANDO:1200932 Vitelliform macular dystrophy skos:exactMatch MONDO:0000390 vitelliform macular dystrophy semapv:ManualMappingCuration -NANDO:1200933 Stargardt disease skos:exactMatch MONDO:0019353 Stargardt disease semapv:ManualMappingCuration -NANDO:1200934 Occult macular dystrophy skos:exactMatch MONDO:0013316 occult macular dystrophy semapv:ManualMappingCuration -NANDO:1200936 Cone dystrophy skos:exactMatch MONDO:0000455 cone dystrophy semapv:ManualMappingCuration -NANDO:1200937 Cone-rod dystrophy skos:exactMatch MONDO:0015993 cone-rod dystrophy semapv:ManualMappingCuration -NANDO:1200938 X-linked juvenile retinoschisis skos:exactMatch MONDO:0010725 X-linked retinoschisis semapv:ManualMappingCuration -NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0004890 partial central choroid dystrophy semapv:ManualMappingCuration -NANDO:1200939 Central areolar choroidal dystrophy skos:exactMatch MONDO:0008982 central areolar choroidal dystrophy semapv:ManualMappingCuration -NANDO:1200940 Leber hereditary optic neuropathy skos:exactMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration -NANDO:1200941 Usher syndrome skos:exactMatch MONDO:0019501 Usher syndrome semapv:ManualMappingCuration -NANDO:1200942 Usher syndrome type I skos:exactMatch MONDO:0010168 Usher syndrome type 1 semapv:ManualMappingCuration -NANDO:1200943 Usher syndrome Type II skos:exactMatch MONDO:0016484 Usher syndrome type 2 semapv:ManualMappingCuration -NANDO:1200944 Usher syndrome Type III skos:exactMatch MONDO:0016485 Usher syndrome type 3 semapv:ManualMappingCuration -NANDO:1200948 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration -NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration -NANDO:1200951 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration -NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:exactMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:ManualMappingCuration -NANDO:1200953 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration -NANDO:1200954 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration -NANDO:1200955 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration -NANDO:1200956 Benign adult familial myoclonus epilepsy skos:exactMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:ManualMappingCuration -NANDO:1200957 Congenital anomalies syndrome skos:exactMatch MONDO:0000839 obsolete congenital abnormality semapv:ManualMappingCuration -NANDO:1200958 Partial trisomy 1q skos:exactMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:ManualMappingCuration -NANDO:1200959 9q34 deletion syndrome skos:exactMatch MONDO:0012455 Kleefstra syndrome semapv:ManualMappingCuration -NANDO:1200960 Cornelia de lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration -NANDO:1200961 Smith-lemli-opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration -NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration -NANDO:1200962 Congenital tricuspid stenosis skos:exactMatch MONDO:0019813 congenital tricuspid stenosis semapv:ManualMappingCuration -NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration -NANDO:1200963 Congenital mitral stenosis skos:exactMatch MONDO:0020398 congenital mitral stenosis semapv:ManualMappingCuration -NANDO:1200964 Congenital pulmonary vein stenosis skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration -NANDO:1200967 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration -NANDO:1200969 Carnitine cycle disorders skos:exactMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:ManualMappingCuration -NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration -NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration -NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration -NANDO:1200973 Systemic primary carnitine deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration -NANDO:1200974 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration -NANDO:1200978 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration -NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:exactMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:ManualMappingCuration -NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:ManualMappingCuration -NANDO:1200980 Adult-onset type II citrullinemia skos:exactMatch MONDO:0016603 citrullinemia type II semapv:ManualMappingCuration -NANDO:1200982 Sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:ManualMappingCuration -NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:exactMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:ManualMappingCuration -NANDO:1200984 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration -NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:exactMatch MONDO:0017353 neonatal glycine encephalopathy semapv:ManualMappingCuration -NANDO:1200986 Infantile nonketotic hyperglycinemia skos:exactMatch MONDO:0017354 infantile glycine encephalopathy semapv:ManualMappingCuration -NANDO:1200987 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration -NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration -NANDO:1200989 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration -NANDO:1200990 3-methylglutaconic aciduria type I skos:exactMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:ManualMappingCuration -NANDO:1200991 3-methylglutaconicaciduria type II skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration -NANDO:1200992 3-methylglutaconic aciduria type III skos:exactMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:ManualMappingCuration -NANDO:1200994 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:1200996 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration -NANDO:1200997 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration -NANDO:1200998 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration -NANDO:1201000 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 anterior segment dysgenesis semapv:ManualMappingCuration -NANDO:1201001 Aniridia skos:exactMatch MONDO:0019172 aniridia semapv:ManualMappingCuration -NANDO:1201003 Congenital tracheal stenosis skos:exactMatch MONDO:0011340 congenital tracheal stenosis semapv:ManualMappingCuration -NANDO:1201004 Congenital subglottic stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration -NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:exactMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:ManualMappingCuration -NANDO:1201007 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration -NANDO:1201009 Systemic granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:exactMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:ManualMappingCuration -NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:ManualMappingCuration -NANDO:1201011 Limited cutaneous systemic sclerosis skos:exactMatch MONDO:0019563 CREST syndrome semapv:ManualMappingCuration -NANDO:1201018 Hepatic glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration -NANDO:1201019 Hepatic glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration -NANDO:1201020 Hepatic glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration -NANDO:1201021 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration -NANDO:1201029 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:2100002 Leukemia skos:exactMatch MONDO:0004355 childhood leukemia semapv:ManualMappingCuration -NANDO:2100002 Leukemia skos:exactMatch MONDO:0005059 leukemia semapv:ManualMappingCuration -NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration -NANDO:2100003 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003659 pediatric lymphoma semapv:ManualMappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0003660 adult lymphoma semapv:ManualMappingCuration -NANDO:2100004 Lymphoma skos:exactMatch MONDO:0005062 lymphoma semapv:ManualMappingCuration -NANDO:2100005 Histiocytosis skos:exactMatch MONDO:0002637 histiocytosis semapv:ManualMappingCuration -NANDO:2100007 Central nervous system tumors skos:exactMatch MONDO:0002714 central nervous system cancer semapv:ManualMappingCuration -NANDO:2100008 Chronic kidney disease skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration -NANDO:2100009 Nephrotic syndrome skos:exactMatch MONDO:0005377 nephrotic syndrome semapv:ManualMappingCuration -NANDO:2100012 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration -NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration -NANDO:2100015 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration -NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration -NANDO:2100016 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration -NANDO:2100019 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration -NANDO:2100020 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration -NANDO:2100021 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration -NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration -NANDO:2100023 Chronic renal failure skos:exactMatch MONDO:0024327 chronic renal failure syndrome semapv:ManualMappingCuration -NANDO:2100027 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration -NANDO:2100028 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration -NANDO:2100031 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration -NANDO:2100032 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration -NANDO:2100034 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration -NANDO:2100035 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration -NANDO:2100036 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration -NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration -NANDO:2100039 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration -NANDO:2100040 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration -NANDO:2100043 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration -NANDO:2100044 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration -NANDO:2100046 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration -NANDO:2100049 Ventricular tachycardia skos:exactMatch MONDO:0005477 ventricular tachycardia semapv:ManualMappingCuration -NANDO:2100050 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration -NANDO:2100051 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration -NANDO:2100052 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration -NANDO:2100053 Long QT syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration -NANDO:2100054 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration -NANDO:2100057 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration -NANDO:2100058 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:2100060 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration -NANDO:2100061 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration -NANDO:2100064 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration -NANDO:2100070 Ischemic heart disease skos:exactMatch MONDO:0024644 myocardial ischemia semapv:ManualMappingCuration -NANDO:2100071 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration -NANDO:2100073 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration -NANDO:2100075 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration -NANDO:2100076 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration -NANDO:2100077 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration -NANDO:2100079 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:2100080 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration -NANDO:2100082 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration -NANDO:2100083 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration -NANDO:2100084 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration -NANDO:2100085 Atrial septal defect skos:exactMatch MONDO:0006664 atrial septal defect semapv:ManualMappingCuration -NANDO:2100086 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration -NANDO:2100087 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration -NANDO:2100090 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration -NANDO:2100092 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration -NANDO:2100093 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration -NANDO:2100095 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration -NANDO:2100098 Aortic stenosis skos:exactMatch MONDO:0004978 obsolete aortic stenosis semapv:ManualMappingCuration -NANDO:2100101 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration -NANDO:2100103 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:2100105 Valvular heart disease skos:exactMatch MONDO:0002869 heart valve disorder semapv:ManualMappingCuration -NANDO:2100109 Endocrine disease skos:exactMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration -NANDO:2100110 Hypopituitarism skos:exactMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration -NANDO:2100111 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration -NANDO:2100112 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration -NANDO:2100114 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration -NANDO:2100115 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration -NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration -NANDO:2100117 Diabetes insipidus skos:exactMatch MONDO:0004782 diabetes insipidus semapv:ManualMappingCuration -NANDO:2100119 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration -NANDO:2100120 Hypothyroidism skos:exactMatch MONDO:0005420 hypothyroidism semapv:ManualMappingCuration -NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration -NANDO:2100121 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration -NANDO:2100123 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration -NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration -NANDO:2100124 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration -NANDO:2100125 Autoimmune polyendocrinopathy skos:exactMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:ManualMappingCuration -NANDO:2100126 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration -NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration -NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration -NANDO:2100131 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration -NANDO:2100132 Hypoaldosteronism skos:exactMatch MONDO:0015900 hypoaldosteronism disease semapv:ManualMappingCuration -NANDO:2100133 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration -NANDO:2100134 Congenital adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration -NANDO:2100135 Precocious puberty skos:exactMatch MONDO:0000088 precocious puberty semapv:ManualMappingCuration -NANDO:2100138 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration -NANDO:2100139 Hypergonadotropic hypogonadism skos:exactMatch MONDO:0005387 primary ovarian failure semapv:ManualMappingCuration -NANDO:2100140 Disorders of sex development skos:exactMatch MONDO:0002145 disorder of sexual differentiation semapv:ManualMappingCuration -NANDO:2100142 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration -NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration -NANDO:2100143 Hyperinsulinemic hypoglycemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration -NANDO:2100144 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration -NANDO:2100147 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration -NANDO:2100148 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 multiple endocrine neoplasia semapv:ManualMappingCuration -NANDO:2100149 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration -NANDO:2100151 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration -NANDO:2100152 Collagen disease skos:exactMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration -NANDO:2100154 Relapsing Polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration -NANDO:2100156 Autoinflammatory disease skos:exactMatch MONDO:0019751 autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2100157 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration -NANDO:2100158 Diabetes skos:exactMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration -NANDO:2100159 Inborn errors of metabolism skos:exactMatch MONDO:0019052 inborn errors of metabolism semapv:ManualMappingCuration -NANDO:2100160 Disorder of amino acid metabolism skos:exactMatch MONDO:0037871 amino acid metabolism disease semapv:ManualMappingCuration -NANDO:2100161 Disorder of organic acid metabolism skos:exactMatch MONDO:0045022 disorder of organic acid metabolism semapv:ManualMappingCuration -NANDO:2100162 Disorder of fatty-acid metabolism skos:exactMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:ManualMappingCuration -NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration -NANDO:2100163 Mitochondrial diseases skos:exactMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration -NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:ManualMappingCuration -NANDO:2100164 Disorder of carbohydrate metabolism skos:exactMatch MONDO:0037792 carbohydrate metabolism disease semapv:ManualMappingCuration -NANDO:2100165 Lysosomal storage disease skos:exactMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration -NANDO:2100166 Peroxisomal disorder skos:exactMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration -NANDO:2100172 Connective tissue disorder skos:exactMatch MONDO:0003900 connective tissue disorder semapv:ManualMappingCuration -NANDO:2100174 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration -NANDO:2100175 Blood disease skos:exactMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration -NANDO:2100176 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration -NANDO:2100177 Pure red cell aplasia skos:exactMatch MONDO:0001705 pure red-cell aplasia semapv:ManualMappingCuration -NANDO:2100178 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration -NANDO:2100179 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration -NANDO:2100180 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration -NANDO:2100181 Autoimmune hemolytic anemia skos:exactMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration -NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration -NANDO:2100183 Hereditary hemolytic anemia skos:exactMatch MONDO:0003689 familial hemolytic anemia semapv:ManualMappingCuration -NANDO:2100186 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration -NANDO:2100187 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration -NANDO:2100188 Thrombocytopenic purpura skos:exactMatch MONDO:0043768 thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:2100189 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:2100192 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration -NANDO:2100193 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration -NANDO:2100194 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration -NANDO:2100197 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration -NANDO:2100198 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration -NANDO:2100200 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration -NANDO:2100201 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration -NANDO:2100202 Immune system disease skos:exactMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration -NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0015131 combined immunodeficiency semapv:ManualMappingCuration -NANDO:2100203 Combined immunodeficiency skos:exactMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:ManualMappingCuration -NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration -NANDO:2100204 Immunodeficiency skos:exactMatch MONDO:0021094 immunodeficiency disease semapv:ManualMappingCuration -NANDO:2100212 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualMappingCuration -NANDO:2100213 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration -NANDO:2100214 Neuromuscular disease skos:exactMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration -NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration -NANDO:2100215 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration -NANDO:2100216 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration -NANDO:2100217 Brain malformation skos:exactMatch MONDO:0016054 cerebral malformation semapv:ManualMappingCuration -NANDO:2100218 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration -NANDO:2100219 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration -NANDO:2100220 Neurocutaneous syndrome skos:exactMatch MONDO:0042983 neurocutaneous syndrome semapv:ManualMappingCuration -NANDO:2100221 Progeroid syndromes skos:exactMatch MONDO:0015333 progeroid syndrome semapv:ManualMappingCuration -NANDO:2100223 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration -NANDO:2100224 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration -NANDO:2100226 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration -NANDO:2100227 Craniosynostosis skos:exactMatch MONDO:0015469 craniosynostosis semapv:ManualMappingCuration -NANDO:2100228 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration -NANDO:2100229 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration -NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration -NANDO:2100231 Spinal muscular atrophy skos:exactMatch MONDO:0019079 proximal spinal muscular atrophy semapv:ManualMappingCuration -NANDO:2100233 Muscular dystrophy skos:exactMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration -NANDO:2100234 Congenital myopathy skos:exactMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration -NANDO:2100235 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration -NANDO:2100237 Progressive myoclonus epilepsy skos:exactMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration -NANDO:2100238 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration -NANDO:2100239 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:2100240 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration -NANDO:2100241 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:ManualMappingCuration -NANDO:2100242 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration -NANDO:2100244 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration -NANDO:2100245 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:2100246 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration -NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration -NANDO:2100248 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration -NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration -NANDO:2100250 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration -NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration -NANDO:2100252 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration -NANDO:2100255 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration -NANDO:2100256 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration -NANDO:2100257 Polyposis skos:exactMatch MONDO:0000147 polyposis semapv:ManualMappingCuration -NANDO:2100258 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration -NANDO:2100259 Inflammatory bowel disease skos:exactMatch MONDO:0005265 inflammatory bowel disease semapv:ManualMappingCuration -NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration -NANDO:2100264 Autoimmune hepatitis skos:exactMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration -NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration -NANDO:2100265 Primary sclerosing cholangitis skos:exactMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration -NANDO:2100267 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration -NANDO:2100268 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration -NANDO:2100272 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration -NANDO:2100274 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration -NANDO:2100279 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration -NANDO:2100280 Chromosome abnormality skos:exactMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration -NANDO:2100281 Skin disease skos:exactMatch MONDO:0005093 skin disorder semapv:ManualMappingCuration -NANDO:2100283 Congenital ichthyosis skos:exactMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration -NANDO:2100284 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2100285 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration -NANDO:2100286 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration -NANDO:2100287 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration -NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration -NANDO:2100288 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration -NANDO:2100290 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration -NANDO:2100291 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration -NANDO:2100293 Bone disease skos:exactMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration -NANDO:2100294 Vascular disease skos:exactMatch MONDO:0005385 vascular disorder semapv:ManualMappingCuration -NANDO:2100295 Vascular malformation skos:exactMatch MONDO:0024291 vascular malformation semapv:ManualMappingCuration -NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration -NANDO:2100297 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration -NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration -NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:exactMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:ManualMappingCuration -NANDO:2200003 T-cell lymphoblastic leukemia skos:exactMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration -NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:exactMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:ManualMappingCuration -NANDO:2200005 Acute myeloid leukemia without maturation skos:exactMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:ManualMappingCuration -NANDO:2200006 Acute myeloid leukemia with maturation skos:exactMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:ManualMappingCuration -NANDO:2200007 Acute promyelocytic leukemia skos:exactMatch MONDO:0012883 acute promyelocytic leukemia semapv:ManualMappingCuration -NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration -NANDO:2200008 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration -NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration -NANDO:2200009 Acute monocytic leukemia skos:exactMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration -NANDO:2200010 Acute erythremia skos:exactMatch MONDO:0017858 acute erythroid leukemia semapv:ManualMappingCuration -NANDO:2200011 Acute megakaryoblastic leukemia skos:exactMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:ManualMappingCuration -NANDO:2200012 NK cell leukemia skos:exactMatch MONDO:0019470 aggressive NK-cell leukemia semapv:ManualMappingCuration -NANDO:2200013 Chronic myeloid leukemia skos:exactMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualMappingCuration -NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration -NANDO:2200014 Chronic myelomonocytic leukemia skos:exactMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:ManualMappingCuration -NANDO:2200015 Juvenile myelomonocytic leukemia skos:exactMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration -NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration -NANDO:2200017 Acute undifferentiated leukemia skos:exactMatch MONDO:0020321 acute undifferentiated leukemia semapv:ManualMappingCuration -NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration -NANDO:2200018 Mixed phenotype acute leukemia skos:exactMatch MONDO:0020743 mixed phenotype acute leukemia semapv:ManualMappingCuration -NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration -NANDO:2200019 Myelodysplastic syndrome skos:exactMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration -NANDO:2200020 Mature B-cell lymphoma skos:exactMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:ManualMappingCuration -NANDO:2200021 Anaplastic large cell lymphoma skos:exactMatch MONDO:0020325 anaplastic large cell lymphoma semapv:ManualMappingCuration -NANDO:2200022 Precursor B lymphoblastic lymphoma skos:exactMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration -NANDO:2200023 Precursor T lymphoblastic lymphoma skos:exactMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:ManualMappingCuration -NANDO:2200024 Hodgkin lymphoma skos:exactMatch MONDO:0004952 Hodgkins lymphoma semapv:ManualMappingCuration -NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:exactMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:ManualMappingCuration -NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:exactMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:ManualMappingCuration -NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:exactMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:ManualMappingCuration -NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:exactMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:ManualMappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:ManualMappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:ManualMappingCuration -NANDO:2200031 Langerhans cell histiocytosis skos:exactMatch MONDO:0018310 Langerhans cell histiocytosis semapv:ManualMappingCuration -NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:exactMatch MONDO:0015540 hemophagocytic syndrome semapv:ManualMappingCuration -NANDO:2200034 Follicular dendritic cell sarcoma skos:exactMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:ManualMappingCuration -NANDO:2200035 Interdigitating dendritic cell sarcoma skos:exactMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:ManualMappingCuration -NANDO:2200036 Langerhans cell sarcoma skos:exactMatch MONDO:0019480 Langerhans cell sarcoma semapv:ManualMappingCuration -NANDO:2200037 Juvenile xanthogranuloma skos:exactMatch MONDO:0015534 juvenile xanthogranuloma semapv:ManualMappingCuration -NANDO:2200038 Erdheim-Chester disease skos:exactMatch MONDO:0018153 Erdheim-Chester disease semapv:ManualMappingCuration -NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:ManualMappingCuration -NANDO:2200039 Rosai-Dorfman disease skos:exactMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:ManualMappingCuration -NANDO:2200040 Neuroblastoma skos:exactMatch MONDO:0005072 neuroblastoma semapv:ManualMappingCuration -NANDO:2200041 Ganglioneuroblastoma skos:exactMatch MONDO:0005035 ganglioneuroblastoma semapv:ManualMappingCuration -NANDO:2200042 Retinoblastoma skos:exactMatch MONDO:0008380 retinoblastoma semapv:ManualMappingCuration -NANDO:2200043 Wilms tumour skos:exactMatch MONDO:0019004 kidney Wilms tumor semapv:ManualMappingCuration -NANDO:2200044 Clear cell sarcoma of the kidney skos:exactMatch MONDO:0005006 clear cell sarcoma of kidney semapv:ManualMappingCuration -NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005086 renal cell carcinoma semapv:ManualMappingCuration -NANDO:2200045 Renal cell carcinoma skos:exactMatch MONDO:0005549 renal cell adenocarcinoma semapv:ManualMappingCuration -NANDO:2200046 Hepatoblastoma skos:exactMatch MONDO:0018666 hepatoblastoma semapv:ManualMappingCuration -NANDO:2200047 Hepatocellular carcinoma skos:exactMatch MONDO:0007256 hepatocellular carcinoma semapv:ManualMappingCuration -NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0002623 pediatric osteosarcoma semapv:ManualMappingCuration -NANDO:2200048 Osteosarcoma skos:exactMatch MONDO:0009807 osteosarcoma semapv:ManualMappingCuration -NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration -NANDO:2200049 Osteochondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration -NANDO:2200050 Chondrosarcoma skos:exactMatch MONDO:0008977 chondrosarcoma semapv:ManualMappingCuration -NANDO:2200051 Chondroblastoma skos:exactMatch MONDO:0004997 chondroblastoma semapv:ManualMappingCuration -NANDO:2200052 Malignancy in giant cell tumour of bone skos:exactMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:ManualMappingCuration -NANDO:2200053 Ewing's sarcoma skos:exactMatch MONDO:0012817 Ewing sarcoma semapv:ManualMappingCuration -NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration -NANDO:2200056 Rhabdomyosarcoma skos:exactMatch MONDO:0005212 rhabdomyosarcoma semapv:ManualMappingCuration -NANDO:2200057 Malignant rhabdoid tumour skos:exactMatch MONDO:0002728 rhabdoid tumor semapv:ManualMappingCuration -NANDO:2200058 Undifferentiated sarcoma skos:exactMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:ManualMappingCuration -NANDO:2200059 Desmoplastic small round cell tumors skos:exactMatch MONDO:0019373 desmoplastic small round cell tumor semapv:ManualMappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002676 adult fibrosarcoma semapv:ManualMappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0002678 pediatric fibrosarcoma semapv:ManualMappingCuration -NANDO:2200060 Fibrosarcoma skos:exactMatch MONDO:0005164 fibrosarcoma semapv:ManualMappingCuration -NANDO:2200061 Synovial sarcoma skos:exactMatch MONDO:0010434 synovial sarcoma semapv:ManualMappingCuration -NANDO:2200062 Clear cell sarcoma skos:exactMatch MONDO:0002926 clear cell sarcoma semapv:ManualMappingCuration -NANDO:2200063 Alveolar soft part sarcoma skos:exactMatch MONDO:0011655 alveolar soft part sarcoma semapv:ManualMappingCuration -NANDO:2200064 Leiomyosarcoma skos:exactMatch MONDO:0005058 leiomyosarcoma semapv:ManualMappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003585 adult liposarcoma semapv:ManualMappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0003587 pediatric liposarcoma semapv:ManualMappingCuration -NANDO:2200065 Liposarcoma skos:exactMatch MONDO:0005060 liposarcoma semapv:ManualMappingCuration -NANDO:2200066 Dysgerminoma skos:exactMatch MONDO:0003002 dysgerminoma semapv:ManualMappingCuration -NANDO:2200067 Embryonal carcinoma skos:exactMatch MONDO:0005440 embryonal carcinoma semapv:ManualMappingCuration -NANDO:2200068 Polyembryoma skos:exactMatch MONDO:0015863 polyembryoma semapv:ManualMappingCuration -NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0005744 yolk sac tumor semapv:ManualMappingCuration -NANDO:2200070 Choriocarcinoma skos:exactMatch MONDO:0005207 choriocarcinoma semapv:ManualMappingCuration -NANDO:2200071 Mixed germ cell tumour skos:exactMatch MONDO:0015864 mixed germ cell tumor semapv:ManualMappingCuration -NANDO:2200072 Sex-cord stromal tumour skos:exactMatch MONDO:0006055 sex cord-stromal tumor semapv:ManualMappingCuration -NANDO:2200073 Adrenocortical carcinoma skos:exactMatch MONDO:0006639 adrenal cortex carcinoma semapv:ManualMappingCuration -NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0002108 thyroid cancer semapv:ManualMappingCuration -NANDO:2200074 Thyroid cancer skos:exactMatch MONDO:0015075 thyroid gland carcinoma semapv:ManualMappingCuration -NANDO:2200076 Salivary grand carcinoma skos:exactMatch MONDO:0000521 salivary gland carcinoma semapv:ManualMappingCuration -NANDO:2200077 Malignant melanoma skos:exactMatch MONDO:0005105 melanoma semapv:ManualMappingCuration -NANDO:2200078 Pheochromocytoma skos:exactMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:ManualMappingCuration -NANDO:2200079 Malignant thymoma skos:exactMatch MONDO:0006451 thymic carcinoma semapv:ManualMappingCuration -NANDO:2200080 Pleuropulmonaryblastoma skos:exactMatch MONDO:0011014 pleuropulmonary blastoma semapv:ManualMappingCuration -NANDO:2200081 Bronchial tumour skos:exactMatch MONDO:0002807 bronchial neoplasm semapv:ManualMappingCuration -NANDO:2200082 Pancreatoblastoma skos:exactMatch MONDO:0019035 pancreatoblastoma semapv:ManualMappingCuration -NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:ManualMappingCuration -NANDO:2200084 Pilocytic astrocytoma skos:exactMatch MONDO:0016691 pilocytic astrocytoma semapv:ManualMappingCuration -NANDO:2200085 Diffuse astrocytoma skos:exactMatch MONDO:0016686 diffuse astrocytoma semapv:ManualMappingCuration -NANDO:2200086 Anaplastic astrocytoma skos:exactMatch MONDO:0016684 anaplastic astrocytoma semapv:ManualMappingCuration -NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0018177 glioblastoma semapv:ManualMappingCuration -NANDO:2200087 Glioblastoma skos:exactMatch MONDO:0020690 adult glioblastoma semapv:ManualMappingCuration -NANDO:2200088 Ependymoma skos:exactMatch MONDO:0016698 ependymoma semapv:ManualMappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002540 childhood oligodendroglioma semapv:ManualMappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0002543 adult oligodendroglioma semapv:ManualMappingCuration -NANDO:2200089 Oligodendroglioma skos:exactMatch MONDO:0016695 oligodendroglioma semapv:ManualMappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002794 adult medulloblastoma semapv:ManualMappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0002797 childhood medulloblastoma semapv:ManualMappingCuration -NANDO:2200090 Medulloblastoma skos:exactMatch MONDO:0007959 medulloblastoma semapv:ManualMappingCuration -NANDO:2200091 Craniopharyngioma skos:exactMatch MONDO:0018907 craniopharyngioma semapv:ManualMappingCuration -NANDO:2200092 Pineocytoma skos:exactMatch MONDO:0016723 pineocytoma semapv:ManualMappingCuration -NANDO:2200093 Choroid plexus papilloma skos:exactMatch MONDO:0009837 choroid plexus papilloma semapv:ManualMappingCuration -NANDO:2200094 Meningioma skos:exactMatch MONDO:0003057 pediatric meningioma semapv:ManualMappingCuration -NANDO:2200094 Meningioma skos:exactMatch MONDO:0016642 meningioma semapv:ManualMappingCuration -NANDO:2200095 Pituitary adenoma skos:exactMatch MONDO:0006373 pituitary gland adenoma semapv:ManualMappingCuration -NANDO:2200096 Ganglioglioma skos:exactMatch MONDO:0016733 ganglioglioma semapv:ManualMappingCuration -NANDO:2200097 Gangliocytoma skos:exactMatch MONDO:0016730 gangliocytoma semapv:ManualMappingCuration -NANDO:2200098 Chordoma skos:exactMatch MONDO:0008978 chordoma semapv:ManualMappingCuration -NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration -NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:exactMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration -NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:exactMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:ManualMappingCuration -NANDO:2200102 Malignant neurinoma skos:exactMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:ManualMappingCuration -NANDO:2200103 Neurinoma skos:exactMatch MONDO:0002546 schwannoma semapv:ManualMappingCuration -NANDO:2200104 Teratoma of the central nervous system skos:exactMatch MONDO:0002718 central nervous system teratoma semapv:ManualMappingCuration -NANDO:2200105 Mature teratoma skos:exactMatch MONDO:0003517 mature teratoma semapv:ManualMappingCuration -NANDO:2200106 Immature teratoma skos:exactMatch MONDO:0024746 immature teratoma semapv:ManualMappingCuration -NANDO:2200107 Teratoma with malignant transformation skos:exactMatch MONDO:0006444 teratoma with malignant transformation semapv:ManualMappingCuration -NANDO:2200108 Intracranial germ cell tumour skos:exactMatch MONDO:0004218 childhood germ cell brain tumor semapv:ManualMappingCuration -NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:exactMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:ManualMappingCuration -NANDO:2200112 Minimal change nephrotic syndrome skos:exactMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration -NANDO:2200113 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration -NANDO:2200114 Membranous nephropathy skos:exactMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration -NANDO:2200116 Denys-Drash syndrome skos:exactMatch MONDO:0008682 Denys-Drash syndrome semapv:ManualMappingCuration -NANDO:2200117 Pierson syndrome skos:exactMatch MONDO:0012184 Pierson syndrome semapv:ManualMappingCuration -NANDO:2200118 Central nervous system malformation syndrome skos:exactMatch MONDO:0020022 central nervous system malformation semapv:ManualMappingCuration -NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration -NANDO:2200120 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration -NANDO:2200121 IgA nephropathy skos:exactMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration -NANDO:2200122 Mesangial proliferative glomerulonephritis skos:exactMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:2200123 Membranoproliferative glomerulonephritis skos:exactMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration -NANDO:2200125 Goodpasture syndrome skos:exactMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration -NANDO:2200126 Alport syndrome skos:exactMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration -NANDO:2200127 Epstein syndrome skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration -NANDO:2200128 Lupus nephritis skos:exactMatch MONDO:0005556 lupus nephritis semapv:ManualMappingCuration -NANDO:2200131 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration -NANDO:2200132 Nail-patella syndrome skos:exactMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration -NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:exactMatch MONDO:0007671 fibronectin glomerulopathy semapv:ManualMappingCuration -NANDO:2200134 Lipoprotein glomerulopathy skos:exactMatch MONDO:0012725 lipoprotein glomerulopathy semapv:ManualMappingCuration -NANDO:2200136 Tubulointerstitial nephritis skos:exactMatch MONDO:0001085 interstitial nephritis semapv:ManualMappingCuration -NANDO:2200137 Chronic pyelonephritis skos:exactMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration -NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0019065 amyloidosis semapv:ManualMappingCuration -NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:exactMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration -NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration -NANDO:2200140 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration -NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration -NANDO:2200141 Renovascular hypertension skos:exactMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration -NANDO:2200144 Renal tubular acidosis skos:exactMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration -NANDO:2200145 Gitelman syndrome skos:exactMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration -NANDO:2200146 Bartter syndrome skos:exactMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration -NANDO:2200152 Polycystic kidney disease skos:exactMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration -NANDO:2200153 Autosomal dominant polycystic kidney disease skos:exactMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration -NANDO:2200154 Autosomal recessive polycystic kidney disease skos:exactMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration -NANDO:2200155 Hypoplastic kidney skos:exactMatch MONDO:0019637 renal hypoplasia semapv:ManualMappingCuration -NANDO:2200156 Renal aplasia skos:exactMatch MONDO:0018470 renal agenesis semapv:ManualMappingCuration -NANDO:2200157 Potter syndrome skos:exactMatch MONDO:0001558 Potter sequence semapv:ManualMappingCuration -NANDO:2200158 Multicystic dysplastic kidney skos:exactMatch MONDO:0015988 multicystic dysplastic kidney semapv:ManualMappingCuration -NANDO:2200159 Oligomeganephronia skos:exactMatch MONDO:0016407 oligomeganephronia semapv:ManualMappingCuration -NANDO:2200161 Renal dysplasia skos:exactMatch MONDO:0019638 renal dysplasia semapv:ManualMappingCuration -NANDO:2200170 Medullary cystic kidney skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration -NANDO:2200171 Multilocular cysts of the kidney skos:exactMatch MONDO:0019983 multiloculated renal cyst semapv:ManualMappingCuration -NANDO:2200172 Simple renal cyst skos:exactMatch MONDO:0002473 cystic kidney disease semapv:ManualMappingCuration -NANDO:2200173 Medullary sponge kidney skos:exactMatch MONDO:0015268 medullary sponge kidney semapv:ManualMappingCuration -NANDO:2200176 Ureteropelvic junction obstruction skos:exactMatch MONDO:0007741 congenital hydronephrosis semapv:ManualMappingCuration -NANDO:2200177 Megacalycosis skos:exactMatch MONDO:0019639 congenital megacalycosis semapv:ManualMappingCuration -NANDO:2200178 Obstructive uropathy skos:exactMatch MONDO:0003330 urinary tract obstruction semapv:ManualMappingCuration -NANDO:2200179 Vesicoureteral reflux skos:exactMatch MONDO:0006007 vesicoureteral reflux semapv:ManualMappingCuration -NANDO:2200183 Ureteroceles skos:exactMatch MONDO:0008628 ureterocele semapv:ManualMappingCuration -NANDO:2200184 Megaureter skos:exactMatch MONDO:0018960 congenital primary megaureter semapv:ManualMappingCuration -NANDO:2200185 Prune belly syndrome skos:exactMatch MONDO:0007032 prune belly syndrome semapv:ManualMappingCuration -NANDO:2200187 Fanconi syndrome skos:exactMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration -NANDO:2200188 Lowe syndrome skos:exactMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration -NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration -NANDO:2200194 Tracheal stenosis skos:exactMatch MONDO:0002568 tracheal stenosis semapv:ManualMappingCuration -NANDO:2200195 Tracheomalacia skos:exactMatch MONDO:0019804 tracheomalacia semapv:ManualMappingCuration -NANDO:2200198 Congenital central hypoventilation syndrome skos:exactMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration -NANDO:2200199 Idiopathic interstitial pneumonia skos:exactMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration -NANDO:2200200 Congenital alveolar proteinosis skos:exactMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration -NANDO:2200202 Pulmonary alveolar microlithiasis skos:exactMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:ManualMappingCuration -NANDO:2200203 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration -NANDO:2200204 Kartagener syndrome skos:exactMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration -NANDO:2200205 Cystic fibrosis skos:exactMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration -NANDO:2200206 Bronchiectasis skos:exactMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration -NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration -NANDO:2200209 Bronchiolitis obliterans skos:exactMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration -NANDO:2200210 Congenital diaphragmatic hernia skos:exactMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration -NANDO:2200212 Sick sinus syndrome skos:exactMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration -NANDO:2200213 Mobitz type II second degree atrioventricular block skos:exactMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration -NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0000468 third-degree atrioventricular block semapv:ManualMappingCuration -NANDO:2200215 Bundle branch block skos:exactMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration -NANDO:2200216 Polymorphic ventricular premature beat skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration -NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:exactMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:ManualMappingCuration -NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005479 atrial tachycardia semapv:ManualMappingCuration -NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:exactMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration -NANDO:2200225 Atrial flutter skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration -NANDO:2200226 Atrial fibrillation skos:exactMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration -NANDO:2200227 Ventricular fibrillation skos:exactMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration -NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration -NANDO:2200228 Long qt syndrome skos:exactMatch MONDO:0019171 familial long QT syndrome semapv:ManualMappingCuration -NANDO:2200229 Hypertrophic cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:exactMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration -NANDO:2200231 Non-compaction of the ventricle skos:exactMatch MONDO:0018901 left ventricular noncompaction semapv:ManualMappingCuration -NANDO:2200232 Dilated cardiomyopathy skos:exactMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration -NANDO:2200233 Restrictive cardiomyopathy skos:exactMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration -NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0006779 heart aneurysm semapv:ManualMappingCuration -NANDO:2200234 Aneurysm of ventricle skos:exactMatch MONDO:0015677 cardiac diverticulum semapv:ManualMappingCuration -NANDO:2200235 Endocardial fibroelastosis skos:exactMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration -NANDO:2200236 Cardiac tumor skos:exactMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration -NANDO:2200239 Constrictive pericarditis skos:exactMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration -NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:exactMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:ManualMappingCuration -NANDO:2200246 Stenosis or atresia of coronary artery skos:exactMatch MONDO:0006715 coronary stenosis semapv:ManualMappingCuration -NANDO:2200248 Myocardial infarction skos:exactMatch MONDO:0005068 myocardial infarction semapv:ManualMappingCuration -NANDO:2200249 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration -NANDO:2200250 Single ventricle skos:exactMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration -NANDO:2200251 Tricuspid atresia skos:exactMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration -NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration -NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:exactMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration -NANDO:2200254 Tetralogy of Fallot skos:exactMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration -NANDO:2200256 Double outlet right ventricle skos:exactMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration -NANDO:2200257 Double-outlet left ventricle skos:exactMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration -NANDO:2200258 Complete transposition of the great arteries skos:exactMatch MONDO:0000153 transposition of the great arteries semapv:ManualMappingCuration -NANDO:2200259 Congenitally corrected transposition of the great arteries skos:exactMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration -NANDO:2200260 Ebstein's anomaly skos:exactMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration -NANDO:2200262 Aorto-pulmonary window skos:exactMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration -NANDO:2200263 Cor triatriatum skos:exactMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration -NANDO:2200264 Patent ductus arteriosus skos:exactMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration -NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:ManualMappingCuration -NANDO:2200266 Atrial septal defect, ostium secundum type skos:exactMatch MONDO:0020439 patent foramen ovale semapv:ManualMappingCuration -NANDO:2200267 Atrial septal defect, sinus venosus type skos:exactMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:ManualMappingCuration -NANDO:2200268 Incomplete atrioventricular septal defect skos:exactMatch MONDO:0015275 partial atrioventricular canal semapv:ManualMappingCuration -NANDO:2200269 Complete atrioventricular septal defect skos:exactMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration -NANDO:2200270 Ventricular septal defect skos:exactMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration -NANDO:2200271 Total anomalous pulmonary venous connection skos:exactMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:ManualMappingCuration -NANDO:2200272 Partial anomalous pulmonary venous connection skos:exactMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:ManualMappingCuration -NANDO:2200273 Pulmonary venous obstruction skos:exactMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration -NANDO:2200274 Left ventricular-right atrial communication skos:exactMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration -NANDO:2200275 Double-chambered right ventricle skos:exactMatch MONDO:0016581 conotruncal heart malformations semapv:ManualMappingCuration -NANDO:2200276 Subvalvular pulmonary stenosis skos:exactMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration -NANDO:2200277 Subvalvular aortic stenosis skos:exactMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration -NANDO:2200278 Supravalvular pulmonary stenosis skos:exactMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:ManualMappingCuration -NANDO:2200280 Absent pulmonary valve skos:exactMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration -NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:exactMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:ManualMappingCuration -NANDO:2200282 Unilateral absence of a pulmonary artery skos:exactMatch MONDO:0020007 absence of the pulmonary artery semapv:ManualMappingCuration -NANDO:2200283 Coarctation of the aorta skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration -NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration -NANDO:2200285 Supravalvular aortic stenosis skos:exactMatch MONDO:0008504 supravalvular aortic stenosis semapv:ManualMappingCuration -NANDO:2200286 Williams syndrome skos:exactMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration -NANDO:2200288 Interruption of aortic arch complex skos:exactMatch MONDO:0009010 aortic arch interruption semapv:ManualMappingCuration -NANDO:2200290 Double aortic arch disease skos:exactMatch MONDO:0020413 encircling double aortic arch semapv:ManualMappingCuration -NANDO:2200293 Aneurysm of sinus valsalva skos:exactMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:ManualMappingCuration -NANDO:2200294 Aortic aneurysm skos:exactMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration -NANDO:2200295 Pulmonary arteriovenous fistulae skos:exactMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:ManualMappingCuration -NANDO:2200296 Coronary artery fistula skos:exactMatch MONDO:0016081 coronary arterial fistulas semapv:ManualMappingCuration -NANDO:2200298 Pulmonary arterial hypertension skos:exactMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:2200299 Chronic cor pulmonale skos:exactMatch MONDO:0001493 chronic pulmonary heart disease semapv:ManualMappingCuration -NANDO:2200300 Tricuspid valve stenosis skos:exactMatch MONDO:0005997 tricuspid valve stenosis semapv:ManualMappingCuration -NANDO:2200301 Tricuspid valve regurgitation skos:exactMatch MONDO:0002870 tricuspid valve insufficiency semapv:ManualMappingCuration -NANDO:2200302 Mitral valve stenosis skos:exactMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration -NANDO:2200303 Mitral regurgitation skos:exactMatch MONDO:0001298 congenital mitral valve insufficiency semapv:ManualMappingCuration -NANDO:2200304 Pulmonary valve stenosis skos:exactMatch MONDO:0006936 pulmonary valve stenosis semapv:ManualMappingCuration -NANDO:2200305 Pulmonary valve regurgitation skos:exactMatch MONDO:0001927 pulmonary valve insufficiency semapv:ManualMappingCuration -NANDO:2200306 Aortic valve stenosis skos:exactMatch MONDO:0042981 aortic valve stenosis semapv:ManualMappingCuration -NANDO:2200307 Aortic valve regurgitation skos:exactMatch MONDO:0005648 aortic valve insufficiency semapv:ManualMappingCuration -NANDO:2200308 Supramitral ring skos:exactMatch MONDO:0020400 congenital supravalvular mitral ring semapv:ManualMappingCuration -NANDO:2200312 Congenital hypopituitarism skos:exactMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:ManualMappingCuration -NANDO:2200313 Acquired hypopituitarism skos:exactMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:ManualMappingCuration -NANDO:2200314 Pituitary gigantism skos:exactMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration -NANDO:2200315 Acromegaly skos:exactMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration -NANDO:2200317 Congenital growth hormone deficiency skos:exactMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:ManualMappingCuration -NANDO:2200320 IGF1 insensitivity skos:exactMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:ManualMappingCuration -NANDO:2200321 Growth hormone insensitivity skos:exactMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration -NANDO:2200322 Hyperprolactinemia skos:exactMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration -NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:exactMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration -NANDO:2200324 Central diabetes insipidus skos:exactMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration -NANDO:2200325 Adipsic hypernatremia skos:exactMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:ManualMappingCuration -NANDO:2200326 Nephrogenic diabetes insipidus skos:exactMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration -NANDO:2200328 Basedow disease skos:exactMatch MONDO:0005364 Graves disease semapv:ManualMappingCuration -NANDO:2200329 Hyperthyroidism skos:exactMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration -NANDO:2200330 Ectoic thyroid skos:exactMatch MONDO:0019854 thyroid ectopia semapv:ManualMappingCuration -NANDO:2200331 Thyroid agenesis skos:exactMatch MONDO:0019855 athyreosis semapv:ManualMappingCuration -NANDO:2200332 Thyroid-stimulating hormone deficiency skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration -NANDO:2200333 Congenital hypothyroidism skos:exactMatch MONDO:0018612 congenital hypothyroidism semapv:ManualMappingCuration -NANDO:2200335 Hashimoto disease skos:exactMatch MONDO:0007699 Hashimoto thyroiditis semapv:ManualMappingCuration -NANDO:2200336 Atrophic thyroiditis skos:exactMatch MONDO:0005624 atrophic thyroiditis semapv:ManualMappingCuration -NANDO:2200340 Central hypothyroidism skos:exactMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration -NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration -NANDO:2200341 Resistance to thyroid hormone skos:exactMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration -NANDO:2200343 Hyperparathyroidism skos:exactMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration -NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration -NANDO:2200345 Hypoparathyroidism skos:exactMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration -NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration -NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:exactMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:ManualMappingCuration -NANDO:2200348 Pseudopseudohypoparathyroidism skos:exactMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:ManualMappingCuration -NANDO:2200349 Pseudohypoparathyroidism skos:exactMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration -NANDO:2200350 Cushing disease skos:exactMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration -NANDO:2200351 Ectopic ACTH syndrome skos:exactMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:ManualMappingCuration -NANDO:2200352 Adrenal adenoma skos:exactMatch MONDO:0003924 adrenal cortex adenoma semapv:ManualMappingCuration -NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration -NANDO:2200357 Congenital adrenal hypoplasia skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:2200358 Glucocorticoid resistance skos:exactMatch MONDO:0014421 glucocorticoid resistance semapv:ManualMappingCuration -NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration -NANDO:2200359 Other chronic adrenal insufficiency skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration -NANDO:2200360 Addison's disease skos:exactMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration -NANDO:2200360 Addison's disease skos:exactMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration -NANDO:2200361 Aldosteronism skos:exactMatch MONDO:0001422 primary aldosteronism semapv:ManualMappingCuration -NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration -NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:exactMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration -NANDO:2200363 Liddle syndrome skos:exactMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration -NANDO:2200365 Aldosterone synthase deficiency skos:exactMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:ManualMappingCuration -NANDO:2200367 Pseudohypoaldosteronism skos:exactMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration -NANDO:2200368 Pseudohypoaldosteronism type I skos:exactMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:ManualMappingCuration -NANDO:2200369 Pseudohypoaldosteronism type II skos:exactMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:ManualMappingCuration -NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:exactMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration -NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200372 11-β-Hydroxylase deficiency skos:exactMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:2200373 17 alpha-hydroxylase deficiency skos:exactMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:2200375 P450 oxidoreductase deficiency skos:exactMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration -NANDO:2200377 Gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration -NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:exactMatch MONDO:0015791 peripheral precocious puberty semapv:ManualMappingCuration -NANDO:2200379 Hyperestrogenism skos:exactMatch MONDO:0001946 obsolete hyperestrogenism semapv:ManualMappingCuration -NANDO:2200380 Hyperandrogenism skos:exactMatch MONDO:0001324 obsolete hyperandrogenism semapv:ManualMappingCuration -NANDO:2200381 Kallmann syndrome skos:exactMatch MONDO:0018800 Kallmann syndrome semapv:ManualMappingCuration -NANDO:2200382 Hypogonadotropic hypogonadism skos:exactMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration -NANDO:2200383 Testicular dysgenesis skos:exactMatch MONDO:0005437 testicular dysgenesis syndrome semapv:ManualMappingCuration -NANDO:2200386 Klinefelter syndrome skos:exactMatch MONDO:0006823 Klinefelter syndrome semapv:ManualMappingCuration -NANDO:2200387 Ovotesticular dsd skos:exactMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:ManualMappingCuration -NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0001969 mixed gonadal dysgenesis semapv:ManualMappingCuration -NANDO:2200388 Mixed gonadal dysgenesis skos:exactMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:ManualMappingCuration -NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:ManualMappingCuration -NANDO:2200391 Androgen insensitivity syndrome skos:exactMatch MONDO:0019154 androgen insensitivity syndrome semapv:ManualMappingCuration -NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020040 46,XY disorder of sex development semapv:ManualMappingCuration -NANDO:2200393 Disorders of sex development of 46,XX skos:exactMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:ManualMappingCuration -NANDO:2200394 Vipoma skos:exactMatch MONDO:0019960 VIPoma semapv:ManualMappingCuration -NANDO:2200395 Gastrinoma skos:exactMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:ManualMappingCuration -NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0005369 carcinoid tumor semapv:ManualMappingCuration -NANDO:2200396 Carcinoid syndrome skos:exactMatch MONDO:0006689 obsolete carcinoid syndrome semapv:ManualMappingCuration -NANDO:2200397 Glucagonoma skos:exactMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration -NANDO:2200398 Insulinoma skos:exactMatch MONDO:0024677 pancreatic insulinoma semapv:ManualMappingCuration -NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration -NANDO:2200399 Congenital hyperinsulinemia skos:exactMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration -NANDO:2200401 Vitamin D-dependent rickets skos:exactMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration -NANDO:2200402 Vitamin D-resistant osteomalacia skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:2200403 Primary hypophosphatemic rickets skos:exactMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration -NANDO:2200404 Lipodystrophy skos:exactMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration -NANDO:2200405 Multiple endocrine neoplasia type 1 skos:exactMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:ManualMappingCuration -NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration -NANDO:2200406 Multiple endocrine neoplasia type 2 skos:exactMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:ManualMappingCuration -NANDO:2200408 Von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration -NANDO:2200409 Polycystic ovary syndrome skos:exactMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration -NANDO:2200410 Turner syndrome skos:exactMatch MONDO:0019499 Turner syndrome semapv:ManualMappingCuration -NANDO:2200411 Prader-Willi syndrome skos:exactMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration -NANDO:2200412 McCune-Albright syndrome skos:exactMatch MONDO:0018919 McCune-Albright syndrome semapv:ManualMappingCuration -NANDO:2200413 Noonan syndrome skos:exactMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration -NANDO:2200414 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 Bardet-Biedl syndrome semapv:ManualMappingCuration -NANDO:2200415 Juvenile idiopathic arthritis skos:exactMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2200416 Systemic lupus erythematosus skos:exactMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration -NANDO:2200418 Juvenile dermatomyositis skos:exactMatch MONDO:0008054 juvenile dermatomyositis semapv:ManualMappingCuration -NANDO:2200419 Juvenile polymyositis skos:exactMatch MONDO:0019734 juvenile polymyositis semapv:ManualMappingCuration -NANDO:2200420 Sjogren's syndrome skos:exactMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration -NANDO:2200421 Anti-phospholipid antibody syndrome skos:exactMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration -NANDO:2200422 Behcet's disease skos:exactMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration -NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0006656 aortitis semapv:ManualMappingCuration -NANDO:2200423 Takayasu arteritis skos:exactMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration -NANDO:2200424 Granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:2200426 Microscopic polyangiitis skos:exactMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration -NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:exactMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration -NANDO:2200428 Relapsing polychondritis skos:exactMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration -NANDO:2200429 Systemic sclerosis skos:exactMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration -NANDO:2200430 Mixed connective tissue disease skos:exactMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration -NANDO:2200431 Familial Mediterranean fever skos:exactMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration -NANDO:2200432 Cryopyrin-associated periodic syndrome skos:exactMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration -NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:exactMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration -NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:exactMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration -NANDO:2200435 Nakajo-Nishimura syndrome skos:exactMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration -NANDO:2200436 Hyper IgD syndrome skos:exactMatch MONDO:0017708 mevalonate kinase deficiency semapv:ManualMappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0004471 bacterial arthritis semapv:ManualMappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration -NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:exactMatch MONDO:0018824 pyoderma gangrenosum semapv:ManualMappingCuration -NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration -NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:exactMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:ManualMappingCuration -NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration -NANDO:2200443 CARD14 deficiency skos:exactMatch MONDO:0011269 psoriasis 2 semapv:ManualMappingCuration -NANDO:2200444 Cherubism skos:exactMatch MONDO:0007315 cherubism semapv:ManualMappingCuration -NANDO:2200446 IL10 deficiency skos:exactMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:ManualMappingCuration -NANDO:2200447 IL-10RA deficiency skos:exactMatch MONDO:0013153 inflammatory bowel disease 28 semapv:ManualMappingCuration -NANDO:2200448 IL-10RB deficiency skos:exactMatch MONDO:0012941 inflammatory bowel disease 25 semapv:ManualMappingCuration -NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration -NANDO:2200449 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2200451 PLCg2 deficiency skos:exactMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration -NANDO:2200452 IL36RN deficiency skos:exactMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration -NANDO:2200453 Majeed syndrome skos:exactMatch MONDO:0012316 Majeed syndrome semapv:ManualMappingCuration -NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration -NANDO:2200454 NLRP12-associated periodic syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:exactMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:ManualMappingCuration -NANDO:2200456 RBCK1 deficiency skos:exactMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:ManualMappingCuration -NANDO:2200457 SLC29A3 deficiency skos:exactMatch MONDO:0011273 H syndrome semapv:ManualMappingCuration -NANDO:2200458 A20 haploinsufficiency skos:exactMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration -NANDO:2200460 Diabetes mellitus type 1 skos:exactMatch MONDO:0005147 type 1 diabetes mellitus semapv:ManualMappingCuration -NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0005148 type 2 diabetes mellitus semapv:ManualMappingCuration -NANDO:2200461 Diabetes mellitus type 2 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration -NANDO:2200462 Maturity-onset diabetes of the young skos:exactMatch MONDO:0018911 maturity-onset diabetes of the young semapv:ManualMappingCuration -NANDO:2200463 Neonatal diabetes mellitus skos:exactMatch MONDO:0016391 neonatal diabetes mellitus semapv:ManualMappingCuration -NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0005827 lipoatrophic diabetes semapv:ManualMappingCuration -NANDO:2200465 Lipoatrophic diabetes skos:exactMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration -NANDO:2200467 Phenylketonuria skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration -NANDO:2200468 Tyrosinemia type 1 skos:exactMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration -NANDO:2200469 Tyrosinemia type 2 skos:exactMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration -NANDO:2200470 Tyrosinemia type 3 skos:exactMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration -NANDO:2200471 Hyperprolinemia skos:exactMatch MONDO:0023419 hyperprolinemia semapv:ManualMappingCuration -NANDO:2200472 Prolidase deficiency skos:exactMatch MONDO:0008221 prolidase deficiency semapv:ManualMappingCuration -NANDO:2200473 Maple syrup urine disease skos:exactMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration -NANDO:2200474 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration -NANDO:2200475 Hypermethioninemia skos:exactMatch MONDO:0000351 disorder of methionine catabolism semapv:ManualMappingCuration -NANDO:2200476 Nonketotic hyperglycinemia skos:exactMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration -NANDO:2200477 N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration -NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:exactMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration -NANDO:2200479 Ornithine transcarbamylase deficiency skos:exactMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration -NANDO:2200480 Argininosuccinate synthetase deficiency skos:exactMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration -NANDO:2200481 Argininosuccinic aciduria skos:exactMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration -NANDO:2200482 Hyperargininemia skos:exactMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration -NANDO:2200483 Citrin deficiency skos:exactMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration -NANDO:2200484 Hyperornithinemia skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration -NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:exactMatch MONDO:0009393 ornithine translocase deficiency semapv:ManualMappingCuration -NANDO:2200486 Gyrate atrophy of choroid and retina skos:exactMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration -NANDO:2200487 Hartnup disease skos:exactMatch MONDO:0009324 Hartnup disease semapv:ManualMappingCuration -NANDO:2200488 Lysinuric protein intolerance skos:exactMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration -NANDO:2200489 Cystinuria skos:exactMatch MONDO:0009067 cystinuria semapv:ManualMappingCuration -NANDO:2200491 Methylmalonic acidemia skos:exactMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration -NANDO:2200492 Propionic acidemia skos:exactMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration -NANDO:2200493 Beta-ketothiolase deficiency skos:exactMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration -NANDO:2200494 Isovaleric acidemia skos:exactMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration -NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:ManualMappingCuration -NANDO:2200496 Methylglutaconic aciduria skos:exactMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration -NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration -NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:ManualMappingCuration -NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:ManualMappingCuration -NANDO:2200500 Multiple carboxylase deficiency skos:exactMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration -NANDO:2200501 Glutaric acidemia type 1 skos:exactMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200502 Glutaric acidemia type 2 skos:exactMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200503 Primary hyperoxaluria skos:exactMatch MONDO:0002474 primary hyperoxaluria semapv:ManualMappingCuration -NANDO:2200504 Alkaptonuria skos:exactMatch MONDO:0008753 alkaptonuria semapv:ManualMappingCuration -NANDO:2200505 Glycerol kinase deficiency skos:exactMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:ManualMappingCuration -NANDO:2200506 Inborn errors of bile acid metabolism skos:exactMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:ManualMappingCuration -NANDO:2200508 Organic cation transporter 2 deficiency skos:exactMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration -NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:exactMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration -NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration -NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:exactMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration -NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200515 Trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration -NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200519 Pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:ManualMappingCuration -NANDO:2200520 Fumarase deficiency skos:exactMatch MONDO:0011730 fumaric aciduria semapv:ManualMappingCuration -NANDO:2200522 Mitochondrial respiratory chain disorders skos:exactMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:ManualMappingCuration -NANDO:2200523 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration -NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:exactMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:ManualMappingCuration -NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:exactMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration -NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:exactMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration -NANDO:2200527 Leigh syndrome skos:exactMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration -NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:exactMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration -NANDO:2200529 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration -NANDO:2200531 Hereditary fructose intolerance skos:exactMatch MONDO:0009249 hereditary fructose intolerance semapv:ManualMappingCuration -NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:exactMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration -NANDO:2200533 Galactokinase deficiency skos:exactMatch MONDO:0009255 galactokinase deficiency semapv:ManualMappingCuration -NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:exactMatch MONDO:0009257 galactose epimerase deficiency semapv:ManualMappingCuration -NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:exactMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:ManualMappingCuration -NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:exactMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:ManualMappingCuration -NANDO:2200537 Glycogen synthase deficiency skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:2200538 Glycogen storage disease type I skos:exactMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration -NANDO:2200539 Glycogen storage disease type III skos:exactMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration -NANDO:2200540 Glycogen storage disease type IV skos:exactMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration -NANDO:2200541 Glycogen storage disease type V skos:exactMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration -NANDO:2200542 Glycogen storage disease type VI skos:exactMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration -NANDO:2200543 Glycogen storage disease type VII skos:exactMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration -NANDO:2200544 Glycogen storage disease type IX skos:exactMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration -NANDO:2200545 Glucose transporter 1 deficiency skos:exactMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration -NANDO:2200547 Mucopolysaccharidosis type I skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration -NANDO:2200548 Mucopolysaccharidosis type II skos:exactMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration -NANDO:2200549 Mucopolysaccharidosis type III skos:exactMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration -NANDO:2200550 Mucopolysaccharidosis type IV skos:exactMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration -NANDO:2200551 Mucopolysaccharidosis type VI skos:exactMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration -NANDO:2200552 Mucopolysaccharidosis type VII skos:exactMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration -NANDO:2200553 Fucosidosis skos:exactMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration -NANDO:2200555 Aspartylglucosaminuria skos:exactMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration -NANDO:2200556 Sialidosis skos:exactMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration -NANDO:2200557 Galactosialidosis skos:exactMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration -NANDO:2200558 GM1 Gangliosidosis skos:exactMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration -NANDO:2200559 GM2 gangliosidosis skos:exactMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration -NANDO:2200560 Metachromatic leukodystrophy skos:exactMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration -NANDO:2200561 Niemann-Pick disease skos:exactMatch MONDO:0001982 Niemann-Pick disease semapv:ManualMappingCuration -NANDO:2200562 Gaucher disease skos:exactMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration -NANDO:2200563 Fabry disease skos:exactMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration -NANDO:2200564 Krabbe disease skos:exactMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration -NANDO:2200565 Farber disease skos:exactMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration -NANDO:2200566 Multiple sulfatase deficiency skos:exactMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration -NANDO:2200567 Mucolipidosis II skos:exactMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration -NANDO:2200568 Mucolipidosis III skos:exactMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration -NANDO:2200569 Pompe disease skos:exactMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration -NANDO:2200570 Acid lipase deficiency skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration -NANDO:2200571 Cystinosis skos:exactMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration -NANDO:2200572 Free Sialic Acid Storage Disease skos:exactMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration -NANDO:2200573 Neuronal ceroid lipofuscinoses skos:exactMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2200575 Peroxisome biogenesis disorders skos:exactMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration -NANDO:2200576 Adrenoleukodystrophy skos:exactMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:2200577 Refsum disease skos:exactMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration -NANDO:2200579 Wilson disease skos:exactMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration -NANDO:2200580 Menkes disease skos:exactMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration -NANDO:2200581 Occipital horn syndrome skos:exactMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration -NANDO:2200582 Aceruloplasminemia skos:exactMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration -NANDO:2200583 Sulfite oxidase deficiency skos:exactMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:ManualMappingCuration -NANDO:2200584 Acrodermatitis enteropathica skos:exactMatch MONDO:0008713 acrodermatitis enteropathica semapv:ManualMappingCuration -NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:ManualMappingCuration -NANDO:2200586 Lesch-Nyhan syndrome skos:exactMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:ManualMappingCuration -NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:exactMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:ManualMappingCuration -NANDO:2200588 Xanthinuria skos:exactMatch MONDO:0000721 xanthinuria semapv:ManualMappingCuration -NANDO:2200590 Orotic aciduria skos:exactMatch MONDO:0009797 orotic aciduria semapv:ManualMappingCuration -NANDO:2200592 Hereditary folate malabsorption skos:exactMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration -NANDO:2200594 Tetrahydrobiopterin deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration -NANDO:2200595 Tyrosine hydroxylase deficiency skos:exactMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:ManualMappingCuration -NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:exactMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration -NANDO:2200597 Dopamine beta hydroxylase deficiency skos:exactMatch MONDO:0009123 orthostatic hypotension 1 semapv:ManualMappingCuration -NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:exactMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:ManualMappingCuration -NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:exactMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0005439 familial hypercholesterolemia semapv:ManualMappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:ManualMappingCuration -NANDO:2200602 Familial hypercholesterolemia skos:exactMatch MONDO:0016525 familial hyperaldosteronism semapv:ManualMappingCuration -NANDO:2200604 Abetalipoproteinemia skos:exactMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration -NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0017773 hypoalphalipoproteinemia semapv:ManualMappingCuration -NANDO:2200607 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration -NANDO:2200608 Lipoid proteinosis skos:exactMatch MONDO:0009530 lipoid proteinosis semapv:ManualMappingCuration -NANDO:2200611 Alpha-1-antitrypsin deficiency skos:exactMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration -NANDO:2200612 Megaloblastic anemia skos:exactMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration -NANDO:2200614 Congenital red cell aplasia skos:exactMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration -NANDO:2200615 Congenital dyserythropoietic anemia skos:exactMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration -NANDO:2200616 Sideroblastic anemia skos:exactMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration -NANDO:2200617 Congenital atransferrinemia skos:exactMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration -NANDO:2200618 Cold agglutinin disease skos:exactMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration -NANDO:2200619 Paroxysmal cold hemoglobinuria skos:exactMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration -NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration -NANDO:2200622 Hereditary spherocytosis skos:exactMatch MONDO:0019350 hereditary spherocytosis semapv:ManualMappingCuration -NANDO:2200623 Hereditary stomatocytosis skos:exactMatch MONDO:0020102 hereditary stomatocytosis semapv:ManualMappingCuration -NANDO:2200624 Sickle cell disease skos:exactMatch MONDO:0011382 sickle cell anemia semapv:ManualMappingCuration -NANDO:2200625 Unstable hemoglobin disease skos:exactMatch MONDO:0020459 unstable hemoglobin disease semapv:ManualMappingCuration -NANDO:2200626 Thalassemia skos:exactMatch MONDO:0000984 thalassemia semapv:ManualMappingCuration -NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:exactMatch MONDO:0005775 G6PD deficiency semapv:ManualMappingCuration -NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:exactMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:ManualMappingCuration -NANDO:2200630 Hereditary elliptocytosis skos:exactMatch MONDO:0017319 hereditary elliptocytosis semapv:ManualMappingCuration -NANDO:2200631 Hereditary pyropoikilocytosis skos:exactMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:ManualMappingCuration -NANDO:2200633 Stomatocytic xerocytosis skos:exactMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:ManualMappingCuration -NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:exactMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:ManualMappingCuration -NANDO:2200635 Hemoglobin C disease skos:exactMatch MONDO:0016242 hemoglobin C disease semapv:ManualMappingCuration -NANDO:2200636 Hemolytic anemia skos:exactMatch MONDO:0003664 hemolytic anemia semapv:ManualMappingCuration -NANDO:2200637 Hypersplenism skos:exactMatch MONDO:0006795 hypersplenism semapv:ManualMappingCuration -NANDO:2200639 Disseminated intravascular coagulation skos:exactMatch MONDO:0001243 disseminated intravascular coagulation semapv:ManualMappingCuration -NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:exactMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:ManualMappingCuration -NANDO:2200641 Atypical hemolytic uremic syndrome skos:exactMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration -NANDO:2200643 Polycythemia vera skos:exactMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration -NANDO:2200644 Familial polycythemia skos:exactMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration -NANDO:2200645 Immune thrombocytopenic purpura skos:exactMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:exactMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:ManualMappingCuration -NANDO:2200648 Heparin-induced thrombocytopenia skos:exactMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:ManualMappingCuration -NANDO:2200649 Thrombotic thrombocytopenic purpura skos:exactMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration -NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:ManualMappingCuration -NANDO:2200652 Fanconi anemia skos:exactMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration -NANDO:2200653 Cyclic thrombocytopenia skos:exactMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration -NANDO:2200654 May-Hegglin anomaly skos:exactMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration -NANDO:2200655 Essential thrombocythemia skos:exactMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration -NANDO:2200656 Bernard-Soulier syndrome skos:exactMatch MONDO:0009276 Bernard-Soulier syndrome semapv:ManualMappingCuration -NANDO:2200657 Thrombasthenia skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration -NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:exactMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:ManualMappingCuration -NANDO:2200661 Thrombocytopenia with absent radii skos:exactMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:ManualMappingCuration -NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:exactMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:ManualMappingCuration -NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:exactMatch MONDO:0008555 thrombocytopenia 2 semapv:ManualMappingCuration -NANDO:2200664 ITGA2B/ITGB3 mutations skos:exactMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration -NANDO:2200665 ACTN1 mutations skos:exactMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:ManualMappingCuration -NANDO:2200667 β-1 tubulin disorders skos:exactMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:ManualMappingCuration -NANDO:2200668 Platelet-type von Willebrand disease skos:exactMatch MONDO:0008332 platelet-type von Willebrand disease semapv:ManualMappingCuration -NANDO:2200669 ADP receptor deficiencies skos:exactMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:ManualMappingCuration -NANDO:2200670 Abnormalities in platelet collagen receptors skos:exactMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:ManualMappingCuration -NANDO:2200671 Scott syndrome skos:exactMatch MONDO:0009885 Scott syndrome semapv:ManualMappingCuration -NANDO:2200674 Factor V deficiency skos:exactMatch MONDO:0020586 factor V deficiency semapv:ManualMappingCuration -NANDO:2200675 Factor VII deficiency skos:exactMatch MONDO:0002244 factor VII deficiency semapv:ManualMappingCuration -NANDO:2200676 Hemophilia A skos:exactMatch MONDO:0010602 hemophilia A semapv:ManualMappingCuration -NANDO:2200677 Hemophilia B skos:exactMatch MONDO:0010604 hemophilia B semapv:ManualMappingCuration -NANDO:2200678 Factor X deficiency skos:exactMatch MONDO:0002247 factor X deficiency semapv:ManualMappingCuration -NANDO:2200679 Factor XI deficiency skos:exactMatch MONDO:0020587 factor XI deficiency semapv:ManualMappingCuration -NANDO:2200680 Factor XII deficiency skos:exactMatch MONDO:0009315 congenital factor XII deficiency semapv:ManualMappingCuration -NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0002241 factor XIII deficiency semapv:ManualMappingCuration -NANDO:2200681 Factor XIII deficiency skos:exactMatch MONDO:0018029 congenital factor XIII deficiency semapv:ManualMappingCuration -NANDO:2200682 Von Willebrand disease skos:exactMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:ManualMappingCuration -NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0012901 inherited prekallikrein deficiency semapv:ManualMappingCuration -NANDO:2200684 Congenital prekallikrein deficiency skos:exactMatch MONDO:0044744 prekallikrein deficiency semapv:ManualMappingCuration -NANDO:2200685 High molecular weight kininogen deficiency skos:exactMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:ManualMappingCuration -NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:exactMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:ManualMappingCuration -NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:exactMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:ManualMappingCuration -NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:exactMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:ManualMappingCuration -NANDO:2200689 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration -NANDO:2200690 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration -NANDO:2200692 Myelofibrosis skos:exactMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration -NANDO:2200693 Aplastic anemia skos:exactMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration -NANDO:2200694 X-linked severe combined immunodeficiency skos:exactMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration -NANDO:2200695 Reticular dysgenesis skos:exactMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration -NANDO:2200696 Adenosine deaminase deficiency skos:exactMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration -NANDO:2200697 Omenn syndrome skos:exactMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration -NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:exactMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration -NANDO:2200699 CD8 deficiency skos:exactMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration -NANDO:2200701 MHC class I deficiency skos:exactMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration -NANDO:2200702 MHC class II deficiency skos:exactMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration -NANDO:2200704 Wiskott-Aldrich syndrome skos:exactMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration -NANDO:2200705 Ataxia telangiectasia skos:exactMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration -NANDO:2200706 Nijmegen breakage syndrome skos:exactMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration -NANDO:2200707 Bloom syndrome skos:exactMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration -NANDO:2200708 ICF syndrome skos:exactMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration -NANDO:2200710 RIDDLE syndrome skos:exactMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration -NANDO:2200711 Schimke syndrome skos:exactMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration -NANDO:2200712 Thymus hypoplasia skos:exactMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration -NANDO:2200713 Hyper-IgE syndrome skos:exactMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration -NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:exactMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration -NANDO:2200715 Dyskeratosis congenita skos:exactMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration -NANDO:2200716 X-linked agammaglobulinemia skos:exactMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration -NANDO:2200717 Common variable immunodeficiency skos:exactMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration -NANDO:2200718 Hyper-IgM syndrome skos:exactMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration -NANDO:2200719 Isolated IgG subclass deficiency skos:exactMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:ManualMappingCuration -NANDO:2200720 Selective IgA deficiency skos:exactMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration -NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:exactMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration -NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:exactMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration -NANDO:2200724 Chédiak-Higashi syndrome skos:exactMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration -NANDO:2200725 X-linked lymphoproliferative syndrome skos:exactMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration -NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:exactMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration -NANDO:2200728 Perforin deficiency skos:exactMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:ManualMappingCuration -NANDO:2200729 UNC13D/Munc13-4 deficiency skos:exactMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:ManualMappingCuration -NANDO:2200730 Syntaxin 11 deficiency skos:exactMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:ManualMappingCuration -NANDO:2200731 STXBP2/Munc18-2 deficiency skos:exactMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:ManualMappingCuration -NANDO:2200732 Griscelli syndrome type 2 skos:exactMatch MONDO:0011872 Griscelli syndrome type 2 semapv:ManualMappingCuration -NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:exactMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:ManualMappingCuration -NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:exactMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:ManualMappingCuration -NANDO:2200735 CD27 deficiency skos:exactMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:ManualMappingCuration -NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:exactMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:ManualMappingCuration -NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:exactMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration -NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:exactMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:ManualMappingCuration -NANDO:2200740 Caspase-8 deficiency skos:exactMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:ManualMappingCuration -NANDO:2200741 Fas-associated death domain protein deficiency skos:exactMatch MONDO:0013408 FADD-related immunodeficiency semapv:ManualMappingCuration -NANDO:2200743 PKC-δ deficiency skos:exactMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:ManualMappingCuration -NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:exactMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:ManualMappingCuration -NANDO:2200745 Severe congenital neutropenia skos:exactMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration -NANDO:2200746 Cyclic neutropenia skos:exactMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration -NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:exactMatch MONDO:0011405 poikiloderma with neutropenia semapv:ManualMappingCuration -NANDO:2200750 Cohen syndrome skos:exactMatch MONDO:0008999 Cohen syndrome semapv:ManualMappingCuration -NANDO:2200751 Barth syndrome skos:exactMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration -NANDO:2200752 P14 deficiency skos:exactMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:ManualMappingCuration -NANDO:2200753 X linked severe congenital neutropenia skos:exactMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:ManualMappingCuration -NANDO:2200754 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration -NANDO:2200755 Leukocyte adhesion deficiency skos:exactMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration -NANDO:2200756 Shwachman-Diamond syndrome skos:exactMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration -NANDO:2200757 Chronic granulomatous disease skos:exactMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration -NANDO:2200758 Myeloperoxidase deficiency skos:exactMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration -NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration -NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:exactMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration -NANDO:2200762 IRAK4 deficiency skos:exactMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration -NANDO:2200763 MyD88 deficiency skos:exactMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration -NANDO:2200764 Chronic mucocutaneous candidiasis skos:exactMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration -NANDO:2200766 HOIL-1 deficiency skos:exactMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualMappingCuration -NANDO:2200767 WHIM syndrome skos:exactMatch MONDO:0008674 obsolete WHIM syndrome semapv:ManualMappingCuration -NANDO:2200768 Epidermodysplasia verruciformis skos:exactMatch MONDO:0009176 epidermodysplasia verruciformis semapv:ManualMappingCuration -NANDO:2200770 STAT2 deficiency skos:exactMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:ManualMappingCuration -NANDO:2200771 MCM4 mutation skos:exactMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:ManualMappingCuration -NANDO:2200772 Herpes simplex encephalitis skos:exactMatch MONDO:0012521 herpes simplex encephalitis semapv:ManualMappingCuration -NANDO:2200774 Trypanosomiasis skos:exactMatch MONDO:0000940 trypanosomiasis semapv:ManualMappingCuration -NANDO:2200775 Isolated congenital asplenia skos:exactMatch MONDO:0010066 familial isolated congenital asplenia semapv:ManualMappingCuration -NANDO:2200776 Inherited deficiency of complement system skos:exactMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration -NANDO:2200777 C1q deficiency skos:exactMatch MONDO:0013343 C1Q deficiency semapv:ManualMappingCuration -NANDO:2200779 C1s deficiency skos:exactMatch MONDO:0013419 complement component C1s deficiency semapv:ManualMappingCuration -NANDO:2200781 C2 deficiency skos:exactMatch MONDO:0009006 complement component 2 deficiency semapv:ManualMappingCuration -NANDO:2200782 C3 deficiency skos:exactMatch MONDO:0013417 complement component 3 deficiency semapv:ManualMappingCuration -NANDO:2200783 C5 deficiency skos:exactMatch MONDO:0012295 complement component 5 deficiency semapv:ManualMappingCuration -NANDO:2200784 C6 deficiency skos:exactMatch MONDO:0012908 complement component 6 deficiency semapv:ManualMappingCuration -NANDO:2200785 C7 deficiency skos:exactMatch MONDO:0012412 complement component 7 deficiency semapv:ManualMappingCuration -NANDO:2200787 C9 deficiency skos:exactMatch MONDO:0013445 complement component 9 deficiency semapv:ManualMappingCuration -NANDO:2200789 Properdin deficiency skos:exactMatch MONDO:0010713 properdin deficiency, X-linked semapv:ManualMappingCuration -NANDO:2200791 Factor H deficiency skos:exactMatch MONDO:0012350 complement factor H deficiency semapv:ManualMappingCuration -NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:exactMatch MONDO:0017398 3MC syndrome semapv:ManualMappingCuration -NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration -NANDO:2200795 Hereditary angioedema skos:exactMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration -NANDO:2200797 Factor B deficiency skos:exactMatch MONDO:0014255 complement factor b deficiency semapv:ManualMappingCuration -NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:ManualMappingCuration -NANDO:2200803 CD46 deficiency skos:exactMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:ManualMappingCuration -NANDO:2200804 Primary CD59 deficiency skos:exactMatch MONDO:0012858 primary CD59 deficiency semapv:ManualMappingCuration -NANDO:2200805 Hyper eosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration -NANDO:2200806 Hypereosinophilic syndrome skos:exactMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration -NANDO:2200807 Eosinophilic gastrointestinal disorders skos:exactMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration -NANDO:2200808 Chronic active EB virus infection skos:exactMatch MONDO:0009194 immunodeficiency 32B semapv:ManualMappingCuration -NANDO:2200809 Acquired immune deficiency syndrome skos:exactMatch MONDO:0012268 AIDS semapv:ManualMappingCuration -NANDO:2200810 HIV infection skos:exactMatch MONDO:0005109 HIV infectious disease semapv:ManualMappingCuration -NANDO:2200812 Chronic graft-versus-host disease skos:exactMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration -NANDO:2200813 Meningoencephalocele skos:exactMatch MONDO:0017079 meningoencephalocele semapv:ManualMappingCuration -NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration -NANDO:2200814 Myelomeningocele skos:exactMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration -NANDO:2200815 Spinal lipoma skos:exactMatch MONDO:0001790 spinal cord lipoma semapv:ManualMappingCuration -NANDO:2200816 Sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration -NANDO:2200817 Lissencephaly skos:exactMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration -NANDO:2200818 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration -NANDO:2200819 Holoprosencephaly skos:exactMatch MONDO:0016296 holoprosencephaly semapv:ManualMappingCuration -NANDO:2200820 Septo-optic dysplasia skos:exactMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration -NANDO:2200821 Dandy-Walker syndrome skos:exactMatch MONDO:0009072 Dandy-Walker syndrome semapv:ManualMappingCuration -NANDO:2200822 Congenital hydrocephalus skos:exactMatch MONDO:0016349 congenital hydrocephalus semapv:ManualMappingCuration -NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:exactMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualMappingCuration -NANDO:2200824 Joubert syndrome related disorders skos:exactMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration -NANDO:2200825 Rett syndrome skos:exactMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration -NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration -NANDO:2200826 Tuberous sclerosis complex skos:exactMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration -NANDO:2200827 Neurocutaneous melanosis skos:exactMatch MONDO:0009578 neurocutaneous melanocytosis semapv:ManualMappingCuration -NANDO:2200828 Gorlin syndrome skos:exactMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:ManualMappingCuration -NANDO:2200829 von Hippel-Lindau disease skos:exactMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration -NANDO:2200830 Sturge-Weber syndrome skos:exactMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration -NANDO:2200831 Werner syndrome skos:exactMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration -NANDO:2200832 Cockayne syndrome skos:exactMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration -NANDO:2200833 Hutchinson-Gilford syndrome skos:exactMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration -NANDO:2200834 Canavan disease skos:exactMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration -NANDO:2200835 Alexander disease skos:exactMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration -NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:exactMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration -NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:exactMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration -NANDO:2200838 Vanishing white matter disease skos:exactMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration -NANDO:2200839 ATR-X syndrome skos:exactMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration -NANDO:2200840 Fragile X syndrome skos:exactMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration -NANDO:2200842 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration -NANDO:2200843 Non-syndromic craniosynostosis skos:exactMatch MONDO:0015337 isolated craniosynostosis semapv:ManualMappingCuration -NANDO:2200844 Apert syndrome skos:exactMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration -NANDO:2200845 Crouzon disease skos:exactMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration -NANDO:2200847 Carpenter syndrome skos:exactMatch MONDO:0019012 Carpenter syndrome semapv:ManualMappingCuration -NANDO:2200848 Saethre-Chotzen syndrome skos:exactMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:ManualMappingCuration -NANDO:2200850 Moyamoya disease skos:exactMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration -NANDO:2200851 Cerebral arteriovenous malformation skos:exactMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration -NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:exactMatch MONDO:0002327 intracranial cavernous angioma semapv:ManualMappingCuration -NANDO:2200853 Spinal muscular atrophy skos:exactMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration -NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:exactMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration -NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:ManualMappingCuration -NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:exactMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration -NANDO:2200856 Duchenne muscular dystrophy skos:exactMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration -NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration -NANDO:2200858 Limb-girdle muscular dystrophy skos:exactMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration -NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration -NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:exactMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration -NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:exactMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:ManualMappingCuration -NANDO:2200862 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration -NANDO:2200864 Myotonic dystrophy skos:exactMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration -NANDO:2200865 Becker muscular dystrophy skos:exactMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration -NANDO:2200866 LMNA-related congenital muscular dystrophy skos:exactMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:ManualMappingCuration -NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration -NANDO:2200867 Myotubular myopathy skos:exactMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration -NANDO:2200868 Congenital fiber-type disproportion myopathy skos:exactMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration -NANDO:2200869 Nemaline myopathy skos:exactMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration -NANDO:2200870 Central core disease skos:exactMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration -NANDO:2200871 Multicore disease skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration -NANDO:2200875 Reducing body myopathy skos:exactMatch MONDO:0019948 reducing body myopathy semapv:ManualMappingCuration -NANDO:2200876 Schwartz-Jampel syndrome skos:exactMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration -NANDO:2200877 Severe myoclonic epilepsy in infancy skos:exactMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration -NANDO:2200878 West syndrome skos:exactMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration -NANDO:2200879 Lennox-Gastaut syndrome skos:exactMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration -NANDO:2200880 Unverricht-Lundborg disease skos:exactMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration -NANDO:2200881 Lafora disease skos:exactMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration -NANDO:2200882 Spinocerebellar degeneration skos:exactMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration -NANDO:2200883 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration -NANDO:2200884 Dystonia musculorum deformans skos:exactMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration -NANDO:2200885 Segawa syndrome skos:exactMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration -NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:exactMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration -NANDO:2200887 Infantile neuroaxonal dystrophy skos:exactMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:ManualMappingCuration -NANDO:2200888 Infantile bilateral striatal necrosis skos:exactMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration -NANDO:2200889 Congenital herpes simplex virus infection skos:exactMatch MONDO:0017381 congenital herpes simplex virus infection semapv:ManualMappingCuration -NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0005713 obsolete MONDO:0005713 semapv:ManualMappingCuration -NANDO:2200890 Congenital rubella syndrome skos:exactMatch MONDO:0017361 congenital rubella syndrome semapv:ManualMappingCuration -NANDO:2200891 Congenital cytomegalovirus infection skos:exactMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:ManualMappingCuration -NANDO:2200892 Congenital toxoplasmosis skos:exactMatch MONDO:0005715 congenital toxoplasmosis semapv:ManualMappingCuration -NANDO:2200893 Aicardi-Goutières Syndrome skos:exactMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration -NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:exactMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:ManualMappingCuration -NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:exactMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:ManualMappingCuration -NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:exactMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:ManualMappingCuration -NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:exactMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:ManualMappingCuration -NANDO:2200899 Subacute sclerosing panencephalitis skos:exactMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration -NANDO:2200900 Rasmussen's encephalitis skos:exactMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration -NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration -NANDO:2200902 Autoimmune encephalitis skos:exactMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration -NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:exactMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration -NANDO:2200904 Multiple sclerosis skos:exactMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration -NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:exactMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration -NANDO:2200906 Myasthenia gravis skos:exactMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration -NANDO:2200907 Lactose intolerance skos:exactMatch MONDO:0009116 obsolete lactose intolerance semapv:ManualMappingCuration -NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:exactMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:ManualMappingCuration -NANDO:2200909 Glucose-galactose malabsorption skos:exactMatch MONDO:0011731 glucose-galactose malabsorption semapv:ManualMappingCuration -NANDO:2200910 Enterokinase deficiency skos:exactMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:ManualMappingCuration -NANDO:2200911 Amylase deficiency skos:exactMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:ManualMappingCuration -NANDO:2200912 Lipase deficiency skos:exactMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:ManualMappingCuration -NANDO:2200913 Microvillus inclusion disease skos:exactMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration -NANDO:2200914 Intestinal lymphangiectasia skos:exactMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration -NANDO:2200915 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 classic familial adenomatous polyposis semapv:ManualMappingCuration -NANDO:2200916 Juvenile polyposis skos:exactMatch MONDO:0017380 juvenile polyposis syndrome semapv:ManualMappingCuration -NANDO:2200917 Peutz-Jeghers syndrome skos:exactMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:ManualMappingCuration -NANDO:2200918 Cowden syndrome skos:exactMatch MONDO:0016063 Cowden disease semapv:ManualMappingCuration -NANDO:2200919 Cyclic vomiting syndrome skos:exactMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration -NANDO:2200920 Ulcerative colitis skos:exactMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration -NANDO:2200921 Crohn's disease skos:exactMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration -NANDO:2200923 Autoimmune enteropathy skos:exactMatch MONDO:0019787 autoimmune enteropathy semapv:ManualMappingCuration -NANDO:2200924 IPEX syndrome skos:exactMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualMappingCuration -NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:exactMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration -NANDO:2200930 biliary atresia skos:exactMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration -NANDO:2200930 biliary atresia skos:exactMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration -NANDO:2200931 Alagille syndrome skos:exactMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration -NANDO:2200933 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration -NANDO:2200934 Caroli disease skos:exactMatch MONDO:0010913 Caroli disease semapv:ManualMappingCuration -NANDO:2200934 Caroli disease skos:exactMatch MONDO:0018808 Caroli syndrome semapv:ManualMappingCuration -NANDO:2200936 Congenital hepatic fibrosis skos:exactMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration -NANDO:2200937 Liver cirrhosis skos:exactMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration -NANDO:2200941 Crigler-Najjar syndrome skos:exactMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration -NANDO:2200942 Hereditary pancreatitis skos:exactMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration -NANDO:2200943 Autoimmune pancreatitis skos:exactMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration -NANDO:2200944 Short bowel syndrome skos:exactMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration -NANDO:2200945 Hirschsprung disease skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration -NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:exactMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration -NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration -NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration -NANDO:2200950 Persistent cloaca skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration -NANDO:2200951 Cloacal exstrophy skos:exactMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration -NANDO:2200952 Coffin-Lowry syndrome skos:exactMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration -NANDO:2200953 Sotos syndrome skos:exactMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration -NANDO:2200954 Smith-Magenis syndrome skos:exactMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration -NANDO:2200955 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration -NANDO:2200956 Kabuki syndrome skos:exactMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration -NANDO:2200957 Weaver syndrome skos:exactMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration -NANDO:2200958 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration -NANDO:2200959 Beckwith-Wiedemann syndrome skos:exactMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:ManualMappingCuration -NANDO:2200960 Angelman syndrome skos:exactMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration -NANDO:2200961 5p- syndrome skos:exactMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration -NANDO:2200962 4p- Syndrome skos:exactMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration -NANDO:2200963 Trisomy 18 skos:exactMatch MONDO:0018071 trisomy 18 semapv:ManualMappingCuration -NANDO:2200964 Trisomy 13 skos:exactMatch MONDO:0018068 trisomy 13 semapv:ManualMappingCuration -NANDO:2200965 Down syndrome skos:exactMatch MONDO:0008608 Down syndrome semapv:ManualMappingCuration -NANDO:2200967 CFC Syndrome skos:exactMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration -NANDO:2200968 Marfan syndrome skos:exactMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration -NANDO:2200969 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 Loeys-Dietz syndrome semapv:ManualMappingCuration -NANDO:2200970 Camurati-Engelmann disease skos:exactMatch MONDO:0007542 Camurati-Engelmann disease semapv:ManualMappingCuration -NANDO:2200971 Costello syndrome skos:exactMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration -NANDO:2200972 CHARGE syndrome skos:exactMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration -NANDO:2200973 Hallermann-Streiff syndrome skos:exactMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:ManualMappingCuration -NANDO:2200974 Incontinentia pigmenti skos:exactMatch MONDO:0010631 incontinentia pigmenti semapv:ManualMappingCuration -NANDO:2200975 Antley-Bixler syndrome skos:exactMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration -NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration -NANDO:2200976 Pfeiffer syndrome skos:exactMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration -NANDO:2200977 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration -NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:exactMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:ManualMappingCuration -NANDO:2200979 Smith-Lemli-Opitz syndrome skos:exactMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration -NANDO:2200980 Moebius syndrome skos:exactMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration -NANDO:2200981 Mowat-Wilson syndrome skos:exactMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration -NANDO:2200982 Young-Simpson syndrome skos:exactMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration -NANDO:2200983 VATER syndrome skos:exactMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration -NANDO:2200984 MECP2 duplication syndrome skos:exactMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:ManualMappingCuration -NANDO:2200985 Takenouchi-Kosaki syndrome skos:exactMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:ManualMappingCuration -NANDO:2200986 Oculocutaneous albinism skos:exactMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration -NANDO:2200987 Keratinopathic ichthyosis skos:exactMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration -NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:exactMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:exactMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:2200990 Superficial epidermolytic ichthyosis skos:exactMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration -NANDO:2200991 Autosomal recessive congenital ichthyosis skos:exactMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration -NANDO:2200992 Harlequin ichthyosis skos:exactMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration -NANDO:2200993 Netherton syndrome skos:exactMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration -NANDO:2200994 Sjögren-Larsson syndrome skos:exactMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration -NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration -NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration -NANDO:2200997 Dorfman-Chanarin syndrome skos:exactMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration -NANDO:2200998 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration -NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:exactMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:ManualMappingCuration -NANDO:2201000 Epidermolysis bullosa skos:exactMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2201001 Pustular psoriasis skos:exactMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration -NANDO:2201002 Xeroderma pigmentosum skos:exactMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration -NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration -NANDO:2201003 von Recklinghausen's disease skos:exactMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration -NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration -NANDO:2201004 Pachydermoperiostosis skos:exactMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration -NANDO:2201005 Anhidrotic ectodermal dysplasia skos:exactMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:ManualMappingCuration -NANDO:2201006 Stevens-Johnson syndrome skos:exactMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration -NANDO:2201007 Toxic epidermal necrolysis skos:exactMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration -NANDO:2201008 Thoracic insufficiency syndrome skos:exactMatch MONDO:0015929 thoracic malformation semapv:ManualMappingCuration -NANDO:2201009 Achondroplasia skos:exactMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration -NANDO:2201010 Hypochondroplasia skos:exactMatch MONDO:0007793 hypochondroplasia semapv:ManualMappingCuration -NANDO:2201011 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration -NANDO:2201012 Hypophosphatasia skos:exactMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration -NANDO:2201013 Osteopetrosis skos:exactMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration -NANDO:2201014 Multiple cartilaginous exostosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration -NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration -NANDO:2201015 Enchondromatosis skos:exactMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:ManualMappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0016068 fibrochondrogenesis semapv:ManualMappingCuration -NANDO:2201016 Type II collagenopathy skos:exactMatch MONDO:0022800 type 2 collagenopathy semapv:ManualMappingCuration -NANDO:2201017 Chondrodysplasia punctata skos:exactMatch MONDO:0019701 chondrodysplasia punctata semapv:ManualMappingCuration -NANDO:2201018 Pseudoachondroplasia skos:exactMatch MONDO:0008322 pseudoachondroplasia semapv:ManualMappingCuration -NANDO:2201019 Larsen syndrome skos:exactMatch MONDO:0007875 Larsen syndrome semapv:ManualMappingCuration -NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration -NANDO:2201020 Fibrodysplasia ossificans progressiva skos:exactMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration -NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:exactMatch MONDO:0018240 TRPV4-related bone disorder semapv:ManualMappingCuration -NANDO:2201022 Osteosclerotic diseases skos:exactMatch MONDO:0002933 osteosclerosis semapv:ManualMappingCuration -NANDO:2201023 Pycnodysostosis skos:exactMatch MONDO:0009940 pycnodysostosis semapv:ManualMappingCuration -NANDO:2201024 Osteopoikilosis skos:exactMatch MONDO:0001414 osteopoikilosis semapv:ManualMappingCuration -NANDO:2201026 Beals syndrome skos:exactMatch MONDO:0007363 congenital contractural arachnodactyly semapv:ManualMappingCuration -NANDO:2201027 Blue rubber bleb nevus syndrome skos:exactMatch MONDO:0007203 blue rubber bleb nevus semapv:ManualMappingCuration -NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:exactMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration -NANDO:2201031 Primary lymphedema skos:exactMatch MONDO:0019175 primary lymphedema semapv:ManualMappingCuration -NANDO:2201032 Lymphangioma skos:exactMatch MONDO:0002013 lymphangioma semapv:ManualMappingCuration -NANDO:2201033 Lymphangiomatosis skos:exactMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration -NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:exactMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration -NANDO:2201035 Kasabach-Merritt syndrome skos:exactMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration -NANDO:2201038 Bilateral retinoblastoma skos:exactMatch MONDO:0003075 bilateral retinoblastoma semapv:ManualMappingCuration -NANDO:2201040 Bronchomalacia skos:exactMatch MONDO:0008888 Williams-Campbell syndrome semapv:ManualMappingCuration -NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:exactMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration -NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:exactMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:2201047 Familial pulmonary arterial hypertension skos:exactMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:ManualMappingCuration -NANDO:2201048 Secondary pulmonary arterial hypertension skos:exactMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:ManualMappingCuration -NANDO:2201050 Familial central diabetes insipidus skos:exactMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:ManualMappingCuration -NANDO:2201052 Multiple endocrine neoplasia type 2A skos:exactMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration -NANDO:2201053 Multiple endocrine neoplasia type 2B skos:exactMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:ManualMappingCuration -NANDO:2201054 Medullary thyroid carcinoma skos:exactMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:ManualMappingCuration -NANDO:2201055 Systemic juvenile idiopathic arthritis skos:exactMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:exactMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:exactMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:ManualMappingCuration -NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:exactMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:exactMatch MONDO:0011849 psoriatic arthritis semapv:ManualMappingCuration -NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:exactMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:exactMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration -NANDO:2201067 Muckle-Wells syndrome skos:exactMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration -NANDO:2201068 familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:exactMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration -NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:exactMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:ManualMappingCuration -NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:exactMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:ManualMappingCuration -NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:exactMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:ManualMappingCuration -NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:exactMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:ManualMappingCuration -NANDO:2201075 Phenylalanine hydroxylase deficiency skos:exactMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration -NANDO:2201076 BH4 deficiency skos:exactMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration -NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:exactMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration -NANDO:2201078 Classic form maple syrup urine disease skos:exactMatch MONDO:0017051 classic maple syrup urine disease semapv:ManualMappingCuration -NANDO:2201079 Intermediate maple syrup urine disease skos:exactMatch MONDO:0017052 intermediate maple syrup urine disease semapv:ManualMappingCuration -NANDO:2201080 Intermittent maple syrup urine disease skos:exactMatch MONDO:0017053 intermittent maple syrup urine disease semapv:ManualMappingCuration -NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:exactMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:ManualMappingCuration -NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:exactMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration -NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:ManualMappingCuration -NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:exactMatch MONDO:0016601 adult-onset citrullinemia type I semapv:ManualMappingCuration -NANDO:2201105 Methylmalonic acidemia cblA type skos:exactMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration -NANDO:2201106 Methylmalonic acidemia cblB type skos:exactMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration -NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration -NANDO:2201108 Methylmalonic acidemia CblD type skos:exactMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration -NANDO:2201109 Methylcobalamin deficiency cblE type skos:exactMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:ManualMappingCuration -NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:exactMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:ManualMappingCuration -NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:ManualMappingCuration -NANDO:2201111 Methylcobalamin deficiency cblG type skos:exactMatch MONDO:0021915 arakawa syndrome 2 semapv:ManualMappingCuration -NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:exactMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration -NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:ManualMappingCuration -NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration -NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:exactMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration -NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:exactMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration -NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:exactMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration -NANDO:2201151 Glycogen storage disease type 0a skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:2201152 Glycogen storage disease type 0b skos:exactMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:2201153 Glycogen storage disease type 1a skos:exactMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:ManualMappingCuration -NANDO:2201154 Glycogen storage disease type 1b skos:exactMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration -NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:exactMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:ManualMappingCuration -NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:exactMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:ManualMappingCuration -NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:exactMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:ManualMappingCuration -NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:exactMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:ManualMappingCuration -NANDO:2201163 Glycogen storage disease type IV, adult form skos:exactMatch MONDO:0009897 adult polyglucosan body disease semapv:ManualMappingCuration -NANDO:2201164 Glycogen storage disease type IXa skos:exactMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration -NANDO:2201165 Glycogen storage disease type IXb skos:exactMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration -NANDO:2201166 Glycogen storage disease type IXc skos:exactMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration -NANDO:2201167 Glycogen storage disease type IXd skos:exactMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration -NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration -NANDO:2201168 Hurler Disease skos:exactMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration -NANDO:2201169 Scheie disease skos:exactMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration -NANDO:2201170 Hurler-Scheie disease skos:exactMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration -NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration -NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:exactMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration -NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:exactMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration -NANDO:2201174 Mucopolysaccharidosis type III A skos:exactMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration -NANDO:2201175 Mucopolysaccharidosis type III B skos:exactMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration -NANDO:2201176 Mucopolysaccharidosis type III C skos:exactMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration -NANDO:2201177 Mucopolysaccharidosis type III D skos:exactMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration -NANDO:2201178 Mucopolysaccharidosis type IV A skos:exactMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration -NANDO:2201179 Mucopolysaccharidosis type IV B skos:exactMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration -NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration -NANDO:2201188 Alpha-mannosidosis, infantile form skos:exactMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration -NANDO:2201189 Alpha-mannosidosis, adult form skos:exactMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration -NANDO:2201190 Beta-mannosidosis skos:exactMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration -NANDO:2201191 Sialidosis type 1 skos:exactMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration -NANDO:2201192 Sialidosis type 2 skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration -NANDO:2201193 Galactosialidosis, early infantile form skos:exactMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration -NANDO:2201196 GM1 gangliosidosis, infantile form skos:exactMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration -NANDO:2201197 GM1 gangliosidosis, juvenile form skos:exactMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration -NANDO:2201198 GM1 gangliosidosis, adult form skos:exactMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration -NANDO:2201199 Tay-Sachs disease skos:exactMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration -NANDO:2201200 Sandhoff disease skos:exactMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration -NANDO:2201201 GM2 gangliosidosis AB variant skos:exactMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration -NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration -NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:exactMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration -NANDO:2201204 Metachromatic leukodystrophy, adult form skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration -NANDO:2201205 Saposin B deficiency skos:exactMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration -NANDO:2201206 Niemann-Pick disease type A skos:exactMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration -NANDO:2201207 Niemann-Pick disease type B skos:exactMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration -NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:exactMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration -NANDO:2201210 Gaucher disease type 1 skos:exactMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration -NANDO:2201211 Gaucher disease type 2 skos:exactMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration -NANDO:2201212 Gaucher disease type 3 skos:exactMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration -NANDO:2201216 Infantile Krabbe disease skos:exactMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration -NANDO:2201219 Adult Krabbe disease skos:exactMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration -NANDO:2201229 Classic infantile Pompe disease skos:exactMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration -NANDO:2201232 Wolman disease skos:exactMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration -NANDO:2201233 Cholesterol ester storage disease skos:exactMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration -NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration -NANDO:2201234 Nephropathic cystinosis skos:exactMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration -NANDO:2201235 Intermediate cystinosis skos:exactMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration -NANDO:2201236 Non-nephropathic cystinosis skos:exactMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration -NANDO:2201237 Infantile free sialic acid storage disease skos:exactMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration -NANDO:2201238 Intermediate severe Salla disease skos:exactMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration -NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration -NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration -NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:exactMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration -NANDO:2201248 Adrenomyeloneuropathy skos:exactMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration -NANDO:2201255 Homozygous familial hypercholesterolemia skos:exactMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration -NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:exactMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration -NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration -NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:exactMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration -NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:exactMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration -NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration -NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration -NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:exactMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration -NANDO:2201263 Acute intermittent porphyria skos:exactMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration -NANDO:2201264 Hereditary coproporphyria skos:exactMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration -NANDO:2201265 Variegate porphyria skos:exactMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration -NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:2201266 Erythropoietic protoporphyria skos:exactMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration -NANDO:2201267 Porphyria cutanea tarda skos:exactMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration -NANDO:2201269 X-linked dominant protoporphyria skos:exactMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration -NANDO:2201270 Hepatoerythropoietic porphyria skos:exactMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration -NANDO:2201273 α-thalassemia skos:exactMatch MONDO:0011399 alpha thalassemia semapv:ManualMappingCuration -NANDO:2201274 β-thalassemia skos:exactMatch MONDO:0019402 beta thalassemia semapv:ManualMappingCuration -NANDO:2201275 Congenital aplastic anemia skos:exactMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration -NANDO:2201276 Idiopathic aplastic anemia skos:exactMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration -NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:ManualMappingCuration -NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:ManualMappingCuration -NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:ManualMappingCuration -NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:ManualMappingCuration -NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:exactMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:ManualMappingCuration -NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:exactMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration -NANDO:2201288 Pelizaeus-Merzbacher disease skos:exactMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration -NANDO:2201289 Pelizaeus-Merzbacher like disease skos:exactMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration -NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:exactMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration -NANDO:2201291 18q-syndrome skos:exactMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration -NANDO:2201292 Allan-Herndon-Dudley syndrome skos:exactMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration -NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:exactMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration -NANDO:2201294 Salla disease skos:exactMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration -NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:exactMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration -NANDO:2201296 Hypomyelination and congenital cataract skos:exactMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration -NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:exactMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration -NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:exactMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration -NANDO:2201299 AGAT deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration -NANDO:2201300 GAMT deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration -NANDO:2201301 SLC6A8 deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration -NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:exactMatch MONDO:0018112 isolated scaphocephaly semapv:ManualMappingCuration -NANDO:2201305 Non-syndromic metopic craniosynostosis skos:exactMatch MONDO:0018065 isolated trigonocephaly semapv:ManualMappingCuration -NANDO:2201317 Anti-NMDA receptor encephalitis skos:exactMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:ManualMappingCuration -NANDO:2201319 Relapsing-remitting multiple sclerosis skos:exactMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration -NANDO:2201320 Primary progressive multiple sclerosis skos:exactMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration -NANDO:2201321 Secondary progressive multiple sclerosis skos:exactMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration -NANDO:2201322 Neuromyelitis optica skos:exactMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration -NANDO:2201341 Epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration -NANDO:2201342 Junctional epidermolysis bullosa skos:exactMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2201343 Dystrophic epidermolysis bullosa skos:exactMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008702 achondrogenesis type II semapv:ManualMappingCuration -NANDO:2201345 Achondrogenesis type 2 skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration -NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration -NANDO:2201346 Hypochondrogenesis skos:exactMatch MONDO:0019669 hypochondrogenesis semapv:ManualMappingCuration -NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:exactMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:ManualMappingCuration -NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:ManualMappingCuration -NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualMappingCuration -NANDO:2201350 Kniest dysplasia skos:exactMatch MONDO:0007987 Kniest dysplasia semapv:ManualMappingCuration -NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:exactMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:ManualMappingCuration -NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:exactMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:ManualMappingCuration -NANDO:2201354 Stickler syndrome type 1 skos:exactMatch MONDO:0007160 Stickler syndrome type 1 semapv:ManualMappingCuration -NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration -NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:exactMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration -NANDO:2201358 CHILD syndrome skos:exactMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration -NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:ManualMappingCuration -NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:exactMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration -NANDO:2201361 Greenberg dysplasia skos:exactMatch MONDO:0008974 Greenberg dysplasia semapv:ManualMappingCuration -NANDO:2201362 Astley-Kendall dysplasia skos:exactMatch MONDO:0019408 Astley-Kendall dysplasia semapv:ManualMappingCuration -NANDO:2201364 Melorheostosis skos:exactMatch MONDO:0007970 melorheostosis semapv:ManualMappingCuration -NANDO:2201365 Dysosteosclerosis skos:exactMatch MONDO:0009138 dysosteosclerosis semapv:ManualMappingCuration -NANDO:2201366 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 craniometaphyseal dysplasia semapv:ManualMappingCuration -NANDO:2201367 Metaphyseal dysplasias skos:exactMatch MONDO:0009943 Pyle disease semapv:ManualMappingCuration -NANDO:2201368 Craniodiaphyseal dysplasia skos:exactMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:ManualMappingCuration -NANDO:2201369 Sclerosteosis skos:exactMatch MONDO:0017838 sclerosteosis semapv:ManualMappingCuration -NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:exactMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration -NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:ManualMappingCuration -NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration -NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration -NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:exactMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:ManualMappingCuration -NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:exactMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration -NANDO:2200069 Yolk sac tumour skos:exactMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:ManualMappingCuration -NANDO:2200214 Complete atrio-ventricular block skos:exactMatch MONDO:0009326 congenital heart block semapv:ManualMappingCuration -NANDO:2200801 CD21 deficiency skos:exactMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualMappingCuration -NANDO:1200301 Borderline between aplastic anemia and MDS skos:exactMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:ManualMappingCuration -NANDO:1200701 Complete transposition of the great arteries (Group2) skos:exactMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:ManualMappingCuration -NANDO:1200703 Complete transposition of the great arteries (Group4) skos:exactMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:ManualMappingCuration -NANDO:1200838 Hepatic glycogen storage disease skos:exactMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration -NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:exactMatch MONDO:0019328 macrocystic lymphatic malformation semapv:ManualMappingCuration -NANDO:2200138 Amyloid nephropathy skos:exactMatch MONDO:0007099 familial visceral amyloidosis semapv:ManualMappingCuration -NANDO:2200190 Laryngeal stenosis skos:exactMatch MONDO:0007879 larynx atresia semapv:ManualMappingCuration -NANDO:2200218 Multiple atrial tachycardia skos:exactMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration -NANDO:2200284 Coarctation complex skos:exactMatch MONDO:0015446 atypical coarctation of aorta semapv:ManualMappingCuration -NANDO:2200605 HDL deficiency skos:exactMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:ManualMappingCuration -NANDO:2200948 Congenital Isolated Hypoganglionosis skos:exactMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration -NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:exactMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration -NANDO:1200174 Chronic progressive external ophthalmoplegia skos:exactMatch MONDO:0005181 progressive external ophthalmoplegia semapv:ManualMappingCuration -NANDO:1201032 Cerebral creatine deficiency syndromes skos:exactMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration -NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:exactMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration -NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:exactMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration -NANDO:1201035 Creatine transporter deficiency skos:exactMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration -NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration -NANDO:1201036 Nephronophthisis skos:exactMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration -NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:exactMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:ManualMappingCuration -NANDO:1201038 Homocystinuria skos:exactMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration -NANDO:1201039 Homocystinuria type 1 skos:exactMatch MONDO:0009352 classic homocystinuria semapv:ManualMappingCuration -NANDO:1201040 Homocystinuria type 2 skos:exactMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration -NANDO:1201041 Homocystinuria type 3 skos:exactMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:ManualMappingCuration -NANDO:1201042 Progressive familial intrahepatic cholestasis skos:exactMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration -NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:exactMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:ManualMappingCuration -NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:exactMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:ManualMappingCuration -NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:exactMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:ManualMappingCuration -NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:exactMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:ManualMappingCuration -NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:exactMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:ManualMappingCuration -NANDO:1201048 Acquired factor X inhibitor skos:exactMatch MONDO:0021134 acquired factor X deficiency semapv:ManualMappingCuration -NANDO:1201049 Senior-Loken syndrome skos:exactMatch MONDO:0017842 Senior-Loken syndrome semapv:ManualMappingCuration -NANDO:1201050 COACH syndrome skos:exactMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:ManualMappingCuration -NANDO:1201051 Oral-facial-digital syndrome skos:exactMatch MONDO:0015375 orofaciodigital syndrome semapv:ManualMappingCuration -NANDO:1201056 End-plate acetylcholine esterase deficiency skos:exactMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:ManualMappingCuration -NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:exactMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:ManualMappingCuration -NANDO:1201058 RAPADILINO syndrome skos:exactMatch MONDO:0009955 rapadilino syndrome semapv:ManualMappingCuration -NANDO:1201059 Baller-Gerold syndrome skos:exactMatch MONDO:0009039 Baller-Gerold syndrome semapv:ManualMappingCuration -NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:exactMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration -NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:exactMatch MONDO:0019731 AApoAI amyloidosis semapv:ManualMappingCuration -NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:exactMatch MONDO:0007097 Finnish type amyloidosis semapv:ManualMappingCuration -NANDO:1201064 Kearns-Sayre syndrome skos:exactMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration -NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration -NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:exactMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration -NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:exactMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:ManualMappingCuration -NANDO:1201068 Agyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration -NANDO:1201068 Agyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration -NANDO:1201069 Pachygyria skos:exactMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration -NANDO:1201069 Pachygyria skos:exactMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration -NANDO:1201070 Subcortical band heterotopia skos:exactMatch MONDO:0020491 subcortical band heterotopia semapv:ManualMappingCuration -NANDO:1201079 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 periventricular nodular heterotopia semapv:ManualMappingCuration -NANDO:1201071 Polymicrogyria skos:exactMatch MONDO:0000087 polymicrogyria semapv:ManualMappingCuration -NANDO:1201072 Cobblestone brain malformation skos:exactMatch MONDO:0018869 cobblestone lissencephaly semapv:ManualMappingCuration -NANDO:1201073 Schizencephaly skos:exactMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration -NANDO:1201074 Porencephaly skos:exactMatch MONDO:0017410 porencephaly semapv:ManualMappingCuration -NANDO:1201080 Protein C deficiency skos:exactMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration -NANDO:1201081 Protein S deficiency skos:exactMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration -NANDO:1201083 Miller Dieker syndrome skos:exactMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:ManualMappingCuration -NANDO:1201075 Pseudohypoparathyroidism type 1A skos:exactMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:ManualMappingCuration -NANDO:1201076 Pseudohypoparathyroidism type 1B skos:exactMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:ManualMappingCuration -NANDO:1201077 Pseudohypoparathyroidism type 1C skos:exactMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:ManualMappingCuration -NANDO:1201078 Pseudohypoparathyroidism type 2 skos:exactMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:ManualMappingCuration -NANDO:2201385 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration -NANDO:1200892 Hereditary sideroblastic anemia skos:exactMatch MONDO:0020099 inherited sideroblastic anemia semapv:ManualMappingCuration -NANDO:1200079 Late infantile metachromatic leukodystrophy skos:exactMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration -NANDO:1200081 Adult metachromatic leukodystrophy skos:exactMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration -NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:exactMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration -NANDO:1200428 Pulmonary capillary hemangiomatosis skos:exactMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration -NANDO:1200480 Minicore myopathy skos:exactMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration -NANDO:1200568 Focal cortical dysplasia type 2a skos:exactMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:ManualMappingCuration -NANDO:1200569 Focal cortical dysplasia type 2b skos:exactMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:ManualMappingCuration -NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:exactMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration -NANDO:1200693 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration -NANDO:1200751 Alveolar hypoventilation syndrome skos:exactMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration -NANDO:1200817 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration -NANDO:1200831 Phosphoglycerate kinase deficiency skos:exactMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:ManualMappingCuration -NANDO:1200889 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration -NANDO:1200995 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration -NANDO:2200054 Primitive neuroectodermal tumors skos:exactMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration -NANDO:2200111 Diffuse mesangial sclerosis skos:exactMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:ManualMappingCuration -NANDO:2200197 Bronchial asthma skos:exactMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration -NANDO:2200261 Truncus arteriosus communis skos:exactMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration -NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:exactMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:ManualMappingCuration -NANDO:2200374 21-Hydroxylase deficiency skos:exactMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration -NANDO:2200384 Ovarian dysgenesis skos:exactMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:ManualMappingCuration -NANDO:2200389 5 alpha-reductase deficiency skos:exactMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:ManualMappingCuration -NANDO:2200425 Polyangiitis nodosa skos:exactMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration -NANDO:2200441 Adenosine deaminase 2 deficiency skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration -NANDO:2200450 Deficiency of the enzyme ADA2 skos:exactMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration -NANDO:2200459 NLRC4 mutation skos:exactMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration -NANDO:2200603 Familial combined hyperlipidemia skos:exactMatch MONDO:0001336 familial hyperlipidemia semapv:ManualMappingCuration -NANDO:2200610 Congenital porphyria skos:exactMatch MONDO:0019142 inherited porphyria semapv:ManualMappingCuration -NANDO:2200613 Acquired pure red cell aplasia skos:exactMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration -NANDO:2200672 Afibrinogenemia skos:exactMatch MONDO:0008737 congenital afibrinogenemia semapv:ManualMappingCuration -NANDO:2200673 Hypoprothrombinemia skos:exactMatch MONDO:0013361 congenital prothrombin deficiency semapv:ManualMappingCuration -NANDO:2200700 ZAP-70 deficiency skos:exactMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration -NANDO:2200737 STAT5b deficiency skos:exactMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:ManualMappingCuration -NANDO:2200773 CARD9 deficiency skos:exactMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:ManualMappingCuration -NANDO:2200788 Factor D deficiency skos:exactMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:ManualMappingCuration -NANDO:2200790 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration -NANDO:2200793 MASP2 deficiency skos:exactMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:ManualMappingCuration -NANDO:2200794 Ficolin 3 Deficiency skos:exactMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:ManualMappingCuration -NANDO:2200798 Factor I deficiency skos:exactMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration -NANDO:2200872 Minicore myopathy skos:exactMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:ManualMappingCuration -NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:exactMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:ManualMappingCuration -NANDO:2201268 Congenital erythropoietic porphyria skos:exactMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration -NANDO:2201277 Secondary aplastic anemia skos:exactMatch MONDO:0015610 acquired aplastic anemia semapv:ManualMappingCuration -NANDO:2201351 Spondyloperipheral dysplasia skos:exactMatch MONDO:0010078 spondyloperipheral dysplasia semapv:ManualMappingCuration +NANDO:1100001 Neuromuscular disease skos:closeMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:closeMatch MONDO:0004955 obsolete metabolic syndrome semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:closeMatch MONDO:0005066 metabolic disease semapv:ManualMappingCuration +NANDO:1100004 Immune system disease skos:closeMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:1100005 Cardiovascular disease skos:closeMatch MONDO:0004995 cardiovascular disorder semapv:ManualMappingCuration +NANDO:1100006 Blood disease skos:closeMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:1100009 Endocrine disease skos:closeMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:1100010 Respiratory disease skos:closeMatch MONDO:0005087 respiratory system disorder semapv:ManualMappingCuration +NANDO:1100013 Gastrointestinal disease skos:closeMatch MONDO:0004335 digestive system disorder semapv:ManualMappingCuration +NANDO:1100014 Chromosome abnormality skos:closeMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:1100015 Otorhinolaryngological disease skos:closeMatch MONDO:0024623 otorhinolaryngologic disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:closeMatch MONDO:0010735 Kennedy disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:closeMatch MONDO:0016113 bulbospinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200002 Amyotrophic lateral sclerosis skos:closeMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:ManualMappingCuration +NANDO:1200003 Spinal muscular atrophy skos:closeMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200004 Spinal muscular atrophy type I skos:closeMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:ManualMappingCuration +NANDO:1200005 Spinal muscular atrophy type II skos:closeMatch MONDO:0009673 spinal muscular atrophy, type II semapv:ManualMappingCuration +NANDO:1200006 Spinal muscular atrophy type III skos:closeMatch MONDO:0009672 spinal muscular atrophy, type III semapv:ManualMappingCuration +NANDO:1200007 Spinal muscular atrophy type IV skos:closeMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:ManualMappingCuration +NANDO:1200008 Primary lateral sclerosis skos:closeMatch MONDO:0018155 lateral sclerosis semapv:ManualMappingCuration +NANDO:1200009 Progressive supranuclear palsy skos:closeMatch MONDO:0019037 progressive supranuclear palsy semapv:ManualMappingCuration +NANDO:1200010 Parkinson's disease skos:closeMatch MONDO:0005180 Parkinson disease semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:closeMatch MONDO:0022308 corticobasal degeneration disorder semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:closeMatch MONDO:0022880 obsolete corticobasal degeneration semapv:ManualMappingCuration +NANDO:1200012 Huntington's disease skos:closeMatch MONDO:0007739 Huntington disease semapv:ManualMappingCuration +NANDO:1200013 Neuroacanthocytosis skos:closeMatch MONDO:0016987 neuroacanthocytosis semapv:ManualMappingCuration +NANDO:1200014 Chorea-acanthocytosis skos:closeMatch MONDO:0008695 chorea-acanthocytosis semapv:ManualMappingCuration +NANDO:1200015 McLeod syndrome skos:closeMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:ManualMappingCuration +NANDO:1200016 Charcot-Marie-Tooth disease skos:closeMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:closeMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:ManualMappingCuration +NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:closeMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:ManualMappingCuration +NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:closeMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200020 Myasthenia gravis skos:closeMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:1200021 Congenital myasthenic syndrome skos:closeMatch MONDO:0018940 congenital myasthenic syndrome semapv:ManualMappingCuration +NANDO:1200023 Multiple sclerosis skos:closeMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:1200024 Relapsing-remitting multiple sclerosis skos:closeMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:1200025 Primary progressive multiple sclerosis skos:closeMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200026 Secondary progressive multiple sclerosis skos:closeMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200027 Neuromyelitis optica spectrum disorders skos:closeMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:1200028 Baló concentric sclerosis skos:closeMatch MONDO:0016430 Balo concentric sclerosis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:1200031 Multifocal motor neuropathy skos:closeMatch MONDO:0018979 multifocal motor neuropathy semapv:ManualMappingCuration +NANDO:1200032 Sporadic inclusion body myositis skos:closeMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200033 Crow-Fukase syndrome skos:closeMatch MONDO:0017364 POEMS syndrome semapv:ManualMappingCuration +NANDO:1200034 Multiple system atrophy skos:closeMatch MONDO:0007803 multiple system atrophy semapv:ManualMappingCuration +NANDO:1200035 Multiple system atrophy, cerebellar type skos:closeMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:ManualMappingCuration +NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:closeMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:ManualMappingCuration +NANDO:1200037 Spinocerebellar degeneration skos:closeMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:1200041 Spinocerebellar ataxia type 3 skos:closeMatch MONDO:0007182 Machado-Joseph disease semapv:ManualMappingCuration +NANDO:1200042 Spinocerebellar ataxia type 6 skos:closeMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:ManualMappingCuration +NANDO:1200043 Dentatorubropallidoluysian atrophy skos:closeMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:ManualMappingCuration +NANDO:1200044 Spinocerebellar ataxia type 31 skos:closeMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:ManualMappingCuration +NANDO:1200045 Spinocerebellar ataxia type 1 skos:closeMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:ManualMappingCuration +NANDO:1200046 Spinocerebellar ataxia type 2 skos:closeMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:ManualMappingCuration +NANDO:1200047 Spinocerebellar ataxia type 7 skos:closeMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:ManualMappingCuration +NANDO:1200048 Spinocerebellar ataxia type 36 skos:closeMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:ManualMappingCuration +NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:closeMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:ManualMappingCuration +NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:closeMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualMappingCuration +NANDO:1200052 Hereditary spastic paraplegia skos:closeMatch MONDO:0019064 hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200053 Pure hereditary spastic paraplegia skos:closeMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200054 Complex hereditary spastic paraplegia skos:closeMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200055 Lysosomal storage disease skos:closeMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:1200056 Gaucher disease skos:closeMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:1200057 Gaucher disease type 1 skos:closeMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:1200058 Gaucher disease type 2 skos:closeMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:1200059 Gaucher disease type 3 skos:closeMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:1200061 Niemann-Pick disease type A skos:closeMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:1200062 Niemann-Pick disease type B skos:closeMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:1200063 Niemann-Pick disease type C skos:closeMatch MONDO:0018982 Niemann-Pick disease type C semapv:ManualMappingCuration +NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:closeMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:1200066 GM1 gangliosidosis skos:closeMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:1200067 Infantile GM1 gangliosidosis skos:closeMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:1200068 Juvenile GM1 gangliosidosis skos:closeMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:1200069 Adult GM1 gangliosidosis skos:closeMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:1200070 GM2 gangliosidosis skos:closeMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:1200071 Tay-Sachs disease skos:closeMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:1200072 Sandhoff disease skos:closeMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:1200073 GM2 gangliosidosis AB variant skos:closeMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:1200074 Krabbe disease skos:closeMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:1200075 Infantile Krabbe disease skos:closeMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:1200077 Adult Krabbe disease skos:closeMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:1200078 Metachromatic leukodystrophy skos:closeMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:closeMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:1200082 Saposin B deficiency skos:closeMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:1200083 Multiple sulfatase deficiency skos:closeMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200086 Farber disease skos:closeMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:1200094 Hurler syndrome skos:closeMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:1200095 Scheie syndrome skos:closeMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:1200096 Hurler-Scheie syndrome skos:closeMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:1200097 Hunter syndrome skos:closeMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:1200098 Hunter syndrome type A skos:closeMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:1200099 Hunter syndrome type B skos:closeMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:1200100 Sanfilippo disease skos:closeMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:1200101 Sanfilippo disease type A skos:closeMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:1200102 Sanfilippo disease type B skos:closeMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:1200103 Sanfilippo disease type C skos:closeMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:1200104 Sanfilippo disease type D skos:closeMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:1200105 Morquio syndrome skos:closeMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:1200106 Morquio syndrome type A skos:closeMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:1200107 Morquio syndrome type B skos:closeMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:1200108 Maroteaux-Lamy syndrome skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200111 Sly syndrome skos:closeMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:1200115 Hyaluronidase deficiency skos:closeMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:ManualMappingCuration +NANDO:1200116 Sialidosis skos:closeMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:1200117 Sialidosis type 1 skos:closeMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:1200118 Sialidosis type 2 skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200119 Galactosialidosis skos:closeMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:1200120 Galactosialidosis, early infantile form skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200124 Mucolipidosis II skos:closeMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:1200125 Mucolipidosis III skos:closeMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:1200126 Alpha-mannosidosis skos:closeMatch MONDO:0009561 alpha-mannosidosis semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:1200128 Alpha-mannosidosis, adult form skos:closeMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:1200129 Beta-mannosidosis skos:closeMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:1200130 Fucosidosis skos:closeMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:1200133 Aspartylglucosaminuria skos:closeMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:1200134 Schindler disease skos:closeMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:ManualMappingCuration +NANDO:1200135 Schindler disease type I skos:closeMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:ManualMappingCuration +NANDO:1200136 Schindler disease type 2 skos:closeMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:ManualMappingCuration +NANDO:1200137 Schindler disease type 3 skos:closeMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:ManualMappingCuration +NANDO:1200138 Pompe disease skos:closeMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200139 Classic infantile Pompe disease skos:closeMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:1200142 Acid lipase deficiency skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200143 Wolman disease skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200144 Cholesterol ester storage disease skos:closeMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:1200145 Danon disease skos:closeMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200146 Free sialic acid storage disease skos:closeMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:1200147 Infantile free sialic acid storage disease skos:closeMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:1200148 Intermediate severe Salla disease skos:closeMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:1200149 Salla disease skos:closeMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:closeMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200157 Fabry disease skos:closeMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:1200161 Cystinosis skos:closeMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:closeMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:closeMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200163 Intermediate cystinosis skos:closeMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200164 Non-nephropathic cystinosis skos:closeMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:1200165 Adrenoleukodystrophy skos:closeMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:closeMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200168 Adrenomyeloneuropathy skos:closeMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:closeMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:closeMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:1200175 Leigh's encephalomyelopathy skos:closeMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:closeMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:closeMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:1200178 Leber hereditary optic neuropathy skos:closeMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:closeMatch MONDO:0100133 mitochondrial complex I deficiency semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:closeMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:ManualMappingCuration +NANDO:1200181 Mitochondrial complex II deficiency skos:closeMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:ManualMappingCuration +NANDO:1200183 Moyamoya disease skos:closeMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:1200186 Prion disease skos:closeMatch MONDO:0005429 prion disease semapv:ManualMappingCuration +NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:closeMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200188 Genetic prion diseases skos:closeMatch MONDO:0017234 inherited prion disease semapv:ManualMappingCuration +NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:closeMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:ManualMappingCuration +NANDO:1200191 Fatal familial insomnia skos:closeMatch MONDO:0010808 fatal familial insomnia semapv:ManualMappingCuration +NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:closeMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:closeMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:closeMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200195 Subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200196 Typical subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200205 Progressive multifocal leukoencephalopathy skos:closeMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200206 HTLV-1-associated myelopathy skos:closeMatch MONDO:0008039 tropical spastic paraparesis semapv:ManualMappingCuration +NANDO:1200207 Idiopathic basal ganglia calcification skos:closeMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:ManualMappingCuration +NANDO:1200208 Familial idiopathic basal ganglia calcification skos:closeMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:ManualMappingCuration +NANDO:1200209 Systemic amyloidosis skos:closeMatch MONDO:0017816 primary systemic amyloidosis semapv:ManualMappingCuration +NANDO:1200211 Amyloid light-chain amyloidosis skos:closeMatch MONDO:0019438 AL amyloidosis semapv:ManualMappingCuration +NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:closeMatch MONDO:0018018 wild type ATTR amyloidosis semapv:ManualMappingCuration +NANDO:1200214 Familial amyloid polyneuropathy skos:closeMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:closeMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:closeMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:ManualMappingCuration +NANDO:1200216 Distal myopathy skos:closeMatch MONDO:0018949 distal myopathy semapv:ManualMappingCuration +NANDO:1200217 Miyoshi myopathy skos:closeMatch MONDO:0009685 Miyoshi myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:closeMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:closeMatch MONDO:0011603 GNE myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:closeMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:closeMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:closeMatch MONDO:0025193 oculopharyngodistal myopathy semapv:ManualMappingCuration +NANDO:1200220 Bethlem Myopathy skos:closeMatch MONDO:0008029 Bethlem myopathy semapv:ManualMappingCuration +NANDO:1200222 Danon disease skos:closeMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200223 X-linked Myopathy with excessive autophagy skos:closeMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:ManualMappingCuration +NANDO:1200224 Schwartz-Jampel syndrome skos:closeMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:closeMatch MONDO:0007039 neurofibromatosis type 2 semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200228 Pemphigus skos:closeMatch MONDO:0006594 pemphigus semapv:ManualMappingCuration +NANDO:1200229 Pemphigus vulgaris skos:closeMatch MONDO:0008219 pemphigus vulgaris semapv:ManualMappingCuration +NANDO:1200230 Pemphigus foliaceus skos:closeMatch MONDO:0019324 pemphigus foliaceus semapv:ManualMappingCuration +NANDO:1200231 Paraneoplastic pemphigus skos:closeMatch MONDO:0018974 paraneoplastic pemphigus semapv:ManualMappingCuration +NANDO:1200232 Pemphigus vegetans skos:closeMatch MONDO:0019322 pemphigus vegetans semapv:ManualMappingCuration +NANDO:1200233 Pemphigus erythematosus skos:closeMatch MONDO:0019323 pemphigus erythematosus semapv:ManualMappingCuration +NANDO:1200234 Epidermolysis bullosa skos:closeMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200235 Epidermolysis bullosa simplex skos:closeMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:1200236 Junctional epidermolysis bullosa skos:closeMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:closeMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200239 Kindler syndrome skos:closeMatch MONDO:0008260 Kindler syndrome semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:closeMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:closeMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:1200243 Impetigo herpetiformis skos:closeMatch MONDO:0004591 impetigo herpetiformis semapv:ManualMappingCuration +NANDO:1200244 Acrodermatitis continua of Hallopeau skos:closeMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:1200245 Stevens-Johnson syndrome skos:closeMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:1200246 Toxic epidermal necrolysis skos:closeMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:closeMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:closeMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:1200258 Giant cell arteritis skos:closeMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200259 Cranial giant cell arteritis skos:closeMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200260 Large-vessel giant cell arteritis skos:closeMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200261 Polyarteritis nodosa skos:closeMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:1200262 Microscopic polyangiitis skos:closeMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:1200263 Granulomatosis with polyangiitis skos:closeMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:closeMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200265 Rheumatoid vasculitis skos:closeMatch MONDO:0043267 rheumatoid vasculitis semapv:ManualMappingCuration +NANDO:1200266 Buerger's disease skos:closeMatch MONDO:0008889 thromboangiitis obliterans semapv:ManualMappingCuration +NANDO:1200267 Primary antiphospholipid antibody syndrome skos:closeMatch MONDO:0005204 primary antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200270 Catastrophic antiphospholipid syndrome skos:closeMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200271 Antiphospholipid antibody-related disease skos:closeMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200272 Systemic lupus erythematosus skos:closeMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:1200274 Dermatomyositis skos:closeMatch MONDO:0016367 dermatomyositis semapv:ManualMappingCuration +NANDO:1200275 Amyopathic dermatomyositis skos:closeMatch MONDO:0043317 amyopathic dermatomyositis semapv:ManualMappingCuration +NANDO:1200276 Polymyositis skos:closeMatch MONDO:0019127 polymyositis semapv:ManualMappingCuration +NANDO:1200277 Systemic sclerosis skos:closeMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:1200278 Mixed connective tissue disease skos:closeMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:1200279 Sjogren's syndrome skos:closeMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200280 Primary Sjogren's syndrome skos:closeMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200282 Adult Still's disease skos:closeMatch MONDO:0019355 adult-onset Still disease semapv:ManualMappingCuration +NANDO:1200283 Relapsing polychondritis skos:closeMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:1200284 Behcet's disease skos:closeMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:1200286 Hypertrophic cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200292 Restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200294 Secondary restrictive cardiomyopathy skos:closeMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200295 Aplastic anemia skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200296 Idiopathic aplastic anemia skos:closeMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200302 Congenital aplastic anemia skos:closeMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:1200303 Fanconi anemia skos:closeMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200304 Dyskeratosis congenita skos:closeMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200305 Autoimmune hemolytic anemia skos:closeMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200306 Warm antibody hemolytic anemia skos:closeMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:ManualMappingCuration +NANDO:1200307 Cold agglutinin disease skos:closeMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:1200308 Paroxysmal cold hemoglobinuria skos:closeMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:closeMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200310 Evans syndrome skos:closeMatch MONDO:0016030 Evans syndrome semapv:ManualMappingCuration +NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200315 Idiopathic thrombocytopenic purpura skos:closeMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200316 Thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200320 Primary immunodeficiency syndrome skos:closeMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:1200321 X-linked severe combined immunodeficiency skos:closeMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:1200322 Reticular dysgenesis skos:closeMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:1200323 Adenosine deaminase deficiency skos:closeMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:1200324 Omenn syndrome skos:closeMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:closeMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:1200326 CD8 deficiency skos:closeMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:1200327 Zap-70 deficiency skos:closeMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:1200328 MHC class I deficiency skos:closeMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:1200329 MHC class II deficiency skos:closeMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:1200330 Wiskott-Aldrich syndrome skos:closeMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:1200331 Ataxia telangiectasia skos:closeMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:1200332 Nijmegen breakage syndrome skos:closeMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:1200333 Bloom syndrome skos:closeMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:1200334 ICF syndrome skos:closeMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:1200336 RIDDLE syndrome skos:closeMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:1200337 Schimke syndrome skos:closeMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:1200338 Netherton syndrome skos:closeMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:closeMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:closeMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:closeMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200340 Hyper-IgE syndrome skos:closeMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:closeMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:1200342 Dyskeratosis congenita skos:closeMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200343 X-linked agammaglobulinemia skos:closeMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:1200344 Common variable immunodeficiency skos:closeMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:1200345 Hyper-IgM syndrome skos:closeMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:1200346 IgG subclass deficiency skos:closeMatch MONDO:0045045 selective IgG immunodeficiency semapv:ManualMappingCuration +NANDO:1200347 Selective IgA deficiency skos:closeMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:closeMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:closeMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:1200350 Chédiak-Higashi syndrome skos:closeMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200351 X-linked lymphoproliferative syndrome skos:closeMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:closeMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200353 Severe congenital neutropenia skos:closeMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:1200354 Cyclic neutropenia skos:closeMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:1200355 Leukocyte adhesion deficiency skos:closeMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:1200356 Shwachman-Diamond syndrome skos:closeMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:1200357 Chronic granulomatous disease skos:closeMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:1200358 Myeloperoxidase deficiency skos:closeMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:closeMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:1200361 IRAK4 deficiency skos:closeMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:1200362 MyD88 deficiency skos:closeMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:1200363 Chronic mucocutaneous candidiasis skos:closeMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:1200364 Inherited deficiency of complement system skos:closeMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:closeMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:closeMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:1200366 IgA nephropathy skos:closeMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:1200367 Polycystic kidney disease skos:closeMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200368 Autosomal dominant polycystic kidney disease skos:closeMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200369 Autosomal recessive polycystic kidney disease skos:closeMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200371 Ossification of posterior longitudinal ligament skos:closeMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:ManualMappingCuration +NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:closeMatch MONDO:0005965 spinal stenosis semapv:ManualMappingCuration +NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:closeMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:ManualMappingCuration +NANDO:1200375 Central diabetes insipidus skos:closeMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:closeMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:closeMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:ManualMappingCuration +NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:closeMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200379 Cushing disease skos:closeMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:1200381 Central precocious puberty skos:closeMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:closeMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualMappingCuration +NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:closeMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200385 Growth hormone secreting pituitary adenoma skos:closeMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:closeMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200387 Hypopituitarism syndrome skos:closeMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:1200388 Hypogonadotropic hypogonadism skos:closeMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200390 Thyroid-stimulating hormone deficiency skos:closeMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:1200394 Homozygous familial hypercholesterolemia skos:closeMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:closeMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:closeMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:1200396 Congenital adrenal enzyme deficiency skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:closeMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200399 21-Hydroxylase deficiency skos:closeMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200400 11-β-Hydroxylase deficiency skos:closeMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200401 17-α-Hydroxylase deficiency skos:closeMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200402 P450 oxidoreductase deficiency skos:closeMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:closeMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200404 DAX1 abnormality skos:closeMatch MONDO:0010226 46,XY sex reversal 2 semapv:ManualMappingCuration +NANDO:1200405 SF-1 abnormality skos:closeMatch MONDO:0013066 46,XY sex reversal 3 semapv:ManualMappingCuration +NANDO:1200406 IMAge syndrome skos:closeMatch MONDO:0013873 IMAGe syndrome semapv:ManualMappingCuration +NANDO:1200408 MC2R deficiency skos:closeMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:ManualMappingCuration +NANDO:1200409 MRAP deficiency skos:closeMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:ManualMappingCuration +NANDO:1200410 Allgrove syndrome skos:closeMatch MONDO:0009279 triple-A syndrome semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:closeMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:1200412 Autoimmune Addison's disease skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200415 Sarcoidosis skos:closeMatch MONDO:0019338 sarcoidosis semapv:ManualMappingCuration +NANDO:1200416 Idiopathic interstitial pneumonia skos:closeMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200417 Idiopathic pulmonary fibrosis skos:closeMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:ManualMappingCuration +NANDO:1200419 Non-specific interstitial pneumonia skos:closeMatch MONDO:0019622 non-specific interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200420 Acute interstitial pneumonia skos:closeMatch MONDO:0019203 acute interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200421 Cryptogenic organizing pneumonia skos:closeMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:ManualMappingCuration +NANDO:1200422 Desquamative interstitial pneumonia skos:closeMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:closeMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200424 Lymphoid interstitial pneumonia skos:closeMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200425 Pulmonary arterial hypertension skos:closeMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:closeMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200427 Pulmonary veno-occlusive disease skos:closeMatch MONDO:0009937 pulmonary venoocclusive disease semapv:ManualMappingCuration +NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:closeMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:ManualMappingCuration +NANDO:1200430 Lymphangioleiomyomatosis skos:closeMatch MONDO:0011705 lymphangioleiomyomatosis semapv:ManualMappingCuration +NANDO:1200431 Retinitis pigmentosa skos:closeMatch MONDO:0019200 retinitis pigmentosa semapv:ManualMappingCuration +NANDO:1200437 Budd-Chiari syndrome skos:closeMatch MONDO:0010947 Budd-Chiari syndrome semapv:ManualMappingCuration +NANDO:1200438 Idiopathic portal hypertension skos:closeMatch MONDO:0021969 Banti syndrome semapv:ManualMappingCuration +NANDO:1200439 Primary biliary cholangitis skos:closeMatch MONDO:0005388 primary biliary cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:closeMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:closeMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200441 Autoimmune hepatitis skos:closeMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200442 Typical autoimmune hepatitis skos:closeMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200444 Crohn's disease skos:closeMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200445 small bowel Crohn disease skos:closeMatch MONDO:0005539 small bowel Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:closeMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:closeMatch MONDO:0005532 Crohn's colitis semapv:ManualMappingCuration +NANDO:1200447 Crohn ileocolitis skos:closeMatch MONDO:0005534 ileocolitis semapv:ManualMappingCuration +NANDO:1200449 Ulcerative colitis skos:closeMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:1200450 Pan-ulcerative colitis skos:closeMatch MONDO:0005536 pancolitis semapv:ManualMappingCuration +NANDO:1200451 Left-sided colitis skos:closeMatch MONDO:0005533 distal colitis semapv:ManualMappingCuration +NANDO:1200454 Eosinophilic gastrointestinal disorders skos:closeMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:1200456 Eosinophilic esophagitis skos:closeMatch MONDO:0005361 eosinophilic esophagitis semapv:ManualMappingCuration +NANDO:1200457 Eosinophilic gastroenteritis skos:closeMatch MONDO:0016129 eosinophilic gastroenteritis semapv:ManualMappingCuration +NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:closeMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:1200460 Congenital isolated hypoganglionosis skos:closeMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:1200461 Rubinstein-Taybi syndrome skos:closeMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:1200462 CFC Syndrome skos:closeMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:1200463 Costello syndrome skos:closeMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:1200464 CHARGE syndrome skos:closeMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:1200465 Cryopyrin-associated periodic syndrome skos:closeMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:1200466 Familial cold autoinflammatorysyndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200467 Muckle-Wells syndrome skos:closeMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:closeMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:1200469 Juvenile idiopathic arthritis skos:closeMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200470 Systemic juvenile idiopathic arthritis skos:closeMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:closeMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:closeMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:1200473 Atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200476 Blau syndrome skos:closeMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:1200477 Congenital myopathy skos:closeMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:1200478 Nemaline myopathy skos:closeMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:1200479 Central core disease skos:closeMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:1200481 Myotubular myopathy skos:closeMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:closeMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:closeMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200483 Congenital fiber-type disproportion myopathy skos:closeMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:1200485 Marinesco-Sjogren syndrome skos:closeMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200486 Muscular dystrophy skos:closeMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:1200487 Dystrophinopathies skos:closeMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:ManualMappingCuration +NANDO:1200488 Duchenne muscular dystrophy skos:closeMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:1200489 Becker muscular dystrophy skos:closeMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:1200490 Limb-girdle muscular dystrophy skos:closeMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:closeMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:closeMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:1200493 Oculopharyngeal muscular dystrophy skos:closeMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:ManualMappingCuration +NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:closeMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:1200495 Myotonic dystrophy skos:closeMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:1200496 Non-dystrophic myotonia skos:closeMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:ManualMappingCuration +NANDO:1200497 Myotonia congenita skos:closeMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200498 Thomsen disease skos:closeMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200499 Becker disease skos:closeMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:ManualMappingCuration +NANDO:1200500 Sodium channel myotonia skos:closeMatch MONDO:0018959 potassium-aggravated myotonia semapv:ManualMappingCuration +NANDO:1200501 Paramyotonia congenita skos:closeMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:ManualMappingCuration +NANDO:1200502 Hereditary periodic paralysis skos:closeMatch MONDO:0000995 familial periodic paralysis semapv:ManualMappingCuration +NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:closeMatch MONDO:0008223 hypokalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:closeMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200506 Syringomyelia skos:closeMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200507 Symptomatic syringomyelia skos:closeMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:closeMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:closeMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:1200510 Isaacs syndrome skos:closeMatch MONDO:0019399 Isaac syndrome semapv:ManualMappingCuration +NANDO:1200511 Hereditary dystonia skos:closeMatch MONDO:0044807 inherited dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:closeMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:closeMatch MONDO:0044808 obsolete early onset primary dystonia semapv:ManualMappingCuration +NANDO:1200513 Dystonia 2 skos:closeMatch MONDO:0009141 torsion dystonia 2 semapv:ManualMappingCuration +NANDO:1200514 Dystonia 3 skos:closeMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:ManualMappingCuration +NANDO:1200515 Dystonia 4 skos:closeMatch MONDO:0007493 torsion dystonia 4 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:closeMatch MONDO:0007495 dystonia 5 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:closeMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:1200517 Dystonia 6 skos:closeMatch MONDO:0011264 torsion dystonia 6 semapv:ManualMappingCuration +NANDO:1200518 Dystonia 7 skos:closeMatch MONDO:0011200 torsion dystonia 7 semapv:ManualMappingCuration +NANDO:1200519 Dystonia 8 skos:closeMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200520 Dystonia 9 skos:closeMatch MONDO:0010983 dystonia 9 semapv:ManualMappingCuration +NANDO:1200521 Dystonia 10 skos:closeMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200522 Dystonia 11 skos:closeMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:ManualMappingCuration +NANDO:1200523 Dystonia 12 skos:closeMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:closeMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200525 Alternating hemiplegia of childhood skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:closeMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:ManualMappingCuration +NANDO:1200527 Dystonia 13 skos:closeMatch MONDO:0011886 torsion dystonia 13 semapv:ManualMappingCuration +NANDO:1200528 Dystonia 15 skos:closeMatch MONDO:0011844 myoclonic dystonia 15 semapv:ManualMappingCuration +NANDO:1200529 Dystonia 16 skos:closeMatch MONDO:0012789 dystonia 16 semapv:ManualMappingCuration +NANDO:1200530 Dystonia 17 skos:closeMatch MONDO:0012895 torsion dystonia 17 semapv:ManualMappingCuration +NANDO:1200531 Dystonia 18 skos:closeMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:ManualMappingCuration +NANDO:1200532 Dystonia 19 skos:closeMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200533 Dystonia 20 skos:closeMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:closeMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:closeMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:closeMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:closeMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:ManualMappingCuration +NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:closeMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:ManualMappingCuration +NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:closeMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:closeMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:closeMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:closeMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:closeMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200542 Neuroferritinopathy skos:closeMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200543 Superficial siderosis skos:closeMatch MONDO:0016594 superficial siderosis semapv:ManualMappingCuration +NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch MONDO:0010829 CARASIL syndrome semapv:ManualMappingCuration +NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:closeMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:closeMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:ManualMappingCuration +NANDO:1200547 Perry syndrome skos:closeMatch MONDO:0008201 Perry syndrome semapv:ManualMappingCuration +NANDO:1200548 Frontotemporal lobar degeneration skos:closeMatch MONDO:0017276 frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200549 Behavioral variant frontotemporal dementia skos:closeMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200550 Semantic dementia skos:closeMatch MONDO:0010857 semantic dementia semapv:ManualMappingCuration +NANDO:1200551 Bickerstaff's brainstem encephalitis skos:closeMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:ManualMappingCuration +NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:closeMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:1200554 Alexander disease skos:closeMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:1200555 Alexander disease type I skos:closeMatch MONDO:0018209 Alexander disease type I semapv:ManualMappingCuration +NANDO:1200556 Alexander disease type II skos:closeMatch MONDO:0018210 Alexander disease type II semapv:ManualMappingCuration +NANDO:1200558 Congenital suprabulbar paresis skos:closeMatch MONDO:0008503 Worster-Drought syndrome semapv:ManualMappingCuration +NANDO:1200559 Moebius syndrome skos:closeMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:closeMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:closeMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:closeMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:ManualMappingCuration +NANDO:1200562 Aicardi syndrome skos:closeMatch MONDO:0010568 Aicardi syndrome semapv:ManualMappingCuration +NANDO:1200563 Hemimegalencephaly skos:closeMatch MONDO:0020492 hemimegalencephaly semapv:ManualMappingCuration +NANDO:1200564 Focal cortical dysplasia skos:closeMatch MONDO:0019009 isolated focal cortical dysplasia semapv:ManualMappingCuration +NANDO:1200565 Focal cortical dysplasia type 1a skos:closeMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:ManualMappingCuration +NANDO:1200566 Focal cortical dysplasia type 1b skos:closeMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:ManualMappingCuration +NANDO:1200567 Focal cortical dysplasia type 1c skos:closeMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:ManualMappingCuration +NANDO:1200574 Neuronal migration defects skos:closeMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:closeMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:1200576 Pelizaeus-Merzbacher disease skos:closeMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:1200577 Pelizaeus-Merzbacher like disease skos:closeMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:closeMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:1200579 18q-syndrome skos:closeMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:1200580 Allan-Herndon-Dudley syndrome skos:closeMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:closeMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:1200582 Salla disease skos:closeMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:closeMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:1200584 Hypomyelination and congenital cataract skos:closeMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:closeMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:closeMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:1200587 Dravet syndrome skos:closeMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:closeMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:ManualMappingCuration +NANDO:1200589 Myoclonic absence epilepsy skos:closeMatch MONDO:0019487 epilepsy with myoclonic absences semapv:ManualMappingCuration +NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:closeMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:ManualMappingCuration +NANDO:1200591 Lennox-Gastaut syndrome skos:closeMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:1200592 West syndrome skos:closeMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:1200593 Ohtahara syndrome skos:closeMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:ManualMappingCuration +NANDO:1200594 Early myoclonic encephalopathy skos:closeMatch MONDO:0016022 early myoclonic encephalopathy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:closeMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:closeMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:ManualMappingCuration +NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:closeMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:ManualMappingCuration +NANDO:1200597 Ring chromosome 20 syndrome skos:closeMatch MONDO:0015436 ring chromosome 20 semapv:ManualMappingCuration +NANDO:1200598 Rasmussen's encephalitis skos:closeMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:1200599 PCDH19-related syndrome skos:closeMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:ManualMappingCuration +NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:closeMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:closeMatch MONDO:0019123 continuous spikes and waves during sleep semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:closeMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:ManualMappingCuration +NANDO:1200602 Landau-Kleffner syndrome skos:closeMatch MONDO:0009509 Landau-Kleffner syndrome semapv:ManualMappingCuration +NANDO:1200603 Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200604 Typical Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200605 Atypical Rett syndrome skos:closeMatch MONDO:0017746 atypical Rett syndrome semapv:ManualMappingCuration +NANDO:1200606 Sturge-Weber syndrome skos:closeMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:closeMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:closeMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:1200608 Xeroderma pigmentosum skos:closeMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:1200609 Congenital ichthyosis skos:closeMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:1200610 Keratinopathic ichthyosis skos:closeMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:closeMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:closeMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200613 Superficial epidermolytic ichthyosis skos:closeMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200614 Harlequin ichthyosis skos:closeMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:closeMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:1200616 Congenital ichthyosiform erythroderma skos:closeMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:closeMatch MONDO:0017778 lamellar ichthyosis semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:closeMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200618 Ichthyosis syndrome skos:closeMatch MONDO:0019269 ichthyosis semapv:ManualMappingCuration +NANDO:1200619 Netherton syndrome skos:closeMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200620 Sjögren-Larsson syndrome skos:closeMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:closeMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:closeMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200624 Multiple sulfatase deficiency skos:closeMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200625 Recessive X-linked ichtyosis skos:closeMatch MONDO:0010622 recessive X-linked ichthyosis semapv:ManualMappingCuration +NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:closeMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200627 Trichothiodystrophy skos:closeMatch MONDO:0018053 trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200628 Ichthyosis follicularis skos:closeMatch MONDO:0043094 ichthyosis, follicular semapv:ManualMappingCuration +NANDO:1200629 CHILD syndrome skos:closeMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:1200630 Conradi Hünermann Happle syndrome skos:closeMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:1200631 Benign familial pemphigus skos:closeMatch MONDO:0008218 Hailey-Hailey disease semapv:ManualMappingCuration +NANDO:1200633 Bullous pemphigoid skos:closeMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200634 Mucous membrane pemphigoid skos:closeMatch MONDO:0018746 mucous membrane pemphigoid semapv:ManualMappingCuration +NANDO:1200635 Epidermolysis bullosa acquisita skos:closeMatch MONDO:0018747 acquired epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200637 Oculocutaneous albinism skos:closeMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200638 Hermansky-Pudlak syndrome skos:closeMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:ManualMappingCuration +NANDO:1200639 Chédiak-Higashi syndrome skos:closeMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200640 Griscelli syndrome skos:closeMatch MONDO:0018306 Griscelli syndrome semapv:ManualMappingCuration +NANDO:1200641 Non-syndromic oculocutaneous albinism skos:closeMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:closeMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:closeMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:1200643 Pseudoxanthoma elasticum skos:closeMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:ManualMappingCuration +NANDO:1200644 Marfan syndrome skos:closeMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:1200645 Ehlers-Danlos Syndrome skos:closeMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:closeMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:closeMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:closeMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:1200653 Menkes disease skos:closeMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:1200654 Occipital horn syndrome skos:closeMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:1200655 Wilson disease skos:closeMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:1200656 Hypophosphatasia skos:closeMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:1200657 VATER syndrome skos:closeMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:1200658 Nasu-Hakola disease skos:closeMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:ManualMappingCuration +NANDO:1200659 Weaver syndrome skos:closeMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:1200660 Coffin-Lowry syndrome skos:closeMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:1200661 Joubert syndrome and related disorders skos:closeMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:1200662 Arima syndrome skos:closeMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:ManualMappingCuration +NANDO:1200663 Mowat-Wilson syndrome skos:closeMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:1200664 Williams syndrome skos:closeMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:1200665 ATR-X syndrome skos:closeMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:1200666 Crouzon's syndrome skos:closeMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:1200667 Apert syndrome skos:closeMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:closeMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:closeMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:1200669 Antley-Bixler syndrome skos:closeMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:1200670 Coffin-Siris syndrome skos:closeMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:1200671 Rothmund-Thomson syndrome skos:closeMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:ManualMappingCuration +NANDO:1200672 Kabuki syndrome skos:closeMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:closeMatch MONDO:0007029 branchio-oto-renal syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:closeMatch MONDO:0018878 branchiootic syndrome semapv:ManualMappingCuration +NANDO:1200676 Werner syndrome skos:closeMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:1200677 Cockayne syndrome skos:closeMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:1200678 Prader-Willi syndrome skos:closeMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:1200679 Sotos syndrome skos:closeMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:1200680 Noonan syndrome skos:closeMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:1200681 Young-Simpson syndrome skos:closeMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:1200682 1p36 deletion syndrome skos:closeMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:ManualMappingCuration +NANDO:1200683 4p deletion syndrome skos:closeMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:1200684 5p deletion syndrome skos:closeMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:closeMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:ManualMappingCuration +NANDO:1200686 Angelman syndrome skos:closeMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:1200687 Smith-Magenis syndrome skos:closeMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:closeMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:closeMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:closeMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200689 Emanuel syndrome skos:closeMatch MONDO:0012176 Emanuel syndrome semapv:ManualMappingCuration +NANDO:1200690 Fragile X syndrome related diseases skos:closeMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200691 Fragile X tremor/ataxia syndrome skos:closeMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200692 Fragile X syndrome skos:closeMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:1200698 Corrected transposition of great arteries skos:closeMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200699 Complete transposition of the great arteries skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200704 Single ventricle skos:closeMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:1200705 Hypoplastic left heart syndrome skos:closeMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:1200706 Tricuspid atresia skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:closeMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:closeMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:1200709 Tetralogy of Fallot skos:closeMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:1200710 Double outlet right ventricle skos:closeMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:1200711 Ebstein's anomaly skos:closeMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:1200712 Alport's syndrome skos:closeMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:1200713 Galloway-Mowat syndrome skos:closeMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:closeMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:closeMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:closeMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:closeMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200718 Goodpasture syndrome skos:closeMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200719 Primary nephrotic syndrome skos:closeMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:ManualMappingCuration +NANDO:1200720 Minimal change nephrotic syndrome skos:closeMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:1200721 Membranous nephropathy skos:closeMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:1200722 Focal segmental glomerulosclerosis skos:closeMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:closeMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:closeMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:closeMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:closeMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:closeMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:closeMatch MONDO:0019736 dense deposit disease semapv:ManualMappingCuration +NANDO:1200741 Henoch-Schonlein purpura nephritis skos:closeMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:ManualMappingCuration +NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:closeMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:1200743 Interstitial cystitis (Hunner type) skos:closeMatch MONDO:0018301 interstitial cystitis semapv:ManualMappingCuration +NANDO:1200744 Osler disease skos:closeMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:1200745 Bronchiolitis obliterans skos:closeMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:closeMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:closeMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:closeMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:closeMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:closeMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200750 Congenital alveolar proteinosis skos:closeMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200752 Obesity hypoventilation syndrome skos:closeMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200753 Congenital central hypoventilation syndrome skos:closeMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200755 Alpha-1-antitrypsin deficiency skos:closeMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:1200756 Carney complex skos:closeMatch MONDO:0015285 Carney complex semapv:ManualMappingCuration +NANDO:1200757 Wolfram syndrome skos:closeMatch MONDO:0018105 Wolfram syndrome semapv:ManualMappingCuration +NANDO:1200758 Peroxisomal disorder skos:closeMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:1200759 Peroxisome biogenesis disorders skos:closeMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:1200760 Zellweger syndrome skos:closeMatch MONDO:0019609 Zellweger spectrum disorders semapv:ManualMappingCuration +NANDO:1200761 Neonatal adrenoleukodystrophy skos:closeMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200762 Infantile Refsum disease skos:closeMatch MONDO:0019174 obsolete infantile Refsum disease semapv:ManualMappingCuration +NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:closeMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:ManualMappingCuration +NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:closeMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:ManualMappingCuration +NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:closeMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:ManualMappingCuration +NANDO:1200766 D-bifunctional protein deficiency skos:closeMatch MONDO:0009855 d-bifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200767 Sterol carrier protein 2 deficiency skos:closeMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:ManualMappingCuration +NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:closeMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:ManualMappingCuration +NANDO:1200769 Refsum disease skos:closeMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:closeMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:ManualMappingCuration +NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:closeMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:ManualMappingCuration +NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:closeMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:ManualMappingCuration +NANDO:1200773 Primary hyperoxaluria type 1 skos:closeMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:ManualMappingCuration +NANDO:1200774 Acatalasemia skos:closeMatch MONDO:0013571 acatalasia semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:closeMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:closeMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200776 Pseudohypoparathyroidism skos:closeMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:closeMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:closeMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:ManualMappingCuration +NANDO:1200780 Vitamin D-resistant osteomalacia skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:closeMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:closeMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:ManualMappingCuration +NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:closeMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:ManualMappingCuration +NANDO:1200784 Phenylketonuria skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200785 Phenylalanine hydroxylase deficiency skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200786 Tetrahydrobiopterin deficiency skos:closeMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:closeMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:1200788 Tyrosinemia type 1 skos:closeMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:1200789 Tyrosinemia type 2 skos:closeMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:1200790 Tyrosinemia type 3 skos:closeMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:1200791 Maple syrup urine disease skos:closeMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:1200792 Propionic acidemia skos:closeMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:1200793 Methylmalonic acidemia skos:closeMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:closeMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualMappingCuration +NANDO:1200795 Methylmalonic acidemia cblA type skos:closeMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:1200796 Methylmalonic acidemia cblB type skos:closeMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:1200797 Methylmalonic acidemia CblD type skos:closeMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:1200798 Isovaleric acidemia skos:closeMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:closeMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:closeMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:1200800 Glutaric acidemia type 1 skos:closeMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200801 Glutaric acidemia type 2 skos:closeMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200802 Urea cycle disorder skos:closeMatch MONDO:0004739 urea cycle disorder semapv:ManualMappingCuration +NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:closeMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:1200804 Ornithine transcarbamylase deficiency skos:closeMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:1200805 Classic citrullinemia skos:closeMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:1200806 Argininosuccinic aciduria skos:closeMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:1200807 Argininemia skos:closeMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:1200808 NAGS deficiency skos:closeMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:1200809 Lysinuric protein intolerance skos:closeMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:1200810 Hereditary folate malabsorption skos:closeMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:1200811 Porphyria skos:closeMatch MONDO:0037939 porphyria semapv:ManualMappingCuration +NANDO:1200812 Acute intermittent porphyria skos:closeMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:1200813 Hereditary coproporphyria skos:closeMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:1200814 Variegate porphyria skos:closeMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:closeMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:closeMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:closeMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200816 Porphyria cutanea tarda skos:closeMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:1200818 X-linked dominant protoporphyria skos:closeMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200819 Hepatoerythropoietic porphyria skos:closeMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:1200820 Multiple carboxylase deficiency skos:closeMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:1200821 Holocarboxylase synthetase deficiency skos:closeMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:ManualMappingCuration +NANDO:1200822 Biotinidase deficiency skos:closeMatch MONDO:0009665 biotinidase deficiency semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:closeMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:closeMatch MONDO:0016118 obsolete muscular glycogenosis semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:closeMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200825 Glycogen storage diseases type II skos:closeMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200826 Glycogen storage diseases type III skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:closeMatch MONDO:0008222 Andersen-Tawil syndrome semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:closeMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200828 Glycogen storage diseases type V skos:closeMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:1200829 Glycogen storage diseases type VII skos:closeMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200830 Glycogen storage diseases type IXd skos:closeMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:1200832 Glycogen storage diseases type X skos:closeMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:ManualMappingCuration +NANDO:1200833 Glycogen storage diseases type XI skos:closeMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:ManualMappingCuration +NANDO:1200834 Glycogen storage diseases type XII skos:closeMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:ManualMappingCuration +NANDO:1200835 Glycogen storage diseases type XIII skos:closeMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:ManualMappingCuration +NANDO:1200836 Glycogen storage diseases type XIV skos:closeMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:ManualMappingCuration +NANDO:1200837 Glycogen storage diseases type XV skos:closeMatch MONDO:0013291 glycogen storage disease XV semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:closeMatch MONDO:0002412 disorder of glycogen metabolism semapv:ManualMappingCuration +NANDO:1200840 Hepatic glycogen storage disease type Ia skos:closeMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:closeMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:closeMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:ManualMappingCuration +NANDO:1200844 Hepatic GSD type IIIc skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200846 Hepatic glycogen storage disease type VI skos:closeMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:1200847 Hepatic glycogen storage disease type IXa skos:closeMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:1200848 Hepatic glycogen storage disease type IXb skos:closeMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:1200849 Hepatic glycogen storage disease type IXc skos:closeMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:1200850 Hepatic glycogen storage disease type IV skos:closeMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:closeMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:closeMatch MONDO:0009515 Norum disease semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:closeMatch MONDO:0018999 LCAT deficiency semapv:ManualMappingCuration +NANDO:1200853 Sitosterolemia skos:closeMatch MONDO:0008863 sitosterolemia semapv:ManualMappingCuration +NANDO:1200854 Tangier disease skos:closeMatch MONDO:0008783 Tangier disease semapv:ManualMappingCuration +NANDO:1200856 Cerebrotendinous xanthomatosis skos:closeMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:ManualMappingCuration +NANDO:1200857 Abetalipoproteinemia skos:closeMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:1200858 Lipodystrophy skos:closeMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:closeMatch MONDO:0006536 congenital generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:closeMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:1200860 Acquired generalized lipodystrophy skos:closeMatch MONDO:0019193 acquired generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200861 Familial partial lipodystrophy skos:closeMatch MONDO:0020088 familial partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200862 Acquired partial lipodystrophy skos:closeMatch MONDO:0012104 acquired partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200863 Familial Mediterranean fever skos:closeMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200864 Typical familial Mediterranean fever skos:closeMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:closeMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:closeMatch MONDO:0012481 mevalonic aciduria semapv:ManualMappingCuration +NANDO:1200867 Nakajo-Nishimura syndrome skos:closeMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:closeMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:1200870 Ankylosing spondylitis skos:closeMatch MONDO:0005306 ankylosing spondylitis semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:1200873 Osteogenesis imperfecta skos:closeMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:1200874 Thanatophoric dysplasia skos:closeMatch MONDO:0017042 thanatophoric dysplasia semapv:ManualMappingCuration +NANDO:1200875 Thanatophoric dysplasia type 1 skos:closeMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:ManualMappingCuration +NANDO:1200876 Thanatophoric dysplasia type 2 skos:closeMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:ManualMappingCuration +NANDO:1200877 Achondroplasia skos:closeMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:closeMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:closeMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200879 obsolete Lymphangiomatosis skos:closeMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:closeMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:closeMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:closeMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:ManualMappingCuration +NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:closeMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:1200885 Congenital dyserythropoietic anemia skos:closeMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:1200886 Congenital dyserythropoietic anemia type I skos:closeMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:ManualMappingCuration +NANDO:1200887 Congenital dyserythropoietic anemia type II skos:closeMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:ManualMappingCuration +NANDO:1200888 Congenital dyserythropoietic anemia type III skos:closeMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:ManualMappingCuration +NANDO:1200890 Diamond-Blackfan anemia skos:closeMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:1200891 Fanconi anemia skos:closeMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200893 Epstein syndrome skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:closeMatch MONDO:0020599 acquired coagulation factor deficiency semapv:ManualMappingCuration +NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:closeMatch MONDO:0021133 acquired factor XIII deficiency semapv:ManualMappingCuration +NANDO:1200898 Acquired hemophilia A skos:closeMatch MONDO:0019139 acquired hemophilia semapv:ManualMappingCuration +NANDO:1200899 Acquired von Willebrand disease skos:closeMatch MONDO:0020460 acquired von willebrand syndrome semapv:ManualMappingCuration +NANDO:1200901 Cronkhite-Canada syndrome skos:closeMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:ManualMappingCuration +NANDO:1200903 Hirschsprung disease skos:closeMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:1200909 Cloacal exstrophy skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200910 Persistent cloaca skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200911 Congenital diaphragmatic hernia skos:closeMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:closeMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:closeMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:1200918 Alagille syndrome skos:closeMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200919 Typical Alagille syndrome skos:closeMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200921 Hereditary pancreatitis skos:closeMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:1200922 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1200923 IgG4-related disease skos:closeMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200924 IgG4-related disease skos:closeMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200925 Autoimmune pancreatitis skos:closeMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:1200928 IgG4-related sclerosing cholangitis skos:closeMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:ManualMappingCuration +NANDO:1200930 IgG4-related kidney disease skos:closeMatch MONDO:0018671 IgG4-related kidney disease semapv:ManualMappingCuration +NANDO:1200931 Macular dystrophy skos:closeMatch MONDO:0020242 hereditary macular dystrophy semapv:ManualMappingCuration +NANDO:1200932 Vitelliform macular dystrophy skos:closeMatch MONDO:0000390 vitelliform macular dystrophy semapv:ManualMappingCuration +NANDO:1200933 Stargardt disease skos:closeMatch MONDO:0019353 Stargardt disease semapv:ManualMappingCuration +NANDO:1200934 Occult macular dystrophy skos:closeMatch MONDO:0013316 occult macular dystrophy semapv:ManualMappingCuration +NANDO:1200936 Cone dystrophy skos:closeMatch MONDO:0000455 cone dystrophy semapv:ManualMappingCuration +NANDO:1200937 Cone-rod dystrophy skos:closeMatch MONDO:0015993 cone-rod dystrophy semapv:ManualMappingCuration +NANDO:1200938 X-linked juvenile retinoschisis skos:closeMatch MONDO:0010725 X-linked retinoschisis semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:closeMatch MONDO:0004890 partial central choroid dystrophy semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:closeMatch MONDO:0008982 central areolar choroidal dystrophy semapv:ManualMappingCuration +NANDO:1200940 Leber hereditary optic neuropathy skos:closeMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200941 Usher syndrome skos:closeMatch MONDO:0019501 Usher syndrome semapv:ManualMappingCuration +NANDO:1200942 Usher syndrome type I skos:closeMatch MONDO:0010168 Usher syndrome type 1 semapv:ManualMappingCuration +NANDO:1200943 Usher syndrome Type II skos:closeMatch MONDO:0016484 Usher syndrome type 2 semapv:ManualMappingCuration +NANDO:1200944 Usher syndrome Type III skos:closeMatch MONDO:0016485 Usher syndrome type 3 semapv:ManualMappingCuration +NANDO:1200948 Canavan disease skos:closeMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:closeMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:1200951 Vanishing white matter disease skos:closeMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:closeMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:ManualMappingCuration +NANDO:1200953 Progressive myoclonus epilepsy skos:closeMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:1200954 Unverricht-Lundborg disease skos:closeMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:1200955 Lafora disease skos:closeMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:1200956 Benign adult familial myoclonus epilepsy skos:closeMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:ManualMappingCuration +NANDO:1200957 Congenital anomalies syndrome skos:closeMatch MONDO:0000839 obsolete congenital abnormality semapv:ManualMappingCuration +NANDO:1200958 Partial trisomy 1q skos:closeMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:ManualMappingCuration +NANDO:1200959 9q34 deletion syndrome skos:closeMatch MONDO:0012455 Kleefstra syndrome semapv:ManualMappingCuration +NANDO:1200960 Cornelia de lange syndrome skos:closeMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:1200961 Smith-lemli-opitz syndrome skos:closeMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:closeMatch MONDO:0019813 congenital tricuspid stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:closeMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:closeMatch MONDO:0020398 congenital mitral stenosis semapv:ManualMappingCuration +NANDO:1200964 Congenital pulmonary vein stenosis skos:closeMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:1200967 Nail-patella syndrome skos:closeMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:1200969 Carnitine cycle disorders skos:closeMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:ManualMappingCuration +NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:closeMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:closeMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:1200973 Systemic primary carnitine deficiency skos:closeMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:1200974 Trifunctional protein deficiency skos:closeMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200978 Citrin deficiency skos:closeMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:closeMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:closeMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:closeMatch MONDO:0016603 citrullinemia type II semapv:ManualMappingCuration +NANDO:1200982 Sepiapterin reductase deficiency skos:closeMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:ManualMappingCuration +NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:closeMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:ManualMappingCuration +NANDO:1200984 Nonketotic hyperglycinemia skos:closeMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:closeMatch MONDO:0017353 neonatal glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200986 Infantile nonketotic hyperglycinemia skos:closeMatch MONDO:0017354 infantile glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200987 Beta-ketothiolase deficiency skos:closeMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:closeMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:1200989 Methylglutaconic aciduria skos:closeMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:1200990 3-methylglutaconic aciduria type I skos:closeMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:ManualMappingCuration +NANDO:1200991 3-methylglutaconicaciduria type II skos:closeMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:1200992 3-methylglutaconic aciduria type III skos:closeMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:ManualMappingCuration +NANDO:1200994 NLRC4 mutation skos:closeMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200996 Aicardi-Goutières Syndrome skos:closeMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:1200997 A20 haploinsufficiency skos:closeMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:1200998 Osteopetrosis skos:closeMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:1201000 Anterior segment dysgenesis skos:closeMatch MONDO:0019503 anterior segment dysgenesis semapv:ManualMappingCuration +NANDO:1201001 Aniridia skos:closeMatch MONDO:0019172 aniridia semapv:ManualMappingCuration +NANDO:1201003 Congenital tracheal stenosis skos:closeMatch MONDO:0011340 congenital tracheal stenosis semapv:ManualMappingCuration +NANDO:1201004 Congenital subglottic stenosis skos:closeMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:closeMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:ManualMappingCuration +NANDO:1201007 Hutchinson-Gilford syndrome skos:closeMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:1201009 Systemic granulomatosis with polyangiitis skos:closeMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:closeMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:closeMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:closeMatch MONDO:0019563 CREST syndrome semapv:ManualMappingCuration +NANDO:1201018 Hepatic glycogen storage disease type I skos:closeMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1201019 Hepatic glycogen storage disease type III skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1201020 Hepatic glycogen storage disease type IX skos:closeMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:1201021 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1201029 Mesangial proliferative glomerulonephritis skos:closeMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:closeMatch MONDO:0004355 childhood leukemia semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:closeMatch MONDO:0005059 leukemia semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:closeMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:closeMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:closeMatch MONDO:0003659 pediatric lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:closeMatch MONDO:0003660 adult lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:closeMatch MONDO:0005062 lymphoma semapv:ManualMappingCuration +NANDO:2100005 Histiocytosis skos:closeMatch MONDO:0002637 histiocytosis semapv:ManualMappingCuration +NANDO:2100007 Central nervous system tumors skos:closeMatch MONDO:0002714 central nervous system cancer semapv:ManualMappingCuration +NANDO:2100008 Chronic kidney disease skos:closeMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100009 Nephrotic syndrome skos:closeMatch MONDO:0005377 nephrotic syndrome semapv:ManualMappingCuration +NANDO:2100012 Chronic pyelonephritis skos:closeMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:closeMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2100015 Nephronophthisis skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:closeMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:closeMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2100019 Renal tubular acidosis skos:closeMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2100020 Gitelman syndrome skos:closeMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2100021 Bartter syndrome skos:closeMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:closeMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:closeMatch MONDO:0024327 chronic renal failure syndrome semapv:ManualMappingCuration +NANDO:2100027 Fanconi syndrome skos:closeMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2100028 Lowe syndrome skos:closeMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2100031 Bronchial asthma skos:closeMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2100032 Congenital central hypoventilation syndrome skos:closeMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2100034 Primary ciliary dyskinesia skos:closeMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2100035 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2100036 Bronchiectasis skos:closeMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:closeMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2100039 Bronchiolitis obliterans skos:closeMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2100040 Congenital diaphragmatic hernia skos:closeMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2100043 Sick sinus syndrome skos:closeMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2100044 Mobitz type II second degree atrioventricular block skos:closeMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2100046 Bundle branch block skos:closeMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2100049 Ventricular tachycardia skos:closeMatch MONDO:0005477 ventricular tachycardia semapv:ManualMappingCuration +NANDO:2100050 Atrial flutter skos:closeMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2100051 Atrial fibrillation skos:closeMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2100052 Ventricular fibrillation skos:closeMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2100053 Long QT syndrome skos:closeMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2100054 Hypertrophic cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:closeMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2100057 Dilated cardiomyopathy skos:closeMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2100058 Restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2100060 Endocardial fibroelastosis skos:closeMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2100061 Cardiac tumor skos:closeMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2100064 Constrictive pericarditis skos:closeMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2100070 Ischemic heart disease skos:closeMatch MONDO:0024644 myocardial ischemia semapv:ManualMappingCuration +NANDO:2100071 Hypoplastic left heart syndrome skos:closeMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2100073 Tricuspid atresia skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2100075 Tetralogy of Fallot skos:closeMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2100076 Double outlet right ventricle skos:closeMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2100077 Double-outlet left ventricle skos:closeMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2100079 Congenitally corrected transposition of the great arteries skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2100080 Ebstein's anomaly skos:closeMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2100082 Aorto-pulmonary window skos:closeMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2100083 Cor triatriatum skos:closeMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2100084 Patent ductus arteriosus skos:closeMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2100085 Atrial septal defect skos:closeMatch MONDO:0006664 atrial septal defect semapv:ManualMappingCuration +NANDO:2100086 Complete atrioventricular septal defect skos:closeMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2100087 Ventricular septal defect skos:closeMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2100090 Left ventricular-right atrial communication skos:closeMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2100092 Subvalvular pulmonary stenosis skos:closeMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2100093 Subvalvular aortic stenosis skos:closeMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2100095 Absent pulmonary valve skos:closeMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2100098 Aortic stenosis skos:closeMatch MONDO:0004978 obsolete aortic stenosis semapv:ManualMappingCuration +NANDO:2100101 Aortic aneurysm skos:closeMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2100103 Pulmonary arterial hypertension skos:closeMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2100105 Valvular heart disease skos:closeMatch MONDO:0002869 heart valve disorder semapv:ManualMappingCuration +NANDO:2100109 Endocrine disease skos:closeMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:2100110 Hypopituitarism skos:closeMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:2100111 Pituitary gigantism skos:closeMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2100112 Acromegaly skos:closeMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2100114 Growth hormone insensitivity skos:closeMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2100115 Hyperprolactinemia skos:closeMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:closeMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2100117 Diabetes insipidus skos:closeMatch MONDO:0004782 diabetes insipidus semapv:ManualMappingCuration +NANDO:2100119 Hyperthyroidism skos:closeMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2100120 Hypothyroidism skos:closeMatch MONDO:0005420 hypothyroidism semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:closeMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:closeMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2100123 Hyperparathyroidism skos:closeMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:closeMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:closeMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100125 Autoimmune polyendocrinopathy skos:closeMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:ManualMappingCuration +NANDO:2100126 Pseudohypoparathyroidism skos:closeMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2100131 Liddle syndrome skos:closeMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2100132 Hypoaldosteronism skos:closeMatch MONDO:0015900 hypoaldosteronism disease semapv:ManualMappingCuration +NANDO:2100133 Pseudohypoaldosteronism skos:closeMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2100134 Congenital adrenal hyperplasia skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2100135 Precocious puberty skos:closeMatch MONDO:0000088 precocious puberty semapv:ManualMappingCuration +NANDO:2100138 Hypogonadotropic hypogonadism skos:closeMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2100139 Hypergonadotropic hypogonadism skos:closeMatch MONDO:0005387 primary ovarian failure semapv:ManualMappingCuration +NANDO:2100140 Disorders of sex development skos:closeMatch MONDO:0002145 disorder of sexual differentiation semapv:ManualMappingCuration +NANDO:2100142 Glucagonoma skos:closeMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:closeMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:closeMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2100144 Vitamin D-dependent rickets skos:closeMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2100147 Lipodystrophy skos:closeMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2100148 Multiple endocrine neoplasia skos:closeMatch MONDO:0017169 multiple endocrine neoplasia semapv:ManualMappingCuration +NANDO:2100149 Polycystic ovary syndrome skos:closeMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2100151 Collagen disease skos:closeMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100152 Collagen disease skos:closeMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100154 Relapsing Polychondritis skos:closeMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2100156 Autoinflammatory disease skos:closeMatch MONDO:0019751 autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2100157 Diabetes skos:closeMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100158 Diabetes skos:closeMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100159 Inborn errors of metabolism skos:closeMatch MONDO:0019052 inborn errors of metabolism semapv:ManualMappingCuration +NANDO:2100160 Disorder of amino acid metabolism skos:closeMatch MONDO:0037871 amino acid metabolism disease semapv:ManualMappingCuration +NANDO:2100161 Disorder of organic acid metabolism skos:closeMatch MONDO:0045022 disorder of organic acid metabolism semapv:ManualMappingCuration +NANDO:2100162 Disorder of fatty-acid metabolism skos:closeMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:closeMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:closeMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:closeMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:closeMatch MONDO:0037792 carbohydrate metabolism disease semapv:ManualMappingCuration +NANDO:2100165 Lysosomal storage disease skos:closeMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:2100166 Peroxisomal disorder skos:closeMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:2100172 Connective tissue disorder skos:closeMatch MONDO:0003900 connective tissue disorder semapv:ManualMappingCuration +NANDO:2100174 Alpha-1-antitrypsin deficiency skos:closeMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2100175 Blood disease skos:closeMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:2100176 Megaloblastic anemia skos:closeMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2100177 Pure red cell aplasia skos:closeMatch MONDO:0001705 pure red-cell aplasia semapv:ManualMappingCuration +NANDO:2100178 Congenital dyserythropoietic anemia skos:closeMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2100179 Sideroblastic anemia skos:closeMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2100180 Congenital atransferrinemia skos:closeMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2100181 Autoimmune hemolytic anemia skos:closeMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2100183 Hereditary hemolytic anemia skos:closeMatch MONDO:0003689 familial hemolytic anemia semapv:ManualMappingCuration +NANDO:2100186 Polycythemia vera skos:closeMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2100187 Familial polycythemia skos:closeMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2100188 Thrombocytopenic purpura skos:closeMatch MONDO:0043768 thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100189 Thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100192 Cyclic thrombocytopenia skos:closeMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2100193 May-Hegglin anomaly skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2100194 Essential thrombocythemia skos:closeMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2100197 Protein C deficiency skos:closeMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2100198 Protein S deficiency skos:closeMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2100200 Myelofibrosis skos:closeMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2100201 Aplastic anemia skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2100202 Immune system disease skos:closeMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:closeMatch MONDO:0015131 combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:closeMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:closeMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:closeMatch MONDO:0021094 immunodeficiency disease semapv:ManualMappingCuration +NANDO:2100212 Acquired immune deficiency syndrome skos:closeMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2100213 Chronic graft-versus-host disease skos:closeMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2100214 Neuromuscular disease skos:closeMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:closeMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:closeMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2100216 Sacrococcygeal teratoma skos:closeMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2100217 Brain malformation skos:closeMatch MONDO:0016054 cerebral malformation semapv:ManualMappingCuration +NANDO:2100218 Joubert syndrome related disorders skos:closeMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2100219 Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2100220 Neurocutaneous syndrome skos:closeMatch MONDO:0042983 neurocutaneous syndrome semapv:ManualMappingCuration +NANDO:2100221 Progeroid syndromes skos:closeMatch MONDO:0015333 progeroid syndrome semapv:ManualMappingCuration +NANDO:2100223 ATR-X syndrome skos:closeMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2100224 Fragile X syndrome skos:closeMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2100226 Cerebral creatine deficiency syndromes skos:closeMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2100227 Craniosynostosis skos:closeMatch MONDO:0015469 craniosynostosis semapv:ManualMappingCuration +NANDO:2100228 Moyamoya disease skos:closeMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2100229 Cerebral arteriovenous malformation skos:closeMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:closeMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:closeMatch MONDO:0019079 proximal spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100233 Muscular dystrophy skos:closeMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:2100234 Congenital myopathy skos:closeMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:2100235 Schwartz-Jampel syndrome skos:closeMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2100237 Progressive myoclonus epilepsy skos:closeMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:2100238 Spinocerebellar degeneration skos:closeMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2100239 Alternating hemiplegia of childhood skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2100240 Dystonia musculorum deformans skos:closeMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2100241 Neurodegeneration with brain iron accumulation skos:closeMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:ManualMappingCuration +NANDO:2100242 Infantile bilateral striatal necrosis skos:closeMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2100244 Aicardi-Goutières Syndrome skos:closeMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2100245 Subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2100246 Rasmussen's encephalitis skos:closeMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2100248 Autoimmune encephalitis skos:closeMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:closeMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2100250 Multiple sclerosis skos:closeMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2100252 Myasthenia gravis skos:closeMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2100255 Microvillus inclusion disease skos:closeMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2100256 Intestinal lymphangiectasia skos:closeMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2100257 Polyposis skos:closeMatch MONDO:0000147 polyposis semapv:ManualMappingCuration +NANDO:2100258 Cyclic vomiting syndrome skos:closeMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2100259 Inflammatory bowel disease skos:closeMatch MONDO:0005265 inflammatory bowel disease semapv:ManualMappingCuration +NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:closeMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2100264 Autoimmune hepatitis skos:closeMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:closeMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:closeMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100267 Congenital hepatic fibrosis skos:closeMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2100268 Liver cirrhosis skos:closeMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2100272 Crigler-Najjar syndrome skos:closeMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2100274 Short bowel syndrome skos:closeMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2100279 Chromosome abnormality skos:closeMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100280 Chromosome abnormality skos:closeMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100281 Skin disease skos:closeMatch MONDO:0005093 skin disorder semapv:ManualMappingCuration +NANDO:2100283 Congenital ichthyosis skos:closeMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:2100284 Epidermolysis bullosa skos:closeMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2100285 Pustular psoriasis skos:closeMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2100286 Xeroderma pigmentosum skos:closeMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2100287 von Recklinghausen's disease skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:closeMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:closeMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2100290 Stevens-Johnson syndrome skos:closeMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2100291 Bone disease skos:closeMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100293 Bone disease skos:closeMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100294 Vascular disease skos:closeMatch MONDO:0005385 vascular disorder semapv:ManualMappingCuration +NANDO:2100295 Vascular malformation skos:closeMatch MONDO:0024291 vascular malformation semapv:ManualMappingCuration +NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:closeMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2100297 Kasabach-Merritt syndrome skos:closeMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:closeMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:closeMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200003 T-cell lymphoblastic leukemia skos:closeMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:closeMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:ManualMappingCuration +NANDO:2200005 Acute myeloid leukemia without maturation skos:closeMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:ManualMappingCuration +NANDO:2200006 Acute myeloid leukemia with maturation skos:closeMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:ManualMappingCuration +NANDO:2200007 Acute promyelocytic leukemia skos:closeMatch MONDO:0012883 acute promyelocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:closeMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:closeMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:closeMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:closeMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200010 Acute erythremia skos:closeMatch MONDO:0017858 acute erythroid leukemia semapv:ManualMappingCuration +NANDO:2200011 Acute megakaryoblastic leukemia skos:closeMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:ManualMappingCuration +NANDO:2200012 NK cell leukemia skos:closeMatch MONDO:0019470 aggressive NK-cell leukemia semapv:ManualMappingCuration +NANDO:2200013 Chronic myeloid leukemia skos:closeMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:closeMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:closeMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200015 Juvenile myelomonocytic leukemia skos:closeMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:closeMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:closeMatch MONDO:0020321 acute undifferentiated leukemia semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:closeMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:closeMatch MONDO:0020743 mixed phenotype acute leukemia semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:closeMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:closeMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200020 Mature B-cell lymphoma skos:closeMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:2200021 Anaplastic large cell lymphoma skos:closeMatch MONDO:0020325 anaplastic large cell lymphoma semapv:ManualMappingCuration +NANDO:2200022 Precursor B lymphoblastic lymphoma skos:closeMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200023 Precursor T lymphoblastic lymphoma skos:closeMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:ManualMappingCuration +NANDO:2200024 Hodgkin lymphoma skos:closeMatch MONDO:0004952 Hodgkins lymphoma semapv:ManualMappingCuration +NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:closeMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:ManualMappingCuration +NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:closeMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:ManualMappingCuration +NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:closeMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:closeMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:closeMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:closeMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:closeMatch MONDO:0018310 Langerhans cell histiocytosis semapv:ManualMappingCuration +NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:closeMatch MONDO:0015540 hemophagocytic syndrome semapv:ManualMappingCuration +NANDO:2200034 Follicular dendritic cell sarcoma skos:closeMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200035 Interdigitating dendritic cell sarcoma skos:closeMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200036 Langerhans cell sarcoma skos:closeMatch MONDO:0019480 Langerhans cell sarcoma semapv:ManualMappingCuration +NANDO:2200037 Juvenile xanthogranuloma skos:closeMatch MONDO:0015534 juvenile xanthogranuloma semapv:ManualMappingCuration +NANDO:2200038 Erdheim-Chester disease skos:closeMatch MONDO:0018153 Erdheim-Chester disease semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:closeMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:closeMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:ManualMappingCuration +NANDO:2200040 Neuroblastoma skos:closeMatch MONDO:0005072 neuroblastoma semapv:ManualMappingCuration +NANDO:2200041 Ganglioneuroblastoma skos:closeMatch MONDO:0005035 ganglioneuroblastoma semapv:ManualMappingCuration +NANDO:2200042 Retinoblastoma skos:closeMatch MONDO:0008380 retinoblastoma semapv:ManualMappingCuration +NANDO:2200043 Wilms tumour skos:closeMatch MONDO:0019004 kidney Wilms tumor semapv:ManualMappingCuration +NANDO:2200044 Clear cell sarcoma of the kidney skos:closeMatch MONDO:0005006 clear cell sarcoma of kidney semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:closeMatch MONDO:0005086 renal cell carcinoma semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:closeMatch MONDO:0005549 renal cell adenocarcinoma semapv:ManualMappingCuration +NANDO:2200046 Hepatoblastoma skos:closeMatch MONDO:0018666 hepatoblastoma semapv:ManualMappingCuration +NANDO:2200047 Hepatocellular carcinoma skos:closeMatch MONDO:0007256 hepatocellular carcinoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:closeMatch MONDO:0002623 pediatric osteosarcoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:closeMatch MONDO:0009807 osteosarcoma semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:closeMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:closeMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2200050 Chondrosarcoma skos:closeMatch MONDO:0008977 chondrosarcoma semapv:ManualMappingCuration +NANDO:2200051 Chondroblastoma skos:closeMatch MONDO:0004997 chondroblastoma semapv:ManualMappingCuration +NANDO:2200052 Malignancy in giant cell tumour of bone skos:closeMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:ManualMappingCuration +NANDO:2200053 Ewing's sarcoma skos:closeMatch MONDO:0012817 Ewing sarcoma semapv:ManualMappingCuration +NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:closeMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200056 Rhabdomyosarcoma skos:closeMatch MONDO:0005212 rhabdomyosarcoma semapv:ManualMappingCuration +NANDO:2200057 Malignant rhabdoid tumour skos:closeMatch MONDO:0002728 rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200058 Undifferentiated sarcoma skos:closeMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:ManualMappingCuration +NANDO:2200059 Desmoplastic small round cell tumors skos:closeMatch MONDO:0019373 desmoplastic small round cell tumor semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:closeMatch MONDO:0002676 adult fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:closeMatch MONDO:0002678 pediatric fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:closeMatch MONDO:0005164 fibrosarcoma semapv:ManualMappingCuration +NANDO:2200061 Synovial sarcoma skos:closeMatch MONDO:0010434 synovial sarcoma semapv:ManualMappingCuration +NANDO:2200062 Clear cell sarcoma skos:closeMatch MONDO:0002926 clear cell sarcoma semapv:ManualMappingCuration +NANDO:2200063 Alveolar soft part sarcoma skos:closeMatch MONDO:0011655 alveolar soft part sarcoma semapv:ManualMappingCuration +NANDO:2200064 Leiomyosarcoma skos:closeMatch MONDO:0005058 leiomyosarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:closeMatch MONDO:0003585 adult liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:closeMatch MONDO:0003587 pediatric liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:closeMatch MONDO:0005060 liposarcoma semapv:ManualMappingCuration +NANDO:2200066 Dysgerminoma skos:closeMatch MONDO:0003002 dysgerminoma semapv:ManualMappingCuration +NANDO:2200067 Embryonal carcinoma skos:closeMatch MONDO:0005440 embryonal carcinoma semapv:ManualMappingCuration +NANDO:2200068 Polyembryoma skos:closeMatch MONDO:0015863 polyembryoma semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:closeMatch MONDO:0005744 yolk sac tumor semapv:ManualMappingCuration +NANDO:2200070 Choriocarcinoma skos:closeMatch MONDO:0005207 choriocarcinoma semapv:ManualMappingCuration +NANDO:2200071 Mixed germ cell tumour skos:closeMatch MONDO:0015864 mixed germ cell tumor semapv:ManualMappingCuration +NANDO:2200072 Sex-cord stromal tumour skos:closeMatch MONDO:0006055 sex cord-stromal tumor semapv:ManualMappingCuration +NANDO:2200073 Adrenocortical carcinoma skos:closeMatch MONDO:0006639 adrenal cortex carcinoma semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:closeMatch MONDO:0002108 thyroid cancer semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:closeMatch MONDO:0015075 thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2200076 Salivary grand carcinoma skos:closeMatch MONDO:0000521 salivary gland carcinoma semapv:ManualMappingCuration +NANDO:2200077 Malignant melanoma skos:closeMatch MONDO:0005105 melanoma semapv:ManualMappingCuration +NANDO:2200078 Pheochromocytoma skos:closeMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:ManualMappingCuration +NANDO:2200079 Malignant thymoma skos:closeMatch MONDO:0006451 thymic carcinoma semapv:ManualMappingCuration +NANDO:2200080 Pleuropulmonaryblastoma skos:closeMatch MONDO:0011014 pleuropulmonary blastoma semapv:ManualMappingCuration +NANDO:2200081 Bronchial tumour skos:closeMatch MONDO:0002807 bronchial neoplasm semapv:ManualMappingCuration +NANDO:2200082 Pancreatoblastoma skos:closeMatch MONDO:0019035 pancreatoblastoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:closeMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:closeMatch MONDO:0016691 pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200085 Diffuse astrocytoma skos:closeMatch MONDO:0016686 diffuse astrocytoma semapv:ManualMappingCuration +NANDO:2200086 Anaplastic astrocytoma skos:closeMatch MONDO:0016684 anaplastic astrocytoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:closeMatch MONDO:0018177 glioblastoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:closeMatch MONDO:0020690 adult glioblastoma semapv:ManualMappingCuration +NANDO:2200088 Ependymoma skos:closeMatch MONDO:0016698 ependymoma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:closeMatch MONDO:0002540 childhood oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:closeMatch MONDO:0002543 adult oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:closeMatch MONDO:0016695 oligodendroglioma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:closeMatch MONDO:0002794 adult medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:closeMatch MONDO:0002797 childhood medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:closeMatch MONDO:0007959 medulloblastoma semapv:ManualMappingCuration +NANDO:2200091 Craniopharyngioma skos:closeMatch MONDO:0018907 craniopharyngioma semapv:ManualMappingCuration +NANDO:2200092 Pineocytoma skos:closeMatch MONDO:0016723 pineocytoma semapv:ManualMappingCuration +NANDO:2200093 Choroid plexus papilloma skos:closeMatch MONDO:0009837 choroid plexus papilloma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:closeMatch MONDO:0003057 pediatric meningioma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:closeMatch MONDO:0016642 meningioma semapv:ManualMappingCuration +NANDO:2200095 Pituitary adenoma skos:closeMatch MONDO:0006373 pituitary gland adenoma semapv:ManualMappingCuration +NANDO:2200096 Ganglioglioma skos:closeMatch MONDO:0016733 ganglioglioma semapv:ManualMappingCuration +NANDO:2200097 Gangliocytoma skos:closeMatch MONDO:0016730 gangliocytoma semapv:ManualMappingCuration +NANDO:2200098 Chordoma skos:closeMatch MONDO:0008978 chordoma semapv:ManualMappingCuration +NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:closeMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:closeMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:closeMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200102 Malignant neurinoma skos:closeMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:ManualMappingCuration +NANDO:2200103 Neurinoma skos:closeMatch MONDO:0002546 schwannoma semapv:ManualMappingCuration +NANDO:2200104 Teratoma of the central nervous system skos:closeMatch MONDO:0002718 central nervous system teratoma semapv:ManualMappingCuration +NANDO:2200105 Mature teratoma skos:closeMatch MONDO:0003517 mature teratoma semapv:ManualMappingCuration +NANDO:2200106 Immature teratoma skos:closeMatch MONDO:0024746 immature teratoma semapv:ManualMappingCuration +NANDO:2200107 Teratoma with malignant transformation skos:closeMatch MONDO:0006444 teratoma with malignant transformation semapv:ManualMappingCuration +NANDO:2200108 Intracranial germ cell tumour skos:closeMatch MONDO:0004218 childhood germ cell brain tumor semapv:ManualMappingCuration +NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:closeMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:ManualMappingCuration +NANDO:2200112 Minimal change nephrotic syndrome skos:closeMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:2200113 Focal segmental glomerulosclerosis skos:closeMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:2200114 Membranous nephropathy skos:closeMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:2200116 Denys-Drash syndrome skos:closeMatch MONDO:0008682 Denys-Drash syndrome semapv:ManualMappingCuration +NANDO:2200117 Pierson syndrome skos:closeMatch MONDO:0012184 Pierson syndrome semapv:ManualMappingCuration +NANDO:2200118 Central nervous system malformation syndrome skos:closeMatch MONDO:0020022 central nervous system malformation semapv:ManualMappingCuration +NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2200120 Galloway-Mowat syndrome skos:closeMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:2200121 IgA nephropathy skos:closeMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:2200122 Mesangial proliferative glomerulonephritis skos:closeMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:closeMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:closeMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200125 Goodpasture syndrome skos:closeMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:2200126 Alport syndrome skos:closeMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:2200127 Epstein syndrome skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200128 Lupus nephritis skos:closeMatch MONDO:0005556 lupus nephritis semapv:ManualMappingCuration +NANDO:2200131 Atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200132 Nail-patella syndrome skos:closeMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:closeMatch MONDO:0007671 fibronectin glomerulopathy semapv:ManualMappingCuration +NANDO:2200134 Lipoprotein glomerulopathy skos:closeMatch MONDO:0012725 lipoprotein glomerulopathy semapv:ManualMappingCuration +NANDO:2200136 Tubulointerstitial nephritis skos:closeMatch MONDO:0001085 interstitial nephritis semapv:ManualMappingCuration +NANDO:2200137 Chronic pyelonephritis skos:closeMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:closeMatch MONDO:0019065 amyloidosis semapv:ManualMappingCuration +NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:closeMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:closeMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:closeMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:closeMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2200144 Renal tubular acidosis skos:closeMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2200145 Gitelman syndrome skos:closeMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2200146 Bartter syndrome skos:closeMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2200152 Polycystic kidney disease skos:closeMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200153 Autosomal dominant polycystic kidney disease skos:closeMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200154 Autosomal recessive polycystic kidney disease skos:closeMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200155 Hypoplastic kidney skos:closeMatch MONDO:0019637 renal hypoplasia semapv:ManualMappingCuration +NANDO:2200156 Renal aplasia skos:closeMatch MONDO:0018470 renal agenesis semapv:ManualMappingCuration +NANDO:2200157 Potter syndrome skos:closeMatch MONDO:0001558 Potter sequence semapv:ManualMappingCuration +NANDO:2200158 Multicystic dysplastic kidney skos:closeMatch MONDO:0015988 multicystic dysplastic kidney semapv:ManualMappingCuration +NANDO:2200159 Oligomeganephronia skos:closeMatch MONDO:0016407 oligomeganephronia semapv:ManualMappingCuration +NANDO:2200161 Renal dysplasia skos:closeMatch MONDO:0019638 renal dysplasia semapv:ManualMappingCuration +NANDO:2200170 Medullary cystic kidney skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200171 Multilocular cysts of the kidney skos:closeMatch MONDO:0019983 multiloculated renal cyst semapv:ManualMappingCuration +NANDO:2200172 Simple renal cyst skos:closeMatch MONDO:0002473 cystic kidney disease semapv:ManualMappingCuration +NANDO:2200173 Medullary sponge kidney skos:closeMatch MONDO:0015268 medullary sponge kidney semapv:ManualMappingCuration +NANDO:2200176 Ureteropelvic junction obstruction skos:closeMatch MONDO:0007741 congenital hydronephrosis semapv:ManualMappingCuration +NANDO:2200177 Megacalycosis skos:closeMatch MONDO:0019639 congenital megacalycosis semapv:ManualMappingCuration +NANDO:2200178 Obstructive uropathy skos:closeMatch MONDO:0003330 urinary tract obstruction semapv:ManualMappingCuration +NANDO:2200179 Vesicoureteral reflux skos:closeMatch MONDO:0006007 vesicoureteral reflux semapv:ManualMappingCuration +NANDO:2200183 Ureteroceles skos:closeMatch MONDO:0008628 ureterocele semapv:ManualMappingCuration +NANDO:2200184 Megaureter skos:closeMatch MONDO:0018960 congenital primary megaureter semapv:ManualMappingCuration +NANDO:2200185 Prune belly syndrome skos:closeMatch MONDO:0007032 prune belly syndrome semapv:ManualMappingCuration +NANDO:2200187 Fanconi syndrome skos:closeMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2200188 Lowe syndrome skos:closeMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:closeMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:2200194 Tracheal stenosis skos:closeMatch MONDO:0002568 tracheal stenosis semapv:ManualMappingCuration +NANDO:2200195 Tracheomalacia skos:closeMatch MONDO:0019804 tracheomalacia semapv:ManualMappingCuration +NANDO:2200198 Congenital central hypoventilation syndrome skos:closeMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2200199 Idiopathic interstitial pneumonia skos:closeMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:2200200 Congenital alveolar proteinosis skos:closeMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:2200202 Pulmonary alveolar microlithiasis skos:closeMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:ManualMappingCuration +NANDO:2200203 Primary ciliary dyskinesia skos:closeMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200204 Kartagener syndrome skos:closeMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200205 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2200206 Bronchiectasis skos:closeMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:closeMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2200209 Bronchiolitis obliterans skos:closeMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2200210 Congenital diaphragmatic hernia skos:closeMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2200212 Sick sinus syndrome skos:closeMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2200213 Mobitz type II second degree atrioventricular block skos:closeMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:closeMatch MONDO:0000468 third-degree atrioventricular block semapv:ManualMappingCuration +NANDO:2200215 Bundle branch block skos:closeMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2200216 Polymorphic ventricular premature beat skos:closeMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:closeMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:closeMatch MONDO:0005479 atrial tachycardia semapv:ManualMappingCuration +NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:closeMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200225 Atrial flutter skos:closeMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200226 Atrial fibrillation skos:closeMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2200227 Ventricular fibrillation skos:closeMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:closeMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:closeMatch MONDO:0019171 familial long QT syndrome semapv:ManualMappingCuration +NANDO:2200229 Hypertrophic cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:closeMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2200231 Non-compaction of the ventricle skos:closeMatch MONDO:0018901 left ventricular noncompaction semapv:ManualMappingCuration +NANDO:2200232 Dilated cardiomyopathy skos:closeMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2200233 Restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:closeMatch MONDO:0006779 heart aneurysm semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:closeMatch MONDO:0015677 cardiac diverticulum semapv:ManualMappingCuration +NANDO:2200235 Endocardial fibroelastosis skos:closeMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2200236 Cardiac tumor skos:closeMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2200239 Constrictive pericarditis skos:closeMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:closeMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:ManualMappingCuration +NANDO:2200246 Stenosis or atresia of coronary artery skos:closeMatch MONDO:0006715 coronary stenosis semapv:ManualMappingCuration +NANDO:2200248 Myocardial infarction skos:closeMatch MONDO:0005068 myocardial infarction semapv:ManualMappingCuration +NANDO:2200249 Hypoplastic left heart syndrome skos:closeMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2200250 Single ventricle skos:closeMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:2200251 Tricuspid atresia skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:closeMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:closeMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:2200254 Tetralogy of Fallot skos:closeMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2200256 Double outlet right ventricle skos:closeMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2200257 Double-outlet left ventricle skos:closeMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2200258 Complete transposition of the great arteries skos:closeMatch MONDO:0000153 transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200259 Congenitally corrected transposition of the great arteries skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200260 Ebstein's anomaly skos:closeMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2200262 Aorto-pulmonary window skos:closeMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2200263 Cor triatriatum skos:closeMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2200264 Patent ductus arteriosus skos:closeMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:closeMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:closeMatch MONDO:0020439 patent foramen ovale semapv:ManualMappingCuration +NANDO:2200267 Atrial septal defect, sinus venosus type skos:closeMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:ManualMappingCuration +NANDO:2200268 Incomplete atrioventricular septal defect skos:closeMatch MONDO:0015275 partial atrioventricular canal semapv:ManualMappingCuration +NANDO:2200269 Complete atrioventricular septal defect skos:closeMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2200270 Ventricular septal defect skos:closeMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2200271 Total anomalous pulmonary venous connection skos:closeMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200272 Partial anomalous pulmonary venous connection skos:closeMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200273 Pulmonary venous obstruction skos:closeMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:2200274 Left ventricular-right atrial communication skos:closeMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2200275 Double-chambered right ventricle skos:closeMatch MONDO:0016581 conotruncal heart malformations semapv:ManualMappingCuration +NANDO:2200276 Subvalvular pulmonary stenosis skos:closeMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2200277 Subvalvular aortic stenosis skos:closeMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200278 Supravalvular pulmonary stenosis skos:closeMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:ManualMappingCuration +NANDO:2200280 Absent pulmonary valve skos:closeMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:closeMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:ManualMappingCuration +NANDO:2200282 Unilateral absence of a pulmonary artery skos:closeMatch MONDO:0020007 absence of the pulmonary artery semapv:ManualMappingCuration +NANDO:2200283 Coarctation of the aorta skos:closeMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:closeMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200285 Supravalvular aortic stenosis skos:closeMatch MONDO:0008504 supravalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200286 Williams syndrome skos:closeMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:2200288 Interruption of aortic arch complex skos:closeMatch MONDO:0009010 aortic arch interruption semapv:ManualMappingCuration +NANDO:2200290 Double aortic arch disease skos:closeMatch MONDO:0020413 encircling double aortic arch semapv:ManualMappingCuration +NANDO:2200293 Aneurysm of sinus valsalva skos:closeMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:ManualMappingCuration +NANDO:2200294 Aortic aneurysm skos:closeMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2200295 Pulmonary arteriovenous fistulae skos:closeMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:ManualMappingCuration +NANDO:2200296 Coronary artery fistula skos:closeMatch MONDO:0016081 coronary arterial fistulas semapv:ManualMappingCuration +NANDO:2200298 Pulmonary arterial hypertension skos:closeMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2200299 Chronic cor pulmonale skos:closeMatch MONDO:0001493 chronic pulmonary heart disease semapv:ManualMappingCuration +NANDO:2200300 Tricuspid valve stenosis skos:closeMatch MONDO:0005997 tricuspid valve stenosis semapv:ManualMappingCuration +NANDO:2200301 Tricuspid valve regurgitation skos:closeMatch MONDO:0002870 tricuspid valve insufficiency semapv:ManualMappingCuration +NANDO:2200302 Mitral valve stenosis skos:closeMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:2200303 Mitral regurgitation skos:closeMatch MONDO:0001298 congenital mitral valve insufficiency semapv:ManualMappingCuration +NANDO:2200304 Pulmonary valve stenosis skos:closeMatch MONDO:0006936 pulmonary valve stenosis semapv:ManualMappingCuration +NANDO:2200305 Pulmonary valve regurgitation skos:closeMatch MONDO:0001927 pulmonary valve insufficiency semapv:ManualMappingCuration +NANDO:2200306 Aortic valve stenosis skos:closeMatch MONDO:0042981 aortic valve stenosis semapv:ManualMappingCuration +NANDO:2200307 Aortic valve regurgitation skos:closeMatch MONDO:0005648 aortic valve insufficiency semapv:ManualMappingCuration +NANDO:2200308 Supramitral ring skos:closeMatch MONDO:0020400 congenital supravalvular mitral ring semapv:ManualMappingCuration +NANDO:2200312 Congenital hypopituitarism skos:closeMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200313 Acquired hypopituitarism skos:closeMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200314 Pituitary gigantism skos:closeMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2200315 Acromegaly skos:closeMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2200317 Congenital growth hormone deficiency skos:closeMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:ManualMappingCuration +NANDO:2200320 IGF1 insensitivity skos:closeMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:ManualMappingCuration +NANDO:2200321 Growth hormone insensitivity skos:closeMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200322 Hyperprolactinemia skos:closeMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:closeMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2200324 Central diabetes insipidus skos:closeMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:2200325 Adipsic hypernatremia skos:closeMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:ManualMappingCuration +NANDO:2200326 Nephrogenic diabetes insipidus skos:closeMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:2200328 Basedow disease skos:closeMatch MONDO:0005364 Graves disease semapv:ManualMappingCuration +NANDO:2200329 Hyperthyroidism skos:closeMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2200330 Ectoic thyroid skos:closeMatch MONDO:0019854 thyroid ectopia semapv:ManualMappingCuration +NANDO:2200331 Thyroid agenesis skos:closeMatch MONDO:0019855 athyreosis semapv:ManualMappingCuration +NANDO:2200332 Thyroid-stimulating hormone deficiency skos:closeMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200333 Congenital hypothyroidism skos:closeMatch MONDO:0018612 congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200335 Hashimoto disease skos:closeMatch MONDO:0007699 Hashimoto thyroiditis semapv:ManualMappingCuration +NANDO:2200336 Atrophic thyroiditis skos:closeMatch MONDO:0005624 atrophic thyroiditis semapv:ManualMappingCuration +NANDO:2200340 Central hypothyroidism skos:closeMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:closeMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:closeMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2200343 Hyperparathyroidism skos:closeMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:closeMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:closeMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:closeMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:closeMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:ManualMappingCuration +NANDO:2200348 Pseudopseudohypoparathyroidism skos:closeMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200349 Pseudohypoparathyroidism skos:closeMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200350 Cushing disease skos:closeMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:2200351 Ectopic ACTH syndrome skos:closeMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:ManualMappingCuration +NANDO:2200352 Adrenal adenoma skos:closeMatch MONDO:0003924 adrenal cortex adenoma semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:closeMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200358 Glucocorticoid resistance skos:closeMatch MONDO:0014421 glucocorticoid resistance semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:closeMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:closeMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200361 Aldosteronism skos:closeMatch MONDO:0001422 primary aldosteronism semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2200363 Liddle syndrome skos:closeMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2200365 Aldosterone synthase deficiency skos:closeMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200367 Pseudohypoaldosteronism skos:closeMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2200368 Pseudohypoaldosteronism type I skos:closeMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200369 Pseudohypoaldosteronism type II skos:closeMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:ManualMappingCuration +NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200372 11-β-Hydroxylase deficiency skos:closeMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200373 17 alpha-hydroxylase deficiency skos:closeMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200375 P450 oxidoreductase deficiency skos:closeMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:2200377 Gonadotropin-dependent precocious puberty skos:closeMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:closeMatch MONDO:0015791 peripheral precocious puberty semapv:ManualMappingCuration +NANDO:2200379 Hyperestrogenism skos:closeMatch MONDO:0001946 obsolete hyperestrogenism semapv:ManualMappingCuration +NANDO:2200380 Hyperandrogenism skos:closeMatch MONDO:0001324 obsolete hyperandrogenism semapv:ManualMappingCuration +NANDO:2200381 Kallmann syndrome skos:closeMatch MONDO:0018800 Kallmann syndrome semapv:ManualMappingCuration +NANDO:2200382 Hypogonadotropic hypogonadism skos:closeMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2200383 Testicular dysgenesis skos:closeMatch MONDO:0005437 testicular dysgenesis syndrome semapv:ManualMappingCuration +NANDO:2200386 Klinefelter syndrome skos:closeMatch MONDO:0006823 Klinefelter syndrome semapv:ManualMappingCuration +NANDO:2200387 Ovotesticular dsd skos:closeMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:closeMatch MONDO:0001969 mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:closeMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:ManualMappingCuration +NANDO:2200391 Androgen insensitivity syndrome skos:closeMatch MONDO:0019154 androgen insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:closeMatch MONDO:0020040 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:closeMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200394 Vipoma skos:closeMatch MONDO:0019960 VIPoma semapv:ManualMappingCuration +NANDO:2200395 Gastrinoma skos:closeMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:closeMatch MONDO:0005369 carcinoid tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:closeMatch MONDO:0006689 obsolete carcinoid syndrome semapv:ManualMappingCuration +NANDO:2200397 Glucagonoma skos:closeMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2200398 Insulinoma skos:closeMatch MONDO:0024677 pancreatic insulinoma semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:closeMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:closeMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2200401 Vitamin D-dependent rickets skos:closeMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2200402 Vitamin D-resistant osteomalacia skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200403 Primary hypophosphatemic rickets skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200404 Lipodystrophy skos:closeMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2200405 Multiple endocrine neoplasia type 1 skos:closeMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:closeMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:closeMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:ManualMappingCuration +NANDO:2200408 Von Hippel-Lindau disease skos:closeMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200409 Polycystic ovary syndrome skos:closeMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2200410 Turner syndrome skos:closeMatch MONDO:0019499 Turner syndrome semapv:ManualMappingCuration +NANDO:2200411 Prader-Willi syndrome skos:closeMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:2200412 McCune-Albright syndrome skos:closeMatch MONDO:0018919 McCune-Albright syndrome semapv:ManualMappingCuration +NANDO:2200413 Noonan syndrome skos:closeMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:2200414 Bardet-Biedl syndrome skos:closeMatch MONDO:0015229 Bardet-Biedl syndrome semapv:ManualMappingCuration +NANDO:2200415 Juvenile idiopathic arthritis skos:closeMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2200416 Systemic lupus erythematosus skos:closeMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:2200418 Juvenile dermatomyositis skos:closeMatch MONDO:0008054 juvenile dermatomyositis semapv:ManualMappingCuration +NANDO:2200419 Juvenile polymyositis skos:closeMatch MONDO:0019734 juvenile polymyositis semapv:ManualMappingCuration +NANDO:2200420 Sjogren's syndrome skos:closeMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:2200421 Anti-phospholipid antibody syndrome skos:closeMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:2200422 Behcet's disease skos:closeMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:closeMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:closeMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:2200424 Granulomatosis with polyangiitis skos:closeMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200426 Microscopic polyangiitis skos:closeMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:closeMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200428 Relapsing polychondritis skos:closeMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2200429 Systemic sclerosis skos:closeMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:2200430 Mixed connective tissue disease skos:closeMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:2200431 Familial Mediterranean fever skos:closeMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:2200432 Cryopyrin-associated periodic syndrome skos:closeMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:closeMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:closeMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:2200435 Nakajo-Nishimura syndrome skos:closeMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:closeMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:closeMatch MONDO:0017708 mevalonate kinase deficiency semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0004471 bacterial arthritis semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0018824 pyoderma gangrenosum semapv:ManualMappingCuration +NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:closeMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:closeMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:ManualMappingCuration +NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:closeMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200443 CARD14 deficiency skos:closeMatch MONDO:0011269 psoriasis 2 semapv:ManualMappingCuration +NANDO:2200444 Cherubism skos:closeMatch MONDO:0007315 cherubism semapv:ManualMappingCuration +NANDO:2200446 IL10 deficiency skos:closeMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:ManualMappingCuration +NANDO:2200447 IL-10RA deficiency skos:closeMatch MONDO:0013153 inflammatory bowel disease 28 semapv:ManualMappingCuration +NANDO:2200448 IL-10RB deficiency skos:closeMatch MONDO:0012941 inflammatory bowel disease 25 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200451 PLCg2 deficiency skos:closeMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200452 IL36RN deficiency skos:closeMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:2200453 Majeed syndrome skos:closeMatch MONDO:0012316 Majeed syndrome semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:closeMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:ManualMappingCuration +NANDO:2200456 RBCK1 deficiency skos:closeMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:ManualMappingCuration +NANDO:2200457 SLC29A3 deficiency skos:closeMatch MONDO:0011273 H syndrome semapv:ManualMappingCuration +NANDO:2200458 A20 haploinsufficiency skos:closeMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:2200460 Diabetes mellitus type 1 skos:closeMatch MONDO:0005147 type 1 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:closeMatch MONDO:0005148 type 2 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:closeMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2200462 Maturity-onset diabetes of the young skos:closeMatch MONDO:0018911 maturity-onset diabetes of the young semapv:ManualMappingCuration +NANDO:2200463 Neonatal diabetes mellitus skos:closeMatch MONDO:0016391 neonatal diabetes mellitus semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:closeMatch MONDO:0005827 lipoatrophic diabetes semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:closeMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:2200467 Phenylketonuria skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2200468 Tyrosinemia type 1 skos:closeMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:2200469 Tyrosinemia type 2 skos:closeMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:2200470 Tyrosinemia type 3 skos:closeMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:2200471 Hyperprolinemia skos:closeMatch MONDO:0023419 hyperprolinemia semapv:ManualMappingCuration +NANDO:2200472 Prolidase deficiency skos:closeMatch MONDO:0008221 prolidase deficiency semapv:ManualMappingCuration +NANDO:2200473 Maple syrup urine disease skos:closeMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:2200474 Homocystinuria skos:closeMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:2200475 Hypermethioninemia skos:closeMatch MONDO:0000351 disorder of methionine catabolism semapv:ManualMappingCuration +NANDO:2200476 Nonketotic hyperglycinemia skos:closeMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:2200477 N-acetylglutamate synthetase deficiency skos:closeMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:closeMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:2200479 Ornithine transcarbamylase deficiency skos:closeMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200480 Argininosuccinate synthetase deficiency skos:closeMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:2200481 Argininosuccinic aciduria skos:closeMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:2200482 Hyperargininemia skos:closeMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:2200483 Citrin deficiency skos:closeMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:2200484 Hyperornithinemia skos:closeMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:closeMatch MONDO:0009393 ornithine translocase deficiency semapv:ManualMappingCuration +NANDO:2200486 Gyrate atrophy of choroid and retina skos:closeMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200487 Hartnup disease skos:closeMatch MONDO:0009324 Hartnup disease semapv:ManualMappingCuration +NANDO:2200488 Lysinuric protein intolerance skos:closeMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:2200489 Cystinuria skos:closeMatch MONDO:0009067 cystinuria semapv:ManualMappingCuration +NANDO:2200491 Methylmalonic acidemia skos:closeMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:2200492 Propionic acidemia skos:closeMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:2200493 Beta-ketothiolase deficiency skos:closeMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:2200494 Isovaleric acidemia skos:closeMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200496 Methylglutaconic aciduria skos:closeMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:closeMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:ManualMappingCuration +NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:ManualMappingCuration +NANDO:2200500 Multiple carboxylase deficiency skos:closeMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200501 Glutaric acidemia type 1 skos:closeMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200502 Glutaric acidemia type 2 skos:closeMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200503 Primary hyperoxaluria skos:closeMatch MONDO:0002474 primary hyperoxaluria semapv:ManualMappingCuration +NANDO:2200504 Alkaptonuria skos:closeMatch MONDO:0008753 alkaptonuria semapv:ManualMappingCuration +NANDO:2200505 Glycerol kinase deficiency skos:closeMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:ManualMappingCuration +NANDO:2200506 Inborn errors of bile acid metabolism skos:closeMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:ManualMappingCuration +NANDO:2200508 Organic cation transporter 2 deficiency skos:closeMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:closeMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:closeMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200515 Trifunctional protein deficiency skos:closeMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:closeMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200519 Pyruvate carboxylase deficiency skos:closeMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:ManualMappingCuration +NANDO:2200520 Fumarase deficiency skos:closeMatch MONDO:0011730 fumaric aciduria semapv:ManualMappingCuration +NANDO:2200522 Mitochondrial respiratory chain disorders skos:closeMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:ManualMappingCuration +NANDO:2200523 Mitochondrial DNA depletion syndrome skos:closeMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:closeMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:ManualMappingCuration +NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:closeMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:closeMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:2200527 Leigh syndrome skos:closeMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:closeMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200529 Kearns-Sayre syndrome skos:closeMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:2200531 Hereditary fructose intolerance skos:closeMatch MONDO:0009249 hereditary fructose intolerance semapv:ManualMappingCuration +NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:closeMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:2200533 Galactokinase deficiency skos:closeMatch MONDO:0009255 galactokinase deficiency semapv:ManualMappingCuration +NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:closeMatch MONDO:0009257 galactose epimerase deficiency semapv:ManualMappingCuration +NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:closeMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:ManualMappingCuration +NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:closeMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:ManualMappingCuration +NANDO:2200537 Glycogen synthase deficiency skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2200538 Glycogen storage disease type I skos:closeMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:2200539 Glycogen storage disease type III skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:2200540 Glycogen storage disease type IV skos:closeMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:2200541 Glycogen storage disease type V skos:closeMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:2200542 Glycogen storage disease type VI skos:closeMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:2200543 Glycogen storage disease type VII skos:closeMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:2200544 Glycogen storage disease type IX skos:closeMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:2200545 Glucose transporter 1 deficiency skos:closeMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:2200547 Mucopolysaccharidosis type I skos:closeMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2200548 Mucopolysaccharidosis type II skos:closeMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:2200549 Mucopolysaccharidosis type III skos:closeMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:2200550 Mucopolysaccharidosis type IV skos:closeMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:2200551 Mucopolysaccharidosis type VI skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:2200552 Mucopolysaccharidosis type VII skos:closeMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:2200553 Fucosidosis skos:closeMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:2200555 Aspartylglucosaminuria skos:closeMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:2200556 Sialidosis skos:closeMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:2200557 Galactosialidosis skos:closeMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:2200558 GM1 Gangliosidosis skos:closeMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:2200559 GM2 gangliosidosis skos:closeMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:2200560 Metachromatic leukodystrophy skos:closeMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:2200561 Niemann-Pick disease skos:closeMatch MONDO:0001982 Niemann-Pick disease semapv:ManualMappingCuration +NANDO:2200562 Gaucher disease skos:closeMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:2200563 Fabry disease skos:closeMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:2200564 Krabbe disease skos:closeMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:2200565 Farber disease skos:closeMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:2200566 Multiple sulfatase deficiency skos:closeMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:2200567 Mucolipidosis II skos:closeMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:2200568 Mucolipidosis III skos:closeMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:2200569 Pompe disease skos:closeMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:2200570 Acid lipase deficiency skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2200571 Cystinosis skos:closeMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:2200572 Free Sialic Acid Storage Disease skos:closeMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:2200573 Neuronal ceroid lipofuscinoses skos:closeMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2200575 Peroxisome biogenesis disorders skos:closeMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:2200576 Adrenoleukodystrophy skos:closeMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:2200577 Refsum disease skos:closeMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:2200579 Wilson disease skos:closeMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:2200580 Menkes disease skos:closeMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:2200581 Occipital horn syndrome skos:closeMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:2200582 Aceruloplasminemia skos:closeMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:2200583 Sulfite oxidase deficiency skos:closeMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:ManualMappingCuration +NANDO:2200584 Acrodermatitis enteropathica skos:closeMatch MONDO:0008713 acrodermatitis enteropathica semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:closeMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:closeMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:closeMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200588 Xanthinuria skos:closeMatch MONDO:0000721 xanthinuria semapv:ManualMappingCuration +NANDO:2200590 Orotic aciduria skos:closeMatch MONDO:0009797 orotic aciduria semapv:ManualMappingCuration +NANDO:2200592 Hereditary folate malabsorption skos:closeMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:2200594 Tetrahydrobiopterin deficiency skos:closeMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2200595 Tyrosine hydroxylase deficiency skos:closeMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:closeMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:2200597 Dopamine beta hydroxylase deficiency skos:closeMatch MONDO:0009123 orthostatic hypotension 1 semapv:ManualMappingCuration +NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:closeMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:ManualMappingCuration +NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:closeMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:closeMatch MONDO:0005439 familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:closeMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:closeMatch MONDO:0016525 familial hyperaldosteronism semapv:ManualMappingCuration +NANDO:2200604 Abetalipoproteinemia skos:closeMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:closeMatch MONDO:0017773 hypoalphalipoproteinemia semapv:ManualMappingCuration +NANDO:2200607 Ehlers-Danlos syndrome skos:closeMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2200608 Lipoid proteinosis skos:closeMatch MONDO:0009530 lipoid proteinosis semapv:ManualMappingCuration +NANDO:2200611 Alpha-1-antitrypsin deficiency skos:closeMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2200612 Megaloblastic anemia skos:closeMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2200614 Congenital red cell aplasia skos:closeMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:2200615 Congenital dyserythropoietic anemia skos:closeMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2200616 Sideroblastic anemia skos:closeMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2200617 Congenital atransferrinemia skos:closeMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2200618 Cold agglutinin disease skos:closeMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:2200619 Paroxysmal cold hemoglobinuria skos:closeMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2200622 Hereditary spherocytosis skos:closeMatch MONDO:0019350 hereditary spherocytosis semapv:ManualMappingCuration +NANDO:2200623 Hereditary stomatocytosis skos:closeMatch MONDO:0020102 hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200624 Sickle cell disease skos:closeMatch MONDO:0011382 sickle cell anemia semapv:ManualMappingCuration +NANDO:2200625 Unstable hemoglobin disease skos:closeMatch MONDO:0020459 unstable hemoglobin disease semapv:ManualMappingCuration +NANDO:2200626 Thalassemia skos:closeMatch MONDO:0000984 thalassemia semapv:ManualMappingCuration +NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:closeMatch MONDO:0005775 G6PD deficiency semapv:ManualMappingCuration +NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:closeMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:ManualMappingCuration +NANDO:2200630 Hereditary elliptocytosis skos:closeMatch MONDO:0017319 hereditary elliptocytosis semapv:ManualMappingCuration +NANDO:2200631 Hereditary pyropoikilocytosis skos:closeMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:ManualMappingCuration +NANDO:2200633 Stomatocytic xerocytosis skos:closeMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:closeMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:ManualMappingCuration +NANDO:2200635 Hemoglobin C disease skos:closeMatch MONDO:0016242 hemoglobin C disease semapv:ManualMappingCuration +NANDO:2200636 Hemolytic anemia skos:closeMatch MONDO:0003664 hemolytic anemia semapv:ManualMappingCuration +NANDO:2200637 Hypersplenism skos:closeMatch MONDO:0006795 hypersplenism semapv:ManualMappingCuration +NANDO:2200639 Disseminated intravascular coagulation skos:closeMatch MONDO:0001243 disseminated intravascular coagulation semapv:ManualMappingCuration +NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:closeMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:ManualMappingCuration +NANDO:2200641 Atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200643 Polycythemia vera skos:closeMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2200644 Familial polycythemia skos:closeMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2200645 Immune thrombocytopenic purpura skos:closeMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:closeMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:ManualMappingCuration +NANDO:2200648 Heparin-induced thrombocytopenia skos:closeMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:ManualMappingCuration +NANDO:2200649 Thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:closeMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:ManualMappingCuration +NANDO:2200652 Fanconi anemia skos:closeMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:2200653 Cyclic thrombocytopenia skos:closeMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2200654 May-Hegglin anomaly skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200655 Essential thrombocythemia skos:closeMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2200656 Bernard-Soulier syndrome skos:closeMatch MONDO:0009276 Bernard-Soulier syndrome semapv:ManualMappingCuration +NANDO:2200657 Thrombasthenia skos:closeMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:closeMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:ManualMappingCuration +NANDO:2200661 Thrombocytopenia with absent radii skos:closeMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:ManualMappingCuration +NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:closeMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:ManualMappingCuration +NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:closeMatch MONDO:0008555 thrombocytopenia 2 semapv:ManualMappingCuration +NANDO:2200664 ITGA2B/ITGB3 mutations skos:closeMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200665 ACTN1 mutations skos:closeMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:ManualMappingCuration +NANDO:2200667 β-1 tubulin disorders skos:closeMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:ManualMappingCuration +NANDO:2200668 Platelet-type von Willebrand disease skos:closeMatch MONDO:0008332 platelet-type von Willebrand disease semapv:ManualMappingCuration +NANDO:2200669 ADP receptor deficiencies skos:closeMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:ManualMappingCuration +NANDO:2200670 Abnormalities in platelet collagen receptors skos:closeMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:ManualMappingCuration +NANDO:2200671 Scott syndrome skos:closeMatch MONDO:0009885 Scott syndrome semapv:ManualMappingCuration +NANDO:2200674 Factor V deficiency skos:closeMatch MONDO:0020586 factor V deficiency semapv:ManualMappingCuration +NANDO:2200675 Factor VII deficiency skos:closeMatch MONDO:0002244 factor VII deficiency semapv:ManualMappingCuration +NANDO:2200676 Hemophilia A skos:closeMatch MONDO:0010602 hemophilia A semapv:ManualMappingCuration +NANDO:2200677 Hemophilia B skos:closeMatch MONDO:0010604 hemophilia B semapv:ManualMappingCuration +NANDO:2200678 Factor X deficiency skos:closeMatch MONDO:0002247 factor X deficiency semapv:ManualMappingCuration +NANDO:2200679 Factor XI deficiency skos:closeMatch MONDO:0020587 factor XI deficiency semapv:ManualMappingCuration +NANDO:2200680 Factor XII deficiency skos:closeMatch MONDO:0009315 congenital factor XII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:closeMatch MONDO:0002241 factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:closeMatch MONDO:0018029 congenital factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200682 Von Willebrand disease skos:closeMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:closeMatch MONDO:0012901 inherited prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:closeMatch MONDO:0044744 prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200685 High molecular weight kininogen deficiency skos:closeMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:ManualMappingCuration +NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:closeMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:ManualMappingCuration +NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:closeMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:closeMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:ManualMappingCuration +NANDO:2200689 Protein C deficiency skos:closeMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2200690 Protein S deficiency skos:closeMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2200692 Myelofibrosis skos:closeMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2200693 Aplastic anemia skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2200694 X-linked severe combined immunodeficiency skos:closeMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:2200695 Reticular dysgenesis skos:closeMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:2200696 Adenosine deaminase deficiency skos:closeMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:2200697 Omenn syndrome skos:closeMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:closeMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:2200699 CD8 deficiency skos:closeMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:2200701 MHC class I deficiency skos:closeMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:2200702 MHC class II deficiency skos:closeMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:2200704 Wiskott-Aldrich syndrome skos:closeMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:2200705 Ataxia telangiectasia skos:closeMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:2200706 Nijmegen breakage syndrome skos:closeMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:2200707 Bloom syndrome skos:closeMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:2200708 ICF syndrome skos:closeMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:2200710 RIDDLE syndrome skos:closeMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:2200711 Schimke syndrome skos:closeMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:closeMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:closeMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:closeMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:2200713 Hyper-IgE syndrome skos:closeMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:closeMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:2200715 Dyskeratosis congenita skos:closeMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:2200716 X-linked agammaglobulinemia skos:closeMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:2200717 Common variable immunodeficiency skos:closeMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:2200718 Hyper-IgM syndrome skos:closeMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:2200719 Isolated IgG subclass deficiency skos:closeMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:ManualMappingCuration +NANDO:2200720 Selective IgA deficiency skos:closeMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:closeMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:closeMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:2200724 Chédiak-Higashi syndrome skos:closeMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:2200725 X-linked lymphoproliferative syndrome skos:closeMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:closeMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200728 Perforin deficiency skos:closeMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:ManualMappingCuration +NANDO:2200729 UNC13D/Munc13-4 deficiency skos:closeMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:ManualMappingCuration +NANDO:2200730 Syntaxin 11 deficiency skos:closeMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:ManualMappingCuration +NANDO:2200731 STXBP2/Munc18-2 deficiency skos:closeMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:ManualMappingCuration +NANDO:2200732 Griscelli syndrome type 2 skos:closeMatch MONDO:0011872 Griscelli syndrome type 2 semapv:ManualMappingCuration +NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:closeMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:ManualMappingCuration +NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:closeMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:ManualMappingCuration +NANDO:2200735 CD27 deficiency skos:closeMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:ManualMappingCuration +NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:closeMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:ManualMappingCuration +NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:closeMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:closeMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:ManualMappingCuration +NANDO:2200740 Caspase-8 deficiency skos:closeMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:ManualMappingCuration +NANDO:2200741 Fas-associated death domain protein deficiency skos:closeMatch MONDO:0013408 FADD-related immunodeficiency semapv:ManualMappingCuration +NANDO:2200743 PKC-δ deficiency skos:closeMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:ManualMappingCuration +NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:closeMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:ManualMappingCuration +NANDO:2200745 Severe congenital neutropenia skos:closeMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200746 Cyclic neutropenia skos:closeMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:closeMatch MONDO:0011405 poikiloderma with neutropenia semapv:ManualMappingCuration +NANDO:2200750 Cohen syndrome skos:closeMatch MONDO:0008999 Cohen syndrome semapv:ManualMappingCuration +NANDO:2200751 Barth syndrome skos:closeMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:2200752 P14 deficiency skos:closeMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:ManualMappingCuration +NANDO:2200753 X linked severe congenital neutropenia skos:closeMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200754 Glycogen storage disease type 1b skos:closeMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2200755 Leukocyte adhesion deficiency skos:closeMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:2200756 Shwachman-Diamond syndrome skos:closeMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:2200757 Chronic granulomatous disease skos:closeMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:2200758 Myeloperoxidase deficiency skos:closeMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:closeMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:closeMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:2200762 IRAK4 deficiency skos:closeMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:2200763 MyD88 deficiency skos:closeMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:2200764 Chronic mucocutaneous candidiasis skos:closeMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:2200766 HOIL-1 deficiency skos:closeMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualMappingCuration +NANDO:2200767 WHIM syndrome skos:closeMatch MONDO:0008674 obsolete WHIM syndrome semapv:ManualMappingCuration +NANDO:2200768 Epidermodysplasia verruciformis skos:closeMatch MONDO:0009176 epidermodysplasia verruciformis semapv:ManualMappingCuration +NANDO:2200770 STAT2 deficiency skos:closeMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:ManualMappingCuration +NANDO:2200771 MCM4 mutation skos:closeMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200772 Herpes simplex encephalitis skos:closeMatch MONDO:0012521 herpes simplex encephalitis semapv:ManualMappingCuration +NANDO:2200774 Trypanosomiasis skos:closeMatch MONDO:0000940 trypanosomiasis semapv:ManualMappingCuration +NANDO:2200775 Isolated congenital asplenia skos:closeMatch MONDO:0010066 familial isolated congenital asplenia semapv:ManualMappingCuration +NANDO:2200776 Inherited deficiency of complement system skos:closeMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:2200777 C1q deficiency skos:closeMatch MONDO:0013343 C1Q deficiency semapv:ManualMappingCuration +NANDO:2200779 C1s deficiency skos:closeMatch MONDO:0013419 complement component C1s deficiency semapv:ManualMappingCuration +NANDO:2200781 C2 deficiency skos:closeMatch MONDO:0009006 complement component 2 deficiency semapv:ManualMappingCuration +NANDO:2200782 C3 deficiency skos:closeMatch MONDO:0013417 complement component 3 deficiency semapv:ManualMappingCuration +NANDO:2200783 C5 deficiency skos:closeMatch MONDO:0012295 complement component 5 deficiency semapv:ManualMappingCuration +NANDO:2200784 C6 deficiency skos:closeMatch MONDO:0012908 complement component 6 deficiency semapv:ManualMappingCuration +NANDO:2200785 C7 deficiency skos:closeMatch MONDO:0012412 complement component 7 deficiency semapv:ManualMappingCuration +NANDO:2200787 C9 deficiency skos:closeMatch MONDO:0013445 complement component 9 deficiency semapv:ManualMappingCuration +NANDO:2200789 Properdin deficiency skos:closeMatch MONDO:0010713 properdin deficiency, X-linked semapv:ManualMappingCuration +NANDO:2200791 Factor H deficiency skos:closeMatch MONDO:0012350 complement factor H deficiency semapv:ManualMappingCuration +NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:closeMatch MONDO:0017398 3MC syndrome semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:closeMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:closeMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:2200797 Factor B deficiency skos:closeMatch MONDO:0014255 complement factor b deficiency semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:closeMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:ManualMappingCuration +NANDO:2200803 CD46 deficiency skos:closeMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:ManualMappingCuration +NANDO:2200804 Primary CD59 deficiency skos:closeMatch MONDO:0012858 primary CD59 deficiency semapv:ManualMappingCuration +NANDO:2200805 Hyper eosinophilic syndrome skos:closeMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200806 Hypereosinophilic syndrome skos:closeMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200807 Eosinophilic gastrointestinal disorders skos:closeMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:2200808 Chronic active EB virus infection skos:closeMatch MONDO:0009194 immunodeficiency 32B semapv:ManualMappingCuration +NANDO:2200809 Acquired immune deficiency syndrome skos:closeMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2200810 HIV infection skos:closeMatch MONDO:0005109 HIV infectious disease semapv:ManualMappingCuration +NANDO:2200812 Chronic graft-versus-host disease skos:closeMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2200813 Meningoencephalocele skos:closeMatch MONDO:0017079 meningoencephalocele semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:closeMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:closeMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2200815 Spinal lipoma skos:closeMatch MONDO:0001790 spinal cord lipoma semapv:ManualMappingCuration +NANDO:2200816 Sacrococcygeal teratoma skos:closeMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2200817 Lissencephaly skos:closeMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:2200818 Schizencephaly skos:closeMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:2200819 Holoprosencephaly skos:closeMatch MONDO:0016296 holoprosencephaly semapv:ManualMappingCuration +NANDO:2200820 Septo-optic dysplasia skos:closeMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:2200821 Dandy-Walker syndrome skos:closeMatch MONDO:0009072 Dandy-Walker syndrome semapv:ManualMappingCuration +NANDO:2200822 Congenital hydrocephalus skos:closeMatch MONDO:0016349 congenital hydrocephalus semapv:ManualMappingCuration +NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:closeMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualMappingCuration +NANDO:2200824 Joubert syndrome related disorders skos:closeMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2200825 Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:closeMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:closeMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:2200827 Neurocutaneous melanosis skos:closeMatch MONDO:0009578 neurocutaneous melanocytosis semapv:ManualMappingCuration +NANDO:2200828 Gorlin syndrome skos:closeMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:ManualMappingCuration +NANDO:2200829 von Hippel-Lindau disease skos:closeMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200830 Sturge-Weber syndrome skos:closeMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:2200831 Werner syndrome skos:closeMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:2200832 Cockayne syndrome skos:closeMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:2200833 Hutchinson-Gilford syndrome skos:closeMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:2200834 Canavan disease skos:closeMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:2200835 Alexander disease skos:closeMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:closeMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:closeMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:2200838 Vanishing white matter disease skos:closeMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:2200839 ATR-X syndrome skos:closeMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2200840 Fragile X syndrome skos:closeMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2200842 Cerebral creatine deficiency syndrome skos:closeMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2200843 Non-syndromic craniosynostosis skos:closeMatch MONDO:0015337 isolated craniosynostosis semapv:ManualMappingCuration +NANDO:2200844 Apert syndrome skos:closeMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:2200845 Crouzon disease skos:closeMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:2200847 Carpenter syndrome skos:closeMatch MONDO:0019012 Carpenter syndrome semapv:ManualMappingCuration +NANDO:2200848 Saethre-Chotzen syndrome skos:closeMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:ManualMappingCuration +NANDO:2200850 Moyamoya disease skos:closeMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2200851 Cerebral arteriovenous malformation skos:closeMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:closeMatch MONDO:0002327 intracranial cavernous angioma semapv:ManualMappingCuration +NANDO:2200853 Spinal muscular atrophy skos:closeMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:closeMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:closeMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:closeMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:2200856 Duchenne muscular dystrophy skos:closeMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:closeMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:2200858 Limb-girdle muscular dystrophy skos:closeMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:closeMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:closeMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:closeMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:ManualMappingCuration +NANDO:2200862 Ullrich congenital muscular dystrophy skos:closeMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:2200864 Myotonic dystrophy skos:closeMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:2200865 Becker muscular dystrophy skos:closeMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:2200866 LMNA-related congenital muscular dystrophy skos:closeMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:closeMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:closeMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:2200868 Congenital fiber-type disproportion myopathy skos:closeMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:2200869 Nemaline myopathy skos:closeMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:2200870 Central core disease skos:closeMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:2200871 Multicore disease skos:closeMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:2200875 Reducing body myopathy skos:closeMatch MONDO:0019948 reducing body myopathy semapv:ManualMappingCuration +NANDO:2200876 Schwartz-Jampel syndrome skos:closeMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2200877 Severe myoclonic epilepsy in infancy skos:closeMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:2200878 West syndrome skos:closeMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:2200879 Lennox-Gastaut syndrome skos:closeMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:2200880 Unverricht-Lundborg disease skos:closeMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:2200881 Lafora disease skos:closeMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:2200882 Spinocerebellar degeneration skos:closeMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2200883 Alternating hemiplegia of childhood skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200884 Dystonia musculorum deformans skos:closeMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2200885 Segawa syndrome skos:closeMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:closeMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:2200887 Infantile neuroaxonal dystrophy skos:closeMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:ManualMappingCuration +NANDO:2200888 Infantile bilateral striatal necrosis skos:closeMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2200889 Congenital herpes simplex virus infection skos:closeMatch MONDO:0017381 congenital herpes simplex virus infection semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:closeMatch MONDO:0005713 obsolete MONDO:0005713 semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:closeMatch MONDO:0017361 congenital rubella syndrome semapv:ManualMappingCuration +NANDO:2200891 Congenital cytomegalovirus infection skos:closeMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:ManualMappingCuration +NANDO:2200892 Congenital toxoplasmosis skos:closeMatch MONDO:0005715 congenital toxoplasmosis semapv:ManualMappingCuration +NANDO:2200893 Aicardi-Goutières Syndrome skos:closeMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:closeMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:ManualMappingCuration +NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:closeMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:ManualMappingCuration +NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:closeMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:ManualMappingCuration +NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:closeMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:ManualMappingCuration +NANDO:2200899 Subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2200900 Rasmussen's encephalitis skos:closeMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2200902 Autoimmune encephalitis skos:closeMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:closeMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2200904 Multiple sclerosis skos:closeMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2200906 Myasthenia gravis skos:closeMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2200907 Lactose intolerance skos:closeMatch MONDO:0009116 obsolete lactose intolerance semapv:ManualMappingCuration +NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:closeMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:ManualMappingCuration +NANDO:2200909 Glucose-galactose malabsorption skos:closeMatch MONDO:0011731 glucose-galactose malabsorption semapv:ManualMappingCuration +NANDO:2200910 Enterokinase deficiency skos:closeMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:ManualMappingCuration +NANDO:2200911 Amylase deficiency skos:closeMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:ManualMappingCuration +NANDO:2200912 Lipase deficiency skos:closeMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:ManualMappingCuration +NANDO:2200913 Microvillus inclusion disease skos:closeMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2200914 Intestinal lymphangiectasia skos:closeMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2200915 Familial adenomatous polyposis skos:closeMatch MONDO:0021055 classic familial adenomatous polyposis semapv:ManualMappingCuration +NANDO:2200916 Juvenile polyposis skos:closeMatch MONDO:0017380 juvenile polyposis syndrome semapv:ManualMappingCuration +NANDO:2200917 Peutz-Jeghers syndrome skos:closeMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:ManualMappingCuration +NANDO:2200918 Cowden syndrome skos:closeMatch MONDO:0016063 Cowden disease semapv:ManualMappingCuration +NANDO:2200919 Cyclic vomiting syndrome skos:closeMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2200920 Ulcerative colitis skos:closeMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:2200921 Crohn's disease skos:closeMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:2200923 Autoimmune enteropathy skos:closeMatch MONDO:0019787 autoimmune enteropathy semapv:ManualMappingCuration +NANDO:2200924 IPEX syndrome skos:closeMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualMappingCuration +NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:closeMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:closeMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:closeMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:2200931 Alagille syndrome skos:closeMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:2200933 Progressive familial intrahepatic cholestasis skos:closeMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:closeMatch MONDO:0010913 Caroli disease semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:closeMatch MONDO:0018808 Caroli syndrome semapv:ManualMappingCuration +NANDO:2200936 Congenital hepatic fibrosis skos:closeMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2200937 Liver cirrhosis skos:closeMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2200941 Crigler-Najjar syndrome skos:closeMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2200942 Hereditary pancreatitis skos:closeMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:2200943 Autoimmune pancreatitis skos:closeMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:2200944 Short bowel syndrome skos:closeMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2200945 Hirschsprung disease skos:closeMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:closeMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:closeMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200950 Persistent cloaca skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200951 Cloacal exstrophy skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200952 Coffin-Lowry syndrome skos:closeMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:2200953 Sotos syndrome skos:closeMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:2200954 Smith-Magenis syndrome skos:closeMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:2200955 Rubinstein-Taybi syndrome skos:closeMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:2200956 Kabuki syndrome skos:closeMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:2200957 Weaver syndrome skos:closeMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:2200958 Cornelia de Lange syndrome skos:closeMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:2200959 Beckwith-Wiedemann syndrome skos:closeMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:ManualMappingCuration +NANDO:2200960 Angelman syndrome skos:closeMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:2200961 5p- syndrome skos:closeMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:2200962 4p- Syndrome skos:closeMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:2200963 Trisomy 18 skos:closeMatch MONDO:0018071 trisomy 18 semapv:ManualMappingCuration +NANDO:2200964 Trisomy 13 skos:closeMatch MONDO:0018068 trisomy 13 semapv:ManualMappingCuration +NANDO:2200965 Down syndrome skos:closeMatch MONDO:0008608 Down syndrome semapv:ManualMappingCuration +NANDO:2200967 CFC Syndrome skos:closeMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:2200968 Marfan syndrome skos:closeMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:2200969 Loeys-Dietz syndrome skos:closeMatch MONDO:0018954 Loeys-Dietz syndrome semapv:ManualMappingCuration +NANDO:2200970 Camurati-Engelmann disease skos:closeMatch MONDO:0007542 Camurati-Engelmann disease semapv:ManualMappingCuration +NANDO:2200971 Costello syndrome skos:closeMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:2200972 CHARGE syndrome skos:closeMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:2200973 Hallermann-Streiff syndrome skos:closeMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:ManualMappingCuration +NANDO:2200974 Incontinentia pigmenti skos:closeMatch MONDO:0010631 incontinentia pigmenti semapv:ManualMappingCuration +NANDO:2200975 Antley-Bixler syndrome skos:closeMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:closeMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:closeMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:2200977 Coffin-Siris syndrome skos:closeMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:closeMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:ManualMappingCuration +NANDO:2200979 Smith-Lemli-Opitz syndrome skos:closeMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:2200980 Moebius syndrome skos:closeMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:2200981 Mowat-Wilson syndrome skos:closeMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:2200982 Young-Simpson syndrome skos:closeMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:2200983 VATER syndrome skos:closeMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:2200984 MECP2 duplication syndrome skos:closeMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:ManualMappingCuration +NANDO:2200985 Takenouchi-Kosaki syndrome skos:closeMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:ManualMappingCuration +NANDO:2200986 Oculocutaneous albinism skos:closeMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:2200987 Keratinopathic ichthyosis skos:closeMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:closeMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:closeMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200990 Superficial epidermolytic ichthyosis skos:closeMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200991 Autosomal recessive congenital ichthyosis skos:closeMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:2200992 Harlequin ichthyosis skos:closeMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:2200993 Netherton syndrome skos:closeMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:2200994 Sjögren-Larsson syndrome skos:closeMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:closeMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:2200998 CHILD syndrome skos:closeMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:closeMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:ManualMappingCuration +NANDO:2201000 Epidermolysis bullosa skos:closeMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201001 Pustular psoriasis skos:closeMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2201002 Xeroderma pigmentosum skos:closeMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:closeMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:closeMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2201005 Anhidrotic ectodermal dysplasia skos:closeMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:ManualMappingCuration +NANDO:2201006 Stevens-Johnson syndrome skos:closeMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2201007 Toxic epidermal necrolysis skos:closeMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:2201008 Thoracic insufficiency syndrome skos:closeMatch MONDO:0015929 thoracic malformation semapv:ManualMappingCuration +NANDO:2201009 Achondroplasia skos:closeMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:2201010 Hypochondroplasia skos:closeMatch MONDO:0007793 hypochondroplasia semapv:ManualMappingCuration +NANDO:2201011 Osteogenesis imperfecta skos:closeMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:2201012 Hypophosphatasia skos:closeMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:2201013 Osteopetrosis skos:closeMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:2201014 Multiple cartilaginous exostosis skos:closeMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:closeMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:closeMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:closeMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:closeMatch MONDO:0016068 fibrochondrogenesis semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:closeMatch MONDO:0022800 type 2 collagenopathy semapv:ManualMappingCuration +NANDO:2201017 Chondrodysplasia punctata skos:closeMatch MONDO:0019701 chondrodysplasia punctata semapv:ManualMappingCuration +NANDO:2201018 Pseudoachondroplasia skos:closeMatch MONDO:0008322 pseudoachondroplasia semapv:ManualMappingCuration +NANDO:2201019 Larsen syndrome skos:closeMatch MONDO:0007875 Larsen syndrome semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:closeMatch MONDO:0018240 TRPV4-related bone disorder semapv:ManualMappingCuration +NANDO:2201022 Osteosclerotic diseases skos:closeMatch MONDO:0002933 osteosclerosis semapv:ManualMappingCuration +NANDO:2201023 Pycnodysostosis skos:closeMatch MONDO:0009940 pycnodysostosis semapv:ManualMappingCuration +NANDO:2201024 Osteopoikilosis skos:closeMatch MONDO:0001414 osteopoikilosis semapv:ManualMappingCuration +NANDO:2201026 Beals syndrome skos:closeMatch MONDO:0007363 congenital contractural arachnodactyly semapv:ManualMappingCuration +NANDO:2201027 Blue rubber bleb nevus syndrome skos:closeMatch MONDO:0007203 blue rubber bleb nevus semapv:ManualMappingCuration +NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:closeMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:2201031 Primary lymphedema skos:closeMatch MONDO:0019175 primary lymphedema semapv:ManualMappingCuration +NANDO:2201032 Lymphangioma skos:closeMatch MONDO:0002013 lymphangioma semapv:ManualMappingCuration +NANDO:2201033 Lymphangiomatosis skos:closeMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:closeMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2201035 Kasabach-Merritt syndrome skos:closeMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2201038 Bilateral retinoblastoma skos:closeMatch MONDO:0003075 bilateral retinoblastoma semapv:ManualMappingCuration +NANDO:2201040 Bronchomalacia skos:closeMatch MONDO:0008888 Williams-Campbell syndrome semapv:ManualMappingCuration +NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:closeMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201047 Familial pulmonary arterial hypertension skos:closeMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201048 Secondary pulmonary arterial hypertension skos:closeMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:ManualMappingCuration +NANDO:2201050 Familial central diabetes insipidus skos:closeMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:ManualMappingCuration +NANDO:2201052 Multiple endocrine neoplasia type 2A skos:closeMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2201053 Multiple endocrine neoplasia type 2B skos:closeMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:ManualMappingCuration +NANDO:2201054 Medullary thyroid carcinoma skos:closeMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2201055 Systemic juvenile idiopathic arthritis skos:closeMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:closeMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:closeMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:ManualMappingCuration +NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:closeMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:closeMatch MONDO:0011849 psoriatic arthritis semapv:ManualMappingCuration +NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:closeMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:closeMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:2201067 Muckle-Wells syndrome skos:closeMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:2201068 familial cold autoinflammatory syndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:closeMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:closeMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:ManualMappingCuration +NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:closeMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:ManualMappingCuration +NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:closeMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:ManualMappingCuration +NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:closeMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:ManualMappingCuration +NANDO:2201075 Phenylalanine hydroxylase deficiency skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2201076 BH4 deficiency skos:closeMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:closeMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:2201078 Classic form maple syrup urine disease skos:closeMatch MONDO:0017051 classic maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201079 Intermediate maple syrup urine disease skos:closeMatch MONDO:0017052 intermediate maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201080 Intermittent maple syrup urine disease skos:closeMatch MONDO:0017053 intermittent maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:closeMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:closeMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:closeMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:ManualMappingCuration +NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:closeMatch MONDO:0016601 adult-onset citrullinemia type I semapv:ManualMappingCuration +NANDO:2201105 Methylmalonic acidemia cblA type skos:closeMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:2201106 Methylmalonic acidemia cblB type skos:closeMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:closeMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:2201108 Methylmalonic acidemia CblD type skos:closeMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:2201109 Methylcobalamin deficiency cblE type skos:closeMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:ManualMappingCuration +NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:closeMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:closeMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:closeMatch MONDO:0021915 arakawa syndrome 2 semapv:ManualMappingCuration +NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:closeMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:ManualMappingCuration +NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:closeMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2201151 Glycogen storage disease type 0a skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201152 Glycogen storage disease type 0b skos:closeMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201153 Glycogen storage disease type 1a skos:closeMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:ManualMappingCuration +NANDO:2201154 Glycogen storage disease type 1b skos:closeMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:closeMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:ManualMappingCuration +NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:closeMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:ManualMappingCuration +NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:closeMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:ManualMappingCuration +NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:closeMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:ManualMappingCuration +NANDO:2201163 Glycogen storage disease type IV, adult form skos:closeMatch MONDO:0009897 adult polyglucosan body disease semapv:ManualMappingCuration +NANDO:2201164 Glycogen storage disease type IXa skos:closeMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:2201165 Glycogen storage disease type IXb skos:closeMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:2201166 Glycogen storage disease type IXc skos:closeMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:2201167 Glycogen storage disease type IXd skos:closeMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:closeMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:closeMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:2201169 Scheie disease skos:closeMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:2201170 Hurler-Scheie disease skos:closeMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:closeMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:closeMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:closeMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:2201174 Mucopolysaccharidosis type III A skos:closeMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:2201175 Mucopolysaccharidosis type III B skos:closeMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:2201176 Mucopolysaccharidosis type III C skos:closeMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:2201177 Mucopolysaccharidosis type III D skos:closeMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:2201178 Mucopolysaccharidosis type IV A skos:closeMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:2201179 Mucopolysaccharidosis type IV B skos:closeMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:2201189 Alpha-mannosidosis, adult form skos:closeMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:2201190 Beta-mannosidosis skos:closeMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:2201191 Sialidosis type 1 skos:closeMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:2201192 Sialidosis type 2 skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201193 Galactosialidosis, early infantile form skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201196 GM1 gangliosidosis, infantile form skos:closeMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:2201197 GM1 gangliosidosis, juvenile form skos:closeMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:2201198 GM1 gangliosidosis, adult form skos:closeMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:2201199 Tay-Sachs disease skos:closeMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:2201200 Sandhoff disease skos:closeMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:2201201 GM2 gangliosidosis AB variant skos:closeMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:closeMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:closeMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:2201204 Metachromatic leukodystrophy, adult form skos:closeMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:2201205 Saposin B deficiency skos:closeMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:2201206 Niemann-Pick disease type A skos:closeMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:2201207 Niemann-Pick disease type B skos:closeMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:closeMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:2201210 Gaucher disease type 1 skos:closeMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:2201211 Gaucher disease type 2 skos:closeMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:2201212 Gaucher disease type 3 skos:closeMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:2201216 Infantile Krabbe disease skos:closeMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:2201219 Adult Krabbe disease skos:closeMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:2201229 Classic infantile Pompe disease skos:closeMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:2201232 Wolman disease skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2201233 Cholesterol ester storage disease skos:closeMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:closeMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:closeMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201235 Intermediate cystinosis skos:closeMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201236 Non-nephropathic cystinosis skos:closeMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:2201237 Infantile free sialic acid storage disease skos:closeMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:2201238 Intermediate severe Salla disease skos:closeMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201248 Adrenomyeloneuropathy skos:closeMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:2201255 Homozygous familial hypercholesterolemia skos:closeMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:closeMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:closeMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:closeMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:2201263 Acute intermittent porphyria skos:closeMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:2201264 Hereditary coproporphyria skos:closeMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:2201265 Variegate porphyria skos:closeMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:closeMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:closeMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:2201267 Porphyria cutanea tarda skos:closeMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:2201269 X-linked dominant protoporphyria skos:closeMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201270 Hepatoerythropoietic porphyria skos:closeMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:2201273 α-thalassemia skos:closeMatch MONDO:0011399 alpha thalassemia semapv:ManualMappingCuration +NANDO:2201274 β-thalassemia skos:closeMatch MONDO:0019402 beta thalassemia semapv:ManualMappingCuration +NANDO:2201275 Congenital aplastic anemia skos:closeMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:2201276 Idiopathic aplastic anemia skos:closeMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:ManualMappingCuration +NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:ManualMappingCuration +NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:ManualMappingCuration +NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:ManualMappingCuration +NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:ManualMappingCuration +NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:closeMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2201288 Pelizaeus-Merzbacher disease skos:closeMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:2201289 Pelizaeus-Merzbacher like disease skos:closeMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:closeMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:2201291 18q-syndrome skos:closeMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:2201292 Allan-Herndon-Dudley syndrome skos:closeMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:closeMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:2201294 Salla disease skos:closeMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:closeMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:2201296 Hypomyelination and congenital cataract skos:closeMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:closeMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:closeMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:2201299 AGAT deficiency skos:closeMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:2201300 GAMT deficiency skos:closeMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:2201301 SLC6A8 deficiency skos:closeMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:closeMatch MONDO:0018112 isolated scaphocephaly semapv:ManualMappingCuration +NANDO:2201305 Non-syndromic metopic craniosynostosis skos:closeMatch MONDO:0018065 isolated trigonocephaly semapv:ManualMappingCuration +NANDO:2201317 Anti-NMDA receptor encephalitis skos:closeMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:ManualMappingCuration +NANDO:2201319 Relapsing-remitting multiple sclerosis skos:closeMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:2201320 Primary progressive multiple sclerosis skos:closeMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201321 Secondary progressive multiple sclerosis skos:closeMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201322 Neuromyelitis optica skos:closeMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:2201341 Epidermolysis bullosa simplex skos:closeMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201342 Junctional epidermolysis bullosa skos:closeMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201343 Dystrophic epidermolysis bullosa skos:closeMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:closeMatch MONDO:0008702 achondrogenesis type II semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:closeMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:closeMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:closeMatch MONDO:0019669 hypochondrogenesis semapv:ManualMappingCuration +NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:closeMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:ManualMappingCuration +NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:closeMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:ManualMappingCuration +NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualMappingCuration +NANDO:2201350 Kniest dysplasia skos:closeMatch MONDO:0007987 Kniest dysplasia semapv:ManualMappingCuration +NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:closeMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:ManualMappingCuration +NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:closeMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:ManualMappingCuration +NANDO:2201354 Stickler syndrome type 1 skos:closeMatch MONDO:0007160 Stickler syndrome type 1 semapv:ManualMappingCuration +NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:closeMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:closeMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:2201358 CHILD syndrome skos:closeMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:ManualMappingCuration +NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:closeMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201361 Greenberg dysplasia skos:closeMatch MONDO:0008974 Greenberg dysplasia semapv:ManualMappingCuration +NANDO:2201362 Astley-Kendall dysplasia skos:closeMatch MONDO:0019408 Astley-Kendall dysplasia semapv:ManualMappingCuration +NANDO:2201364 Melorheostosis skos:closeMatch MONDO:0007970 melorheostosis semapv:ManualMappingCuration +NANDO:2201365 Dysosteosclerosis skos:closeMatch MONDO:0009138 dysosteosclerosis semapv:ManualMappingCuration +NANDO:2201366 Craniometaphyseal dysplasia skos:closeMatch MONDO:0015465 craniometaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201367 Metaphyseal dysplasias skos:closeMatch MONDO:0009943 Pyle disease semapv:ManualMappingCuration +NANDO:2201368 Craniodiaphyseal dysplasia skos:closeMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201369 Sclerosteosis skos:closeMatch MONDO:0017838 sclerosteosis semapv:ManualMappingCuration +NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:closeMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:closeMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:ManualMappingCuration +NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:closeMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:ManualMappingCuration +NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:closeMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:closeMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:closeMatch MONDO:0009326 congenital heart block semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:closeMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:closeMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:closeMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:closeMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:closeMatch MONDO:0019328 macrocystic lymphatic malformation semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:closeMatch MONDO:0007099 familial visceral amyloidosis semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:closeMatch MONDO:0007879 larynx atresia semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:closeMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:closeMatch MONDO:0015446 atypical coarctation of aorta semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:closeMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:closeMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:closeMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200174 Chronic progressive external ophthalmoplegia skos:closeMatch MONDO:0005181 progressive external ophthalmoplegia semapv:ManualMappingCuration +NANDO:1201032 Cerebral creatine deficiency syndromes skos:closeMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:closeMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:closeMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:1201035 Creatine transporter deficiency skos:closeMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:closeMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:closeMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:ManualMappingCuration +NANDO:1201038 Homocystinuria skos:closeMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:1201039 Homocystinuria type 1 skos:closeMatch MONDO:0009352 classic homocystinuria semapv:ManualMappingCuration +NANDO:1201040 Homocystinuria type 2 skos:closeMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:1201041 Homocystinuria type 3 skos:closeMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:ManualMappingCuration +NANDO:1201042 Progressive familial intrahepatic cholestasis skos:closeMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:closeMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:ManualMappingCuration +NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:closeMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:ManualMappingCuration +NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:closeMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:ManualMappingCuration +NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:closeMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:ManualMappingCuration +NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:closeMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:ManualMappingCuration +NANDO:1201048 Acquired factor X inhibitor skos:closeMatch MONDO:0021134 acquired factor X deficiency semapv:ManualMappingCuration +NANDO:1201049 Senior-Loken syndrome skos:closeMatch MONDO:0017842 Senior-Loken syndrome semapv:ManualMappingCuration +NANDO:1201050 COACH syndrome skos:closeMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:ManualMappingCuration +NANDO:1201051 Oral-facial-digital syndrome skos:closeMatch MONDO:0015375 orofaciodigital syndrome semapv:ManualMappingCuration +NANDO:1201056 End-plate acetylcholine esterase deficiency skos:closeMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:ManualMappingCuration +NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:closeMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:ManualMappingCuration +NANDO:1201058 RAPADILINO syndrome skos:closeMatch MONDO:0009955 rapadilino syndrome semapv:ManualMappingCuration +NANDO:1201059 Baller-Gerold syndrome skos:closeMatch MONDO:0009039 Baller-Gerold syndrome semapv:ManualMappingCuration +NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:closeMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:closeMatch MONDO:0019731 AApoAI amyloidosis semapv:ManualMappingCuration +NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:closeMatch MONDO:0007097 Finnish type amyloidosis semapv:ManualMappingCuration +NANDO:1201064 Kearns-Sayre syndrome skos:closeMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:closeMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:closeMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:closeMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:closeMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:closeMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201070 Subcortical band heterotopia skos:closeMatch MONDO:0020491 subcortical band heterotopia semapv:ManualMappingCuration +NANDO:1201079 Periventricular nodular heterotopia skos:closeMatch MONDO:0020341 periventricular nodular heterotopia semapv:ManualMappingCuration +NANDO:1201071 Polymicrogyria skos:closeMatch MONDO:0000087 polymicrogyria semapv:ManualMappingCuration +NANDO:1201072 Cobblestone brain malformation skos:closeMatch MONDO:0018869 cobblestone lissencephaly semapv:ManualMappingCuration +NANDO:1201073 Schizencephaly skos:closeMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:1201074 Porencephaly skos:closeMatch MONDO:0017410 porencephaly semapv:ManualMappingCuration +NANDO:1201080 Protein C deficiency skos:closeMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:1201081 Protein S deficiency skos:closeMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:1201083 Miller Dieker syndrome skos:closeMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:ManualMappingCuration +NANDO:1201075 Pseudohypoparathyroidism type 1A skos:closeMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:ManualMappingCuration +NANDO:1201076 Pseudohypoparathyroidism type 1B skos:closeMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:ManualMappingCuration +NANDO:1201077 Pseudohypoparathyroidism type 1C skos:closeMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:ManualMappingCuration +NANDO:1201078 Pseudohypoparathyroidism type 2 skos:closeMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:ManualMappingCuration +NANDO:2201385 Galloway-Mowat syndrome skos:closeMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200892 Hereditary sideroblastic anemia skos:closeMatch MONDO:0020099 inherited sideroblastic anemia semapv:ManualMappingCuration +NANDO:1200079 Late infantile metachromatic leukodystrophy skos:closeMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:1200081 Adult metachromatic leukodystrophy skos:closeMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:closeMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:1200428 Pulmonary capillary hemangiomatosis skos:closeMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200480 Minicore myopathy skos:closeMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:1200568 Focal cortical dysplasia type 2a skos:closeMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:ManualMappingCuration +NANDO:1200569 Focal cortical dysplasia type 2b skos:closeMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:ManualMappingCuration +NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:closeMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200693 Truncus arteriosus communis skos:closeMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:1200751 Alveolar hypoventilation syndrome skos:closeMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:1200817 Congenital erythropoietic porphyria skos:closeMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:1200831 Phosphoglycerate kinase deficiency skos:closeMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:ManualMappingCuration +NANDO:1200889 Acquired pure red cell aplasia skos:closeMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:1200995 Adenosine deaminase 2 deficiency skos:closeMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200054 Primitive neuroectodermal tumors skos:closeMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200111 Diffuse mesangial sclerosis skos:closeMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:ManualMappingCuration +NANDO:2200197 Bronchial asthma skos:closeMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2200261 Truncus arteriosus communis skos:closeMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:closeMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200374 21-Hydroxylase deficiency skos:closeMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200384 Ovarian dysgenesis skos:closeMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200389 5 alpha-reductase deficiency skos:closeMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:ManualMappingCuration +NANDO:2200425 Polyangiitis nodosa skos:closeMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:2200441 Adenosine deaminase 2 deficiency skos:closeMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200450 Deficiency of the enzyme ADA2 skos:closeMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200459 NLRC4 mutation skos:closeMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200603 Familial combined hyperlipidemia skos:closeMatch MONDO:0001336 familial hyperlipidemia semapv:ManualMappingCuration +NANDO:2200610 Congenital porphyria skos:closeMatch MONDO:0019142 inherited porphyria semapv:ManualMappingCuration +NANDO:2200613 Acquired pure red cell aplasia skos:closeMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:2200672 Afibrinogenemia skos:closeMatch MONDO:0008737 congenital afibrinogenemia semapv:ManualMappingCuration +NANDO:2200673 Hypoprothrombinemia skos:closeMatch MONDO:0013361 congenital prothrombin deficiency semapv:ManualMappingCuration +NANDO:2200700 ZAP-70 deficiency skos:closeMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:2200737 STAT5b deficiency skos:closeMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:ManualMappingCuration +NANDO:2200773 CARD9 deficiency skos:closeMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:ManualMappingCuration +NANDO:2200788 Factor D deficiency skos:closeMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:ManualMappingCuration +NANDO:2200790 Factor I deficiency skos:closeMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200793 MASP2 deficiency skos:closeMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:ManualMappingCuration +NANDO:2200794 Ficolin 3 Deficiency skos:closeMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:ManualMappingCuration +NANDO:2200798 Factor I deficiency skos:closeMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200872 Minicore myopathy skos:closeMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:ManualMappingCuration +NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:closeMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201268 Congenital erythropoietic porphyria skos:closeMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:2201277 Secondary aplastic anemia skos:closeMatch MONDO:0015610 acquired aplastic anemia semapv:ManualMappingCuration +NANDO:2201351 Spondyloperipheral dysplasia skos:closeMatch MONDO:0010078 spondyloperipheral dysplasia semapv:ManualMappingCuration From 80a00ba0e2df1f4540ffadfeb644ed6f08486def Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Fri, 31 May 2024 11:58:42 +0300 Subject: [PATCH 14/14] Fixed the remaining issues of the pipeline --- src/mappings/mondo-nando.sssom.tsv | 4694 ++-- .../external/nando-mappings.robot.owl | 18768 +++++++++++++++- .../external/nando-mappings.robot.tsv | 4692 ++-- src/ontology/mondo-ingest.Makefile | 5 + 4 files changed, 23465 insertions(+), 4694 deletions(-) diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index 2827d3ec..9be6db7c 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -12,2355 +12,2355 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://creativecommons.org/licenses/by/4.0/ -# mapping_provider: http://nanbyodata.jp +# mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/a6343dbe-7053-491b-8790-68defac5af21 +# mapping_set_id: https://w3id.org/sssom/mappings/efd77aeb-7328-429f-a425-44497b148b42 # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification -MONDO:0019056 neuromuscular disease skos:exactMatch NANDO:1100001 Neuromuscular disease semapv:MappingInversion -MONDO:0004955 obsolete metabolic syndrome skos:exactMatch NANDO:1100002 Metabolic disease semapv:MappingInversion -MONDO:0005066 metabolic disease skos:exactMatch NANDO:1100002 Metabolic disease semapv:MappingInversion -MONDO:0005046 immune system disorder skos:exactMatch NANDO:1100004 Immune system disease semapv:MappingInversion -MONDO:0004995 cardiovascular disorder skos:exactMatch NANDO:1100005 Cardiovascular disease semapv:MappingInversion -MONDO:0005570 hematologic disorder skos:exactMatch NANDO:1100006 Blood disease semapv:MappingInversion -MONDO:0005151 endocrine system disorder skos:exactMatch NANDO:1100009 Endocrine disease semapv:MappingInversion -MONDO:0005087 respiratory system disorder skos:exactMatch NANDO:1100010 Respiratory disease semapv:MappingInversion -MONDO:0004335 digestive system disorder skos:exactMatch NANDO:1100013 Gastrointestinal disease semapv:MappingInversion -MONDO:0019040 chromosomal disorder skos:exactMatch NANDO:1100014 Chromosome abnormality semapv:MappingInversion -MONDO:0024623 otorhinolaryngologic disease skos:exactMatch NANDO:1100015 Otorhinolaryngological disease semapv:MappingInversion -MONDO:0010735 Kennedy disease skos:exactMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion -MONDO:0016113 bulbospinal muscular atrophy skos:exactMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion -MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch NANDO:1200002 Amyotrophic lateral sclerosis semapv:MappingInversion -MONDO:0001516 spinal muscular atrophy skos:exactMatch NANDO:1200003 Spinal muscular atrophy semapv:MappingInversion -MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch NANDO:1200004 Spinal muscular atrophy type I semapv:MappingInversion -MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch NANDO:1200005 Spinal muscular atrophy type II semapv:MappingInversion -MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch NANDO:1200006 Spinal muscular atrophy type III semapv:MappingInversion -MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch NANDO:1200007 Spinal muscular atrophy type IV semapv:MappingInversion -MONDO:0018155 lateral sclerosis skos:exactMatch NANDO:1200008 Primary lateral sclerosis semapv:MappingInversion -MONDO:0019037 progressive supranuclear palsy skos:exactMatch NANDO:1200009 Progressive supranuclear palsy semapv:MappingInversion -MONDO:0005180 Parkinson disease skos:exactMatch NANDO:1200010 Parkinson's disease semapv:MappingInversion -MONDO:0022308 corticobasal degeneration disorder skos:exactMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion -MONDO:0022880 obsolete corticobasal degeneration skos:exactMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion -MONDO:0007739 Huntington disease skos:exactMatch NANDO:1200012 Huntington's disease semapv:MappingInversion -MONDO:0016987 neuroacanthocytosis skos:exactMatch NANDO:1200013 Neuroacanthocytosis semapv:MappingInversion -MONDO:0008695 chorea-acanthocytosis skos:exactMatch NANDO:1200014 Chorea-acanthocytosis semapv:MappingInversion -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch NANDO:1200015 McLeod syndrome semapv:MappingInversion -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch NANDO:1200016 Charcot-Marie-Tooth disease semapv:MappingInversion -MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch NANDO:1200017 Charcot-Marie-Tooth disease type 1 semapv:MappingInversion -MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:exactMatch NANDO:1200018 Charcot-Marie-Tooth disease type 2 semapv:MappingInversion -MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:exactMatch NANDO:1200019 Intermediate Charcot-Marie-Tooth disease semapv:MappingInversion -MONDO:0009688 myasthenia gravis skos:exactMatch NANDO:1200020 Myasthenia gravis semapv:MappingInversion -MONDO:0018940 congenital myasthenic syndrome skos:exactMatch NANDO:1200021 Congenital myasthenic syndrome semapv:MappingInversion -MONDO:0005301 multiple sclerosis skos:exactMatch NANDO:1200023 Multiple sclerosis semapv:MappingInversion -MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NANDO:1200024 Relapsing-remitting multiple sclerosis semapv:MappingInversion -MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch NANDO:1200025 Primary progressive multiple sclerosis semapv:MappingInversion -MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch NANDO:1200026 Secondary progressive multiple sclerosis semapv:MappingInversion -MONDO:0019100 neuromyelitis optica skos:exactMatch NANDO:1200027 Neuromyelitis optica spectrum disorders semapv:MappingInversion -MONDO:0016430 Balo concentric sclerosis skos:exactMatch NANDO:1200028 Baló concentric sclerosis semapv:MappingInversion -MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0018979 multifocal motor neuropathy skos:exactMatch NANDO:1200031 Multifocal motor neuropathy semapv:MappingInversion -MONDO:0007827 inclusion body myositis skos:exactMatch NANDO:1200032 Sporadic inclusion body myositis semapv:MappingInversion -MONDO:0017364 POEMS syndrome skos:exactMatch NANDO:1200033 Crow-Fukase syndrome semapv:MappingInversion -MONDO:0007803 multiple system atrophy skos:exactMatch NANDO:1200034 Multiple system atrophy semapv:MappingInversion -MONDO:0016418 multiple system atrophy, cerebellar type skos:exactMatch NANDO:1200035 Multiple system atrophy, cerebellar type semapv:MappingInversion -MONDO:0020352 multiple system atrophy, parkinsonian type skos:exactMatch NANDO:1200036 Multiple system atrophy, Parkinsonian type semapv:MappingInversion -MONDO:0000437 cerebellar ataxia skos:exactMatch NANDO:1200037 Spinocerebellar degeneration semapv:MappingInversion -MONDO:0007182 Machado-Joseph disease skos:exactMatch NANDO:1200041 Spinocerebellar ataxia type 3 semapv:MappingInversion -MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch NANDO:1200042 Spinocerebellar ataxia type 6 semapv:MappingInversion -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch NANDO:1200043 Dentatorubropallidoluysian atrophy semapv:MappingInversion -MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch NANDO:1200044 Spinocerebellar ataxia type 31 semapv:MappingInversion -MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch NANDO:1200045 Spinocerebellar ataxia type 1 semapv:MappingInversion -MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch NANDO:1200046 Spinocerebellar ataxia type 2 semapv:MappingInversion -MONDO:0008120 obsolete spinocerebellar ataxia type 7 skos:exactMatch NANDO:1200047 Spinocerebellar ataxia type 7 semapv:MappingInversion -MONDO:0013594 spinocerebellar ataxia type 36 skos:exactMatch NANDO:1200048 Spinocerebellar ataxia type 36 semapv:MappingInversion -MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NANDO:1200050 Ataxia with isolated vitamin E deficiency semapv:MappingInversion -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch NANDO:1200051 Ataxia-oculomotor apraxia type 1 semapv:MappingInversion -MONDO:0019064 hereditary spastic paraplegia skos:exactMatch NANDO:1200052 Hereditary spastic paraplegia semapv:MappingInversion -MONDO:0015149 pure hereditary spastic paraplegia skos:exactMatch NANDO:1200053 Pure hereditary spastic paraplegia semapv:MappingInversion -MONDO:0015150 complex hereditary spastic paraplegia skos:exactMatch NANDO:1200054 Complex hereditary spastic paraplegia semapv:MappingInversion -MONDO:0002561 lysosomal storage disease skos:exactMatch NANDO:1200055 Lysosomal storage disease semapv:MappingInversion -MONDO:0018150 Gaucher disease skos:exactMatch NANDO:1200056 Gaucher disease semapv:MappingInversion -MONDO:0009265 Gaucher disease type I skos:exactMatch NANDO:1200057 Gaucher disease type 1 semapv:MappingInversion -MONDO:0009266 Gaucher disease type II skos:exactMatch NANDO:1200058 Gaucher disease type 2 semapv:MappingInversion -MONDO:0009267 Gaucher disease type III skos:exactMatch NANDO:1200059 Gaucher disease type 3 semapv:MappingInversion -MONDO:0009756 Niemann-Pick disease type A skos:exactMatch NANDO:1200061 Niemann-Pick disease type A semapv:MappingInversion -MONDO:0011871 Niemann-Pick disease type B skos:exactMatch NANDO:1200062 Niemann-Pick disease type B semapv:MappingInversion -MONDO:0018982 Niemann-Pick disease type C skos:exactMatch NANDO:1200063 Niemann-Pick disease type C semapv:MappingInversion -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch NANDO:1200065 Adult-onset Niemann-Pick disease type C semapv:MappingInversion -MONDO:0018149 GM1 gangliosidosis skos:exactMatch NANDO:1200066 GM1 gangliosidosis semapv:MappingInversion -MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch NANDO:1200067 Infantile GM1 gangliosidosis semapv:MappingInversion -MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch NANDO:1200068 Juvenile GM1 gangliosidosis semapv:MappingInversion -MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch NANDO:1200069 Adult GM1 gangliosidosis semapv:MappingInversion -MONDO:0017720 GM2 gangliosidosis skos:exactMatch NANDO:1200070 GM2 gangliosidosis semapv:MappingInversion -MONDO:0010100 Tay-Sachs disease skos:exactMatch NANDO:1200071 Tay-Sachs disease semapv:MappingInversion -MONDO:0010006 Sandhoff disease skos:exactMatch NANDO:1200072 Sandhoff disease semapv:MappingInversion -MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch NANDO:1200073 GM2 gangliosidosis AB variant semapv:MappingInversion -MONDO:0009499 Krabbe disease skos:exactMatch NANDO:1200074 Krabbe disease semapv:MappingInversion -MONDO:0016089 infantile Krabbe disease skos:exactMatch NANDO:1200075 Infantile Krabbe disease semapv:MappingInversion -MONDO:0016091 adult Krabbe disease skos:exactMatch NANDO:1200077 Adult Krabbe disease semapv:MappingInversion -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch NANDO:1200078 Metachromatic leukodystrophy semapv:MappingInversion -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch NANDO:1200079 Late infantile metachromatic leukodystrophy semapv:MappingInversion -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch NANDO:1200080 Juvenile ｍetachromatic leukodystrophy semapv:MappingInversion -MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch NANDO:1200081 Adult metachromatic leukodystrophy semapv:MappingInversion -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch NANDO:1200082 Saposin B deficiency semapv:MappingInversion -MONDO:0010088 mucosulfatidosis skos:exactMatch NANDO:1200083 Multiple sulfatase deficiency semapv:MappingInversion -MONDO:0009218 Farber lipogranulomatosis skos:exactMatch NANDO:1200086 Farber disease semapv:MappingInversion -MONDO:0011758 Hurler syndrome skos:exactMatch NANDO:1200094 Hurler syndrome semapv:MappingInversion -MONDO:0011760 Scheie syndrome skos:exactMatch NANDO:1200095 Scheie syndrome semapv:MappingInversion -MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch NANDO:1200096 Hurler-Scheie syndrome semapv:MappingInversion -MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch NANDO:1200097 Hunter syndrome semapv:MappingInversion -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch NANDO:1200098 Hunter syndrome type A semapv:MappingInversion -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch NANDO:1200099 Hunter syndrome type B semapv:MappingInversion -MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch NANDO:1200100 Sanfilippo disease semapv:MappingInversion -MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch NANDO:1200101 Sanfilippo disease type A semapv:MappingInversion -MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch NANDO:1200102 Sanfilippo disease type B semapv:MappingInversion -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch NANDO:1200103 Sanfilippo disease type C semapv:MappingInversion -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch NANDO:1200104 Sanfilippo disease type D semapv:MappingInversion -MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch NANDO:1200105 Morquio syndrome semapv:MappingInversion -MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch NANDO:1200106 Morquio syndrome type A semapv:MappingInversion -MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch NANDO:1200107 Morquio syndrome type B semapv:MappingInversion -MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:1200108 Maroteaux-Lamy syndrome semapv:MappingInversion -MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form semapv:MappingInversion -MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form semapv:MappingInversion -MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch NANDO:1200111 Sly syndrome semapv:MappingInversion -MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch NANDO:1200115 Hyaluronidase deficiency semapv:MappingInversion -MONDO:0017734 sialidosis skos:exactMatch NANDO:1200116 Sialidosis semapv:MappingInversion -MONDO:0019346 sialidosis type 1 skos:exactMatch NANDO:1200117 Sialidosis type 1 semapv:MappingInversion -MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:1200118 Sialidosis type 2 semapv:MappingInversion -MONDO:0009737 galactosialidosis skos:exactMatch NANDO:1200119 Galactosialidosis semapv:MappingInversion -MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:1200120 Galactosialidosis, early infantile form semapv:MappingInversion -MONDO:0009650 mucolipidosis type II skos:exactMatch NANDO:1200124 Mucolipidosis II semapv:MappingInversion -MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch NANDO:1200125 Mucolipidosis III semapv:MappingInversion -MONDO:0009561 alpha-mannosidosis skos:exactMatch NANDO:1200126 Alpha-mannosidosis semapv:MappingInversion -MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion -MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion -MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch NANDO:1200128 Alpha-mannosidosis, adult form semapv:MappingInversion -MONDO:0009562 beta-mannosidosis skos:exactMatch NANDO:1200129 Beta-mannosidosis semapv:MappingInversion -MONDO:0009254 fucosidosis skos:exactMatch NANDO:1200130 Fucosidosis semapv:MappingInversion -MONDO:0008830 aspartylglucosaminuria skos:exactMatch NANDO:1200133 Aspartylglucosaminuria semapv:MappingInversion -MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:exactMatch NANDO:1200134 Schindler disease semapv:MappingInversion -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch NANDO:1200135 Schindler disease type I semapv:MappingInversion -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch NANDO:1200136 Schindler disease type 2 semapv:MappingInversion -MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:exactMatch NANDO:1200137 Schindler disease type 3 semapv:MappingInversion -MONDO:0009290 glycogen storage disease II skos:exactMatch NANDO:1200138 Pompe disease semapv:MappingInversion -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch NANDO:1200139 Classic infantile Pompe disease semapv:MappingInversion -MONDO:0019148 Wolman disease skos:exactMatch NANDO:1200142 Acid lipase deficiency semapv:MappingInversion -MONDO:0019148 Wolman disease skos:exactMatch NANDO:1200143 Wolman disease semapv:MappingInversion -MONDO:0019149 cholesteryl ester storage disease skos:exactMatch NANDO:1200144 Cholesterol ester storage disease semapv:MappingInversion -MONDO:0010281 Danon disease skos:exactMatch NANDO:1200145 Danon disease semapv:MappingInversion -MONDO:0019366 free sialic acid storage disease skos:exactMatch NANDO:1200146 Free sialic acid storage disease semapv:MappingInversion -MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch NANDO:1200147 Infantile free sialic acid storage disease semapv:MappingInversion -MONDO:0017737 intermediate severe Salla disease skos:exactMatch NANDO:1200148 Intermediate severe Salla disease semapv:MappingInversion -MONDO:0011449 Salla disease skos:exactMatch NANDO:1200149 Salla disease semapv:MappingInversion -MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200150 Neuronal ceroid-lipofuscinosis semapv:MappingInversion -MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200151 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch NANDO:1200155 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0010526 Fabry disease skos:exactMatch NANDO:1200157 Fabry disease semapv:MappingInversion -MONDO:0016239 cystinosis skos:exactMatch NANDO:1200161 Cystinosis semapv:MappingInversion -MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion -MONDO:0100151 nephropathic cystinosis skos:exactMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion -MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch NANDO:1200163 Intermediate cystinosis semapv:MappingInversion -MONDO:0009064 ocular cystinosis skos:exactMatch NANDO:1200164 Non-nephropathic cystinosis semapv:MappingInversion -MONDO:0018544 adrenoleukodystrophy skos:exactMatch NANDO:1200165 Adrenoleukodystrophy semapv:MappingInversion -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch NANDO:1200166 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch NANDO:1200168 Adrenomyeloneuropathy semapv:MappingInversion -MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion -MONDO:0044970 mitochondrial disease skos:exactMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion -MONDO:0005181 progressive external ophthalmoplegia skos:exactMatch NANDO:1200174 Chronic progressive external ophthalmoplegia semapv:MappingInversion -MONDO:0009723 Leigh syndrome skos:exactMatch NANDO:1200175 Leigh's encephalomyelopathy semapv:MappingInversion -MONDO:0010789 MELAS syndrome skos:exactMatch NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome semapv:MappingInversion -MONDO:0010790 MERRF syndrome skos:exactMatch NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion -MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch NANDO:1200178 Leber hereditary optic neuropathy semapv:MappingInversion -MONDO:0100133 mitochondrial complex I deficiency skos:exactMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:exactMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion -MONDO:0009641 obsolete mitochondrial complex II deficiency skos:exactMatch NANDO:1200181 Mitochondrial complex II deficiency semapv:MappingInversion -MONDO:0016820 Moyamoya disease skos:exactMatch NANDO:1200183 Moyamoya disease semapv:MappingInversion -MONDO:0005429 prion disease skos:exactMatch NANDO:1200186 Prion disease semapv:MappingInversion -MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200187 Sporadic Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0017234 inherited prion disease skos:exactMatch NANDO:1200188 Genetic prion diseases semapv:MappingInversion -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200189 Familial Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome semapv:MappingInversion -MONDO:0010808 fatal familial insomnia skos:exactMatch NANDO:1200191 Fatal familial insomnia semapv:MappingInversion -MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0007012 variant Creutzfeldt-Jakob disease skos:exactMatch NANDO:1200194 Variant Creutzfeldt-Jakob disease semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:1200195 Subacute sclerosing panencephalitis semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:1200196 Typical subacute sclerosing panencephalitis semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:1200198 Subacute progressive sclerosing panencephalitis semapv:MappingInversion -MONDO:0016318 progressive multifocal leukoencephalopathy skos:exactMatch NANDO:1200205 Progressive multifocal leukoencephalopathy semapv:MappingInversion -MONDO:0008039 tropical spastic paraparesis skos:exactMatch NANDO:1200206 HTLV-1-associated myelopathy semapv:MappingInversion -MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch NANDO:1200207 Idiopathic basal ganglia calcification semapv:MappingInversion -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:exactMatch NANDO:1200208 Familial idiopathic basal ganglia calcification semapv:MappingInversion -MONDO:0017816 primary systemic amyloidosis skos:exactMatch NANDO:1200209 Systemic amyloidosis semapv:MappingInversion -MONDO:0019438 AL amyloidosis skos:exactMatch NANDO:1200211 Amyloid light-chain amyloidosis semapv:MappingInversion -MONDO:0018018 wild type ATTR amyloidosis skos:exactMatch NANDO:1200212 Transthyretin-related senile systemic amyloidosis semapv:MappingInversion -MONDO:0007100 familial amyloid neuropathy skos:exactMatch NANDO:1200214 Familial amyloid polyneuropathy semapv:MappingInversion -MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch NANDO:1200215 Ullrich disease semapv:MappingInversion -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:exactMatch NANDO:1200215 Ullrich disease semapv:MappingInversion -MONDO:0018949 distal myopathy skos:exactMatch NANDO:1200216 Distal myopathy semapv:MappingInversion -MONDO:0009685 Miyoshi myopathy skos:exactMatch NANDO:1200217 Miyoshi myopathy semapv:MappingInversion -MONDO:0007827 inclusion body myositis skos:exactMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion -MONDO:0011603 GNE myopathy skos:exactMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion -MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:exactMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion -MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion -MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion -MONDO:0008029 Bethlem myopathy skos:exactMatch NANDO:1200220 Bethlem Myopathy semapv:MappingInversion -MONDO:0010281 Danon disease skos:exactMatch NANDO:1200222 Danon disease semapv:MappingInversion -MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch NANDO:1200223 X-linked Myopathy with excessive autophagy semapv:MappingInversion -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NANDO:1200224 Schwartz-Jampel syndrome semapv:MappingInversion -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion -MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion -MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion -MONDO:0007039 neurofibromatosis type 2 skos:exactMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion -MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion -MONDO:0006594 pemphigus skos:exactMatch NANDO:1200228 Pemphigus semapv:MappingInversion -MONDO:0008219 pemphigus vulgaris skos:exactMatch NANDO:1200229 Pemphigus vulgaris semapv:MappingInversion -MONDO:0019324 pemphigus foliaceus skos:exactMatch NANDO:1200230 Pemphigus foliaceus semapv:MappingInversion -MONDO:0018974 paraneoplastic pemphigus skos:exactMatch NANDO:1200231 Paraneoplastic pemphigus semapv:MappingInversion -MONDO:0019322 pemphigus vegetans skos:exactMatch NANDO:1200232 Pemphigus vegetans semapv:MappingInversion -MONDO:0019323 pemphigus erythematosus skos:exactMatch NANDO:1200233 Pemphigus erythematosus semapv:MappingInversion -MONDO:0006541 epidermolysis bullosa skos:exactMatch NANDO:1200234 Epidermolysis bullosa semapv:MappingInversion -MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NANDO:1200235 Epidermolysis bullosa simplex semapv:MappingInversion -MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch NANDO:1200236 Junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch NANDO:1200238 Recessive dystrophic epidermolysis bullosa semapv:MappingInversion -MONDO:0008260 Kindler syndrome skos:exactMatch NANDO:1200239 Kindler syndrome semapv:MappingInversion -MONDO:0016597 obsolete generalized pustular psoriasis skos:exactMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion -MONDO:0022205 pustular psoriasis skos:exactMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion -MONDO:0004591 impetigo herpetiformis skos:exactMatch NANDO:1200243 Impetigo herpetiformis semapv:MappingInversion -MONDO:0013626 psoriasis 14, pustular skos:exactMatch NANDO:1200244 Acrodermatitis continua of Hallopeau semapv:MappingInversion -MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NANDO:1200245 Stevens-Johnson syndrome semapv:MappingInversion -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch NANDO:1200246 Toxic epidermal necrolysis semapv:MappingInversion -MONDO:0006656 aortitis skos:exactMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion -MONDO:0017991 Takayasu arteritis skos:exactMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion -MONDO:0008538 temporal arteritis skos:exactMatch NANDO:1200258 Giant cell arteritis semapv:MappingInversion -MONDO:0008538 temporal arteritis skos:exactMatch NANDO:1200259 Cranial giant cell arteritis semapv:MappingInversion -MONDO:0008538 temporal arteritis skos:exactMatch NANDO:1200260 Large-vessel giant cell arteritis semapv:MappingInversion -MONDO:0019170 polyarteritis nodosa skos:exactMatch NANDO:1200261 Polyarteritis nodosa semapv:MappingInversion -MONDO:0019124 microscopic polyangiitis skos:exactMatch NANDO:1200262 Microscopic polyangiitis semapv:MappingInversion -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NANDO:1200263 Granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch NANDO:1200264 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0043267 rheumatoid vasculitis skos:exactMatch NANDO:1200265 Rheumatoid vasculitis semapv:MappingInversion -MONDO:0008889 thromboangiitis obliterans skos:exactMatch NANDO:1200266 Buerger's disease semapv:MappingInversion -MONDO:0005204 primary antiphospholipid syndrome skos:exactMatch NANDO:1200267 Primary antiphospholipid antibody syndrome semapv:MappingInversion -MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch NANDO:1200270 Catastrophic antiphospholipid syndrome semapv:MappingInversion -MONDO:0007140 obsolete antiphospholipid syndrome skos:exactMatch NANDO:1200271 Antiphospholipid antibody-related disease semapv:MappingInversion -MONDO:0007915 systemic lupus erythematosus skos:exactMatch NANDO:1200272 Systemic lupus erythematosus semapv:MappingInversion -MONDO:0016367 dermatomyositis skos:exactMatch NANDO:1200274 Dermatomyositis semapv:MappingInversion -MONDO:0043317 amyopathic dermatomyositis skos:exactMatch NANDO:1200275 Amyopathic dermatomyositis semapv:MappingInversion -MONDO:0019127 polymyositis skos:exactMatch NANDO:1200276 Polymyositis semapv:MappingInversion -MONDO:0005100 systemic sclerosis skos:exactMatch NANDO:1200277 Systemic sclerosis semapv:MappingInversion -MONDO:0005854 mixed connective tissue disease skos:exactMatch NANDO:1200278 Mixed connective tissue disease semapv:MappingInversion -MONDO:0010030 Sjogren syndrome skos:exactMatch NANDO:1200279 Sjogren's syndrome semapv:MappingInversion -MONDO:0010030 Sjogren syndrome skos:exactMatch NANDO:1200280 Primary Sjogren's syndrome semapv:MappingInversion -MONDO:0019355 adult-onset Still disease skos:exactMatch NANDO:1200282 Adult Still's disease semapv:MappingInversion -MONDO:0019125 relapsing polychondritis skos:exactMatch NANDO:1200283 Relapsing polychondritis semapv:MappingInversion -MONDO:0007191 Behcet disease skos:exactMatch NANDO:1200284 Behcet's disease semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:1200286 Hypertrophic cardiomyopathy semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:1200288 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion -MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:1200292 Restrictive cardiomyopathy semapv:MappingInversion -MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:1200293 Idiopathic restrictive cardiomyopathy semapv:MappingInversion -MONDO:0016345 non-familial restrictive cardiomyopathy skos:exactMatch NANDO:1200294 Secondary restrictive cardiomyopathy semapv:MappingInversion -MONDO:0015909 aplastic anemia skos:exactMatch NANDO:1200295 Aplastic anemia semapv:MappingInversion -MONDO:0012197 idiopathic aplastic anemia skos:exactMatch NANDO:1200296 Idiopathic aplastic anemia semapv:MappingInversion -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome semapv:MappingInversion -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:exactMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion -MONDO:0015909 aplastic anemia skos:exactMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion -MONDO:0001713 inherited aplastic anemia skos:exactMatch NANDO:1200302 Congenital aplastic anemia semapv:MappingInversion -MONDO:0019391 Fanconi anemia skos:exactMatch NANDO:1200303 Fanconi anemia semapv:MappingInversion -MONDO:0015780 dyskeratosis congenita skos:exactMatch NANDO:1200304 Dyskeratosis congenita semapv:MappingInversion -MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch NANDO:1200305 Autoimmune hemolytic anemia semapv:MappingInversion -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:exactMatch NANDO:1200306 Warm antibody hemolytic anemia semapv:MappingInversion -MONDO:0018922 cold agglutinin disease skos:exactMatch NANDO:1200307 Cold agglutinin disease semapv:MappingInversion -MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch NANDO:1200308 Paroxysmal cold hemoglobinuria semapv:MappingInversion -MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:exactMatch NANDO:1200309 Mixed-type autoimmune hemolytic anemia semapv:MappingInversion -MONDO:0016030 Evans syndrome skos:exactMatch NANDO:1200310 Evans syndrome semapv:MappingInversion -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:1200311 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion -MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch NANDO:1200315 Idiopathic thrombocytopenic purpura semapv:MappingInversion -MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200316 Thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200317 Congenital thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:exactMatch NANDO:1200319 Secondary thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0003778 inborn error of immunity skos:exactMatch NANDO:1200320 Primary immunodeficiency syndrome semapv:MappingInversion -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch NANDO:1200321 X-linked severe combined immunodeficiency semapv:MappingInversion -MONDO:0009973 reticular dysgenesis skos:exactMatch NANDO:1200322 Reticular dysgenesis semapv:MappingInversion -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch NANDO:1200323 Adenosine deaminase deficiency semapv:MappingInversion -MONDO:0011338 Omenn syndrome skos:exactMatch NANDO:1200324 Omenn syndrome semapv:MappingInversion -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NANDO:1200325 Purine nucleoside phosphorylase deficiency semapv:MappingInversion -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch NANDO:1200326 CD8 deficiency semapv:MappingInversion -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch NANDO:1200327 Zap-70 deficiency semapv:MappingInversion -MONDO:0011476 MHC class I deficiency skos:exactMatch NANDO:1200328 MHC class I deficiency semapv:MappingInversion -MONDO:0008855 MHC class II deficiency skos:exactMatch NANDO:1200329 MHC class II deficiency semapv:MappingInversion -MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch NANDO:1200330 Wiskott-Aldrich syndrome semapv:MappingInversion -MONDO:0008840 ataxia telangiectasia skos:exactMatch NANDO:1200331 Ataxia telangiectasia semapv:MappingInversion -MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch NANDO:1200332 Nijmegen breakage syndrome semapv:MappingInversion -MONDO:0008876 Bloom syndrome skos:exactMatch NANDO:1200333 Bloom syndrome semapv:MappingInversion -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch NANDO:1200334 ICF syndrome semapv:MappingInversion -MONDO:0012764 RIDDLE syndrome skos:exactMatch NANDO:1200336 RIDDLE syndrome semapv:MappingInversion -MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch NANDO:1200337 Schimke syndrome semapv:MappingInversion -MONDO:0009735 Netherton syndrome skos:exactMatch NANDO:1200338 Netherton syndrome semapv:MappingInversion -MONDO:0008564 DiGeorge syndrome skos:exactMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion -MONDO:0008644 velocardiofacial syndrome skos:exactMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion -MONDO:0018037 hyper-IgE syndrome skos:exactMatch NANDO:1200340 Hyper-IgE syndrome semapv:MappingInversion -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion -MONDO:0015780 dyskeratosis congenita skos:exactMatch NANDO:1200342 Dyskeratosis congenita semapv:MappingInversion -MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch NANDO:1200343 X-linked agammaglobulinemia semapv:MappingInversion -MONDO:0015517 common variable immunodeficiency skos:exactMatch NANDO:1200344 Common variable immunodeficiency semapv:MappingInversion -MONDO:0003947 hyper-IgM syndrome skos:exactMatch NANDO:1200345 Hyper-IgM syndrome semapv:MappingInversion -MONDO:0045045 selective IgG immunodeficiency skos:exactMatch NANDO:1200346 IgG subclass deficiency semapv:MappingInversion -MONDO:0001341 selective IgA deficiency disease skos:exactMatch NANDO:1200347 Selective IgA deficiency semapv:MappingInversion -MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion -MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NANDO:1200350 Chédiak-Higashi syndrome semapv:MappingInversion -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch NANDO:1200351 X-linked lymphoproliferative syndrome semapv:MappingInversion -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch NANDO:1200352 Autoimmune lymphoproliferative syndrome semapv:MappingInversion -MONDO:0018542 severe congenital neutropenia skos:exactMatch NANDO:1200353 Severe congenital neutropenia semapv:MappingInversion -MONDO:0008090 cyclic hematopoiesis skos:exactMatch NANDO:1200354 Cyclic neutropenia semapv:MappingInversion -MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch NANDO:1200355 Leukocyte adhesion deficiency semapv:MappingInversion -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch NANDO:1200356 Shwachman-Diamond syndrome semapv:MappingInversion -MONDO:0018305 chronic granulomatous disease skos:exactMatch NANDO:1200357 Chronic granulomatous disease semapv:MappingInversion -MONDO:0009694 myeloperoxidase deficiency skos:exactMatch NANDO:1200358 Myeloperoxidase deficiency semapv:MappingInversion -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch NANDO:1200359 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion -MONDO:0011888 immunodeficiency 67 skos:exactMatch NANDO:1200361 IRAK4 deficiency semapv:MappingInversion -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch NANDO:1200362 MyD88 deficiency semapv:MappingInversion -MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch NANDO:1200363 Chronic mucocutaneous candidiasis semapv:MappingInversion -MONDO:0003832 complement deficiency skos:exactMatch NANDO:1200364 Inherited deficiency of complement system semapv:MappingInversion -MONDO:0007361 C1 inhibitor deficiency skos:exactMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion -MONDO:0019623 hereditary angioedema skos:exactMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion -MONDO:0005342 IgA glomerulonephritis skos:exactMatch NANDO:1200366 IgA nephropathy semapv:MappingInversion -MONDO:0020642 polycystic kidney disease skos:exactMatch NANDO:1200367 Polycystic kidney disease semapv:MappingInversion -MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch NANDO:1200368 Autosomal dominant polycystic kidney disease semapv:MappingInversion -MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch NANDO:1200369 Autosomal recessive polycystic kidney disease semapv:MappingInversion -MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:exactMatch NANDO:1200371 Ossification of posterior longitudinal ligament semapv:MappingInversion -MONDO:0005965 spinal stenosis skos:exactMatch NANDO:1200372 Coexisting cervical and lumbar spinal stenosis semapv:MappingInversion -MONDO:0012126 familial avascular necrosis of femoral head skos:exactMatch NANDO:1200373 Idiopathic osteonecrosis of femoral head semapv:MappingInversion -MONDO:0015790 central diabetes insipidus skos:exactMatch NANDO:1200375 Central diabetes insipidus semapv:MappingInversion -MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion -MONDO:0019611 TSH-secreting pituitary adenoma skos:exactMatch NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome semapv:MappingInversion -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:exactMatch NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome semapv:MappingInversion -MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch NANDO:1200379 Cushing disease semapv:MappingInversion -MONDO:0019165 central precocious puberty skos:exactMatch NANDO:1200381 Central precocious puberty semapv:MappingInversion -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch NANDO:1200382 Idiopathic hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0015770 congenital hypogonadotropic hypogonadism skos:exactMatch NANDO:1200383 Congenital hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch NANDO:1200385 Growth hormone secreting pituitary adenoma semapv:MappingInversion -MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:exactMatch NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone semapv:MappingInversion -MONDO:0005152 hypopituitarism skos:exactMatch NANDO:1200387 Hypopituitarism syndrome semapv:MappingInversion -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NANDO:1200388 Hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0016410 central congenital hypothyroidism skos:exactMatch NANDO:1200390 Thyroid-stimulating hormone deficiency semapv:MappingInversion -MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch NANDO:1200394 Homozygous familial hypercholesterolemia semapv:MappingInversion -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:1200396 Congenital adrenal enzyme deficiency semapv:MappingInversion -MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:1200397 Congenital lipoid adrenal hyperplasia semapv:MappingInversion -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency semapv:MappingInversion -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch NANDO:1200399 21-Hydroxylase deficiency semapv:MappingInversion -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch NANDO:1200400 11-β-Hydroxylase deficiency semapv:MappingInversion -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch NANDO:1200401 17-α-Hydroxylase deficiency semapv:MappingInversion -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NANDO:1200402 P450 oxidoreductase deficiency semapv:MappingInversion -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion -MONDO:0010226 46,XY sex reversal 2 skos:exactMatch NANDO:1200404 DAX1 abnormality semapv:MappingInversion -MONDO:0013066 46,XY sex reversal 3 skos:exactMatch NANDO:1200405 SF-1 abnormality semapv:MappingInversion -MONDO:0013873 IMAGe syndrome skos:exactMatch NANDO:1200406 IMAge syndrome semapv:MappingInversion -MONDO:0024536 glucocorticoid deficiency 1 skos:exactMatch NANDO:1200408 MC2R deficiency semapv:MappingInversion -MONDO:0011826 glucocorticoid deficiency 2 skos:exactMatch NANDO:1200409 MRAP deficiency semapv:MappingInversion -MONDO:0009279 triple-A syndrome skos:exactMatch NANDO:1200410 Allgrove syndrome semapv:MappingInversion -MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:1200411 Addison's disease semapv:MappingInversion -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NANDO:1200411 Addison's disease semapv:MappingInversion -MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:1200412 Autoimmune Addison's disease semapv:MappingInversion -MONDO:0019338 sarcoidosis skos:exactMatch NANDO:1200415 Sarcoidosis semapv:MappingInversion -MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch NANDO:1200416 Idiopathic interstitial pneumonia semapv:MappingInversion -MONDO:0008345 obsolete idiopathic pulmonary fibrosis skos:exactMatch NANDO:1200417 Idiopathic pulmonary fibrosis semapv:MappingInversion -MONDO:0019622 non-specific interstitial pneumonia skos:exactMatch NANDO:1200419 Non-specific interstitial pneumonia semapv:MappingInversion -MONDO:0019203 acute interstitial pneumonia skos:exactMatch NANDO:1200420 Acute interstitial pneumonia semapv:MappingInversion -MONDO:0015264 cryptogenic organizing pneumonia skos:exactMatch NANDO:1200421 Cryptogenic organizing pneumonia semapv:MappingInversion -MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch NANDO:1200422 Desquamative interstitial pneumonia semapv:MappingInversion -MONDO:0009887 desquamative interstitial pneumonia skos:exactMatch NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease semapv:MappingInversion -MONDO:0009537 lymphoid interstitial pneumonia skos:exactMatch NANDO:1200424 Lymphoid interstitial pneumonia semapv:MappingInversion -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NANDO:1200425 Pulmonary arterial hypertension semapv:MappingInversion -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis semapv:MappingInversion -MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch NANDO:1200427 Pulmonary veno-occlusive disease semapv:MappingInversion -MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:exactMatch NANDO:1200428 Pulmonary capillary hemangiomatosis semapv:MappingInversion -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:exactMatch NANDO:1200429 Chronic thromboembolic pulmonary hypertension semapv:MappingInversion -MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch NANDO:1200430 Lymphangioleiomyomatosis semapv:MappingInversion -MONDO:0019200 retinitis pigmentosa skos:exactMatch NANDO:1200431 Retinitis pigmentosa semapv:MappingInversion -MONDO:0010947 Budd-Chiari syndrome skos:exactMatch NANDO:1200437 Budd-Chiari syndrome semapv:MappingInversion -MONDO:0021969 Banti syndrome skos:exactMatch NANDO:1200438 Idiopathic portal hypertension semapv:MappingInversion -MONDO:0005388 primary biliary cholangitis skos:exactMatch NANDO:1200439 Primary biliary cholangitis semapv:MappingInversion -MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion -MONDO:0018646 sclerosing cholangitis skos:exactMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion -MONDO:0016264 autoimmune hepatitis skos:exactMatch NANDO:1200441 Autoimmune hepatitis semapv:MappingInversion -MONDO:0016264 autoimmune hepatitis skos:exactMatch NANDO:1200442 Typical autoimmune hepatitis semapv:MappingInversion -MONDO:0005011 Crohn disease skos:exactMatch NANDO:1200444 Crohn's disease semapv:MappingInversion -MONDO:0005539 small bowel Crohn disease skos:exactMatch NANDO:1200445 small bowel Crohn disease semapv:MappingInversion -MONDO:0005011 Crohn disease skos:exactMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion -MONDO:0005532 Crohn's colitis skos:exactMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion -MONDO:0005534 ileocolitis skos:exactMatch NANDO:1200447 Crohn ileocolitis semapv:MappingInversion -MONDO:0005101 ulcerative colitis skos:exactMatch NANDO:1200449 Ulcerative colitis semapv:MappingInversion -MONDO:0005536 pancolitis skos:exactMatch NANDO:1200450 Pan-ulcerative colitis semapv:MappingInversion -MONDO:0005533 distal colitis skos:exactMatch NANDO:1200451 Left-sided colitis semapv:MappingInversion -MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch NANDO:1200454 Eosinophilic gastrointestinal disorders semapv:MappingInversion -MONDO:0005361 eosinophilic esophagitis skos:exactMatch NANDO:1200456 Eosinophilic esophagitis semapv:MappingInversion -MONDO:0016129 eosinophilic gastroenteritis skos:exactMatch NANDO:1200457 Eosinophilic gastroenteritis semapv:MappingInversion -MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion -MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion -MONDO:0008738 aganglionosis, total intestinal skos:exactMatch NANDO:1200460 Congenital isolated hypoganglionosis semapv:MappingInversion -MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch NANDO:1200461 Rubinstein-Taybi syndrome semapv:MappingInversion -MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch NANDO:1200462 CFC Syndrome semapv:MappingInversion -MONDO:0009026 Costello syndrome skos:exactMatch NANDO:1200463 Costello syndrome semapv:MappingInversion -MONDO:0008965 CHARGE syndrome skos:exactMatch NANDO:1200464 CHARGE syndrome semapv:MappingInversion -MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch NANDO:1200465 Cryopyrin-associated periodic syndrome semapv:MappingInversion -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:1200466 Familial cold autoinflammatorysyndrome semapv:MappingInversion -MONDO:0008633 Muckle-Wells syndrome skos:exactMatch NANDO:1200467 Muckle-Wells syndrome semapv:MappingInversion -MONDO:0011776 CINCA syndrome skos:exactMatch NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion -MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NANDO:1200469 Juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NANDO:1200470 Systemic juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch NANDO:1200471 Articular-type juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch NANDO:1200472 TNF receptor-associated periodic fever syndrome semapv:MappingInversion -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:1200473 Atypical hemolytic uremic syndrome semapv:MappingInversion -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:1200474 Congenital atypical hemolytic uremic syndrome semapv:MappingInversion -MONDO:0008523 Blau syndrome skos:exactMatch NANDO:1200476 Blau syndrome semapv:MappingInversion -MONDO:0019952 congenital myopathy skos:exactMatch NANDO:1200477 Congenital myopathy semapv:MappingInversion -MONDO:0018958 nemaline myopathy skos:exactMatch NANDO:1200478 Nemaline myopathy semapv:MappingInversion -MONDO:0007294 central core myopathy skos:exactMatch NANDO:1200479 Central core disease semapv:MappingInversion -MONDO:0018948 multiminicore myopathy skos:exactMatch NANDO:1200480 Minicore myopathy semapv:MappingInversion -MONDO:0018947 centronuclear myopathy skos:exactMatch NANDO:1200481 Myotubular myopathy semapv:MappingInversion -MONDO:0002921 congenital structural myopathy skos:exactMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion -MONDO:0018947 centronuclear myopathy skos:exactMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion -MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch NANDO:1200483 Congenital fiber-type disproportion myopathy semapv:MappingInversion -MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch NANDO:1200485 Marinesco-Sjogren syndrome semapv:MappingInversion -MONDO:0020121 muscular dystrophy skos:exactMatch NANDO:1200486 Muscular dystrophy semapv:MappingInversion -MONDO:0016147 qualitative or quantitative defects of dystrophin skos:exactMatch NANDO:1200487 Dystrophinopathies semapv:MappingInversion -MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch NANDO:1200488 Duchenne muscular dystrophy semapv:MappingInversion -MONDO:0010311 Becker muscular dystrophy skos:exactMatch NANDO:1200489 Becker muscular dystrophy semapv:MappingInversion -MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch NANDO:1200490 Limb-girdle muscular dystrophy semapv:MappingInversion -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch NANDO:1200491 Facioscapulohumeral muscular dystrophy semapv:MappingInversion -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch NANDO:1200492 Emery-Dreifuss muscular dystrophy semapv:MappingInversion -MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch NANDO:1200493 Oculopharyngeal muscular dystrophy semapv:MappingInversion -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch NANDO:1200494 Fukuyama type congenital muscular dystrophy semapv:MappingInversion -MONDO:0016107 myotonic dystrophy skos:exactMatch NANDO:1200495 Myotonic dystrophy semapv:MappingInversion -MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch NANDO:1200496 Non-dystrophic myotonia semapv:MappingInversion -MONDO:0009710 Thomsen and Becker disease skos:exactMatch NANDO:1200497 Myotonia congenita semapv:MappingInversion -MONDO:0009710 Thomsen and Becker disease skos:exactMatch NANDO:1200498 Thomsen disease semapv:MappingInversion -MONDO:0009715 myotonia congenita, autosomal recessive skos:exactMatch NANDO:1200499 Becker disease semapv:MappingInversion -MONDO:0018959 potassium-aggravated myotonia skos:exactMatch NANDO:1200500 Sodium channel myotonia semapv:MappingInversion -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch NANDO:1200501 Paramyotonia congenita semapv:MappingInversion -MONDO:0000995 familial periodic paralysis skos:exactMatch NANDO:1200502 Hereditary periodic paralysis semapv:MappingInversion -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch NANDO:1200503 Hereditary hypokalemic periodic paralysis semapv:MappingInversion -MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch NANDO:1200504 Hereditary hyperkalemic periodic paralysis semapv:MappingInversion -MONDO:0017987 syringomyelia skos:exactMatch NANDO:1200506 Syringomyelia semapv:MappingInversion -MONDO:0017987 syringomyelia skos:exactMatch NANDO:1200507 Symptomatic syringomyelia semapv:MappingInversion -MONDO:0017069 spina bifida cystica skos:exactMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion -MONDO:0019773 myelomeningocele skos:exactMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion -MONDO:0019399 Isaac syndrome skos:exactMatch NANDO:1200510 Isaacs syndrome semapv:MappingInversion -MONDO:0044807 inherited dystonia skos:exactMatch NANDO:1200511 Hereditary dystonia semapv:MappingInversion -MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion -MONDO:0044808 obsolete early onset primary dystonia skos:exactMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion -MONDO:0009141 torsion dystonia 2 skos:exactMatch NANDO:1200513 Dystonia 2 semapv:MappingInversion -MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch NANDO:1200514 Dystonia 3 semapv:MappingInversion -MONDO:0007493 torsion dystonia 4 skos:exactMatch NANDO:1200515 Dystonia 4 semapv:MappingInversion -MONDO:0007495 dystonia 5 skos:exactMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion -MONDO:0016812 dopa-responsive dystonia skos:exactMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion -MONDO:0011264 torsion dystonia 6 skos:exactMatch NANDO:1200517 Dystonia 6 semapv:MappingInversion -MONDO:0011200 torsion dystonia 7 skos:exactMatch NANDO:1200518 Dystonia 7 semapv:MappingInversion -MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch NANDO:1200519 Dystonia 8 semapv:MappingInversion -MONDO:0010983 dystonia 9 skos:exactMatch NANDO:1200520 Dystonia 9 semapv:MappingInversion -MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 skos:exactMatch NANDO:1200521 Dystonia 10 semapv:MappingInversion -MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch NANDO:1200522 Dystonia 11 semapv:MappingInversion -MONDO:0007496 dystonia 12 skos:exactMatch NANDO:1200523 Dystonia 12 semapv:MappingInversion -MONDO:0007496 dystonia 12 skos:exactMatch NANDO:1200524 Rapid-onset dystonia-parkinsonism semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:1200525 Alternating hemiplegia of childhood semapv:MappingInversion -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:exactMatch NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss semapv:MappingInversion -MONDO:0011886 torsion dystonia 13 skos:exactMatch NANDO:1200527 Dystonia 13 semapv:MappingInversion -MONDO:0011844 myoclonic dystonia 15 skos:exactMatch NANDO:1200528 Dystonia 15 semapv:MappingInversion -MONDO:0012789 dystonia 16 skos:exactMatch NANDO:1200529 Dystonia 16 semapv:MappingInversion -MONDO:0012895 torsion dystonia 17 skos:exactMatch NANDO:1200530 Dystonia 17 semapv:MappingInversion -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch NANDO:1200531 Dystonia 18 semapv:MappingInversion -MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:exactMatch NANDO:1200532 Dystonia 19 semapv:MappingInversion -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch NANDO:1200533 Dystonia 20 semapv:MappingInversion -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 semapv:MappingInversion -MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration semapv:MappingInversion -MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration semapv:MappingInversion -MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:exactMatch NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A semapv:MappingInversion -MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:exactMatch NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B semapv:MappingInversion -MONDO:0011638 neuroferritinopathy skos:exactMatch NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 semapv:MappingInversion -MONDO:0011426 aceruloplasminemia skos:exactMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:exactMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion -MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion -MONDO:0011638 neuroferritinopathy skos:exactMatch NANDO:1200542 Neuroferritinopathy semapv:MappingInversion -MONDO:0016594 superficial siderosis skos:exactMatch NANDO:1200543 Superficial siderosis semapv:MappingInversion -MONDO:0010829 CARASIL syndrome skos:exactMatch NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy semapv:MappingInversion -MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy semapv:MappingInversion -MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:exactMatch NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid semapv:MappingInversion -MONDO:0008201 Perry syndrome skos:exactMatch NANDO:1200547 Perry syndrome semapv:MappingInversion -MONDO:0017276 frontotemporal dementia skos:exactMatch NANDO:1200548 Frontotemporal lobar degeneration semapv:MappingInversion -MONDO:0017160 behavioral variant of frontotemporal dementia skos:exactMatch NANDO:1200549 Behavioral variant frontotemporal dementia semapv:MappingInversion -MONDO:0010857 semantic dementia skos:exactMatch NANDO:1200550 Semantic dementia semapv:MappingInversion -MONDO:0019208 Bickerstaff brainstem encephalitis skos:exactMatch NANDO:1200551 Bickerstaff's brainstem encephalitis semapv:MappingInversion -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch NANDO:1200553 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion -MONDO:0008752 Alexander disease skos:exactMatch NANDO:1200554 Alexander disease semapv:MappingInversion -MONDO:0018209 Alexander disease type I skos:exactMatch NANDO:1200555 Alexander disease type I semapv:MappingInversion -MONDO:0018210 Alexander disease type II skos:exactMatch NANDO:1200556 Alexander disease type II semapv:MappingInversion -MONDO:0008503 Worster-Drought syndrome skos:exactMatch NANDO:1200558 Congenital suprabulbar paresis semapv:MappingInversion -MONDO:0008006 Mobius syndrome skos:exactMatch NANDO:1200559 Moebius syndrome semapv:MappingInversion -MONDO:0008428 septooptic dysplasia skos:exactMatch NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome semapv:MappingInversion -MONDO:0008428 septooptic dysplasia skos:exactMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion -MONDO:0019029 segmental odontomaxillary dysplasia skos:exactMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion -MONDO:0010568 Aicardi syndrome skos:exactMatch NANDO:1200562 Aicardi syndrome semapv:MappingInversion -MONDO:0020492 hemimegalencephaly skos:exactMatch NANDO:1200563 Hemimegalencephaly semapv:MappingInversion -MONDO:0019009 isolated focal cortical dysplasia skos:exactMatch NANDO:1200564 Focal cortical dysplasia semapv:MappingInversion -MONDO:0017096 isolated focal cortical dysplasia type Ia skos:exactMatch NANDO:1200565 Focal cortical dysplasia type 1a semapv:MappingInversion -MONDO:0017097 isolated focal cortical dysplasia type Ib skos:exactMatch NANDO:1200566 Focal cortical dysplasia type 1b semapv:MappingInversion -MONDO:0017098 isolated focal cortical dysplasia type Ic skos:exactMatch NANDO:1200567 Focal cortical dysplasia type 1c semapv:MappingInversion -MONDO:0017101 isolated focal cortical dysplasia type IIa skos:exactMatch NANDO:1200568 Focal cortical dysplasia type 2a semapv:MappingInversion -MONDO:0017102 isolated focal cortical dysplasia type IIb skos:exactMatch NANDO:1200569 Focal cortical dysplasia type 2b semapv:MappingInversion -MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch NANDO:1200574 Neuronal migration defects semapv:MappingInversion -MONDO:0019046 leukodystrophy skos:exactMatch NANDO:1200575 Congenital hypomyelinating leukodystrophy semapv:MappingInversion -MONDO:0010714 Pelizaeus-Merzbacher disease skos:exactMatch NANDO:1200576 Pelizaeus-Merzbacher disease semapv:MappingInversion -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch NANDO:1200577 Pelizaeus-Merzbacher like disease semapv:MappingInversion -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch NANDO:1200579 18q-syndrome semapv:MappingInversion -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch NANDO:1200580 Allan-Herndon-Dudley syndrome semapv:MappingInversion -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch NANDO:1200581 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion -MONDO:0011449 Salla disease skos:exactMatch NANDO:1200582 Salla disease semapv:MappingInversion -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch NANDO:1200584 Hypomyelination and congenital cataract semapv:MappingInversion -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion -MONDO:0012198 PCWH syndrome skos:exactMatch NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion -MONDO:0100135 Dravet syndrome skos:exactMatch NANDO:1200587 Dravet syndrome semapv:MappingInversion -MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:exactMatch NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis semapv:MappingInversion -MONDO:0019487 epilepsy with myoclonic absences skos:exactMatch NANDO:1200589 Myoclonic absence epilepsy semapv:MappingInversion -MONDO:0016025 myoclonic-astatic epilepsy skos:exactMatch NANDO:1200590 Epilepsy with myoclonic atonic seizures semapv:MappingInversion -MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch NANDO:1200591 Lennox-Gastaut syndrome semapv:MappingInversion -MONDO:0018097 West syndrome skos:exactMatch NANDO:1200592 West syndrome semapv:MappingInversion -MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NANDO:1200593 Ohtahara syndrome semapv:MappingInversion -MONDO:0016022 early myoclonic encephalopathy skos:exactMatch NANDO:1200594 Early myoclonic encephalopathy semapv:MappingInversion -MONDO:0017385 malignant migrating partial seizures of infancy skos:exactMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion -MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion -MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:exactMatch NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome semapv:MappingInversion -MONDO:0015436 ring chromosome 20 skos:exactMatch NANDO:1200597 Ring chromosome 20 syndrome semapv:MappingInversion -MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NANDO:1200598 Rasmussen's encephalitis semapv:MappingInversion -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch NANDO:1200599 PCDH19-related syndrome semapv:MappingInversion -MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion -MONDO:0019123 continuous spikes and waves during sleep skos:exactMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion -MONDO:0022858 continuous spike-wave during slow sleep syndrome skos:exactMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion -MONDO:0009509 Landau-Kleffner syndrome skos:exactMatch NANDO:1200602 Landau-Kleffner syndrome semapv:MappingInversion -MONDO:0010726 Rett syndrome skos:exactMatch NANDO:1200603 Rett syndrome semapv:MappingInversion -MONDO:0010726 Rett syndrome skos:exactMatch NANDO:1200604 Typical Rett syndrome semapv:MappingInversion -MONDO:0017746 atypical Rett syndrome skos:exactMatch NANDO:1200605 Atypical Rett syndrome semapv:MappingInversion -MONDO:0008501 Sturge-Weber syndrome skos:exactMatch NANDO:1200606 Sturge-Weber syndrome semapv:MappingInversion -MONDO:0001734 tuberous sclerosis skos:exactMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion -MONDO:0019341 obsolete tuberous sclerosis complex skos:exactMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion -MONDO:0019600 xeroderma pigmentosum skos:exactMatch NANDO:1200608 Xeroderma pigmentosum semapv:MappingInversion -MONDO:0015947 inherited ichthyosis skos:exactMatch NANDO:1200609 Congenital ichthyosis semapv:MappingInversion -MONDO:0017266 keratinopathic ichthyosis skos:exactMatch NANDO:1200610 Keratinopathic ichthyosis semapv:MappingInversion -MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch NANDO:1200611 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch NANDO:1200612 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion -MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch NANDO:1200613 Superficial epidermolytic ichthyosis semapv:MappingInversion -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch NANDO:1200614 Harlequin ichthyosis semapv:MappingInversion -MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis semapv:MappingInversion -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch NANDO:1200616 Congenital ichthyosiform erythroderma semapv:MappingInversion -MONDO:0017778 lamellar ichthyosis skos:exactMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion -MONDO:0019269 ichthyosis skos:exactMatch NANDO:1200618 Ichthyosis syndrome semapv:MappingInversion -MONDO:0009735 Netherton syndrome skos:exactMatch NANDO:1200619 Netherton syndrome semapv:MappingInversion -MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch NANDO:1200620 Sjögren-Larsson syndrome semapv:MappingInversion -MONDO:0018781 KID syndrome skos:exactMatch NANDO:1200621 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion -MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion -MONDO:0015611 neutral lipid storage disease skos:exactMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion -MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch NANDO:1200623 Neutral lipid storage disease with ichthyosis semapv:MappingInversion -MONDO:0010088 mucosulfatidosis skos:exactMatch NANDO:1200624 Multiple sulfatase deficiency semapv:MappingInversion -MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch NANDO:1200625 Recessive X-linked ichtyosis semapv:MappingInversion -MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature semapv:MappingInversion -MONDO:0018053 trichothiodystrophy skos:exactMatch NANDO:1200627 Trichothiodystrophy semapv:MappingInversion -MONDO:0043094 ichthyosis, follicular skos:exactMatch NANDO:1200628 Ichthyosis follicularis semapv:MappingInversion -MONDO:0010621 CHILD syndrome skos:exactMatch NANDO:1200629 CHILD syndrome semapv:MappingInversion -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch NANDO:1200630 Conradi Hünermann Happle syndrome semapv:MappingInversion -MONDO:0008218 Hailey-Hailey disease skos:exactMatch NANDO:1200631 Benign familial pemphigus semapv:MappingInversion -MONDO:0019082 bullous pemphigoid skos:exactMatch NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) semapv:MappingInversion -MONDO:0019082 bullous pemphigoid skos:exactMatch NANDO:1200633 Bullous pemphigoid semapv:MappingInversion -MONDO:0018746 mucous membrane pemphigoid skos:exactMatch NANDO:1200634 Mucous membrane pemphigoid semapv:MappingInversion -MONDO:0018747 acquired epidermolysis bullosa skos:exactMatch NANDO:1200635 Epidermolysis bullosa acquisita semapv:MappingInversion -MONDO:0018910 oculocutaneous albinism skos:exactMatch NANDO:1200637 Oculocutaneous albinism semapv:MappingInversion -MONDO:0019312 Hermansky-Pudlak syndrome skos:exactMatch NANDO:1200638 Hermansky-Pudlak syndrome semapv:MappingInversion -MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NANDO:1200639 Chédiak-Higashi syndrome semapv:MappingInversion -MONDO:0018306 Griscelli syndrome skos:exactMatch NANDO:1200640 Griscelli syndrome semapv:MappingInversion -MONDO:0018910 oculocutaneous albinism skos:exactMatch NANDO:1200641 Non-syndromic oculocutaneous albinism semapv:MappingInversion -MONDO:0009799 obsolete pachydermoperiostosis skos:exactMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch NANDO:1200643 Pseudoxanthoma elasticum semapv:MappingInversion -MONDO:0007947 Marfan syndrome skos:exactMatch NANDO:1200644 Marfan syndrome semapv:MappingInversion -MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch NANDO:1200645 Ehlers-Danlos Syndrome semapv:MappingInversion -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch NANDO:1200646 Ehlers-Danlos syndrome, classical type semapv:MappingInversion -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch NANDO:1200648 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion -MONDO:0010651 Menkes disease skos:exactMatch NANDO:1200653 Menkes disease semapv:MappingInversion -MONDO:0010572 occipital horn syndrome skos:exactMatch NANDO:1200654 Occipital horn syndrome semapv:MappingInversion -MONDO:0010200 Wilson disease skos:exactMatch NANDO:1200655 Wilson disease semapv:MappingInversion -MONDO:0018570 hypophosphatasia skos:exactMatch NANDO:1200656 Hypophosphatasia semapv:MappingInversion -MONDO:0008642 VACTERL/vater association skos:exactMatch NANDO:1200657 VATER syndrome semapv:MappingInversion -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch NANDO:1200658 Nasu-Hakola disease semapv:MappingInversion -MONDO:0010193 Weaver syndrome skos:exactMatch NANDO:1200659 Weaver syndrome semapv:MappingInversion -MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch NANDO:1200660 Coffin-Lowry syndrome semapv:MappingInversion -MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch NANDO:1200661 Joubert syndrome and related disorders semapv:MappingInversion -MONDO:0009480 Joubert syndrome with oculorenal defect skos:exactMatch NANDO:1200662 Arima syndrome semapv:MappingInversion -MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch NANDO:1200663 Mowat-Wilson syndrome semapv:MappingInversion -MONDO:0008678 Williams syndrome skos:exactMatch NANDO:1200664 Williams syndrome semapv:MappingInversion -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NANDO:1200665 ATR-X syndrome semapv:MappingInversion -MONDO:0007405 Crouzon syndrome skos:exactMatch NANDO:1200666 Crouzon's syndrome semapv:MappingInversion -MONDO:0007041 Apert syndrome skos:exactMatch NANDO:1200667 Apert syndrome semapv:MappingInversion -MONDO:0005810 infectious mononucleosis skos:exactMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion -MONDO:0007043 Pfeiffer syndrome skos:exactMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion -MONDO:0008803 Antley-Bixler syndrome skos:exactMatch NANDO:1200669 Antley-Bixler syndrome semapv:MappingInversion -MONDO:0015452 Coffin-Siris syndrome skos:exactMatch NANDO:1200670 Coffin-Siris syndrome semapv:MappingInversion -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch NANDO:1200671 Rothmund-Thomson syndrome semapv:MappingInversion -MONDO:0016512 Kabuki syndrome skos:exactMatch NANDO:1200672 Kabuki syndrome semapv:MappingInversion -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion -MONDO:0018878 branchiootic syndrome skos:exactMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion -MONDO:0010196 Werner syndrome skos:exactMatch NANDO:1200676 Werner syndrome semapv:MappingInversion -MONDO:0016006 Cockayne syndrome skos:exactMatch NANDO:1200677 Cockayne syndrome semapv:MappingInversion -MONDO:0008300 Prader-Willi syndrome skos:exactMatch NANDO:1200678 Prader-Willi syndrome semapv:MappingInversion -MONDO:0019349 Sotos syndrome skos:exactMatch NANDO:1200679 Sotos syndrome semapv:MappingInversion -MONDO:0018997 Noonan syndrome skos:exactMatch NANDO:1200680 Noonan syndrome semapv:MappingInversion -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch NANDO:1200681 Young-Simpson syndrome semapv:MappingInversion -MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch NANDO:1200682 1p36 deletion syndrome semapv:MappingInversion -MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch NANDO:1200683 4p deletion syndrome semapv:MappingInversion -MONDO:0007404 Cri-du-chat syndrome skos:exactMatch NANDO:1200684 5p deletion syndrome semapv:MappingInversion -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:exactMatch NANDO:1200685 Paternal uniparental disomy of chromosome 14 semapv:MappingInversion -MONDO:0007113 Angelman syndrome skos:exactMatch NANDO:1200686 Angelman syndrome semapv:MappingInversion -MONDO:0008434 Smith-Magenis syndrome skos:exactMatch NANDO:1200687 Smith-Magenis syndrome semapv:MappingInversion -MONDO:0008564 DiGeorge syndrome skos:exactMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion -MONDO:0008644 velocardiofacial syndrome skos:exactMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion -MONDO:0012176 Emanuel syndrome skos:exactMatch NANDO:1200689 Emanuel syndrome semapv:MappingInversion -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch NANDO:1200690 Fragile X syndrome related diseases semapv:MappingInversion -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch NANDO:1200691 Fragile X tremor/ataxia syndrome semapv:MappingInversion -MONDO:0010383 fragile X syndrome skos:exactMatch NANDO:1200692 Fragile X syndrome semapv:MappingInversion -MONDO:0018072 persistent truncus arteriosus skos:exactMatch NANDO:1200693 Truncus arteriosus communis semapv:MappingInversion -MONDO:0019443 dextro-looped transposition of the great arteries skos:exactMatch NANDO:1200698 Corrected transposition of great arteries semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:1200699 Complete transposition of the great arteries semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion -MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:exactMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion -MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:exactMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion -MONDO:0015451 univentricular heart skos:exactMatch NANDO:1200704 Single ventricle semapv:MappingInversion -MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NANDO:1200705 Hypoplastic left heart syndrome semapv:MappingInversion -MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:1200706 Tricuspid atresia semapv:MappingInversion -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch NANDO:1200707 Pulmonary atresia with intact ventricular septum semapv:MappingInversion -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch NANDO:1200708 Pulmonary atresia with ventricular septal defect semapv:MappingInversion -MONDO:0008542 tetralogy of fallot skos:exactMatch NANDO:1200709 Tetralogy of Fallot semapv:MappingInversion -MONDO:0018089 double outlet right ventricle skos:exactMatch NANDO:1200710 Double outlet right ventricle semapv:MappingInversion -MONDO:0009144 Ebstein anomaly skos:exactMatch NANDO:1200711 Ebstein's anomaly semapv:MappingInversion -MONDO:0018965 Alport syndrome skos:exactMatch NANDO:1200712 Alport's syndrome semapv:MappingInversion -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NANDO:1200713 Galloway-Mowat syndrome semapv:MappingInversion -MONDO:0001645 crescentic glomerulonephritis skos:exactMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion -MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion -MONDO:0003136 anti-basement membrane glomerulonephritis skos:exactMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion -MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion -MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NANDO:1200718 Goodpasture syndrome semapv:MappingInversion -MONDO:0018170 idiopathic nephrotic syndrome skos:exactMatch NANDO:1200719 Primary nephrotic syndrome semapv:MappingInversion -MONDO:0006835 lipoid nephrosis skos:exactMatch NANDO:1200720 Minimal change nephrotic syndrome semapv:MappingInversion -MONDO:0005376 membranous glomerulonephritis skos:exactMatch NANDO:1200721 Membranous nephropathy semapv:MappingInversion -MONDO:0005363 inherited focal segmental glomerulosclerosis skos:exactMatch NANDO:1200722 Focal segmental glomerulosclerosis semapv:MappingInversion -MONDO:0001645 crescentic glomerulonephritis skos:exactMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion -MONDO:0017236 rapidly progressive glomerulonephritis skos:exactMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:exactMatch NANDO:1200725 Primary membranoproliferative glomerulonephritis semapv:MappingInversion -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:exactMatch NANDO:1200726 Primary membranoproliferative glomerulonephritis type I semapv:MappingInversion -MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I semapv:MappingInversion -MONDO:0019736 dense deposit disease skos:exactMatch NANDO:1200739 Primary membranoproliferative glomerulonephritis type II semapv:MappingInversion -MONDO:0006785 obsolete Henoch-Schoenlein purpura skos:exactMatch NANDO:1200741 Henoch-Schonlein purpura nephritis semapv:MappingInversion -MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch NANDO:1200742 Congenital nephrogenic diabetes insipidus semapv:MappingInversion -MONDO:0018301 interstitial cystitis skos:exactMatch NANDO:1200743 Interstitial cystitis (Hunner type) semapv:MappingInversion -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NANDO:1200744 Osler disease semapv:MappingInversion -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NANDO:1200745 Bronchiolitis obliterans semapv:MappingInversion -MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch NANDO:1200747 Autoimmune pulmonary alveolar proteinosis semapv:MappingInversion -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:exactMatch NANDO:1200748 Idiopathic pulmonary alveolar proteinosis semapv:MappingInversion -MONDO:0018483 secondary pulmonary alveolar proteinosis skos:exactMatch NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis semapv:MappingInversion -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch NANDO:1200750 Congenital alveolar proteinosis semapv:MappingInversion -MONDO:0008346 pulmonary hemosiderosis skos:exactMatch NANDO:1200751 Alveolar hypoventilation syndrome semapv:MappingInversion -MONDO:0009763 obesity-hypoventilation syndrome skos:exactMatch NANDO:1200752 Obesity hypoventilation syndrome semapv:MappingInversion -MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:exactMatch NANDO:1200753 Congenital central hypoventilation syndrome semapv:MappingInversion -MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NANDO:1200755 Alpha-1-antitrypsin deficiency semapv:MappingInversion -MONDO:0015285 Carney complex skos:exactMatch NANDO:1200756 Carney complex semapv:MappingInversion -MONDO:0018105 Wolfram syndrome skos:exactMatch NANDO:1200757 Wolfram syndrome semapv:MappingInversion -MONDO:0019053 peroxisomal disease skos:exactMatch NANDO:1200758 Peroxisomal disorder semapv:MappingInversion -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NANDO:1200759 Peroxisome biogenesis disorders semapv:MappingInversion -MONDO:0019609 Zellweger spectrum disorders skos:exactMatch NANDO:1200760 Zellweger syndrome semapv:MappingInversion -MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:exactMatch NANDO:1200761 Neonatal adrenoleukodystrophy semapv:MappingInversion -MONDO:0019174 obsolete infantile Refsum disease skos:exactMatch NANDO:1200762 Infantile Refsum disease semapv:MappingInversion -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 semapv:MappingInversion -MONDO:0019233 disorder of peroxisomal beta oxidation skos:exactMatch NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency semapv:MappingInversion -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency semapv:MappingInversion -MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch NANDO:1200766 D-bifunctional protein deficiency semapv:MappingInversion -MONDO:0013391 sterol carrier protein 2 deficiency skos:exactMatch NANDO:1200767 Sterol carrier protein 2 deficiency semapv:MappingInversion -MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:exactMatch NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency semapv:MappingInversion -MONDO:0009958 adult Refsum disease skos:exactMatch NANDO:1200769 Refsum disease semapv:MappingInversion -MONDO:0017986 disorder of plasmalogens biosynthesis skos:exactMatch NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency semapv:MappingInversion -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 semapv:MappingInversion -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 semapv:MappingInversion -MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch NANDO:1200773 Primary hyperoxaluria type 1 semapv:MappingInversion -MONDO:0013571 acatalasia skos:exactMatch NANDO:1200774 Acatalasemia semapv:MappingInversion -MONDO:0001220 hypoparathyroidism skos:exactMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion -MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion -MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NANDO:1200776 Pseudohypoparathyroidism semapv:MappingInversion -MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia semapv:MappingInversion -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion -MONDO:0010931 vitamin D-dependent rickets, type 2B skos:exactMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion -MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:1200780 Vitamin D-resistant osteomalacia semapv:MappingInversion -MONDO:0024299 vitamin D-dependent rickets skos:exactMatch NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia semapv:MappingInversion -MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch NANDO:1200782 Vitamin D-dependent rickets, type 1 semapv:MappingInversion -MONDO:0019642 vitamin D-dependent rickets, type 2 skos:exactMatch NANDO:1200783 Vitamin D-dependent rickets, type 2 semapv:MappingInversion -MONDO:0009861 phenylketonuria skos:exactMatch NANDO:1200784 Phenylketonuria semapv:MappingInversion -MONDO:0009861 phenylketonuria skos:exactMatch NANDO:1200785 Phenylalanine hydroxylase deficiency semapv:MappingInversion -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch NANDO:1200786 Tetrahydrobiopterin deficiency semapv:MappingInversion -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia semapv:MappingInversion -MONDO:0010161 tyrosinemia type I skos:exactMatch NANDO:1200788 Tyrosinemia type 1 semapv:MappingInversion -MONDO:0010160 tyrosinemia type II skos:exactMatch NANDO:1200789 Tyrosinemia type 2 semapv:MappingInversion -MONDO:0010162 tyrosinemia type III skos:exactMatch NANDO:1200790 Tyrosinemia type 3 semapv:MappingInversion -MONDO:0009563 maple syrup urine disease skos:exactMatch NANDO:1200791 Maple syrup urine disease semapv:MappingInversion -MONDO:0011628 propionic acidemia skos:exactMatch NANDO:1200792 Propionic acidemia semapv:MappingInversion -MONDO:0002012 methylmalonic acidemia skos:exactMatch NANDO:1200793 Methylmalonic acidemia semapv:MappingInversion -MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency semapv:MappingInversion -MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch NANDO:1200795 Methylmalonic acidemia cblA type semapv:MappingInversion -MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch NANDO:1200796 Methylmalonic acidemia cblB type semapv:MappingInversion -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch NANDO:1200797 Methylmalonic acidemia CblD type semapv:MappingInversion -MONDO:0009475 isovaleric acidemia skos:exactMatch NANDO:1200798 Isovaleric acidemia semapv:MappingInversion -MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch NANDO:1200800 Glutaric acidemia type 1 semapv:MappingInversion -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:1200801 Glutaric acidemia type 2 semapv:MappingInversion -MONDO:0004739 urea cycle disorder skos:exactMatch NANDO:1200802 Urea cycle disorder semapv:MappingInversion -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch NANDO:1200803 Carbamoyl phosphate synthetase I deficiency semapv:MappingInversion -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch NANDO:1200804 Ornithine transcarbamylase deficiency semapv:MappingInversion -MONDO:0008988 citrullinemia type I skos:exactMatch NANDO:1200805 Classic citrullinemia semapv:MappingInversion -MONDO:0008815 argininosuccinic aciduria skos:exactMatch NANDO:1200806 Argininosuccinic aciduria semapv:MappingInversion -MONDO:0008814 hyperargininemia skos:exactMatch NANDO:1200807 Argininemia semapv:MappingInversion -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NANDO:1200808 NAGS deficiency semapv:MappingInversion -MONDO:0009109 lysinuric protein intolerance skos:exactMatch NANDO:1200809 Lysinuric protein intolerance semapv:MappingInversion -MONDO:0009238 hereditary folate malabsorption skos:exactMatch NANDO:1200810 Hereditary folate malabsorption semapv:MappingInversion -MONDO:0037939 porphyria skos:exactMatch NANDO:1200811 Porphyria semapv:MappingInversion -MONDO:0008294 acute intermittent porphyria skos:exactMatch NANDO:1200812 Acute intermittent porphyria semapv:MappingInversion -MONDO:0007369 hereditary coproporphyria skos:exactMatch NANDO:1200813 Hereditary coproporphyria semapv:MappingInversion -MONDO:0008297 variegate porphyria skos:exactMatch NANDO:1200814 Variegate porphyria semapv:MappingInversion -MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0019263 autosomal erythropoietic protoporphyria skos:exactMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0015104 porphyria cutanea tarda skos:exactMatch NANDO:1200816 Porphyria cutanea tarda semapv:MappingInversion -MONDO:0009902 cutaneous porphyria skos:exactMatch NANDO:1200817 Congenital erythropoietic porphyria semapv:MappingInversion -MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch NANDO:1200818 X-linked dominant protoporphyria semapv:MappingInversion -MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch NANDO:1200819 Hepatoerythropoietic porphyria semapv:MappingInversion -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch NANDO:1200820 Multiple carboxylase deficiency semapv:MappingInversion -MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch NANDO:1200821 Holocarboxylase synthetase deficiency semapv:MappingInversion -MONDO:0009665 biotinidase deficiency skos:exactMatch NANDO:1200822 Biotinidase deficiency semapv:MappingInversion -MONDO:0009295 glycogen storage disease VII skos:exactMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion -MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion -MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency skos:exactMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion -MONDO:0009290 glycogen storage disease II skos:exactMatch NANDO:1200825 Glycogen storage diseases type II semapv:MappingInversion -MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:1200826 Glycogen storage diseases type III semapv:MappingInversion -MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion -MONDO:0009293 glycogen storage disease V skos:exactMatch NANDO:1200828 Glycogen storage diseases type V semapv:MappingInversion -MONDO:0009295 glycogen storage disease VII skos:exactMatch NANDO:1200829 Glycogen storage diseases type VII semapv:MappingInversion -MONDO:0010362 glycogen storage disease IXd skos:exactMatch NANDO:1200830 Glycogen storage diseases type IXd semapv:MappingInversion -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch NANDO:1200831 Phosphoglycerate kinase deficiency semapv:MappingInversion -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:exactMatch NANDO:1200832 Glycogen storage diseases type X semapv:MappingInversion -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:exactMatch NANDO:1200833 Glycogen storage diseases type XI semapv:MappingInversion -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:exactMatch NANDO:1200834 Glycogen storage diseases type XII semapv:MappingInversion -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:exactMatch NANDO:1200835 Glycogen storage diseases type XIII semapv:MappingInversion -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:exactMatch NANDO:1200836 Glycogen storage diseases type XIV semapv:MappingInversion -MONDO:0013291 glycogen storage disease XV skos:exactMatch NANDO:1200837 Glycogen storage diseases type XV semapv:MappingInversion -MONDO:0002412 disorder of glycogen metabolism skos:exactMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion -MONDO:0002413 glycogen storage disease I skos:exactMatch NANDO:1200840 Hepatic glycogen storage disease type Ia semapv:MappingInversion -MONDO:0009288 glycogen storage disease Ib skos:exactMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion -MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:exactMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion -MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:1200844 Hepatic GSD type IIIc semapv:MappingInversion -MONDO:0009294 glycogen storage disease VI skos:exactMatch NANDO:1200846 Hepatic glycogen storage disease type VI semapv:MappingInversion -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch NANDO:1200847 Hepatic glycogen storage disease type IXa semapv:MappingInversion -MONDO:0009868 glycogen storage disease IXb skos:exactMatch NANDO:1200848 Hepatic glycogen storage disease type IXb semapv:MappingInversion -MONDO:0013091 glycogen storage disease IXc skos:exactMatch NANDO:1200849 Hepatic glycogen storage disease type IXc semapv:MappingInversion -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NANDO:1200850 Hepatic glycogen storage disease type IV semapv:MappingInversion -MONDO:0009258 classic galactosemia skos:exactMatch NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion -MONDO:0009515 Norum disease skos:exactMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion -MONDO:0018999 LCAT deficiency skos:exactMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion -MONDO:0008863 sitosterolemia skos:exactMatch NANDO:1200853 Sitosterolemia semapv:MappingInversion -MONDO:0008783 Tangier disease skos:exactMatch NANDO:1200854 Tangier disease semapv:MappingInversion -MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NANDO:1200856 Cerebrotendinous xanthomatosis semapv:MappingInversion -MONDO:0008692 abetalipoproteinemia skos:exactMatch NANDO:1200857 Abetalipoproteinemia semapv:MappingInversion -MONDO:0006573 lipodystrophy skos:exactMatch NANDO:1200858 Lipodystrophy semapv:MappingInversion -MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion -MONDO:0019193 acquired generalized lipodystrophy skos:exactMatch NANDO:1200860 Acquired generalized lipodystrophy semapv:MappingInversion -MONDO:0020088 familial partial lipodystrophy skos:exactMatch NANDO:1200861 Familial partial lipodystrophy semapv:MappingInversion -MONDO:0012104 acquired partial lipodystrophy skos:exactMatch NANDO:1200862 Acquired partial lipodystrophy semapv:MappingInversion -MONDO:0018088 familial Mediterranean fever skos:exactMatch NANDO:1200863 Familial Mediterranean fever semapv:MappingInversion -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:exactMatch NANDO:1200864 Typical familial Mediterranean fever semapv:MappingInversion -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion -MONDO:0012481 mevalonic aciduria skos:exactMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch NANDO:1200867 Nakajo-Nishimura syndrome semapv:MappingInversion -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch NANDO:1200869 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion -MONDO:0005306 ankylosing spondylitis skos:exactMatch NANDO:1200870 Ankylosing spondylitis semapv:MappingInversion -MONDO:0003964 myositis ossificans skos:exactMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion -MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion -MONDO:0019019 osteogenesis imperfecta skos:exactMatch NANDO:1200873 Osteogenesis imperfecta semapv:MappingInversion -MONDO:0017042 thanatophoric dysplasia skos:exactMatch NANDO:1200874 Thanatophoric dysplasia semapv:MappingInversion -MONDO:0008546 thanatophoric dysplasia type 1 skos:exactMatch NANDO:1200875 Thanatophoric dysplasia type 1 semapv:MappingInversion -MONDO:0008547 thanatophoric dysplasia type 2 skos:exactMatch NANDO:1200876 Thanatophoric dysplasia type 2 semapv:MappingInversion -MONDO:0007037 Achondroplasia skos:exactMatch NANDO:1200877 Achondroplasia semapv:MappingInversion -MONDO:0003157 disappearing bone disease skos:exactMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion -MONDO:0007414 Gorham-Stout disease skos:exactMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion -MONDO:0015408 diffuse lymphatic malformation skos:exactMatch NANDO:1200879 obsolete Lymphangiomatosis semapv:MappingInversion -MONDO:0003157 disappearing bone disease skos:exactMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion -MONDO:0007414 Gorham-Stout disease skos:exactMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion -MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion -MONDO:0019328 macrocystic lymphatic malformation skos:exactMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion -MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch NANDO:1200884 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NANDO:1200885 Congenital dyserythropoietic anemia semapv:MappingInversion -MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:exactMatch NANDO:1200886 Congenital dyserythropoietic anemia type I semapv:MappingInversion -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch NANDO:1200887 Congenital dyserythropoietic anemia type II semapv:MappingInversion -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch NANDO:1200888 Congenital dyserythropoietic anemia type III semapv:MappingInversion -MONDO:0020338 adult pure red cell aplasia skos:exactMatch NANDO:1200889 Acquired pure red cell aplasia semapv:MappingInversion -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch NANDO:1200890 Diamond-Blackfan anemia semapv:MappingInversion -MONDO:0019391 Fanconi anemia skos:exactMatch NANDO:1200891 Fanconi anemia semapv:MappingInversion -MONDO:0020099 inherited sideroblastic anemia skos:exactMatch NANDO:1200892 Hereditary sideroblastic anemia semapv:MappingInversion -MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:1200893 Epstein syndrome semapv:MappingInversion -MONDO:0020599 acquired coagulation factor deficiency skos:exactMatch NANDO:1200896 Autoimmune acquired coagulation factor deficiency semapv:MappingInversion -MONDO:0021133 acquired factor XIII deficiency skos:exactMatch NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 semapv:MappingInversion -MONDO:0019139 acquired hemophilia skos:exactMatch NANDO:1200898 Acquired hemophilia A semapv:MappingInversion -MONDO:0020460 acquired von willebrand syndrome skos:exactMatch NANDO:1200899 Acquired von Willebrand disease semapv:MappingInversion -MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch NANDO:1200901 Cronkhite-Canada syndrome semapv:MappingInversion -MONDO:0018309 Hirschsprung disease skos:exactMatch NANDO:1200903 Hirschsprung disease semapv:MappingInversion -MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:1200909 Cloacal exstrophy semapv:MappingInversion -MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:1200910 Persistent cloaca semapv:MappingInversion -MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NANDO:1200911 Congenital diaphragmatic hernia semapv:MappingInversion -MONDO:0008867 biliary atresia skos:exactMatch NANDO:1200913 Biliary atresia semapv:MappingInversion -MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch NANDO:1200913 Biliary atresia semapv:MappingInversion -MONDO:0007318 Alagille syndrome skos:exactMatch NANDO:1200918 Alagille syndrome semapv:MappingInversion -MONDO:0007318 Alagille syndrome skos:exactMatch NANDO:1200919 Typical Alagille syndrome semapv:MappingInversion -MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch NANDO:1200921 Hereditary pancreatitis semapv:MappingInversion -MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:1200922 Cystic fibrosis semapv:MappingInversion -MONDO:0017287 IgG4-related disease skos:exactMatch NANDO:1200923 IgG4-related disease semapv:MappingInversion -MONDO:0017287 IgG4-related disease skos:exactMatch NANDO:1200924 IgG4-related disease semapv:MappingInversion -MONDO:0015175 autoimmune pancreatitis skos:exactMatch NANDO:1200925 Autoimmune pancreatitis semapv:MappingInversion -MONDO:0018645 IgG4-related sclerosing cholangitis skos:exactMatch NANDO:1200928 IgG4-related sclerosing cholangitis semapv:MappingInversion -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:exactMatch NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis semapv:MappingInversion -MONDO:0018671 IgG4-related kidney disease skos:exactMatch NANDO:1200930 IgG4-related kidney disease semapv:MappingInversion -MONDO:0020242 hereditary macular dystrophy skos:exactMatch NANDO:1200931 Macular dystrophy semapv:MappingInversion -MONDO:0000390 vitelliform macular dystrophy skos:exactMatch NANDO:1200932 Vitelliform macular dystrophy semapv:MappingInversion -MONDO:0019353 Stargardt disease skos:exactMatch NANDO:1200933 Stargardt disease semapv:MappingInversion -MONDO:0013316 occult macular dystrophy skos:exactMatch NANDO:1200934 Occult macular dystrophy semapv:MappingInversion -MONDO:0000455 cone dystrophy skos:exactMatch NANDO:1200936 Cone dystrophy semapv:MappingInversion -MONDO:0015993 cone-rod dystrophy skos:exactMatch NANDO:1200937 Cone-rod dystrophy semapv:MappingInversion -MONDO:0010725 X-linked retinoschisis skos:exactMatch NANDO:1200938 X-linked juvenile retinoschisis semapv:MappingInversion -MONDO:0004890 partial central choroid dystrophy skos:exactMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion -MONDO:0008982 central areolar choroidal dystrophy skos:exactMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion -MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch NANDO:1200940 Leber hereditary optic neuropathy semapv:MappingInversion -MONDO:0019501 Usher syndrome skos:exactMatch NANDO:1200941 Usher syndrome semapv:MappingInversion -MONDO:0010168 Usher syndrome type 1 skos:exactMatch NANDO:1200942 Usher syndrome type I semapv:MappingInversion -MONDO:0016484 Usher syndrome type 2 skos:exactMatch NANDO:1200943 Usher syndrome Type II semapv:MappingInversion -MONDO:0016485 Usher syndrome type 3 skos:exactMatch NANDO:1200944 Usher syndrome Type III semapv:MappingInversion -MONDO:0010079 Canavan disease skos:exactMatch NANDO:1200948 Canavan disease semapv:MappingInversion -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion -MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:exactMatch NANDO:1200951 Vanishing white matter disease semapv:MappingInversion -MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:exactMatch NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure semapv:MappingInversion -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch NANDO:1200953 Progressive myoclonus epilepsy semapv:MappingInversion -MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch NANDO:1200954 Unverricht-Lundborg disease semapv:MappingInversion -MONDO:0009697 Lafora disease skos:exactMatch NANDO:1200955 Lafora disease semapv:MappingInversion -MONDO:0019448 benign adult familial myoclonic epilepsy skos:exactMatch NANDO:1200956 Benign adult familial myoclonus epilepsy semapv:MappingInversion -MONDO:0000839 obsolete congenital abnormality skos:exactMatch NANDO:1200957 Congenital anomalies syndrome semapv:MappingInversion -MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:exactMatch NANDO:1200958 Partial trisomy 1q semapv:MappingInversion -MONDO:0012455 Kleefstra syndrome skos:exactMatch NANDO:1200959 9q34 deletion syndrome semapv:MappingInversion -MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch NANDO:1200960 Cornelia de lange syndrome semapv:MappingInversion -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch NANDO:1200961 Smith-lemli-opitz syndrome semapv:MappingInversion -MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion -MONDO:0019813 congenital tricuspid stenosis skos:exactMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion -MONDO:0005852 mitral valve stenosis skos:exactMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion -MONDO:0020398 congenital mitral stenosis skos:exactMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch NANDO:1200964 Congenital pulmonary vein stenosis semapv:MappingInversion -MONDO:0008061 nail-patella syndrome skos:exactMatch NANDO:1200967 Nail-patella syndrome semapv:MappingInversion -MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:exactMatch NANDO:1200969 Carnitine cycle disorders semapv:MappingInversion -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch NANDO:1200970 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:1200971 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch NANDO:1200972 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion -MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch NANDO:1200973 Systemic primary carnitine deficiency semapv:MappingInversion -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NANDO:1200974 Trifunctional protein deficiency semapv:MappingInversion -MONDO:0016602 citrin deficiency skos:exactMatch NANDO:1200978 Citrin deficiency semapv:MappingInversion -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency semapv:MappingInversion -MONDO:0011326 citrullinemia, type II, adult-onset skos:exactMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion -MONDO:0016603 citrullinemia type II skos:exactMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch NANDO:1200982 Sepiapterin reductase deficiency semapv:MappingInversion -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:exactMatch NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency semapv:MappingInversion -MONDO:0011612 glycine encephalopathy skos:exactMatch NANDO:1200984 Nonketotic hyperglycinemia semapv:MappingInversion -MONDO:0017353 neonatal glycine encephalopathy skos:exactMatch NANDO:1200985 Neonatal nonketotic hyperglycinemia semapv:MappingInversion -MONDO:0017354 infantile glycine encephalopathy skos:exactMatch NANDO:1200986 Infantile nonketotic hyperglycinemia semapv:MappingInversion -MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch NANDO:1200987 Beta-ketothiolase deficiency semapv:MappingInversion -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion -MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch NANDO:1200989 Methylglutaconic aciduria semapv:MappingInversion -MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch NANDO:1200990 3-methylglutaconic aciduria type I semapv:MappingInversion -MONDO:0010543 Barth syndrome skos:exactMatch NANDO:1200991 3-methylglutaconicaciduria type II semapv:MappingInversion -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch NANDO:1200992 3-methylglutaconic aciduria type III semapv:MappingInversion -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch NANDO:1200994 NLRC4 mutation semapv:MappingInversion -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NANDO:1200995 Adenosine deaminase 2 deficiency semapv:MappingInversion -MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch NANDO:1200996 Aicardi-Goutières Syndrome semapv:MappingInversion -MONDO:0100222 A20 haploinsufficiency skos:exactMatch NANDO:1200997 A20 haploinsufficiency semapv:MappingInversion -MONDO:0017198 osteopetrosis skos:exactMatch NANDO:1200998 Osteopetrosis semapv:MappingInversion -MONDO:0019503 anterior segment dysgenesis skos:exactMatch NANDO:1201000 Anterior segment dysgenesis semapv:MappingInversion -MONDO:0019172 aniridia skos:exactMatch NANDO:1201001 Aniridia semapv:MappingInversion -MONDO:0011340 congenital tracheal stenosis skos:exactMatch NANDO:1201003 Congenital tracheal stenosis semapv:MappingInversion -MONDO:0015395 congenital subglottic stenosis skos:exactMatch NANDO:1201004 Congenital subglottic stenosis semapv:MappingInversion -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch NANDO:1201006 Gelatinous drop-like corneal dystrophy semapv:MappingInversion -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch NANDO:1201007 Hutchinson-Gilford syndrome semapv:MappingInversion -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NANDO:1201009 Systemic granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0016356 diffuse cutaneous systemic sclerosis skos:exactMatch NANDO:1201010 Diffuse cutaneous systemic sclerosis semapv:MappingInversion -MONDO:0016358 limited cutaneous systemic sclerosis skos:exactMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion -MONDO:0019563 CREST syndrome skos:exactMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion -MONDO:0002413 glycogen storage disease I skos:exactMatch NANDO:1201018 Hepatic glycogen storage disease type I semapv:MappingInversion -MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:1201019 Hepatic glycogen storage disease type III semapv:MappingInversion -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch NANDO:1201020 Hepatic glycogen storage disease type IX semapv:MappingInversion -MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:1201021 Cystic fibrosis semapv:MappingInversion -MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch NANDO:1201029 Mesangial proliferative glomerulonephritis semapv:MappingInversion -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch NANDO:1201032 Cerebral creatine deficiency syndromes semapv:MappingInversion -MONDO:0012996 AGAT deficiency skos:exactMatch NANDO:1201033 Arginine:glycine amidinotransferase deficiency semapv:MappingInversion -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NANDO:1201034 Guanidinoacetate methyltransferase deficiency semapv:MappingInversion -MONDO:0010305 creatine transporter deficiency skos:exactMatch NANDO:1201035 Creatine transporter deficiency semapv:MappingInversion -MONDO:0009728 nephronophthisis 1 skos:exactMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion -MONDO:0019005 nephronophthisis skos:exactMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:exactMatch NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 semapv:MappingInversion -MONDO:0004737 homocystinuria skos:exactMatch NANDO:1201038 Homocystinuria semapv:MappingInversion -MONDO:0009352 classic homocystinuria skos:exactMatch NANDO:1201039 Homocystinuria type 1 semapv:MappingInversion -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch NANDO:1201040 Homocystinuria type 2 semapv:MappingInversion -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:exactMatch NANDO:1201041 Homocystinuria type 3 semapv:MappingInversion -MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch NANDO:1201042 Progressive familial intrahepatic cholestasis semapv:MappingInversion -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 semapv:MappingInversion -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 semapv:MappingInversion -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 semapv:MappingInversion -MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:exactMatch NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 semapv:MappingInversion -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:exactMatch NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 semapv:MappingInversion -MONDO:0021134 acquired factor X deficiency skos:exactMatch NANDO:1201048 Acquired factor X inhibitor semapv:MappingInversion -MONDO:0017842 Senior-Loken syndrome skos:exactMatch NANDO:1201049 Senior-Loken syndrome semapv:MappingInversion -MONDO:0008996 obsolete COACH syndrome 1 skos:exactMatch NANDO:1201050 COACH syndrome semapv:MappingInversion -MONDO:0015375 orofaciodigital syndrome skos:exactMatch NANDO:1201051 Oral-facial-digital syndrome semapv:MappingInversion -MONDO:0011281 congenital myasthenic syndrome 5 skos:exactMatch NANDO:1201056 End-plate acetylcholine esterase deficiency semapv:MappingInversion -MONDO:0009689 congenital myasthenic syndrome 6 skos:exactMatch NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea semapv:MappingInversion -MONDO:0009955 rapadilino syndrome skos:exactMatch NANDO:1201058 RAPADILINO syndrome semapv:MappingInversion -MONDO:0009039 Baller-Gerold syndrome skos:exactMatch NANDO:1201059 Baller-Gerold syndrome semapv:MappingInversion -MONDO:0007100 familial amyloid neuropathy skos:exactMatch NANDO:1201060 Familial amyloid polyneuropathy type 1 semapv:MappingInversion -MONDO:0019731 AApoAI amyloidosis skos:exactMatch NANDO:1201062 Familial amyloid polyneuropathy type 3 semapv:MappingInversion -MONDO:0007097 Finnish type amyloidosis skos:exactMatch NANDO:1201063 Familial amyloid polyneuropathy type 4 semapv:MappingInversion -MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch NANDO:1201064 Kearns-Sayre syndrome semapv:MappingInversion -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch NANDO:1201065 Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:exactMatch NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma semapv:MappingInversion -MONDO:0015146 classic lissencephaly skos:exactMatch NANDO:1201068 Agyria semapv:MappingInversion -MONDO:0022402 agyria-pachygyria type 1 skos:exactMatch NANDO:1201068 Agyria semapv:MappingInversion -MONDO:0015146 classic lissencephaly skos:exactMatch NANDO:1201069 Pachygyria semapv:MappingInversion -MONDO:0022402 agyria-pachygyria type 1 skos:exactMatch NANDO:1201069 Pachygyria semapv:MappingInversion -MONDO:0020491 subcortical band heterotopia skos:exactMatch NANDO:1201070 Subcortical band heterotopia semapv:MappingInversion -MONDO:0000087 polymicrogyria skos:exactMatch NANDO:1201071 Polymicrogyria semapv:MappingInversion -MONDO:0018869 cobblestone lissencephaly skos:exactMatch NANDO:1201072 Cobblestone brain malformation semapv:MappingInversion -MONDO:0010011 schizencephaly skos:exactMatch NANDO:1201073 Schizencephaly semapv:MappingInversion -MONDO:0017410 porencephaly skos:exactMatch NANDO:1201074 Porencephaly semapv:MappingInversion -MONDO:0007078 Pseudohypoparathyroidism type 1A skos:exactMatch NANDO:1201075 Pseudohypoparathyroidism type 1A semapv:MappingInversion -MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch NANDO:1201076 Pseudohypoparathyroidism type 1B semapv:MappingInversion -MONDO:0012911 pseudohypoparathyroidism type 1C skos:exactMatch NANDO:1201077 Pseudohypoparathyroidism type 1C semapv:MappingInversion -MONDO:0008749 pseudohypoparathyroidism type 2 skos:exactMatch NANDO:1201078 Pseudohypoparathyroidism type 2 semapv:MappingInversion -MONDO:0020341 periventricular nodular heterotopia skos:exactMatch NANDO:1201079 Periventricular nodular heterotopia semapv:MappingInversion -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NANDO:1201080 Protein C deficiency semapv:MappingInversion -MONDO:0002304 protein S deficiency skos:exactMatch NANDO:1201081 Protein S deficiency semapv:MappingInversion -MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch NANDO:1201083 Miller Dieker syndrome semapv:MappingInversion -MONDO:0004355 childhood leukemia skos:exactMatch NANDO:2100002 Leukemia semapv:MappingInversion -MONDO:0005059 leukemia skos:exactMatch NANDO:2100002 Leukemia semapv:MappingInversion -MONDO:0018881 myelodysplastic syndrome skos:exactMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion -MONDO:0044873 childhood myelodysplastic syndrome skos:exactMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion -MONDO:0003659 pediatric lymphoma skos:exactMatch NANDO:2100004 Lymphoma semapv:MappingInversion -MONDO:0003660 adult lymphoma skos:exactMatch NANDO:2100004 Lymphoma semapv:MappingInversion -MONDO:0005062 lymphoma skos:exactMatch NANDO:2100004 Lymphoma semapv:MappingInversion -MONDO:0002637 histiocytosis skos:exactMatch NANDO:2100005 Histiocytosis semapv:MappingInversion -MONDO:0002714 central nervous system cancer skos:exactMatch NANDO:2100007 Central nervous system tumors semapv:MappingInversion -MONDO:0005300 chronic kidney disease skos:exactMatch NANDO:2100008 Chronic kidney disease semapv:MappingInversion -MONDO:0005377 nephrotic syndrome skos:exactMatch NANDO:2100009 Nephrotic syndrome semapv:MappingInversion -MONDO:0001110 chronic pyelonephritis skos:exactMatch NANDO:2100012 Chronic pyelonephritis semapv:MappingInversion -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch NANDO:2100014 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion -MONDO:0019005 nephronophthisis skos:exactMatch NANDO:2100015 Nephronophthisis semapv:MappingInversion -MONDO:0001105 renal hypertension skos:exactMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion -MONDO:0006947 renovascular hypertension skos:exactMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion -MONDO:0001909 renal tubular acidosis skos:exactMatch NANDO:2100019 Renal tubular acidosis semapv:MappingInversion -MONDO:0009904 Gitelman syndrome skos:exactMatch NANDO:2100020 Gitelman syndrome semapv:MappingInversion -MONDO:0015231 Bartter syndrome skos:exactMatch NANDO:2100021 Bartter syndrome semapv:MappingInversion -MONDO:0005300 chronic kidney disease skos:exactMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion -MONDO:0024327 chronic renal failure syndrome skos:exactMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion -MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch NANDO:2100027 Fanconi syndrome semapv:MappingInversion -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch NANDO:2100028 Lowe syndrome semapv:MappingInversion -MONDO:0010940 inherited susceptibility to asthma skos:exactMatch NANDO:2100031 Bronchial asthma semapv:MappingInversion -MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:exactMatch NANDO:2100032 Congenital central hypoventilation syndrome semapv:MappingInversion -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NANDO:2100034 Primary ciliary dyskinesia semapv:MappingInversion -MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:2100035 Cystic fibrosis semapv:MappingInversion -MONDO:0004822 bronchiectasis skos:exactMatch NANDO:2100036 Bronchiectasis semapv:MappingInversion -MONDO:0008346 pulmonary hemosiderosis skos:exactMatch NANDO:2100037 Idiopathic pulmonary hemosiderosis semapv:MappingInversion -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NANDO:2100039 Bronchiolitis obliterans semapv:MappingInversion -MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NANDO:2100040 Congenital diaphragmatic hernia semapv:MappingInversion -MONDO:0001823 sick sinus syndrome skos:exactMatch NANDO:2100043 Sick sinus syndrome semapv:MappingInversion -MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch NANDO:2100044 Mobitz type II second degree atrioventricular block semapv:MappingInversion -MONDO:0020803 obsolete bundle branch block skos:exactMatch NANDO:2100046 Bundle branch block semapv:MappingInversion -MONDO:0005477 ventricular tachycardia skos:exactMatch NANDO:2100049 Ventricular tachycardia semapv:MappingInversion -MONDO:0005310 atrial flutter skos:exactMatch NANDO:2100050 Atrial flutter semapv:MappingInversion -MONDO:0004981 atrial fibrillation skos:exactMatch NANDO:2100051 Atrial fibrillation semapv:MappingInversion -MONDO:0000190 ventricular fibrillation skos:exactMatch NANDO:2100052 Ventricular fibrillation semapv:MappingInversion -MONDO:0002442 long QT syndrome skos:exactMatch NANDO:2100053 Long QT syndrome semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:2100054 Hypertrophic cardiomyopathy semapv:MappingInversion -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion -MONDO:0005021 dilated cardiomyopathy skos:exactMatch NANDO:2100057 Dilated cardiomyopathy semapv:MappingInversion -MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:2100058 Restrictive cardiomyopathy semapv:MappingInversion -MONDO:0009169 endocardial fibroelastosis skos:exactMatch NANDO:2100060 Endocardial fibroelastosis semapv:MappingInversion -MONDO:0021209 heart neoplasm skos:exactMatch NANDO:2100061 Cardiac tumor semapv:MappingInversion -MONDO:0006711 constrictive pericarditis skos:exactMatch NANDO:2100064 Constrictive pericarditis semapv:MappingInversion -MONDO:0024644 myocardial ischemia skos:exactMatch NANDO:2100070 Ischemic heart disease semapv:MappingInversion -MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NANDO:2100071 Hypoplastic left heart syndrome semapv:MappingInversion -MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:2100073 Tricuspid atresia semapv:MappingInversion -MONDO:0008542 tetralogy of fallot skos:exactMatch NANDO:2100075 Tetralogy of Fallot semapv:MappingInversion -MONDO:0018089 double outlet right ventricle skos:exactMatch NANDO:2100076 Double outlet right ventricle semapv:MappingInversion -MONDO:0018090 double outlet left ventricle skos:exactMatch NANDO:2100077 Double-outlet left ventricle semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:2100079 Congenitally corrected transposition of the great arteries semapv:MappingInversion -MONDO:0009144 Ebstein anomaly skos:exactMatch NANDO:2100080 Ebstein's anomaly semapv:MappingInversion -MONDO:0021902 aortopulmonary window skos:exactMatch NANDO:2100082 Aorto-pulmonary window semapv:MappingInversion -MONDO:0015450 triatrial heart skos:exactMatch NANDO:2100083 Cor triatriatum semapv:MappingInversion -MONDO:0011827 patent ductus arteriosus skos:exactMatch NANDO:2100084 Patent ductus arteriosus semapv:MappingInversion -MONDO:0006664 atrial septal defect skos:exactMatch NANDO:2100085 Atrial septal defect semapv:MappingInversion -MONDO:0015273 complete atrioventricular canal skos:exactMatch NANDO:2100086 Complete atrioventricular septal defect semapv:MappingInversion -MONDO:0002070 ventricular septal defect skos:exactMatch NANDO:2100087 Ventricular septal defect semapv:MappingInversion -MONDO:0020428 congenital Gerbode defect skos:exactMatch NANDO:2100090 Left ventricular-right atrial communication semapv:MappingInversion -MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch NANDO:2100092 Subvalvular pulmonary stenosis semapv:MappingInversion -MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NANDO:2100093 Subvalvular aortic stenosis semapv:MappingInversion -MONDO:0020064 pulmonary valve agenesis skos:exactMatch NANDO:2100095 Absent pulmonary valve semapv:MappingInversion -MONDO:0004978 obsolete aortic stenosis skos:exactMatch NANDO:2100098 Aortic stenosis semapv:MappingInversion -MONDO:0005160 aortic aneurysm skos:exactMatch NANDO:2100101 Aortic aneurysm semapv:MappingInversion -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NANDO:2100103 Pulmonary arterial hypertension semapv:MappingInversion -MONDO:0002869 heart valve disorder skos:exactMatch NANDO:2100105 Valvular heart disease semapv:MappingInversion -MONDO:0005151 endocrine system disorder skos:exactMatch NANDO:2100109 Endocrine disease semapv:MappingInversion -MONDO:0005152 hypopituitarism skos:exactMatch NANDO:2100110 Hypopituitarism semapv:MappingInversion -MONDO:0020479 pituitary gigantism skos:exactMatch NANDO:2100111 Pituitary gigantism semapv:MappingInversion -MONDO:0019933 acromegaly skos:exactMatch NANDO:2100112 Acromegaly semapv:MappingInversion -MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch NANDO:2100114 Growth hormone insensitivity semapv:MappingInversion -MONDO:0005804 hyperprolactinemia skos:exactMatch NANDO:2100115 Hyperprolactinemia semapv:MappingInversion -MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion -MONDO:0004782 diabetes insipidus skos:exactMatch NANDO:2100117 Diabetes insipidus semapv:MappingInversion -MONDO:0004425 hyperthyroidism skos:exactMatch NANDO:2100119 Hyperthyroidism semapv:MappingInversion -MONDO:0005420 hypothyroidism skos:exactMatch NANDO:2100120 Hypothyroidism semapv:MappingInversion -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0001741 hyperparathyroidism skos:exactMatch NANDO:2100123 Hyperparathyroidism semapv:MappingInversion -MONDO:0001220 hypoparathyroidism skos:exactMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion -MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion -MONDO:0017278 autoimmune polyendocrinopathy skos:exactMatch NANDO:2100125 Autoimmune polyendocrinopathy semapv:MappingInversion -MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NANDO:2100126 Pseudohypoparathyroidism semapv:MappingInversion -MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:exactMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion -MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion -MONDO:0008323 Liddle syndrome skos:exactMatch NANDO:2100131 Liddle syndrome semapv:MappingInversion -MONDO:0015900 hypoaldosteronism disease skos:exactMatch NANDO:2100132 Hypoaldosteronism semapv:MappingInversion -MONDO:0018638 pseudohypoaldosteronism skos:exactMatch NANDO:2100133 Pseudohypoaldosteronism semapv:MappingInversion -MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:2100134 Congenital adrenal hyperplasia semapv:MappingInversion -MONDO:0000088 precocious puberty skos:exactMatch NANDO:2100135 Precocious puberty semapv:MappingInversion -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NANDO:2100138 Hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0005387 primary ovarian failure skos:exactMatch NANDO:2100139 Hypergonadotropic hypogonadism semapv:MappingInversion -MONDO:0002145 disorder of sexual differentiation skos:exactMatch NANDO:2100140 Disorders of sex development semapv:MappingInversion -MONDO:0019959 glucagonoma skos:exactMatch NANDO:2100142 Glucagonoma semapv:MappingInversion -MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion -MONDO:0017182 familial hyperinsulinism skos:exactMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion -MONDO:0024299 vitamin D-dependent rickets skos:exactMatch NANDO:2100144 Vitamin D-dependent rickets semapv:MappingInversion -MONDO:0006573 lipodystrophy skos:exactMatch NANDO:2100147 Lipodystrophy semapv:MappingInversion -MONDO:0017169 multiple endocrine neoplasia skos:exactMatch NANDO:2100148 Multiple endocrine neoplasia semapv:MappingInversion -MONDO:0008487 polycystic ovary syndrome skos:exactMatch NANDO:2100149 Polycystic ovary syndrome semapv:MappingInversion -MONDO:0005554 rheumatic disorder skos:exactMatch NANDO:2100151 Collagen disease semapv:MappingInversion -MONDO:0005554 rheumatic disorder skos:exactMatch NANDO:2100152 Collagen disease semapv:MappingInversion -MONDO:0019125 relapsing polychondritis skos:exactMatch NANDO:2100154 Relapsing Polychondritis semapv:MappingInversion -MONDO:0019751 autoinflammatory syndrome skos:exactMatch NANDO:2100156 Autoinflammatory disease semapv:MappingInversion -MONDO:0005015 diabetes mellitus skos:exactMatch NANDO:2100157 Diabetes semapv:MappingInversion -MONDO:0005015 diabetes mellitus skos:exactMatch NANDO:2100158 Diabetes semapv:MappingInversion -MONDO:0019052 inborn errors of metabolism skos:exactMatch NANDO:2100159 Inborn errors of metabolism semapv:MappingInversion -MONDO:0037871 amino acid metabolism disease skos:exactMatch NANDO:2100160 Disorder of amino acid metabolism semapv:MappingInversion -MONDO:0045022 disorder of organic acid metabolism skos:exactMatch NANDO:2100161 Disorder of organic acid metabolism semapv:MappingInversion -MONDO:0037858 inherited fatty acid metabolism disorder skos:exactMatch NANDO:2100162 Disorder of fatty-acid metabolism semapv:MappingInversion -MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion -MONDO:0044970 mitochondrial disease skos:exactMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion -MONDO:0019214 inborn carbohydrate metabolic disorder skos:exactMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion -MONDO:0037792 carbohydrate metabolism disease skos:exactMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion -MONDO:0002561 lysosomal storage disease skos:exactMatch NANDO:2100165 Lysosomal storage disease semapv:MappingInversion -MONDO:0019053 peroxisomal disease skos:exactMatch NANDO:2100166 Peroxisomal disorder semapv:MappingInversion -MONDO:0003900 connective tissue disorder skos:exactMatch NANDO:2100172 Connective tissue disorder semapv:MappingInversion -MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NANDO:2100174 Alpha-1-antitrypsin deficiency semapv:MappingInversion -MONDO:0005570 hematologic disorder skos:exactMatch NANDO:2100175 Blood disease semapv:MappingInversion -MONDO:0001700 megaloblastic anemia skos:exactMatch NANDO:2100176 Megaloblastic anemia semapv:MappingInversion -MONDO:0001705 pure red-cell aplasia skos:exactMatch NANDO:2100177 Pure red cell aplasia semapv:MappingInversion -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NANDO:2100178 Congenital dyserythropoietic anemia semapv:MappingInversion -MONDO:0015194 sideroblastic anemia skos:exactMatch NANDO:2100179 Sideroblastic anemia semapv:MappingInversion -MONDO:0008846 atransferrinemia skos:exactMatch NANDO:2100180 Congenital atransferrinemia semapv:MappingInversion -MONDO:0020108 autoimmune hemolytic anemia skos:exactMatch NANDO:2100181 Autoimmune hemolytic anemia semapv:MappingInversion -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:2100182 Paroxysmal nocturnal haemoglobinuria semapv:MappingInversion -MONDO:0003689 familial hemolytic anemia skos:exactMatch NANDO:2100183 Hereditary hemolytic anemia semapv:MappingInversion -MONDO:0009891 acquired polycythemia vera skos:exactMatch NANDO:2100186 Polycythemia vera semapv:MappingInversion -MONDO:0001115 familial polycythemia skos:exactMatch NANDO:2100187 Familial polycythemia semapv:MappingInversion -MONDO:0043768 thrombocytopenic purpura skos:exactMatch NANDO:2100188 Thrombocytopenic purpura semapv:MappingInversion -MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NANDO:2100189 Thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch NANDO:2100192 Cyclic thrombocytopenia semapv:MappingInversion -MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:2100193 May-Hegglin anomaly semapv:MappingInversion -MONDO:0005029 essential thrombocythemia skos:exactMatch NANDO:2100194 Essential thrombocythemia semapv:MappingInversion -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NANDO:2100197 Protein C deficiency semapv:MappingInversion -MONDO:0002304 protein S deficiency skos:exactMatch NANDO:2100198 Protein S deficiency semapv:MappingInversion -MONDO:0044903 myelofibrosis skos:exactMatch NANDO:2100200 Myelofibrosis semapv:MappingInversion -MONDO:0015909 aplastic anemia skos:exactMatch NANDO:2100201 Aplastic anemia semapv:MappingInversion -MONDO:0005046 immune system disorder skos:exactMatch NANDO:2100202 Immune system disease semapv:MappingInversion -MONDO:0015131 combined immunodeficiency skos:exactMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion -MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion -MONDO:0003778 inborn error of immunity skos:exactMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion -MONDO:0021094 immunodeficiency disease skos:exactMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion -MONDO:0012268 AIDS skos:exactMatch NANDO:2100212 Acquired immune deficiency syndrome semapv:MappingInversion -MONDO:0020547 chronic graft versus host disease skos:exactMatch NANDO:2100213 Chronic graft-versus-host disease semapv:MappingInversion -MONDO:0019056 neuromuscular disease skos:exactMatch NANDO:2100214 Neuromuscular disease semapv:MappingInversion -MONDO:0017069 spina bifida cystica skos:exactMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion -MONDO:0019773 myelomeningocele skos:exactMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion -MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NANDO:2100216 Sacrococcygeal teratoma semapv:MappingInversion -MONDO:0016054 cerebral malformation skos:exactMatch NANDO:2100217 Brain malformation semapv:MappingInversion -MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch NANDO:2100218 Joubert syndrome related disorders semapv:MappingInversion -MONDO:0010726 Rett syndrome skos:exactMatch NANDO:2100219 Rett syndrome semapv:MappingInversion -MONDO:0042983 neurocutaneous syndrome skos:exactMatch NANDO:2100220 Neurocutaneous syndrome semapv:MappingInversion -MONDO:0015333 progeroid syndrome skos:exactMatch NANDO:2100221 Progeroid syndromes semapv:MappingInversion -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NANDO:2100223 ATR-X syndrome semapv:MappingInversion -MONDO:0010383 fragile X syndrome skos:exactMatch NANDO:2100224 Fragile X syndrome semapv:MappingInversion -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch NANDO:2100226 Cerebral creatine deficiency syndromes semapv:MappingInversion -MONDO:0015469 craniosynostosis skos:exactMatch NANDO:2100227 Craniosynostosis semapv:MappingInversion -MONDO:0016820 Moyamoya disease skos:exactMatch NANDO:2100228 Moyamoya disease semapv:MappingInversion -MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch NANDO:2100229 Cerebral arteriovenous malformation semapv:MappingInversion -MONDO:0001516 spinal muscular atrophy skos:exactMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion -MONDO:0019079 proximal spinal muscular atrophy skos:exactMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion -MONDO:0020121 muscular dystrophy skos:exactMatch NANDO:2100233 Muscular dystrophy semapv:MappingInversion -MONDO:0019952 congenital myopathy skos:exactMatch NANDO:2100234 Congenital myopathy semapv:MappingInversion -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NANDO:2100235 Schwartz-Jampel syndrome semapv:MappingInversion -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch NANDO:2100237 Progressive myoclonus epilepsy semapv:MappingInversion -MONDO:0000437 cerebellar ataxia skos:exactMatch NANDO:2100238 Spinocerebellar degeneration semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:2100239 Alternating hemiplegia of childhood semapv:MappingInversion -MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NANDO:2100240 Dystonia musculorum deformans semapv:MappingInversion -MONDO:0018307 neurodegeneration with brain iron accumulation skos:exactMatch NANDO:2100241 Neurodegeneration with brain iron accumulation semapv:MappingInversion -MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch NANDO:2100242 Infantile bilateral striatal necrosis semapv:MappingInversion -MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch NANDO:2100244 Aicardi-Goutières Syndrome semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:2100245 Subacute sclerosing panencephalitis semapv:MappingInversion -MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NANDO:2100246 Rasmussen's encephalitis semapv:MappingInversion -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion -MONDO:0020640 autoimmune encephalitis skos:exactMatch NANDO:2100248 Autoimmune encephalitis semapv:MappingInversion -MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion -MONDO:0005301 multiple sclerosis skos:exactMatch NANDO:2100250 Multiple sclerosis semapv:MappingInversion -MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0009688 myasthenia gravis skos:exactMatch NANDO:2100252 Myasthenia gravis semapv:MappingInversion -MONDO:0009635 microvillus inclusion disease skos:exactMatch NANDO:2100255 Microvillus inclusion disease semapv:MappingInversion -MONDO:0018178 intestinal lymphangiectasia skos:exactMatch NANDO:2100256 Intestinal lymphangiectasia semapv:MappingInversion -MONDO:0000147 polyposis skos:exactMatch NANDO:2100257 Polyposis semapv:MappingInversion -MONDO:0010778 cyclic vomiting syndrome skos:exactMatch NANDO:2100258 Cyclic vomiting syndrome semapv:MappingInversion -MONDO:0005265 inflammatory bowel disease skos:exactMatch NANDO:2100259 Inflammatory bowel disease semapv:MappingInversion -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion -MONDO:0016264 autoimmune hepatitis skos:exactMatch NANDO:2100264 Autoimmune hepatitis semapv:MappingInversion -MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion -MONDO:0018646 sclerosing cholangitis skos:exactMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion -MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch NANDO:2100267 Congenital hepatic fibrosis semapv:MappingInversion -MONDO:0005155 cirrhosis of liver skos:exactMatch NANDO:2100268 Liver cirrhosis semapv:MappingInversion -MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch NANDO:2100272 Crigler-Najjar syndrome semapv:MappingInversion -MONDO:0015183 short bowel syndrome skos:exactMatch NANDO:2100274 Short bowel syndrome semapv:MappingInversion -MONDO:0019040 chromosomal disorder skos:exactMatch NANDO:2100279 Chromosome abnormality semapv:MappingInversion -MONDO:0019040 chromosomal disorder skos:exactMatch NANDO:2100280 Chromosome abnormality semapv:MappingInversion -MONDO:0005093 skin disorder skos:exactMatch NANDO:2100281 Skin disease semapv:MappingInversion -MONDO:0015947 inherited ichthyosis skos:exactMatch NANDO:2100283 Congenital ichthyosis semapv:MappingInversion -MONDO:0006541 epidermolysis bullosa skos:exactMatch NANDO:2100284 Epidermolysis bullosa semapv:MappingInversion -MONDO:0022205 pustular psoriasis skos:exactMatch NANDO:2100285 Pustular psoriasis semapv:MappingInversion -MONDO:0019600 xeroderma pigmentosum skos:exactMatch NANDO:2100286 Xeroderma pigmentosum semapv:MappingInversion -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:2100287 von Recklinghausen's disease semapv:MappingInversion -MONDO:0009799 obsolete pachydermoperiostosis skos:exactMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion -MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NANDO:2100290 Stevens-Johnson syndrome semapv:MappingInversion -MONDO:0005381 bone disorder skos:exactMatch NANDO:2100291 Bone disease semapv:MappingInversion -MONDO:0005381 bone disorder skos:exactMatch NANDO:2100293 Bone disease semapv:MappingInversion -MONDO:0005385 vascular disorder skos:exactMatch NANDO:2100294 Vascular disease semapv:MappingInversion -MONDO:0024291 vascular malformation skos:exactMatch NANDO:2100295 Vascular malformation semapv:MappingInversion -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NANDO:2100296 Hereditary hemorrhagic telangiectasia semapv:MappingInversion -MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch NANDO:2100297 Kasabach-Merritt syndrome semapv:MappingInversion -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch NANDO:2200001 B-cell precursor lymphoblastic leukemia semapv:MappingInversion -MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:exactMatch NANDO:2200002 Mature B-cell lymphoblastic leukemia semapv:MappingInversion -MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch NANDO:2200003 T-cell lymphoblastic leukemia semapv:MappingInversion -MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:exactMatch NANDO:2200004 Acute myeloid leukemia with minimal differentiation semapv:MappingInversion -MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch NANDO:2200005 Acute myeloid leukemia without maturation semapv:MappingInversion -MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch NANDO:2200006 Acute myeloid leukemia with maturation semapv:MappingInversion -MONDO:0012883 acute promyelocytic leukemia skos:exactMatch NANDO:2200007 Acute promyelocytic leukemia semapv:MappingInversion -MONDO:0000875 adult acute monocytic leukemia skos:exactMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion -MONDO:0007896 acute monocytic leukemia skos:exactMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion -MONDO:0000875 adult acute monocytic leukemia skos:exactMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion -MONDO:0007896 acute monocytic leukemia skos:exactMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion -MONDO:0017858 acute erythroid leukemia skos:exactMatch NANDO:2200010 Acute erythremia semapv:MappingInversion -MONDO:0018872 acute megakaryoblastic leukemia skos:exactMatch NANDO:2200011 Acute megakaryoblastic leukemia semapv:MappingInversion -MONDO:0019470 aggressive NK-cell leukemia skos:exactMatch NANDO:2200012 NK cell leukemia semapv:MappingInversion -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:exactMatch NANDO:2200013 Chronic myeloid leukemia semapv:MappingInversion -MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion -MONDO:0020311 chronic myelomonocytic leukemia skos:exactMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion -MONDO:0011908 juvenile myelomonocytic leukemia skos:exactMatch NANDO:2200015 Juvenile myelomonocytic leukemia semapv:MappingInversion -MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion -MONDO:0020321 acute undifferentiated leukemia skos:exactMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion -MONDO:0019460 acute leukemia of ambiguous lineage skos:exactMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion -MONDO:0020743 mixed phenotype acute leukemia skos:exactMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion -MONDO:0018881 myelodysplastic syndrome skos:exactMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion -MONDO:0044873 childhood myelodysplastic syndrome skos:exactMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion -MONDO:0015759 B-cell non-Hodgkin lymphoma skos:exactMatch NANDO:2200020 Mature B-cell lymphoma semapv:MappingInversion -MONDO:0020325 anaplastic large cell lymphoma skos:exactMatch NANDO:2200021 Anaplastic large cell lymphoma semapv:MappingInversion -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:exactMatch NANDO:2200022 Precursor B lymphoblastic lymphoma semapv:MappingInversion -MONDO:0044917 T-lymphoblastic lymphoma skos:exactMatch NANDO:2200023 Precursor T lymphoblastic lymphoma semapv:MappingInversion -MONDO:0004952 Hodgkins lymphoma skos:exactMatch NANDO:2200024 Hodgkin lymphoma semapv:MappingInversion -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:exactMatch NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type semapv:MappingInversion -MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:exactMatch NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified semapv:MappingInversion -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:exactMatch NANDO:2200029 Angioimmunoblastic T-cell lymphoma semapv:MappingInversion -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:exactMatch NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma semapv:MappingInversion -MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:exactMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion -MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:exactMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion -MONDO:0018310 Langerhans cell histiocytosis skos:exactMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion -MONDO:0015540 hemophagocytic syndrome skos:exactMatch NANDO:2200032 Hemophagocytic lymphohistiocytosis semapv:MappingInversion -MONDO:0005764 follicular dendritic cell sarcoma skos:exactMatch NANDO:2200034 Follicular dendritic cell sarcoma semapv:MappingInversion -MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch NANDO:2200035 Interdigitating dendritic cell sarcoma semapv:MappingInversion -MONDO:0019480 Langerhans cell sarcoma skos:exactMatch NANDO:2200036 Langerhans cell sarcoma semapv:MappingInversion -MONDO:0015534 juvenile xanthogranuloma skos:exactMatch NANDO:2200037 Juvenile xanthogranuloma semapv:MappingInversion -MONDO:0018153 Erdheim-Chester disease skos:exactMatch NANDO:2200038 Erdheim-Chester disease semapv:MappingInversion -MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:exactMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion -MONDO:0044354 obsolete Rosai-Dorfman disease skos:exactMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion -MONDO:0005072 neuroblastoma skos:exactMatch NANDO:2200040 Neuroblastoma semapv:MappingInversion -MONDO:0005035 ganglioneuroblastoma skos:exactMatch NANDO:2200041 Ganglioneuroblastoma semapv:MappingInversion -MONDO:0008380 retinoblastoma skos:exactMatch NANDO:2200042 Retinoblastoma semapv:MappingInversion -MONDO:0019004 kidney Wilms tumor skos:exactMatch NANDO:2200043 Wilms tumour semapv:MappingInversion -MONDO:0005006 clear cell sarcoma of kidney skos:exactMatch NANDO:2200044 Clear cell sarcoma of the kidney semapv:MappingInversion -MONDO:0005086 renal cell carcinoma skos:exactMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion -MONDO:0005549 renal cell adenocarcinoma skos:exactMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion -MONDO:0018666 hepatoblastoma skos:exactMatch NANDO:2200046 Hepatoblastoma semapv:MappingInversion -MONDO:0007256 hepatocellular carcinoma skos:exactMatch NANDO:2200047 Hepatocellular carcinoma semapv:MappingInversion -MONDO:0002623 pediatric osteosarcoma skos:exactMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion -MONDO:0009807 osteosarcoma skos:exactMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion -MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion -MONDO:0008145 Ollier disease skos:exactMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion -MONDO:0008977 chondrosarcoma skos:exactMatch NANDO:2200050 Chondrosarcoma semapv:MappingInversion -MONDO:0004997 chondroblastoma skos:exactMatch NANDO:2200051 Chondroblastoma semapv:MappingInversion -MONDO:0006287 malignancy in giant cell tumor of bone skos:exactMatch NANDO:2200052 Malignancy in giant cell tumour of bone semapv:MappingInversion -MONDO:0012817 Ewing sarcoma skos:exactMatch NANDO:2200053 Ewing's sarcoma semapv:MappingInversion -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch NANDO:2200054 Primitive neuroectodermal tumors semapv:MappingInversion -MONDO:0018271 peripheral primitive neuroectodermal tumor skos:exactMatch NANDO:2200055 Peripheral primitive neuroectodermal tumors semapv:MappingInversion -MONDO:0005212 rhabdomyosarcoma skos:exactMatch NANDO:2200056 Rhabdomyosarcoma semapv:MappingInversion -MONDO:0002728 rhabdoid tumor skos:exactMatch NANDO:2200057 Malignant rhabdoid tumour semapv:MappingInversion -MONDO:0005102 undifferentiated (embryonal) sarcoma skos:exactMatch NANDO:2200058 Undifferentiated sarcoma semapv:MappingInversion -MONDO:0019373 desmoplastic small round cell tumor skos:exactMatch NANDO:2200059 Desmoplastic small round cell tumors semapv:MappingInversion -MONDO:0002676 adult fibrosarcoma skos:exactMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion -MONDO:0002678 pediatric fibrosarcoma skos:exactMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion -MONDO:0005164 fibrosarcoma skos:exactMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion -MONDO:0010434 synovial sarcoma skos:exactMatch NANDO:2200061 Synovial sarcoma semapv:MappingInversion -MONDO:0002926 clear cell sarcoma skos:exactMatch NANDO:2200062 Clear cell sarcoma semapv:MappingInversion -MONDO:0011655 alveolar soft part sarcoma skos:exactMatch NANDO:2200063 Alveolar soft part sarcoma semapv:MappingInversion -MONDO:0005058 leiomyosarcoma skos:exactMatch NANDO:2200064 Leiomyosarcoma semapv:MappingInversion -MONDO:0003585 adult liposarcoma skos:exactMatch NANDO:2200065 Liposarcoma semapv:MappingInversion -MONDO:0003587 pediatric liposarcoma skos:exactMatch NANDO:2200065 Liposarcoma semapv:MappingInversion -MONDO:0005060 liposarcoma skos:exactMatch NANDO:2200065 Liposarcoma semapv:MappingInversion -MONDO:0003002 dysgerminoma skos:exactMatch NANDO:2200066 Dysgerminoma semapv:MappingInversion -MONDO:0005440 embryonal carcinoma skos:exactMatch NANDO:2200067 Embryonal carcinoma semapv:MappingInversion -MONDO:0015863 polyembryoma skos:exactMatch NANDO:2200068 Polyembryoma semapv:MappingInversion -MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion -MONDO:0005744 yolk sac tumor skos:exactMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion -MONDO:0005207 choriocarcinoma skos:exactMatch NANDO:2200070 Choriocarcinoma semapv:MappingInversion -MONDO:0015864 mixed germ cell tumor skos:exactMatch NANDO:2200071 Mixed germ cell tumour semapv:MappingInversion -MONDO:0006055 sex cord-stromal tumor skos:exactMatch NANDO:2200072 Sex-cord stromal tumour semapv:MappingInversion -MONDO:0006639 adrenal cortex carcinoma skos:exactMatch NANDO:2200073 Adrenocortical carcinoma semapv:MappingInversion -MONDO:0002108 thyroid cancer skos:exactMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion -MONDO:0015075 thyroid gland carcinoma skos:exactMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion -MONDO:0000521 salivary gland carcinoma skos:exactMatch NANDO:2200076 Salivary grand carcinoma semapv:MappingInversion -MONDO:0005105 melanoma skos:exactMatch NANDO:2200077 Malignant melanoma semapv:MappingInversion -MONDO:0004974 adrenal gland pheochromocytoma skos:exactMatch NANDO:2200078 Pheochromocytoma semapv:MappingInversion -MONDO:0006451 thymic carcinoma skos:exactMatch NANDO:2200079 Malignant thymoma semapv:MappingInversion -MONDO:0011014 pleuropulmonary blastoma skos:exactMatch NANDO:2200080 Pleuropulmonaryblastoma semapv:MappingInversion -MONDO:0002807 bronchial neoplasm skos:exactMatch NANDO:2200081 Bronchial tumour semapv:MappingInversion -MONDO:0019035 pancreatoblastoma skos:exactMatch NANDO:2200082 Pancreatoblastoma semapv:MappingInversion -MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion -MONDO:0016691 pilocytic astrocytoma skos:exactMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion -MONDO:0016686 diffuse astrocytoma skos:exactMatch NANDO:2200085 Diffuse astrocytoma semapv:MappingInversion -MONDO:0016684 anaplastic astrocytoma skos:exactMatch NANDO:2200086 Anaplastic astrocytoma semapv:MappingInversion -MONDO:0018177 glioblastoma skos:exactMatch NANDO:2200087 Glioblastoma semapv:MappingInversion -MONDO:0020690 adult glioblastoma skos:exactMatch NANDO:2200087 Glioblastoma semapv:MappingInversion -MONDO:0016698 ependymoma skos:exactMatch NANDO:2200088 Ependymoma semapv:MappingInversion -MONDO:0002540 childhood oligodendroglioma skos:exactMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion -MONDO:0002543 adult oligodendroglioma skos:exactMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion -MONDO:0016695 oligodendroglioma skos:exactMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion -MONDO:0002794 adult medulloblastoma skos:exactMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion -MONDO:0002797 childhood medulloblastoma skos:exactMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion -MONDO:0007959 medulloblastoma skos:exactMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion -MONDO:0018907 craniopharyngioma skos:exactMatch NANDO:2200091 Craniopharyngioma semapv:MappingInversion -MONDO:0016723 pineocytoma skos:exactMatch NANDO:2200092 Pineocytoma semapv:MappingInversion -MONDO:0009837 choroid plexus papilloma skos:exactMatch NANDO:2200093 Choroid plexus papilloma semapv:MappingInversion -MONDO:0003057 pediatric meningioma skos:exactMatch NANDO:2200094 Meningioma semapv:MappingInversion -MONDO:0016642 meningioma skos:exactMatch NANDO:2200094 Meningioma semapv:MappingInversion -MONDO:0006373 pituitary gland adenoma skos:exactMatch NANDO:2200095 Pituitary adenoma semapv:MappingInversion -MONDO:0016733 ganglioglioma skos:exactMatch NANDO:2200096 Ganglioglioma semapv:MappingInversion -MONDO:0016730 gangliocytoma skos:exactMatch NANDO:2200097 Gangliocytoma semapv:MappingInversion -MONDO:0008978 chordoma skos:exactMatch NANDO:2200098 Chordoma semapv:MappingInversion -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion -MONDO:0020560 atypical teratoid rhabdoid tumor skos:exactMatch NANDO:2200101 Atypical teratoid, rhabdoid tumour semapv:MappingInversion -MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch NANDO:2200102 Malignant neurinoma semapv:MappingInversion -MONDO:0002546 schwannoma skos:exactMatch NANDO:2200103 Neurinoma semapv:MappingInversion -MONDO:0002718 central nervous system teratoma skos:exactMatch NANDO:2200104 Teratoma of the central nervous system semapv:MappingInversion -MONDO:0003517 mature teratoma skos:exactMatch NANDO:2200105 Mature teratoma semapv:MappingInversion -MONDO:0024746 immature teratoma skos:exactMatch NANDO:2200106 Immature teratoma semapv:MappingInversion -MONDO:0006444 teratoma with malignant transformation skos:exactMatch NANDO:2200107 Teratoma with malignant transformation semapv:MappingInversion -MONDO:0004218 childhood germ cell brain tumor skos:exactMatch NANDO:2200108 Intracranial germ cell tumour semapv:MappingInversion -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch NANDO:2200110 Congenital nephrotic syndrome of the Finnish type semapv:MappingInversion -MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis skos:exactMatch NANDO:2200111 Diffuse mesangial sclerosis semapv:MappingInversion -MONDO:0006835 lipoid nephrosis skos:exactMatch NANDO:2200112 Minimal change nephrotic syndrome semapv:MappingInversion -MONDO:0005363 inherited focal segmental glomerulosclerosis skos:exactMatch NANDO:2200113 Focal segmental glomerulosclerosis semapv:MappingInversion -MONDO:0005376 membranous glomerulonephritis skos:exactMatch NANDO:2200114 Membranous nephropathy semapv:MappingInversion -MONDO:0008682 Denys-Drash syndrome skos:exactMatch NANDO:2200116 Denys-Drash syndrome semapv:MappingInversion -MONDO:0012184 Pierson syndrome skos:exactMatch NANDO:2200117 Pierson syndrome semapv:MappingInversion -MONDO:0020022 central nervous system malformation skos:exactMatch NANDO:2200118 Central nervous system malformation syndrome semapv:MappingInversion -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch NANDO:2200119 Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NANDO:2200120 Galloway-Mowat syndrome semapv:MappingInversion -MONDO:0005342 IgA glomerulonephritis skos:exactMatch NANDO:2200121 IgA nephropathy semapv:MappingInversion -MONDO:0003139 mesangial proliferative glomerulonephritis skos:exactMatch NANDO:2200122 Mesangial proliferative glomerulonephritis semapv:MappingInversion -MONDO:0002461 membranoproliferative glomerulonephritis skos:exactMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion -MONDO:0018904 primary membranoproliferative glomerulonephritis skos:exactMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion -MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NANDO:2200125 Goodpasture syndrome semapv:MappingInversion -MONDO:0018965 Alport syndrome skos:exactMatch NANDO:2200126 Alport syndrome semapv:MappingInversion -MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:2200127 Epstein syndrome semapv:MappingInversion -MONDO:0005556 lupus nephritis skos:exactMatch NANDO:2200128 Lupus nephritis semapv:MappingInversion -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:2200131 Atypical hemolytic uremic syndrome semapv:MappingInversion -MONDO:0008061 nail-patella syndrome skos:exactMatch NANDO:2200132 Nail-patella syndrome semapv:MappingInversion -MONDO:0007671 fibronectin glomerulopathy skos:exactMatch NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy semapv:MappingInversion -MONDO:0012725 lipoprotein glomerulopathy skos:exactMatch NANDO:2200134 Lipoprotein glomerulopathy semapv:MappingInversion -MONDO:0001085 interstitial nephritis skos:exactMatch NANDO:2200136 Tubulointerstitial nephritis semapv:MappingInversion -MONDO:0001110 chronic pyelonephritis skos:exactMatch NANDO:2200137 Chronic pyelonephritis semapv:MappingInversion -MONDO:0007099 familial visceral amyloidosis skos:exactMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion -MONDO:0019065 amyloidosis skos:exactMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch NANDO:2200139 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion -MONDO:0009728 nephronophthisis 1 skos:exactMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion -MONDO:0019005 nephronophthisis skos:exactMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion -MONDO:0001105 renal hypertension skos:exactMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion -MONDO:0006947 renovascular hypertension skos:exactMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion -MONDO:0001909 renal tubular acidosis skos:exactMatch NANDO:2200144 Renal tubular acidosis semapv:MappingInversion -MONDO:0009904 Gitelman syndrome skos:exactMatch NANDO:2200145 Gitelman syndrome semapv:MappingInversion -MONDO:0015231 Bartter syndrome skos:exactMatch NANDO:2200146 Bartter syndrome semapv:MappingInversion -MONDO:0020642 polycystic kidney disease skos:exactMatch NANDO:2200152 Polycystic kidney disease semapv:MappingInversion -MONDO:0004691 autosomal dominant polycystic kidney disease skos:exactMatch NANDO:2200153 Autosomal dominant polycystic kidney disease semapv:MappingInversion -MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch NANDO:2200154 Autosomal recessive polycystic kidney disease semapv:MappingInversion -MONDO:0019637 renal hypoplasia skos:exactMatch NANDO:2200155 Hypoplastic kidney semapv:MappingInversion -MONDO:0018470 renal agenesis skos:exactMatch NANDO:2200156 Renal aplasia semapv:MappingInversion -MONDO:0001558 Potter sequence skos:exactMatch NANDO:2200157 Potter syndrome semapv:MappingInversion -MONDO:0015988 multicystic dysplastic kidney skos:exactMatch NANDO:2200158 Multicystic dysplastic kidney semapv:MappingInversion -MONDO:0016407 oligomeganephronia skos:exactMatch NANDO:2200159 Oligomeganephronia semapv:MappingInversion -MONDO:0019638 renal dysplasia skos:exactMatch NANDO:2200161 Renal dysplasia semapv:MappingInversion -MONDO:0019005 nephronophthisis skos:exactMatch NANDO:2200170 Medullary cystic kidney semapv:MappingInversion -MONDO:0019983 multiloculated renal cyst skos:exactMatch NANDO:2200171 Multilocular cysts of the kidney semapv:MappingInversion -MONDO:0002473 cystic kidney disease skos:exactMatch NANDO:2200172 Simple renal cyst semapv:MappingInversion -MONDO:0015268 medullary sponge kidney skos:exactMatch NANDO:2200173 Medullary sponge kidney semapv:MappingInversion -MONDO:0007741 congenital hydronephrosis skos:exactMatch NANDO:2200176 Ureteropelvic junction obstruction semapv:MappingInversion -MONDO:0019639 congenital megacalycosis skos:exactMatch NANDO:2200177 Megacalycosis semapv:MappingInversion -MONDO:0003330 urinary tract obstruction skos:exactMatch NANDO:2200178 Obstructive uropathy semapv:MappingInversion -MONDO:0006007 vesicoureteral reflux skos:exactMatch NANDO:2200179 Vesicoureteral reflux semapv:MappingInversion -MONDO:0008628 ureterocele skos:exactMatch NANDO:2200183 Ureteroceles semapv:MappingInversion -MONDO:0018960 congenital primary megaureter skos:exactMatch NANDO:2200184 Megaureter semapv:MappingInversion -MONDO:0007032 prune belly syndrome skos:exactMatch NANDO:2200185 Prune belly syndrome semapv:MappingInversion -MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch NANDO:2200187 Fanconi syndrome semapv:MappingInversion -MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch NANDO:2200188 Lowe syndrome semapv:MappingInversion -MONDO:0007879 larynx atresia skos:exactMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion -MONDO:0015395 congenital subglottic stenosis skos:exactMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion -MONDO:0002568 tracheal stenosis skos:exactMatch NANDO:2200194 Tracheal stenosis semapv:MappingInversion -MONDO:0019804 tracheomalacia skos:exactMatch NANDO:2200195 Tracheomalacia semapv:MappingInversion -MONDO:0010940 inherited susceptibility to asthma skos:exactMatch NANDO:2200197 Bronchial asthma semapv:MappingInversion -MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:exactMatch NANDO:2200198 Congenital central hypoventilation syndrome semapv:MappingInversion -MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch NANDO:2200199 Idiopathic interstitial pneumonia semapv:MappingInversion -MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:exactMatch NANDO:2200200 Congenital alveolar proteinosis semapv:MappingInversion -MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch NANDO:2200202 Pulmonary alveolar microlithiasis semapv:MappingInversion -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NANDO:2200203 Primary ciliary dyskinesia semapv:MappingInversion -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch NANDO:2200204 Kartagener syndrome semapv:MappingInversion -MONDO:0009061 cystic fibrosis skos:exactMatch NANDO:2200205 Cystic fibrosis semapv:MappingInversion -MONDO:0004822 bronchiectasis skos:exactMatch NANDO:2200206 Bronchiectasis semapv:MappingInversion -MONDO:0008346 pulmonary hemosiderosis skos:exactMatch NANDO:2200207 Idiopathic pulmonary hemosiderosis semapv:MappingInversion -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NANDO:2200209 Bronchiolitis obliterans semapv:MappingInversion -MONDO:0005711 congenital diaphragmatic hernia skos:exactMatch NANDO:2200210 Congenital diaphragmatic hernia semapv:MappingInversion -MONDO:0001823 sick sinus syndrome skos:exactMatch NANDO:2200212 Sick sinus syndrome semapv:MappingInversion -MONDO:0001261 Mobitz type II atrioventricular block skos:exactMatch NANDO:2200213 Mobitz type II second degree atrioventricular block semapv:MappingInversion -MONDO:0000468 third-degree atrioventricular block skos:exactMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion -MONDO:0009326 congenital heart block skos:exactMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion -MONDO:0020803 obsolete bundle branch block skos:exactMatch NANDO:2200215 Bundle branch block semapv:MappingInversion -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch NANDO:2200216 Polymorphic ventricular premature beat semapv:MappingInversion -MONDO:0008685 Wolff-Parkinson-White syndrome skos:exactMatch NANDO:2200217 Supraventricular tachycardia due to WPW syndrome semapv:MappingInversion -MONDO:0005310 atrial flutter skos:exactMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion -MONDO:0005479 atrial tachycardia skos:exactMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion -MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia semapv:MappingInversion -MONDO:0005310 atrial flutter skos:exactMatch NANDO:2200225 Atrial flutter semapv:MappingInversion -MONDO:0004981 atrial fibrillation skos:exactMatch NANDO:2200226 Atrial fibrillation semapv:MappingInversion -MONDO:0000190 ventricular fibrillation skos:exactMatch NANDO:2200227 Ventricular fibrillation semapv:MappingInversion -MONDO:0002442 long QT syndrome skos:exactMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion -MONDO:0019171 familial long QT syndrome skos:exactMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:2200229 Hypertrophic cardiomyopathy semapv:MappingInversion -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion -MONDO:0018901 left ventricular noncompaction skos:exactMatch NANDO:2200231 Non-compaction of the ventricle semapv:MappingInversion -MONDO:0005021 dilated cardiomyopathy skos:exactMatch NANDO:2200232 Dilated cardiomyopathy semapv:MappingInversion -MONDO:0005201 restrictive cardiomyopathy skos:exactMatch NANDO:2200233 Restrictive cardiomyopathy semapv:MappingInversion -MONDO:0006779 heart aneurysm skos:exactMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion -MONDO:0015677 cardiac diverticulum skos:exactMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion -MONDO:0009169 endocardial fibroelastosis skos:exactMatch NANDO:2200235 Endocardial fibroelastosis semapv:MappingInversion -MONDO:0021209 heart neoplasm skos:exactMatch NANDO:2200236 Cardiac tumor semapv:MappingInversion -MONDO:0006711 constrictive pericarditis skos:exactMatch NANDO:2200239 Constrictive pericarditis semapv:MappingInversion -MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:exactMatch NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery semapv:MappingInversion -MONDO:0006715 coronary stenosis skos:exactMatch NANDO:2200246 Stenosis or atresia of coronary artery semapv:MappingInversion -MONDO:0005068 myocardial infarction skos:exactMatch NANDO:2200248 Myocardial infarction semapv:MappingInversion -MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch NANDO:2200249 Hypoplastic left heart syndrome semapv:MappingInversion -MONDO:0015451 univentricular heart skos:exactMatch NANDO:2200250 Single ventricle semapv:MappingInversion -MONDO:0011514 tricuspid atresia skos:exactMatch NANDO:2200251 Tricuspid atresia semapv:MappingInversion -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:exactMatch NANDO:2200252 Pulmonary atresia with ventricular septal defect semapv:MappingInversion -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:exactMatch NANDO:2200253 Pulmonary atresia with intact ventricular septum semapv:MappingInversion -MONDO:0008542 tetralogy of fallot skos:exactMatch NANDO:2200254 Tetralogy of Fallot semapv:MappingInversion -MONDO:0018089 double outlet right ventricle skos:exactMatch NANDO:2200256 Double outlet right ventricle semapv:MappingInversion -MONDO:0018090 double outlet left ventricle skos:exactMatch NANDO:2200257 Double-outlet left ventricle semapv:MappingInversion -MONDO:0000153 transposition of the great arteries skos:exactMatch NANDO:2200258 Complete transposition of the great arteries semapv:MappingInversion -MONDO:0016301 congenitally corrected transposition of the great arteries skos:exactMatch NANDO:2200259 Congenitally corrected transposition of the great arteries semapv:MappingInversion -MONDO:0009144 Ebstein anomaly skos:exactMatch NANDO:2200260 Ebstein's anomaly semapv:MappingInversion -MONDO:0018072 persistent truncus arteriosus skos:exactMatch NANDO:2200261 Truncus arteriosus communis semapv:MappingInversion -MONDO:0021902 aortopulmonary window skos:exactMatch NANDO:2200262 Aorto-pulmonary window semapv:MappingInversion -MONDO:0015450 triatrial heart skos:exactMatch NANDO:2200263 Cor triatriatum semapv:MappingInversion -MONDO:0011827 patent ductus arteriosus skos:exactMatch NANDO:2200264 Patent ductus arteriosus semapv:MappingInversion -MONDO:0020434 atrial septal defect, ostium secundum type skos:exactMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion -MONDO:0020439 patent foramen ovale skos:exactMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion -MONDO:0020436 atrial septal defect, sinus venosus type skos:exactMatch NANDO:2200267 Atrial septal defect, sinus venosus type semapv:MappingInversion -MONDO:0015275 partial atrioventricular canal skos:exactMatch NANDO:2200268 Incomplete atrioventricular septal defect semapv:MappingInversion -MONDO:0015273 complete atrioventricular canal skos:exactMatch NANDO:2200269 Complete atrioventricular septal defect semapv:MappingInversion -MONDO:0002070 ventricular septal defect skos:exactMatch NANDO:2200270 Ventricular septal defect semapv:MappingInversion -MONDO:0007130 congenital total pulmonary venous return anomaly skos:exactMatch NANDO:2200271 Total anomalous pulmonary venous connection semapv:MappingInversion -MONDO:0020453 congenital partial pulmonary venous return anomaly skos:exactMatch NANDO:2200272 Partial anomalous pulmonary venous connection semapv:MappingInversion -MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:exactMatch NANDO:2200273 Pulmonary venous obstruction semapv:MappingInversion -MONDO:0020428 congenital Gerbode defect skos:exactMatch NANDO:2200274 Left ventricular-right atrial communication semapv:MappingInversion -MONDO:0016581 conotruncal heart malformations skos:exactMatch NANDO:2200275 Double-chambered right ventricle semapv:MappingInversion -MONDO:0006935 pulmonary subvalvular stenosis skos:exactMatch NANDO:2200276 Subvalvular pulmonary stenosis semapv:MappingInversion -MONDO:0006987 subvalvular aortic stenosis skos:exactMatch NANDO:2200277 Subvalvular aortic stenosis semapv:MappingInversion -MONDO:0017870 supravalvular pulmonary stenosis skos:exactMatch NANDO:2200278 Supravalvular pulmonary stenosis semapv:MappingInversion -MONDO:0020064 pulmonary valve agenesis skos:exactMatch NANDO:2200280 Absent pulmonary valve semapv:MappingInversion -MONDO:0020391 pulmonary artery coming from the aorta skos:exactMatch NANDO:2200281 Origin of pulmonary artery from ascending aorta semapv:MappingInversion -MONDO:0020007 absence of the pulmonary artery skos:exactMatch NANDO:2200282 Unilateral absence of a pulmonary artery semapv:MappingInversion -MONDO:0007345 aorta coarctation skos:exactMatch NANDO:2200283 Coarctation of the aorta semapv:MappingInversion -MONDO:0007345 aorta coarctation skos:exactMatch NANDO:2200284 Coarctation complex semapv:MappingInversion -MONDO:0015446 atypical coarctation of aorta skos:exactMatch NANDO:2200284 Coarctation complex semapv:MappingInversion -MONDO:0008504 supravalvular aortic stenosis skos:exactMatch NANDO:2200285 Supravalvular aortic stenosis semapv:MappingInversion -MONDO:0008678 Williams syndrome skos:exactMatch NANDO:2200286 Williams syndrome semapv:MappingInversion -MONDO:0009010 aortic arch interruption skos:exactMatch NANDO:2200288 Interruption of aortic arch complex semapv:MappingInversion -MONDO:0020413 encircling double aortic arch skos:exactMatch NANDO:2200290 Double aortic arch disease semapv:MappingInversion -MONDO:0015197 aneurysm of sinus of Valsalva skos:exactMatch NANDO:2200293 Aneurysm of sinus valsalva semapv:MappingInversion -MONDO:0005160 aortic aneurysm skos:exactMatch NANDO:2200294 Aortic aneurysm semapv:MappingInversion -MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:exactMatch NANDO:2200295 Pulmonary arteriovenous fistulae semapv:MappingInversion -MONDO:0016081 coronary arterial fistulas skos:exactMatch NANDO:2200296 Coronary artery fistula semapv:MappingInversion -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NANDO:2200298 Pulmonary arterial hypertension semapv:MappingInversion -MONDO:0001493 chronic pulmonary heart disease skos:exactMatch NANDO:2200299 Chronic cor pulmonale semapv:MappingInversion -MONDO:0005997 tricuspid valve stenosis skos:exactMatch NANDO:2200300 Tricuspid valve stenosis semapv:MappingInversion -MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NANDO:2200301 Tricuspid valve regurgitation semapv:MappingInversion -MONDO:0005852 mitral valve stenosis skos:exactMatch NANDO:2200302 Mitral valve stenosis semapv:MappingInversion -MONDO:0001298 congenital mitral valve insufficiency skos:exactMatch NANDO:2200303 Mitral regurgitation semapv:MappingInversion -MONDO:0006936 pulmonary valve stenosis skos:exactMatch NANDO:2200304 Pulmonary valve stenosis semapv:MappingInversion -MONDO:0001927 pulmonary valve insufficiency skos:exactMatch NANDO:2200305 Pulmonary valve regurgitation semapv:MappingInversion -MONDO:0042981 aortic valve stenosis skos:exactMatch NANDO:2200306 Aortic valve stenosis semapv:MappingInversion -MONDO:0005648 aortic valve insufficiency skos:exactMatch NANDO:2200307 Aortic valve regurgitation semapv:MappingInversion -MONDO:0020400 congenital supravalvular mitral ring skos:exactMatch NANDO:2200308 Supramitral ring semapv:MappingInversion -MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:exactMatch NANDO:2200312 Congenital hypopituitarism semapv:MappingInversion -MONDO:0019832 acquired pituitary hormone deficiency skos:exactMatch NANDO:2200313 Acquired hypopituitarism semapv:MappingInversion -MONDO:0020479 pituitary gigantism skos:exactMatch NANDO:2200314 Pituitary gigantism semapv:MappingInversion -MONDO:0019933 acromegaly skos:exactMatch NANDO:2200315 Acromegaly semapv:MappingInversion -MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:exactMatch NANDO:2200320 IGF1 insensitivity semapv:MappingInversion -MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch NANDO:2200321 Growth hormone insensitivity semapv:MappingInversion -MONDO:0005804 hyperprolactinemia skos:exactMatch NANDO:2200322 Hyperprolactinemia semapv:MappingInversion -MONDO:0006802 inappropriate ADH syndrome skos:exactMatch NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion -MONDO:0015790 central diabetes insipidus skos:exactMatch NANDO:2200324 Central diabetes insipidus semapv:MappingInversion -MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:exactMatch NANDO:2200325 Adipsic hypernatremia semapv:MappingInversion -MONDO:0016383 nephrogenic diabetes insipidus skos:exactMatch NANDO:2200326 Nephrogenic diabetes insipidus semapv:MappingInversion -MONDO:0005364 Graves disease skos:exactMatch NANDO:2200328 Basedow disease semapv:MappingInversion -MONDO:0004425 hyperthyroidism skos:exactMatch NANDO:2200329 Hyperthyroidism semapv:MappingInversion -MONDO:0019854 thyroid ectopia skos:exactMatch NANDO:2200330 Ectoic thyroid semapv:MappingInversion -MONDO:0019855 athyreosis skos:exactMatch NANDO:2200331 Thyroid agenesis semapv:MappingInversion -MONDO:0016410 central congenital hypothyroidism skos:exactMatch NANDO:2200332 Thyroid-stimulating hormone deficiency semapv:MappingInversion -MONDO:0018612 congenital hypothyroidism skos:exactMatch NANDO:2200333 Congenital hypothyroidism semapv:MappingInversion -MONDO:0007699 Hashimoto thyroiditis skos:exactMatch NANDO:2200335 Hashimoto disease semapv:MappingInversion -MONDO:0005624 atrophic thyroiditis skos:exactMatch NANDO:2200336 Atrophic thyroiditis semapv:MappingInversion -MONDO:0016410 central congenital hypothyroidism skos:exactMatch NANDO:2200340 Central hypothyroidism semapv:MappingInversion -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:exactMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion -MONDO:0001741 hyperparathyroidism skos:exactMatch NANDO:2200343 Hyperparathyroidism semapv:MappingInversion -MONDO:0001220 hypoparathyroidism skos:exactMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion -MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:exactMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch NANDO:2200346 Autoimmune polyendocrinopathy type 1 semapv:MappingInversion -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:exactMatch NANDO:2200347 Autoimmune polyendocrinopathy type 2 semapv:MappingInversion -MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NANDO:2200348 Pseudopseudohypoparathyroidism semapv:MappingInversion -MONDO:0019992 pseudohypoparathyroidism skos:exactMatch NANDO:2200349 Pseudohypoparathyroidism semapv:MappingInversion -MONDO:0009050 Cushing disease due to pituitary adenoma skos:exactMatch NANDO:2200350 Cushing disease semapv:MappingInversion -MONDO:0043472 ectopic ACTH secretion syndrome skos:exactMatch NANDO:2200351 Ectopic ACTH syndrome semapv:MappingInversion -MONDO:0003924 adrenal cortex adenoma skos:exactMatch NANDO:2200352 Adrenal adenoma semapv:MappingInversion -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia semapv:MappingInversion -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion -MONDO:0014421 glucocorticoid resistance skos:exactMatch NANDO:2200358 Glucocorticoid resistance semapv:MappingInversion -MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion -MONDO:0009410 obsolete Addison disease skos:exactMatch NANDO:2200360 Addison's disease semapv:MappingInversion -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch NANDO:2200360 Addison's disease semapv:MappingInversion -MONDO:0001422 primary aldosteronism skos:exactMatch NANDO:2200361 Aldosteronism semapv:MappingInversion -MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:exactMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion -MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion -MONDO:0008323 Liddle syndrome skos:exactMatch NANDO:2200363 Liddle syndrome semapv:MappingInversion -MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch NANDO:2200365 Aldosterone synthase deficiency semapv:MappingInversion -MONDO:0018638 pseudohypoaldosteronism skos:exactMatch NANDO:2200367 Pseudohypoaldosteronism semapv:MappingInversion -MONDO:0019161 pseudohypoaldosteronism type 1 skos:exactMatch NANDO:2200368 Pseudohypoaldosteronism type I semapv:MappingInversion -MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch NANDO:2200369 Pseudohypoaldosteronism type II semapv:MappingInversion -MONDO:0018479 congenital adrenal hyperplasia skos:exactMatch NANDO:2200370 Congenital lipoid adrenal hyperplasia semapv:MappingInversion -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:exactMatch NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:exactMatch NANDO:2200372 11-β-Hydroxylase deficiency semapv:MappingInversion -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:exactMatch NANDO:2200373 17 alpha-hydroxylase deficiency semapv:MappingInversion -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:exactMatch NANDO:2200374 21-Hydroxylase deficiency semapv:MappingInversion -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:exactMatch NANDO:2200375 P450 oxidoreductase deficiency semapv:MappingInversion -MONDO:0019165 central precocious puberty skos:exactMatch NANDO:2200377 Gonadotropin-dependent precocious puberty semapv:MappingInversion -MONDO:0015791 peripheral precocious puberty skos:exactMatch NANDO:2200378 Non-gonadotropin-dependent precocious puberty semapv:MappingInversion -MONDO:0001946 obsolete hyperestrogenism skos:exactMatch NANDO:2200379 Hyperestrogenism semapv:MappingInversion -MONDO:0001324 obsolete hyperandrogenism skos:exactMatch NANDO:2200380 Hyperandrogenism semapv:MappingInversion -MONDO:0018800 Kallmann syndrome skos:exactMatch NANDO:2200381 Kallmann syndrome semapv:MappingInversion -MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch NANDO:2200382 Hypogonadotropic hypogonadism semapv:MappingInversion -MONDO:0005437 testicular dysgenesis syndrome skos:exactMatch NANDO:2200383 Testicular dysgenesis semapv:MappingInversion -MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch NANDO:2200384 Ovarian dysgenesis semapv:MappingInversion -MONDO:0006823 Klinefelter syndrome skos:exactMatch NANDO:2200386 Klinefelter syndrome semapv:MappingInversion -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch NANDO:2200387 Ovotesticular dsd semapv:MappingInversion -MONDO:0001969 mixed gonadal dysgenesis skos:exactMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion -MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:exactMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:exactMatch NANDO:2200389 5 alpha-reductase deficiency semapv:MappingInversion -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion -MONDO:0019154 androgen insensitivity syndrome skos:exactMatch NANDO:2200391 Androgen insensitivity syndrome semapv:MappingInversion -MONDO:0020040 46,XY disorder of sex development skos:exactMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion -MONDO:0019960 VIPoma skos:exactMatch NANDO:2200394 Vipoma semapv:MappingInversion -MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch NANDO:2200395 Gastrinoma semapv:MappingInversion -MONDO:0005369 carcinoid tumor skos:exactMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion -MONDO:0006689 obsolete carcinoid syndrome skos:exactMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion -MONDO:0019959 glucagonoma skos:exactMatch NANDO:2200397 Glucagonoma semapv:MappingInversion -MONDO:0024677 pancreatic insulinoma skos:exactMatch NANDO:2200398 Insulinoma semapv:MappingInversion -MONDO:0005803 hyperinsulinemic hypoglycemia skos:exactMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion -MONDO:0017182 familial hyperinsulinism skos:exactMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion -MONDO:0024299 vitamin D-dependent rickets skos:exactMatch NANDO:2200401 Vitamin D-dependent rickets semapv:MappingInversion -MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:2200402 Vitamin D-resistant osteomalacia semapv:MappingInversion -MONDO:0024300 hypophosphatemic rickets skos:exactMatch NANDO:2200403 Primary hypophosphatemic rickets semapv:MappingInversion -MONDO:0006573 lipodystrophy skos:exactMatch NANDO:2200404 Lipodystrophy semapv:MappingInversion -MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch NANDO:2200405 Multiple endocrine neoplasia type 1 semapv:MappingInversion -MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion -MONDO:0019003 multiple endocrine neoplasia type 2 skos:exactMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion -MONDO:0008667 von Hippel-Lindau disease skos:exactMatch NANDO:2200408 Von Hippel-Lindau disease semapv:MappingInversion -MONDO:0008487 polycystic ovary syndrome skos:exactMatch NANDO:2200409 Polycystic ovary syndrome semapv:MappingInversion -MONDO:0019499 Turner syndrome skos:exactMatch NANDO:2200410 Turner syndrome semapv:MappingInversion -MONDO:0008300 Prader-Willi syndrome skos:exactMatch NANDO:2200411 Prader-Willi syndrome semapv:MappingInversion -MONDO:0018919 McCune-Albright syndrome skos:exactMatch NANDO:2200412 McCune-Albright syndrome semapv:MappingInversion -MONDO:0018997 Noonan syndrome skos:exactMatch NANDO:2200413 Noonan syndrome semapv:MappingInversion -MONDO:0015229 Bardet-Biedl syndrome skos:exactMatch NANDO:2200414 Bardet-Biedl syndrome semapv:MappingInversion -MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NANDO:2200415 Juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0007915 systemic lupus erythematosus skos:exactMatch NANDO:2200416 Systemic lupus erythematosus semapv:MappingInversion -MONDO:0008054 juvenile dermatomyositis skos:exactMatch NANDO:2200418 Juvenile dermatomyositis semapv:MappingInversion -MONDO:0019734 juvenile polymyositis skos:exactMatch NANDO:2200419 Juvenile polymyositis semapv:MappingInversion -MONDO:0010030 Sjogren syndrome skos:exactMatch NANDO:2200420 Sjogren's syndrome semapv:MappingInversion -MONDO:0007140 obsolete antiphospholipid syndrome skos:exactMatch NANDO:2200421 Anti-phospholipid antibody syndrome semapv:MappingInversion -MONDO:0007191 Behcet disease skos:exactMatch NANDO:2200422 Behcet's disease semapv:MappingInversion -MONDO:0006656 aortitis skos:exactMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion -MONDO:0017991 Takayasu arteritis skos:exactMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion -MONDO:0012105 granulomatosis with polyangiitis skos:exactMatch NANDO:2200424 Granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0019170 polyarteritis nodosa skos:exactMatch NANDO:2200425 Polyangiitis nodosa semapv:MappingInversion -MONDO:0019124 microscopic polyangiitis skos:exactMatch NANDO:2200426 Microscopic polyangiitis semapv:MappingInversion -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:exactMatch NANDO:2200427 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion -MONDO:0019125 relapsing polychondritis skos:exactMatch NANDO:2200428 Relapsing polychondritis semapv:MappingInversion -MONDO:0005100 systemic sclerosis skos:exactMatch NANDO:2200429 Systemic sclerosis semapv:MappingInversion -MONDO:0005854 mixed connective tissue disease skos:exactMatch NANDO:2200430 Mixed connective tissue disease semapv:MappingInversion -MONDO:0018088 familial Mediterranean fever skos:exactMatch NANDO:2200431 Familial Mediterranean fever semapv:MappingInversion -MONDO:0016168 cryopyrin-associated periodic syndrome skos:exactMatch NANDO:2200432 Cryopyrin-associated periodic syndrome semapv:MappingInversion -MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch NANDO:2200433 TNF receptor-associated periodic fever syndrome semapv:MappingInversion -MONDO:0008523 Blau syndrome skos:exactMatch NANDO:2200434 Blau syndrome, early onset sarcoidosis semapv:MappingInversion -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch NANDO:2200435 Nakajo-Nishimura syndrome semapv:MappingInversion -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion -MONDO:0017708 mevalonate kinase deficiency skos:exactMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion -MONDO:0004471 bacterial arthritis skos:exactMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion -MONDO:0018824 pyoderma gangrenosum skos:exactMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch NANDO:2200438 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:exactMatch NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist semapv:MappingInversion -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NANDO:2200441 Adenosine deaminase 2 deficiency semapv:MappingInversion -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion -MONDO:0011269 psoriasis 2 skos:exactMatch NANDO:2200443 CARD14 deficiency semapv:MappingInversion -MONDO:0007315 cherubism skos:exactMatch NANDO:2200444 Cherubism semapv:MappingInversion -MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:exactMatch NANDO:2200446 IL10 deficiency semapv:MappingInversion -MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch NANDO:2200447 IL-10RA deficiency semapv:MappingInversion -MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch NANDO:2200448 IL-10RB deficiency semapv:MappingInversion -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion -MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NANDO:2200450 Deficiency of the enzyme ADA2 semapv:MappingInversion -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch NANDO:2200451 PLCg2 deficiency semapv:MappingInversion -MONDO:0013626 psoriasis 14, pustular skos:exactMatch NANDO:2200452 IL36RN deficiency semapv:MappingInversion -MONDO:0012316 Majeed syndrome skos:exactMatch NANDO:2200453 Majeed syndrome semapv:MappingInversion -MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:exactMatch NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion -MONDO:0018348 obsolete polyglucosan body myopathy type 1 skos:exactMatch NANDO:2200456 RBCK1 deficiency semapv:MappingInversion -MONDO:0011273 H syndrome skos:exactMatch NANDO:2200457 SLC29A3 deficiency semapv:MappingInversion -MONDO:0100222 A20 haploinsufficiency skos:exactMatch NANDO:2200458 A20 haploinsufficiency semapv:MappingInversion -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:exactMatch NANDO:2200459 NLRC4 mutation semapv:MappingInversion -MONDO:0005147 type 1 diabetes mellitus skos:exactMatch NANDO:2200460 Diabetes mellitus type 1 semapv:MappingInversion -MONDO:0005148 type 2 diabetes mellitus skos:exactMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion -MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion -MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch NANDO:2200462 Maturity-onset diabetes of the young semapv:MappingInversion -MONDO:0016391 neonatal diabetes mellitus skos:exactMatch NANDO:2200463 Neonatal diabetes mellitus semapv:MappingInversion -MONDO:0005827 lipoatrophic diabetes skos:exactMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:exactMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion -MONDO:0009861 phenylketonuria skos:exactMatch NANDO:2200467 Phenylketonuria semapv:MappingInversion -MONDO:0010161 tyrosinemia type I skos:exactMatch NANDO:2200468 Tyrosinemia type 1 semapv:MappingInversion -MONDO:0010160 tyrosinemia type II skos:exactMatch NANDO:2200469 Tyrosinemia type 2 semapv:MappingInversion -MONDO:0010162 tyrosinemia type III skos:exactMatch NANDO:2200470 Tyrosinemia type 3 semapv:MappingInversion -MONDO:0023419 hyperprolinemia skos:exactMatch NANDO:2200471 Hyperprolinemia semapv:MappingInversion -MONDO:0008221 prolidase deficiency skos:exactMatch NANDO:2200472 Prolidase deficiency semapv:MappingInversion -MONDO:0009563 maple syrup urine disease skos:exactMatch NANDO:2200473 Maple syrup urine disease semapv:MappingInversion -MONDO:0004737 homocystinuria skos:exactMatch NANDO:2200474 Homocystinuria semapv:MappingInversion -MONDO:0000351 disorder of methionine catabolism skos:exactMatch NANDO:2200475 Hypermethioninemia semapv:MappingInversion -MONDO:0011612 glycine encephalopathy skos:exactMatch NANDO:2200476 Nonketotic hyperglycinemia semapv:MappingInversion -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NANDO:2200477 N-acetylglutamate synthetase deficiency semapv:MappingInversion -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch NANDO:2200478 Carbamoylphosphate synthetase deficiency semapv:MappingInversion -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:exactMatch NANDO:2200479 Ornithine transcarbamylase deficiency semapv:MappingInversion -MONDO:0008988 citrullinemia type I skos:exactMatch NANDO:2200480 Argininosuccinate synthetase deficiency semapv:MappingInversion -MONDO:0008815 argininosuccinic aciduria skos:exactMatch NANDO:2200481 Argininosuccinic aciduria semapv:MappingInversion -MONDO:0008814 hyperargininemia skos:exactMatch NANDO:2200482 Hyperargininemia semapv:MappingInversion -MONDO:0016602 citrin deficiency skos:exactMatch NANDO:2200483 Citrin deficiency semapv:MappingInversion -MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch NANDO:2200484 Hyperornithinemia semapv:MappingInversion -MONDO:0009393 ornithine translocase deficiency skos:exactMatch NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:MappingInversion -MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch NANDO:2200486 Gyrate atrophy of choroid and retina semapv:MappingInversion -MONDO:0009324 Hartnup disease skos:exactMatch NANDO:2200487 Hartnup disease semapv:MappingInversion -MONDO:0009109 lysinuric protein intolerance skos:exactMatch NANDO:2200488 Lysinuric protein intolerance semapv:MappingInversion -MONDO:0009067 cystinuria skos:exactMatch NANDO:2200489 Cystinuria semapv:MappingInversion -MONDO:0002012 methylmalonic acidemia skos:exactMatch NANDO:2200491 Methylmalonic acidemia semapv:MappingInversion -MONDO:0011628 propionic acidemia skos:exactMatch NANDO:2200492 Propionic acidemia semapv:MappingInversion -MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch NANDO:2200493 Beta-ketothiolase deficiency semapv:MappingInversion -MONDO:0009475 isovaleric acidemia skos:exactMatch NANDO:2200494 Isovaleric acidemia semapv:MappingInversion -MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency semapv:MappingInversion -MONDO:0017359 3-methylglutaconic aciduria skos:exactMatch NANDO:2200496 Methylglutaconic aciduria semapv:MappingInversion -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch NANDO:2200497 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:MappingInversion -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:exactMatch NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:MappingInversion -MONDO:0015454 multiple carboxylase deficiency skos:exactMatch NANDO:2200500 Multiple carboxylase deficiency semapv:MappingInversion -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200501 Glutaric acidemia type 1 semapv:MappingInversion -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200502 Glutaric acidemia type 2 semapv:MappingInversion -MONDO:0002474 primary hyperoxaluria skos:exactMatch NANDO:2200503 Primary hyperoxaluria semapv:MappingInversion -MONDO:0008753 alkaptonuria skos:exactMatch NANDO:2200504 Alkaptonuria semapv:MappingInversion -MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch NANDO:2200505 Glycerol kinase deficiency semapv:MappingInversion -MONDO:0019218 inborn disorder of bile acid synthesis skos:exactMatch NANDO:2200506 Inborn errors of bile acid metabolism semapv:MappingInversion -MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch NANDO:2200508 Organic cation transporter 2 deficiency semapv:MappingInversion -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch NANDO:2200509 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:2200510 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch NANDO:2200511 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NANDO:2200515 Trifunctional protein deficiency semapv:MappingInversion -MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch NANDO:2200518 Pyruvate dehydrogenase complex deficiency semapv:MappingInversion -MONDO:0009949 pyruvate carboxylase deficiency disease skos:exactMatch NANDO:2200519 Pyruvate carboxylase deficiency semapv:MappingInversion -MONDO:0011730 fumaric aciduria skos:exactMatch NANDO:2200520 Fumarase deficiency semapv:MappingInversion -MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch NANDO:2200522 Mitochondrial respiratory chain disorders semapv:MappingInversion -MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch NANDO:2200523 Mitochondrial DNA depletion syndrome semapv:MappingInversion -MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch NANDO:2200524 Diseases due to mitochondrial DNA mutation semapv:MappingInversion -MONDO:0010789 MELAS syndrome skos:exactMatch NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) semapv:MappingInversion -MONDO:0010790 MERRF syndrome skos:exactMatch NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion -MONDO:0009723 Leigh syndrome skos:exactMatch NANDO:2200527 Leigh syndrome semapv:MappingInversion -MONDO:0018158 mitochondrial DNA depletion syndrome skos:exactMatch NANDO:2200528 Diseases due to mitochondrial DNA deletion semapv:MappingInversion -MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch NANDO:2200529 Kearns-Sayre syndrome semapv:MappingInversion -MONDO:0009249 hereditary fructose intolerance skos:exactMatch NANDO:2200531 Hereditary fructose intolerance semapv:MappingInversion -MONDO:0009258 classic galactosemia skos:exactMatch NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion -MONDO:0009255 galactokinase deficiency skos:exactMatch NANDO:2200533 Galactokinase deficiency semapv:MappingInversion -MONDO:0009257 galactose epimerase deficiency skos:exactMatch NANDO:2200534 UDP-galactose-4-epimerase deficiency semapv:MappingInversion -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch NANDO:2200535 Fructose-1,6-bisphosphatase deficiency semapv:MappingInversion -MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:exactMatch NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency semapv:MappingInversion -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:2200537 Glycogen synthase deficiency semapv:MappingInversion -MONDO:0002413 glycogen storage disease I skos:exactMatch NANDO:2200538 Glycogen storage disease type I semapv:MappingInversion -MONDO:0009291 glycogen storage disease III skos:exactMatch NANDO:2200539 Glycogen storage disease type III semapv:MappingInversion -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch NANDO:2200540 Glycogen storage disease type IV semapv:MappingInversion -MONDO:0009293 glycogen storage disease V skos:exactMatch NANDO:2200541 Glycogen storage disease type V semapv:MappingInversion -MONDO:0009294 glycogen storage disease VI skos:exactMatch NANDO:2200542 Glycogen storage disease type VI semapv:MappingInversion -MONDO:0009295 glycogen storage disease VII skos:exactMatch NANDO:2200543 Glycogen storage disease type VII semapv:MappingInversion -MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch NANDO:2200544 Glycogen storage disease type IX semapv:MappingInversion -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NANDO:2200545 Glucose transporter 1 deficiency semapv:MappingInversion -MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch NANDO:2200547 Mucopolysaccharidosis type I semapv:MappingInversion -MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch NANDO:2200548 Mucopolysaccharidosis type II semapv:MappingInversion -MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch NANDO:2200549 Mucopolysaccharidosis type III semapv:MappingInversion -MONDO:0018938 mucopolysaccharidosis type 4 skos:exactMatch NANDO:2200550 Mucopolysaccharidosis type IV semapv:MappingInversion -MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch NANDO:2200551 Mucopolysaccharidosis type VI semapv:MappingInversion -MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch NANDO:2200552 Mucopolysaccharidosis type VII semapv:MappingInversion -MONDO:0009254 fucosidosis skos:exactMatch NANDO:2200553 Fucosidosis semapv:MappingInversion -MONDO:0008830 aspartylglucosaminuria skos:exactMatch NANDO:2200555 Aspartylglucosaminuria semapv:MappingInversion -MONDO:0017734 sialidosis skos:exactMatch NANDO:2200556 Sialidosis semapv:MappingInversion -MONDO:0009737 galactosialidosis skos:exactMatch NANDO:2200557 Galactosialidosis semapv:MappingInversion -MONDO:0018149 GM1 gangliosidosis skos:exactMatch NANDO:2200558 GM1 Gangliosidosis semapv:MappingInversion -MONDO:0017720 GM2 gangliosidosis skos:exactMatch NANDO:2200559 GM2 gangliosidosis semapv:MappingInversion -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch NANDO:2200560 Metachromatic leukodystrophy semapv:MappingInversion -MONDO:0001982 Niemann-Pick disease skos:exactMatch NANDO:2200561 Niemann-Pick disease semapv:MappingInversion -MONDO:0018150 Gaucher disease skos:exactMatch NANDO:2200562 Gaucher disease semapv:MappingInversion -MONDO:0010526 Fabry disease skos:exactMatch NANDO:2200563 Fabry disease semapv:MappingInversion -MONDO:0009499 Krabbe disease skos:exactMatch NANDO:2200564 Krabbe disease semapv:MappingInversion -MONDO:0009218 Farber lipogranulomatosis skos:exactMatch NANDO:2200565 Farber disease semapv:MappingInversion -MONDO:0010088 mucosulfatidosis skos:exactMatch NANDO:2200566 Multiple sulfatase deficiency semapv:MappingInversion -MONDO:0009650 mucolipidosis type II skos:exactMatch NANDO:2200567 Mucolipidosis II semapv:MappingInversion -MONDO:0018931 mucolipidosis type III, alpha/beta skos:exactMatch NANDO:2200568 Mucolipidosis III semapv:MappingInversion -MONDO:0009290 glycogen storage disease II skos:exactMatch NANDO:2200569 Pompe disease semapv:MappingInversion -MONDO:0019148 Wolman disease skos:exactMatch NANDO:2200570 Acid lipase deficiency semapv:MappingInversion -MONDO:0016239 cystinosis skos:exactMatch NANDO:2200571 Cystinosis semapv:MappingInversion -MONDO:0019366 free sialic acid storage disease skos:exactMatch NANDO:2200572 Free Sialic Acid Storage Disease semapv:MappingInversion -MONDO:0016295 neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2200573 Neuronal ceroid lipofuscinoses semapv:MappingInversion -MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch NANDO:2200575 Peroxisome biogenesis disorders semapv:MappingInversion -MONDO:0018544 adrenoleukodystrophy skos:exactMatch NANDO:2200576 Adrenoleukodystrophy semapv:MappingInversion -MONDO:0009958 adult Refsum disease skos:exactMatch NANDO:2200577 Refsum disease semapv:MappingInversion -MONDO:0010200 Wilson disease skos:exactMatch NANDO:2200579 Wilson disease semapv:MappingInversion -MONDO:0010651 Menkes disease skos:exactMatch NANDO:2200580 Menkes disease semapv:MappingInversion -MONDO:0010572 occipital horn syndrome skos:exactMatch NANDO:2200581 Occipital horn syndrome semapv:MappingInversion -MONDO:0011426 aceruloplasminemia skos:exactMatch NANDO:2200582 Aceruloplasminemia semapv:MappingInversion -MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch NANDO:2200583 Sulfite oxidase deficiency semapv:MappingInversion -MONDO:0008713 acrodermatitis enteropathica skos:exactMatch NANDO:2200584 Acrodermatitis enteropathica semapv:MappingInversion -MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:exactMatch NANDO:2200587 Adenine phosphoribosyltransferase deficiency semapv:MappingInversion -MONDO:0000721 xanthinuria skos:exactMatch NANDO:2200588 Xanthinuria semapv:MappingInversion -MONDO:0009797 orotic aciduria skos:exactMatch NANDO:2200590 Orotic aciduria semapv:MappingInversion -MONDO:0009238 hereditary folate malabsorption skos:exactMatch NANDO:2200592 Hereditary folate malabsorption semapv:MappingInversion -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch NANDO:2200594 Tetrahydrobiopterin deficiency semapv:MappingInversion -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch NANDO:2200595 Tyrosine hydroxylase deficiency semapv:MappingInversion -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion -MONDO:0009123 orthostatic hypotension 1 skos:exactMatch NANDO:2200597 Dopamine beta hydroxylase deficiency semapv:MappingInversion -MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency semapv:MappingInversion -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency semapv:MappingInversion -MONDO:0005439 familial hypercholesterolemia skos:exactMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion -MONDO:0007750 hypercholesterolemia, familial, 1 skos:exactMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion -MONDO:0016525 familial hyperaldosteronism skos:exactMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion -MONDO:0001336 familial hyperlipidemia skos:exactMatch NANDO:2200603 Familial combined hyperlipidemia semapv:MappingInversion -MONDO:0008692 abetalipoproteinemia skos:exactMatch NANDO:2200604 Abetalipoproteinemia semapv:MappingInversion -MONDO:0017773 hypoalphalipoproteinemia skos:exactMatch NANDO:2200605 HDL deficiency semapv:MappingInversion -MONDO:0100189 apolipoprotein A-I deficiency skos:exactMatch NANDO:2200605 HDL deficiency semapv:MappingInversion -MONDO:0020066 Ehlers-Danlos syndrome skos:exactMatch NANDO:2200607 Ehlers-Danlos syndrome semapv:MappingInversion -MONDO:0009530 lipoid proteinosis skos:exactMatch NANDO:2200608 Lipoid proteinosis semapv:MappingInversion -MONDO:0019142 inherited porphyria skos:exactMatch NANDO:2200610 Congenital porphyria semapv:MappingInversion -MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch NANDO:2200611 Alpha-1-antitrypsin deficiency semapv:MappingInversion -MONDO:0001700 megaloblastic anemia skos:exactMatch NANDO:2200612 Megaloblastic anemia semapv:MappingInversion -MONDO:0020338 adult pure red cell aplasia skos:exactMatch NANDO:2200613 Acquired pure red cell aplasia semapv:MappingInversion -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch NANDO:2200614 Congenital red cell aplasia semapv:MappingInversion -MONDO:0019403 congenital dyserythropoietic anemia skos:exactMatch NANDO:2200615 Congenital dyserythropoietic anemia semapv:MappingInversion -MONDO:0015194 sideroblastic anemia skos:exactMatch NANDO:2200616 Sideroblastic anemia semapv:MappingInversion -MONDO:0008846 atransferrinemia skos:exactMatch NANDO:2200617 Congenital atransferrinemia semapv:MappingInversion -MONDO:0018922 cold agglutinin disease skos:exactMatch NANDO:2200618 Cold agglutinin disease semapv:MappingInversion -MONDO:0019533 paroxysmal cold hemoglobinuria skos:exactMatch NANDO:2200619 Paroxysmal cold hemoglobinuria semapv:MappingInversion -MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:exactMatch NANDO:2200621 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion -MONDO:0019350 hereditary spherocytosis skos:exactMatch NANDO:2200622 Hereditary spherocytosis semapv:MappingInversion -MONDO:0020102 hereditary stomatocytosis skos:exactMatch NANDO:2200623 Hereditary stomatocytosis semapv:MappingInversion -MONDO:0011382 sickle cell anemia skos:exactMatch NANDO:2200624 Sickle cell disease semapv:MappingInversion -MONDO:0020459 unstable hemoglobin disease skos:exactMatch NANDO:2200625 Unstable hemoglobin disease semapv:MappingInversion -MONDO:0000984 thalassemia skos:exactMatch NANDO:2200626 Thalassemia semapv:MappingInversion -MONDO:0005775 G6PD deficiency skos:exactMatch NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency semapv:MappingInversion -MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:MappingInversion -MONDO:0017319 hereditary elliptocytosis skos:exactMatch NANDO:2200630 Hereditary elliptocytosis semapv:MappingInversion -MONDO:0009948 pyropoikilocytosis, hereditary skos:exactMatch NANDO:2200631 Hereditary pyropoikilocytosis semapv:MappingInversion -MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch NANDO:2200633 Stomatocytic xerocytosis semapv:MappingInversion -MONDO:0008367 red cell phospholipid defect with hemolysis skos:exactMatch NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia semapv:MappingInversion -MONDO:0016242 hemoglobin C disease skos:exactMatch NANDO:2200635 Hemoglobin C disease semapv:MappingInversion -MONDO:0003664 hemolytic anemia skos:exactMatch NANDO:2200636 Hemolytic anemia semapv:MappingInversion -MONDO:0006795 hypersplenism skos:exactMatch NANDO:2200637 Hypersplenism semapv:MappingInversion -MONDO:0001243 disseminated intravascular coagulation skos:exactMatch NANDO:2200639 Disseminated intravascular coagulation semapv:MappingInversion -MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:exactMatch NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome semapv:MappingInversion -MONDO:0016244 atypical hemolytic-uremic syndrome skos:exactMatch NANDO:2200641 Atypical hemolytic uremic syndrome semapv:MappingInversion -MONDO:0009891 acquired polycythemia vera skos:exactMatch NANDO:2200643 Polycythemia vera semapv:MappingInversion -MONDO:0001115 familial polycythemia skos:exactMatch NANDO:2200644 Familial polycythemia semapv:MappingInversion -MONDO:0008558 autoimmune thrombocytopenic purpura skos:exactMatch NANDO:2200645 Immune thrombocytopenic purpura semapv:MappingInversion -MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:exactMatch NANDO:2200647 Neonatal alloimmune thrombocytopenia semapv:MappingInversion -MONDO:0018048 heparin-induced thrombocytopenia skos:exactMatch NANDO:2200648 Heparin-induced thrombocytopenia semapv:MappingInversion -MONDO:0018896 thrombotic thrombocytopenic purpura skos:exactMatch NANDO:2200649 Thrombotic thrombocytopenic purpura semapv:MappingInversion -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:exactMatch NANDO:2200651 Congenital amegakaryocytic thrombocytopenia semapv:MappingInversion -MONDO:0019391 Fanconi anemia skos:exactMatch NANDO:2200652 Fanconi anemia semapv:MappingInversion -MONDO:0008556 thrombocytopenia, cyclic skos:exactMatch NANDO:2200653 Cyclic thrombocytopenia semapv:MappingInversion -MONDO:0007954 obsolete May-Hegglin anomaly skos:exactMatch NANDO:2200654 May-Hegglin anomaly semapv:MappingInversion -MONDO:0005029 essential thrombocythemia skos:exactMatch NANDO:2200655 Essential thrombocythemia semapv:MappingInversion -MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch NANDO:2200656 Bernard-Soulier syndrome semapv:MappingInversion -MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:exactMatch NANDO:2200657 Thrombasthenia semapv:MappingInversion -MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:exactMatch NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis semapv:MappingInversion -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch NANDO:2200661 Thrombocytopenia with absent radii semapv:MappingInversion -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NANDO:2200662 Familial platelet disorder with propensity to myeloid. semapv:MappingInversion -MONDO:0008555 thrombocytopenia 2 skos:exactMatch NANDO:2200663 Autosomal dominant thrombocytopenia 2 semapv:MappingInversion -MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:exactMatch NANDO:2200664 ITGA2B/ITGB3 mutations semapv:MappingInversion -MONDO:0014078 platelet-type bleeding disorder 15 skos:exactMatch NANDO:2200665 ACTN1 mutations semapv:MappingInversion -MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related skos:exactMatch NANDO:2200667 β-1 tubulin disorders semapv:MappingInversion -MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch NANDO:2200668 Platelet-type von Willebrand disease semapv:MappingInversion -MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch NANDO:2200669 ADP receptor deficiencies semapv:MappingInversion -MONDO:0013623 platelet-type bleeding disorder 11 skos:exactMatch NANDO:2200670 Abnormalities in platelet collagen receptors semapv:MappingInversion -MONDO:0009885 Scott syndrome skos:exactMatch NANDO:2200671 Scott syndrome semapv:MappingInversion -MONDO:0008737 congenital afibrinogenemia skos:exactMatch NANDO:2200672 Afibrinogenemia semapv:MappingInversion -MONDO:0013361 congenital prothrombin deficiency skos:exactMatch NANDO:2200673 Hypoprothrombinemia semapv:MappingInversion -MONDO:0020586 factor V deficiency skos:exactMatch NANDO:2200674 Factor V deficiency semapv:MappingInversion -MONDO:0002244 factor VII deficiency skos:exactMatch NANDO:2200675 Factor VII deficiency semapv:MappingInversion -MONDO:0010602 hemophilia A skos:exactMatch NANDO:2200676 Hemophilia A semapv:MappingInversion -MONDO:0010604 hemophilia B skos:exactMatch NANDO:2200677 Hemophilia B semapv:MappingInversion -MONDO:0002247 factor X deficiency skos:exactMatch NANDO:2200678 Factor X deficiency semapv:MappingInversion -MONDO:0020587 factor XI deficiency skos:exactMatch NANDO:2200679 Factor XI deficiency semapv:MappingInversion -MONDO:0009315 congenital factor XII deficiency skos:exactMatch NANDO:2200680 Factor XII deficiency semapv:MappingInversion -MONDO:0002241 factor XIII deficiency skos:exactMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion -MONDO:0018029 congenital factor XIII deficiency skos:exactMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch NANDO:2200682 Von Willebrand disease semapv:MappingInversion -MONDO:0012901 inherited prekallikrein deficiency skos:exactMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion -MONDO:0044744 prekallikrein deficiency skos:exactMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch NANDO:2200685 High molecular weight kininogen deficiency semapv:MappingInversion -MONDO:0018175 combined deficiency of factor V and factor VIII skos:exactMatch NANDO:2200686 Combined deficiency of coagulation factors V and VIII semapv:MappingInversion -MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch NANDO:2200687 Alpha-2-plasmin inhibitor deficiency semapv:MappingInversion -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:exactMatch NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency semapv:MappingInversion -MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:exactMatch NANDO:2200689 Protein C deficiency semapv:MappingInversion -MONDO:0002304 protein S deficiency skos:exactMatch NANDO:2200690 Protein S deficiency semapv:MappingInversion -MONDO:0044903 myelofibrosis skos:exactMatch NANDO:2200692 Myelofibrosis semapv:MappingInversion -MONDO:0015909 aplastic anemia skos:exactMatch NANDO:2200693 Aplastic anemia semapv:MappingInversion -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:exactMatch NANDO:2200694 X-linked severe combined immunodeficiency semapv:MappingInversion -MONDO:0009973 reticular dysgenesis skos:exactMatch NANDO:2200695 Reticular dysgenesis semapv:MappingInversion -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch NANDO:2200696 Adenosine deaminase deficiency semapv:MappingInversion -MONDO:0011338 Omenn syndrome skos:exactMatch NANDO:2200697 Omenn syndrome semapv:MappingInversion -MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch NANDO:2200698 Purine nucleoside phosphorylase deficiency semapv:MappingInversion -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:exactMatch NANDO:2200699 CD8 deficiency semapv:MappingInversion -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch NANDO:2200700 ZAP-70 deficiency semapv:MappingInversion -MONDO:0011476 MHC class I deficiency skos:exactMatch NANDO:2200701 MHC class I deficiency semapv:MappingInversion -MONDO:0008855 MHC class II deficiency skos:exactMatch NANDO:2200702 MHC class II deficiency semapv:MappingInversion -MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch NANDO:2200704 Wiskott-Aldrich syndrome semapv:MappingInversion -MONDO:0008840 ataxia telangiectasia skos:exactMatch NANDO:2200705 Ataxia telangiectasia semapv:MappingInversion -MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch NANDO:2200706 Nijmegen breakage syndrome semapv:MappingInversion -MONDO:0008876 Bloom syndrome skos:exactMatch NANDO:2200707 Bloom syndrome semapv:MappingInversion -MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch NANDO:2200708 ICF syndrome semapv:MappingInversion -MONDO:0012764 RIDDLE syndrome skos:exactMatch NANDO:2200710 RIDDLE syndrome semapv:MappingInversion -MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch NANDO:2200711 Schimke syndrome semapv:MappingInversion -MONDO:0008564 DiGeorge syndrome skos:exactMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion -MONDO:0008644 velocardiofacial syndrome skos:exactMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion -MONDO:0018037 hyper-IgE syndrome skos:exactMatch NANDO:2200713 Hyper-IgE syndrome semapv:MappingInversion -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion -MONDO:0015780 dyskeratosis congenita skos:exactMatch NANDO:2200715 Dyskeratosis congenita semapv:MappingInversion -MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch NANDO:2200716 X-linked agammaglobulinemia semapv:MappingInversion -MONDO:0015517 common variable immunodeficiency skos:exactMatch NANDO:2200717 Common variable immunodeficiency semapv:MappingInversion -MONDO:0003947 hyper-IgM syndrome skos:exactMatch NANDO:2200718 Hyper-IgM syndrome semapv:MappingInversion -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:exactMatch NANDO:2200719 Isolated IgG subclass deficiency semapv:MappingInversion -MONDO:0001341 selective IgA deficiency disease skos:exactMatch NANDO:2200720 Selective IgA deficiency semapv:MappingInversion -MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:exactMatch NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:exactMatch NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion -MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch NANDO:2200724 Chédiak-Higashi syndrome semapv:MappingInversion -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch NANDO:2200725 X-linked lymphoproliferative syndrome semapv:MappingInversion -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch NANDO:2200726 Autoimmune lymphoproliferative syndrome semapv:MappingInversion -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch NANDO:2200728 Perforin deficiency semapv:MappingInversion -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch NANDO:2200729 UNC13D/Munc13-4 deficiency semapv:MappingInversion -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch NANDO:2200730 Syntaxin 11 deficiency semapv:MappingInversion -MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch NANDO:2200731 STXBP2/Munc18-2 deficiency semapv:MappingInversion -MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch NANDO:2200732 Griscelli syndrome type 2 semapv:MappingInversion -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch NANDO:2200733 Hermansky-Pudlak syndrome type 2 semapv:MappingInversion -MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch NANDO:2200734 IL-2-inducible T-cell kinase deficiency semapv:MappingInversion -MONDO:0016536 autosomal recessive lymphoproliferative disease skos:exactMatch NANDO:2200735 CD27 deficiency semapv:MappingInversion -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:MappingInversion -MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:exactMatch NANDO:2200737 STAT5b deficiency semapv:MappingInversion -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy semapv:MappingInversion -MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:exactMatch NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:MappingInversion -MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch NANDO:2200740 Caspase-8 deficiency semapv:MappingInversion -MONDO:0013408 FADD-related immunodeficiency skos:exactMatch NANDO:2200741 Fas-associated death domain protein deficiency semapv:MappingInversion -MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 skos:exactMatch NANDO:2200743 PKC-δ deficiency semapv:MappingInversion -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:exactMatch NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation semapv:MappingInversion -MONDO:0018542 severe congenital neutropenia skos:exactMatch NANDO:2200745 Severe congenital neutropenia semapv:MappingInversion -MONDO:0008090 cyclic hematopoiesis skos:exactMatch NANDO:2200746 Cyclic neutropenia semapv:MappingInversion -MONDO:0011405 poikiloderma with neutropenia skos:exactMatch NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome semapv:MappingInversion -MONDO:0008999 Cohen syndrome skos:exactMatch NANDO:2200750 Cohen syndrome semapv:MappingInversion -MONDO:0010543 Barth syndrome skos:exactMatch NANDO:2200751 Barth syndrome semapv:MappingInversion -MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:exactMatch NANDO:2200752 P14 deficiency semapv:MappingInversion -MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch NANDO:2200753 X linked severe congenital neutropenia semapv:MappingInversion -MONDO:0009288 glycogen storage disease Ib skos:exactMatch NANDO:2200754 Glycogen storage disease type 1b semapv:MappingInversion -MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch NANDO:2200755 Leukocyte adhesion deficiency semapv:MappingInversion -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch NANDO:2200756 Shwachman-Diamond syndrome semapv:MappingInversion -MONDO:0018305 chronic granulomatous disease skos:exactMatch NANDO:2200757 Chronic granulomatous disease semapv:MappingInversion -MONDO:0009694 myeloperoxidase deficiency skos:exactMatch NANDO:2200758 Myeloperoxidase deficiency semapv:MappingInversion -MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:exactMatch NANDO:2200759 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion -MONDO:0011888 immunodeficiency 67 skos:exactMatch NANDO:2200762 IRAK4 deficiency semapv:MappingInversion -MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:exactMatch NANDO:2200763 MyD88 deficiency semapv:MappingInversion -MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch NANDO:2200764 Chronic mucocutaneous candidiasis semapv:MappingInversion -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:exactMatch NANDO:2200766 HOIL-1 deficiency semapv:MappingInversion -MONDO:0008674 obsolete WHIM syndrome skos:exactMatch NANDO:2200767 WHIM syndrome semapv:MappingInversion -MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch NANDO:2200768 Epidermodysplasia verruciformis semapv:MappingInversion -MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:exactMatch NANDO:2200770 STAT2 deficiency semapv:MappingInversion -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch NANDO:2200771 MCM4 mutation semapv:MappingInversion -MONDO:0012521 herpes simplex encephalitis skos:exactMatch NANDO:2200772 Herpes simplex encephalitis semapv:MappingInversion -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:exactMatch NANDO:2200773 CARD9 deficiency semapv:MappingInversion -MONDO:0000940 trypanosomiasis skos:exactMatch NANDO:2200774 Trypanosomiasis semapv:MappingInversion -MONDO:0010066 familial isolated congenital asplenia skos:exactMatch NANDO:2200775 Isolated congenital asplenia semapv:MappingInversion -MONDO:0003832 complement deficiency skos:exactMatch NANDO:2200776 Inherited deficiency of complement system semapv:MappingInversion -MONDO:0013343 C1Q deficiency skos:exactMatch NANDO:2200777 C1q deficiency semapv:MappingInversion -MONDO:0013419 complement component C1s deficiency skos:exactMatch NANDO:2200779 C1s deficiency semapv:MappingInversion -MONDO:0009006 complement component 2 deficiency skos:exactMatch NANDO:2200781 C2 deficiency semapv:MappingInversion -MONDO:0013417 complement component 3 deficiency skos:exactMatch NANDO:2200782 C3 deficiency semapv:MappingInversion -MONDO:0012295 complement component 5 deficiency skos:exactMatch NANDO:2200783 C5 deficiency semapv:MappingInversion -MONDO:0012908 complement component 6 deficiency skos:exactMatch NANDO:2200784 C6 deficiency semapv:MappingInversion -MONDO:0012412 complement component 7 deficiency skos:exactMatch NANDO:2200785 C7 deficiency semapv:MappingInversion -MONDO:0013445 complement component 9 deficiency skos:exactMatch NANDO:2200787 C9 deficiency semapv:MappingInversion -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:exactMatch NANDO:2200788 Factor D deficiency semapv:MappingInversion -MONDO:0010713 properdin deficiency, X-linked skos:exactMatch NANDO:2200789 Properdin deficiency semapv:MappingInversion -MONDO:0012594 complement factor I deficiency skos:exactMatch NANDO:2200790 Factor I deficiency semapv:MappingInversion -MONDO:0012350 complement factor H deficiency skos:exactMatch NANDO:2200791 Factor H deficiency semapv:MappingInversion -MONDO:0017398 3MC syndrome skos:exactMatch NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome semapv:MappingInversion -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:exactMatch NANDO:2200793 MASP2 deficiency semapv:MappingInversion -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:exactMatch NANDO:2200794 Ficolin 3 Deficiency semapv:MappingInversion -MONDO:0007361 C1 inhibitor deficiency skos:exactMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion -MONDO:0019623 hereditary angioedema skos:exactMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion -MONDO:0014255 complement factor b deficiency skos:exactMatch NANDO:2200797 Factor B deficiency semapv:MappingInversion -MONDO:0012594 complement factor I deficiency skos:exactMatch NANDO:2200798 Factor I deficiency semapv:MappingInversion -MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion -MONDO:0013862 immunodeficiency, common variable, 7 skos:exactMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:exactMatch NANDO:2200803 CD46 deficiency semapv:MappingInversion -MONDO:0012858 primary CD59 deficiency skos:exactMatch NANDO:2200804 Primary CD59 deficiency semapv:MappingInversion -MONDO:0015691 hypereosinophilic syndrome skos:exactMatch NANDO:2200805 Hyper eosinophilic syndrome semapv:MappingInversion -MONDO:0015691 hypereosinophilic syndrome skos:exactMatch NANDO:2200806 Hypereosinophilic syndrome semapv:MappingInversion -MONDO:0018438 eosinophilic gastrointestinal disease skos:exactMatch NANDO:2200807 Eosinophilic gastrointestinal disorders semapv:MappingInversion -MONDO:0009194 immunodeficiency 32B skos:exactMatch NANDO:2200808 Chronic active EB virus infection semapv:MappingInversion -MONDO:0012268 AIDS skos:exactMatch NANDO:2200809 Acquired immune deficiency syndrome semapv:MappingInversion -MONDO:0005109 HIV infectious disease skos:exactMatch NANDO:2200810 HIV infection semapv:MappingInversion -MONDO:0020547 chronic graft versus host disease skos:exactMatch NANDO:2200812 Chronic graft-versus-host disease semapv:MappingInversion -MONDO:0017079 meningoencephalocele skos:exactMatch NANDO:2200813 Meningoencephalocele semapv:MappingInversion -MONDO:0017069 spina bifida cystica skos:exactMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion -MONDO:0019773 myelomeningocele skos:exactMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion -MONDO:0001790 spinal cord lipoma skos:exactMatch NANDO:2200815 Spinal lipoma semapv:MappingInversion -MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NANDO:2200816 Sacrococcygeal teratoma semapv:MappingInversion -MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch NANDO:2200817 Lissencephaly semapv:MappingInversion -MONDO:0010011 schizencephaly skos:exactMatch NANDO:2200818 Schizencephaly semapv:MappingInversion -MONDO:0016296 holoprosencephaly skos:exactMatch NANDO:2200819 Holoprosencephaly semapv:MappingInversion -MONDO:0008428 septooptic dysplasia skos:exactMatch NANDO:2200820 Septo-optic dysplasia semapv:MappingInversion -MONDO:0009072 Dandy-Walker syndrome skos:exactMatch NANDO:2200821 Dandy-Walker syndrome semapv:MappingInversion -MONDO:0016349 congenital hydrocephalus skos:exactMatch NANDO:2200822 Congenital hydrocephalus semapv:MappingInversion -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:exactMatch NANDO:2200823 Megalencephaly-capillary malformation syndrome semapv:MappingInversion -MONDO:0015369 Joubert syndrome and related disorders skos:exactMatch NANDO:2200824 Joubert syndrome related disorders semapv:MappingInversion -MONDO:0010726 Rett syndrome skos:exactMatch NANDO:2200825 Rett syndrome semapv:MappingInversion -MONDO:0001734 tuberous sclerosis skos:exactMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion -MONDO:0019341 obsolete tuberous sclerosis complex skos:exactMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion -MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NANDO:2200827 Neurocutaneous melanosis semapv:MappingInversion -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch NANDO:2200828 Gorlin syndrome semapv:MappingInversion -MONDO:0008667 von Hippel-Lindau disease skos:exactMatch NANDO:2200829 von Hippel-Lindau disease semapv:MappingInversion -MONDO:0008501 Sturge-Weber syndrome skos:exactMatch NANDO:2200830 Sturge-Weber syndrome semapv:MappingInversion -MONDO:0010196 Werner syndrome skos:exactMatch NANDO:2200831 Werner syndrome semapv:MappingInversion -MONDO:0016006 Cockayne syndrome skos:exactMatch NANDO:2200832 Cockayne syndrome semapv:MappingInversion -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch NANDO:2200833 Hutchinson-Gilford syndrome semapv:MappingInversion -MONDO:0010079 Canavan disease skos:exactMatch NANDO:2200834 Canavan disease semapv:MappingInversion -MONDO:0008752 Alexander disease skos:exactMatch NANDO:2200835 Alexander disease semapv:MappingInversion -MONDO:0019046 leukodystrophy skos:exactMatch NANDO:2200836 Congenital hypomyelinating leukodystrophy semapv:MappingInversion -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion -MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:exactMatch NANDO:2200838 Vanishing white matter disease semapv:MappingInversion -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch NANDO:2200839 ATR-X syndrome semapv:MappingInversion -MONDO:0010383 fragile X syndrome skos:exactMatch NANDO:2200840 Fragile X syndrome semapv:MappingInversion -MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch NANDO:2200842 Cerebral creatine deficiency syndrome semapv:MappingInversion -MONDO:0015337 isolated craniosynostosis skos:exactMatch NANDO:2200843 Non-syndromic craniosynostosis semapv:MappingInversion -MONDO:0007041 Apert syndrome skos:exactMatch NANDO:2200844 Apert syndrome semapv:MappingInversion -MONDO:0007405 Crouzon syndrome skos:exactMatch NANDO:2200845 Crouzon disease semapv:MappingInversion -MONDO:0019012 Carpenter syndrome skos:exactMatch NANDO:2200847 Carpenter syndrome semapv:MappingInversion -MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch NANDO:2200848 Saethre-Chotzen syndrome semapv:MappingInversion -MONDO:0016820 Moyamoya disease skos:exactMatch NANDO:2200850 Moyamoya disease semapv:MappingInversion -MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch NANDO:2200851 Cerebral arteriovenous malformation semapv:MappingInversion -MONDO:0002327 intracranial cavernous angioma skos:exactMatch NANDO:2200852 Cavernous angioma of the brain and spinal cord semapv:MappingInversion -MONDO:0001516 spinal muscular atrophy skos:exactMatch NANDO:2200853 Spinal muscular atrophy semapv:MappingInversion -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch NANDO:2200854 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion -MONDO:0015358 hereditary motor and sensory neuropathy skos:exactMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion -MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch NANDO:2200856 Duchenne muscular dystrophy semapv:MappingInversion -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:exactMatch NANDO:2200857 Emery-Dreifuss muscular dystrophy semapv:MappingInversion -MONDO:0016971 limb-girdle muscular dystrophy skos:exactMatch NANDO:2200858 Limb-girdle muscular dystrophy semapv:MappingInversion -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch NANDO:2200859 Facioscapulohumeral muscular dystrophy semapv:MappingInversion -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch NANDO:2200860 Fukuyama type congenital muscular dystrophy semapv:MappingInversion -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch NANDO:2200861 Merosin-deficient congenital muscular dystrophy semapv:MappingInversion -MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch NANDO:2200862 Ullrich congenital muscular dystrophy semapv:MappingInversion -MONDO:0016107 myotonic dystrophy skos:exactMatch NANDO:2200864 Myotonic dystrophy semapv:MappingInversion -MONDO:0010311 Becker muscular dystrophy skos:exactMatch NANDO:2200865 Becker muscular dystrophy semapv:MappingInversion -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch NANDO:2200866 LMNA-related congenital muscular dystrophy semapv:MappingInversion -MONDO:0002921 congenital structural myopathy skos:exactMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion -MONDO:0018947 centronuclear myopathy skos:exactMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion -MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch NANDO:2200868 Congenital fiber-type disproportion myopathy semapv:MappingInversion -MONDO:0018958 nemaline myopathy skos:exactMatch NANDO:2200869 Nemaline myopathy semapv:MappingInversion -MONDO:0007294 central core myopathy skos:exactMatch NANDO:2200870 Central core disease semapv:MappingInversion -MONDO:0018948 multiminicore myopathy skos:exactMatch NANDO:2200871 Multicore disease semapv:MappingInversion -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:exactMatch NANDO:2200872 Minicore myopathy semapv:MappingInversion -MONDO:0019948 reducing body myopathy skos:exactMatch NANDO:2200875 Reducing body myopathy semapv:MappingInversion -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch NANDO:2200876 Schwartz-Jampel syndrome semapv:MappingInversion -MONDO:0100135 Dravet syndrome skos:exactMatch NANDO:2200877 Severe myoclonic epilepsy in infancy semapv:MappingInversion -MONDO:0018097 West syndrome skos:exactMatch NANDO:2200878 West syndrome semapv:MappingInversion -MONDO:0016532 Lennox-Gastaut syndrome skos:exactMatch NANDO:2200879 Lennox-Gastaut syndrome semapv:MappingInversion -MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch NANDO:2200880 Unverricht-Lundborg disease semapv:MappingInversion -MONDO:0009697 Lafora disease skos:exactMatch NANDO:2200881 Lafora disease semapv:MappingInversion -MONDO:0000437 cerebellar ataxia skos:exactMatch NANDO:2200882 Spinocerebellar degeneration semapv:MappingInversion -MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch NANDO:2200883 Alternating hemiplegia of childhood semapv:MappingInversion -MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch NANDO:2200884 Dystonia musculorum deformans semapv:MappingInversion -MONDO:0016812 dopa-responsive dystonia skos:exactMatch NANDO:2200885 Segawa syndrome semapv:MappingInversion -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch NANDO:2200886 Pantothenate kinase-associated neurodegeneration semapv:MappingInversion -MONDO:0009739 obsolete infantile neuroaxonal dystrophy skos:exactMatch NANDO:2200887 Infantile neuroaxonal dystrophy semapv:MappingInversion -MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch NANDO:2200888 Infantile bilateral striatal necrosis semapv:MappingInversion -MONDO:0017381 congenital herpes simplex virus infection skos:exactMatch NANDO:2200889 Congenital herpes simplex virus infection semapv:MappingInversion -MONDO:0005713 obsolete MONDO:0005713 skos:exactMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion -MONDO:0017361 congenital rubella syndrome skos:exactMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion -MONDO:0017409 fetal cytomegalovirus syndrome skos:exactMatch NANDO:2200891 Congenital cytomegalovirus infection semapv:MappingInversion -MONDO:0005715 congenital toxoplasmosis skos:exactMatch NANDO:2200892 Congenital toxoplasmosis semapv:MappingInversion -MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch NANDO:2200893 Aicardi-Goutières Syndrome semapv:MappingInversion -MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:exactMatch NANDO:2200894 Aicardi-Goutieres syndrome 2 semapv:MappingInversion -MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:exactMatch NANDO:2200895 Aicardi-Goutieres syndrome 3 semapv:MappingInversion -MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:exactMatch NANDO:2200897 Aicardi-Goutieres syndrome 5 semapv:MappingInversion -MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:exactMatch NANDO:2200898 Aicardi-Goutieres syndrome 6 semapv:MappingInversion -MONDO:0009835 subacute sclerosing panencephalitis skos:exactMatch NANDO:2200899 Subacute sclerosing panencephalitis semapv:MappingInversion -MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch NANDO:2200900 Rasmussen's encephalitis semapv:MappingInversion -MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:exactMatch NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion -MONDO:0020640 autoimmune encephalitis skos:exactMatch NANDO:2200902 Autoimmune encephalitis semapv:MappingInversion -MONDO:0015584 febrile infection-related epilepsy syndrome skos:exactMatch NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion -MONDO:0005301 multiple sclerosis skos:exactMatch NANDO:2200904 Multiple sclerosis semapv:MappingInversion -MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:exactMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0007691 Guillain-Barre syndrome, familial skos:exactMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion -MONDO:0009688 myasthenia gravis skos:exactMatch NANDO:2200906 Myasthenia gravis semapv:MappingInversion -MONDO:0009116 obsolete lactose intolerance skos:exactMatch NANDO:2200907 Lactose intolerance semapv:MappingInversion -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch NANDO:2200908 Congenital sucrase-isomaltase deficiency semapv:MappingInversion -MONDO:0011731 glucose-galactose malabsorption skos:exactMatch NANDO:2200909 Glucose-galactose malabsorption semapv:MappingInversion -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch NANDO:2200910 Enterokinase deficiency semapv:MappingInversion -MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:exactMatch NANDO:2200911 Amylase deficiency semapv:MappingInversion -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:exactMatch NANDO:2200912 Lipase deficiency semapv:MappingInversion -MONDO:0009635 microvillus inclusion disease skos:exactMatch NANDO:2200913 Microvillus inclusion disease semapv:MappingInversion -MONDO:0018178 intestinal lymphangiectasia skos:exactMatch NANDO:2200914 Intestinal lymphangiectasia semapv:MappingInversion -MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch NANDO:2200915 Familial adenomatous polyposis semapv:MappingInversion -MONDO:0017380 juvenile polyposis syndrome skos:exactMatch NANDO:2200916 Juvenile polyposis semapv:MappingInversion -MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch NANDO:2200917 Peutz-Jeghers syndrome semapv:MappingInversion -MONDO:0016063 Cowden disease skos:exactMatch NANDO:2200918 Cowden syndrome semapv:MappingInversion -MONDO:0010778 cyclic vomiting syndrome skos:exactMatch NANDO:2200919 Cyclic vomiting syndrome semapv:MappingInversion -MONDO:0005101 ulcerative colitis skos:exactMatch NANDO:2200920 Ulcerative colitis semapv:MappingInversion -MONDO:0005011 Crohn disease skos:exactMatch NANDO:2200921 Crohn's disease semapv:MappingInversion -MONDO:0019787 autoimmune enteropathy skos:exactMatch NANDO:2200923 Autoimmune enteropathy semapv:MappingInversion -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch NANDO:2200924 IPEX syndrome semapv:MappingInversion -MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:exactMatch NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion -MONDO:0008867 biliary atresia skos:exactMatch NANDO:2200930 biliary atresia semapv:MappingInversion -MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch NANDO:2200930 biliary atresia semapv:MappingInversion -MONDO:0007318 Alagille syndrome skos:exactMatch NANDO:2200931 Alagille syndrome semapv:MappingInversion -MONDO:0015762 progressive familial intrahepatic cholestasis skos:exactMatch NANDO:2200933 Progressive familial intrahepatic cholestasis semapv:MappingInversion -MONDO:0010913 Caroli disease skos:exactMatch NANDO:2200934 Caroli disease semapv:MappingInversion -MONDO:0018808 Caroli syndrome skos:exactMatch NANDO:2200934 Caroli disease semapv:MappingInversion -MONDO:0018840 isolated congenital hepatic fibrosis skos:exactMatch NANDO:2200936 Congenital hepatic fibrosis semapv:MappingInversion -MONDO:0005155 cirrhosis of liver skos:exactMatch NANDO:2200937 Liver cirrhosis semapv:MappingInversion -MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch NANDO:2200941 Crigler-Najjar syndrome semapv:MappingInversion -MONDO:0008185 hereditary chronic pancreatitis skos:exactMatch NANDO:2200942 Hereditary pancreatitis semapv:MappingInversion -MONDO:0015175 autoimmune pancreatitis skos:exactMatch NANDO:2200943 Autoimmune pancreatitis semapv:MappingInversion -MONDO:0015183 short bowel syndrome skos:exactMatch NANDO:2200944 Short bowel syndrome semapv:MappingInversion -MONDO:0018309 Hirschsprung disease skos:exactMatch NANDO:2200945 Hirschsprung disease semapv:MappingInversion -MONDO:0017574 chronic intestinal pseudoobstruction skos:exactMatch NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion -MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion -MONDO:0008738 aganglionosis, total intestinal skos:exactMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion -MONDO:0018309 Hirschsprung disease skos:exactMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion -MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:2200950 Persistent cloaca semapv:MappingInversion -MONDO:0009774 cloacal exstrophy skos:exactMatch NANDO:2200951 Cloacal exstrophy semapv:MappingInversion -MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch NANDO:2200952 Coffin-Lowry syndrome semapv:MappingInversion -MONDO:0019349 Sotos syndrome skos:exactMatch NANDO:2200953 Sotos syndrome semapv:MappingInversion -MONDO:0008434 Smith-Magenis syndrome skos:exactMatch NANDO:2200954 Smith-Magenis syndrome semapv:MappingInversion -MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch NANDO:2200955 Rubinstein-Taybi syndrome semapv:MappingInversion -MONDO:0016512 Kabuki syndrome skos:exactMatch NANDO:2200956 Kabuki syndrome semapv:MappingInversion -MONDO:0010193 Weaver syndrome skos:exactMatch NANDO:2200957 Weaver syndrome semapv:MappingInversion -MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch NANDO:2200958 Cornelia de Lange syndrome semapv:MappingInversion -MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch NANDO:2200959 Beckwith-Wiedemann syndrome semapv:MappingInversion -MONDO:0007113 Angelman syndrome skos:exactMatch NANDO:2200960 Angelman syndrome semapv:MappingInversion -MONDO:0007404 Cri-du-chat syndrome skos:exactMatch NANDO:2200961 5p- syndrome semapv:MappingInversion -MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch NANDO:2200962 4p- Syndrome semapv:MappingInversion -MONDO:0018071 trisomy 18 skos:exactMatch NANDO:2200963 Trisomy 18 semapv:MappingInversion -MONDO:0018068 trisomy 13 skos:exactMatch NANDO:2200964 Trisomy 13 semapv:MappingInversion -MONDO:0008608 Down syndrome skos:exactMatch NANDO:2200965 Down syndrome semapv:MappingInversion -MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch NANDO:2200967 CFC Syndrome semapv:MappingInversion -MONDO:0007947 Marfan syndrome skos:exactMatch NANDO:2200968 Marfan syndrome semapv:MappingInversion -MONDO:0018954 Loeys-Dietz syndrome skos:exactMatch NANDO:2200969 Loeys-Dietz syndrome semapv:MappingInversion -MONDO:0007542 Camurati-Engelmann disease skos:exactMatch NANDO:2200970 Camurati-Engelmann disease semapv:MappingInversion -MONDO:0009026 Costello syndrome skos:exactMatch NANDO:2200971 Costello syndrome semapv:MappingInversion -MONDO:0008965 CHARGE syndrome skos:exactMatch NANDO:2200972 CHARGE syndrome semapv:MappingInversion -MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch NANDO:2200973 Hallermann-Streiff syndrome semapv:MappingInversion -MONDO:0010631 incontinentia pigmenti skos:exactMatch NANDO:2200974 Incontinentia pigmenti semapv:MappingInversion -MONDO:0008803 Antley-Bixler syndrome skos:exactMatch NANDO:2200975 Antley-Bixler syndrome semapv:MappingInversion -MONDO:0005810 infectious mononucleosis skos:exactMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion -MONDO:0007043 Pfeiffer syndrome skos:exactMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion -MONDO:0015452 Coffin-Siris syndrome skos:exactMatch NANDO:2200977 Coffin-Siris syndrome semapv:MappingInversion -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch NANDO:2200978 Simpson-Golabi-Behmel syndrome semapv:MappingInversion -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch NANDO:2200979 Smith-Lemli-Opitz syndrome semapv:MappingInversion -MONDO:0008006 Mobius syndrome skos:exactMatch NANDO:2200980 Moebius syndrome semapv:MappingInversion -MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch NANDO:2200981 Mowat-Wilson syndrome semapv:MappingInversion -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch NANDO:2200982 Young-Simpson syndrome semapv:MappingInversion -MONDO:0008642 VACTERL/vater association skos:exactMatch NANDO:2200983 VATER syndrome semapv:MappingInversion -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch NANDO:2200984 MECP2 duplication syndrome semapv:MappingInversion -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:exactMatch NANDO:2200985 Takenouchi-Kosaki syndrome semapv:MappingInversion -MONDO:0018910 oculocutaneous albinism skos:exactMatch NANDO:2200986 Oculocutaneous albinism semapv:MappingInversion -MONDO:0017266 keratinopathic ichthyosis skos:exactMatch NANDO:2200987 Keratinopathic ichthyosis semapv:MappingInversion -MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch NANDO:2200988 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion -MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:exactMatch NANDO:2200989 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion -MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch NANDO:2200990 Superficial epidermolytic ichthyosis semapv:MappingInversion -MONDO:0017265 autosomal recessive congenital ichthyosis skos:exactMatch NANDO:2200991 Autosomal recessive congenital ichthyosis semapv:MappingInversion -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch NANDO:2200992 Harlequin ichthyosis semapv:MappingInversion -MONDO:0009735 Netherton syndrome skos:exactMatch NANDO:2200993 Netherton syndrome semapv:MappingInversion -MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch NANDO:2200994 Sjögren-Larsson syndrome semapv:MappingInversion -MONDO:0018781 KID syndrome skos:exactMatch NANDO:2200996 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion -MONDO:0010155 Dorfman-Chanarin disease skos:exactMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion -MONDO:0015611 neutral lipid storage disease skos:exactMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion -MONDO:0010621 CHILD syndrome skos:exactMatch NANDO:2200998 CHILD syndrome semapv:MappingInversion -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:exactMatch NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome semapv:MappingInversion -MONDO:0006541 epidermolysis bullosa skos:exactMatch NANDO:2201000 Epidermolysis bullosa semapv:MappingInversion -MONDO:0022205 pustular psoriasis skos:exactMatch NANDO:2201001 Pustular psoriasis semapv:MappingInversion -MONDO:0019600 xeroderma pigmentosum skos:exactMatch NANDO:2201002 Xeroderma pigmentosum semapv:MappingInversion -MONDO:0018975 neurofibromatosis type 1 skos:exactMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion -MONDO:0021061 neurofibromatosis skos:exactMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion -MONDO:0009799 obsolete pachydermoperiostosis skos:exactMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch NANDO:2201005 Anhidrotic ectodermal dysplasia semapv:MappingInversion -MONDO:0018229 Stevens-Johnson syndrome skos:exactMatch NANDO:2201006 Stevens-Johnson syndrome semapv:MappingInversion -MONDO:0019810 toxic epidermal necrolysis skos:exactMatch NANDO:2201007 Toxic epidermal necrolysis semapv:MappingInversion -MONDO:0015929 thoracic malformation skos:exactMatch NANDO:2201008 Thoracic insufficiency syndrome semapv:MappingInversion -MONDO:0007037 Achondroplasia skos:exactMatch NANDO:2201009 Achondroplasia semapv:MappingInversion -MONDO:0007793 hypochondroplasia skos:exactMatch NANDO:2201010 Hypochondroplasia semapv:MappingInversion -MONDO:0019019 osteogenesis imperfecta skos:exactMatch NANDO:2201011 Osteogenesis imperfecta semapv:MappingInversion -MONDO:0018570 hypophosphatasia skos:exactMatch NANDO:2201012 Hypophosphatasia semapv:MappingInversion -MONDO:0017198 osteopetrosis skos:exactMatch NANDO:2201013 Osteopetrosis semapv:MappingInversion -MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NANDO:2201014 Multiple cartilaginous exostosis semapv:MappingInversion -MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion -MONDO:0008145 Ollier disease skos:exactMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion -MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:exactMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion -MONDO:0016068 fibrochondrogenesis skos:exactMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion -MONDO:0022800 type 2 collagenopathy skos:exactMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion -MONDO:0019701 chondrodysplasia punctata skos:exactMatch NANDO:2201017 Chondrodysplasia punctata semapv:MappingInversion -MONDO:0008322 pseudoachondroplasia skos:exactMatch NANDO:2201018 Pseudoachondroplasia semapv:MappingInversion -MONDO:0007875 Larsen syndrome skos:exactMatch NANDO:2201019 Larsen syndrome semapv:MappingInversion -MONDO:0003964 myositis ossificans skos:exactMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion -MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion -MONDO:0018240 TRPV4-related bone disorder skos:exactMatch NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders semapv:MappingInversion -MONDO:0002933 osteosclerosis skos:exactMatch NANDO:2201022 Osteosclerotic diseases semapv:MappingInversion -MONDO:0009940 pycnodysostosis skos:exactMatch NANDO:2201023 Pycnodysostosis semapv:MappingInversion -MONDO:0001414 osteopoikilosis skos:exactMatch NANDO:2201024 Osteopoikilosis semapv:MappingInversion -MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch NANDO:2201026 Beals syndrome semapv:MappingInversion -MONDO:0007203 blue rubber bleb nevus skos:exactMatch NANDO:2201027 Blue rubber bleb nevus syndrome semapv:MappingInversion -MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch NANDO:2201030 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion -MONDO:0019175 primary lymphedema skos:exactMatch NANDO:2201031 Primary lymphedema semapv:MappingInversion -MONDO:0002013 lymphangioma skos:exactMatch NANDO:2201032 Lymphangioma semapv:MappingInversion -MONDO:0015408 diffuse lymphatic malformation skos:exactMatch NANDO:2201033 Lymphangiomatosis semapv:MappingInversion -MONDO:0019180 hereditary hemorrhagic telangiectasia skos:exactMatch NANDO:2201034 Hereditary hemorrhagic telangiectasia semapv:MappingInversion -MONDO:0007708 Kasabach-Merritt syndrome skos:exactMatch NANDO:2201035 Kasabach-Merritt syndrome semapv:MappingInversion -MONDO:0003075 bilateral retinoblastoma skos:exactMatch NANDO:2201038 Bilateral retinoblastoma semapv:MappingInversion -MONDO:0008888 Williams-Campbell syndrome skos:exactMatch NANDO:2201040 Bronchomalacia semapv:MappingInversion -MONDO:0005045 hypertrophic cardiomyopathy skos:exactMatch NANDO:2201042 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:exactMatch NANDO:2201046 Idiopathic pulmonary arterial hypertension semapv:MappingInversion -MONDO:0017148 heritable pulmonary arterial hypertension skos:exactMatch NANDO:2201047 Familial pulmonary arterial hypertension semapv:MappingInversion -MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease skos:exactMatch NANDO:2201048 Secondary pulmonary arterial hypertension semapv:MappingInversion -MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch NANDO:2201050 Familial central diabetes insipidus semapv:MappingInversion -MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch NANDO:2201052 Multiple endocrine neoplasia type 2A semapv:MappingInversion -MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch NANDO:2201053 Multiple endocrine neoplasia type 2B semapv:MappingInversion -MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch NANDO:2201054 Medullary thyroid carcinoma semapv:MappingInversion -MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NANDO:2201055 Systemic juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:exactMatch NANDO:2201056 Oligoarticular juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0043152 negative rheumatoid factor polyarthritis skos:exactMatch NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:exactMatch NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0011849 psoriatic arthritis skos:exactMatch NANDO:2201059 Psoriatic juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:exactMatch NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0019607 unspecified juvenile idiopathic arthritis skos:exactMatch NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis semapv:MappingInversion -MONDO:0011776 CINCA syndrome skos:exactMatch NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion -MONDO:0008633 Muckle-Wells syndrome skos:exactMatch NANDO:2201067 Muckle-Wells syndrome semapv:MappingInversion -MONDO:0018768 familial cold autoinflammatory syndrome skos:exactMatch NANDO:2201068 familial cold autoinflammatory syndrome semapv:MappingInversion -MONDO:0007452 maturity-onset diabetes of the young type 1 skos:exactMatch NANDO:2201069 Maturity-onset diabetes of the young type 1 semapv:MappingInversion -MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch NANDO:2201070 Maturity-onset diabetes of the young type 2 semapv:MappingInversion -MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch NANDO:2201071 Maturity-onset diabetes of the young type 3 semapv:MappingInversion -MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch NANDO:2201072 Maturity-onset diabetes of the young type 4 semapv:MappingInversion -MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch NANDO:2201073 Maturity-onset diabetes of the young type 5 semapv:MappingInversion -MONDO:0009861 phenylketonuria skos:exactMatch NANDO:2201075 Phenylalanine hydroxylase deficiency semapv:MappingInversion -MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:exactMatch NANDO:2201076 BH4 deficiency semapv:MappingInversion -MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:exactMatch NANDO:2201077 BH4-responsive hyperphenylalaninemia semapv:MappingInversion -MONDO:0017051 classic maple syrup urine disease skos:exactMatch NANDO:2201078 Classic form maple syrup urine disease semapv:MappingInversion -MONDO:0017052 intermediate maple syrup urine disease skos:exactMatch NANDO:2201079 Intermediate maple syrup urine disease semapv:MappingInversion -MONDO:0017053 intermittent maple syrup urine disease skos:exactMatch NANDO:2201080 Intermittent maple syrup urine disease semapv:MappingInversion -MONDO:0017054 thiamine-responsive maple syrup urine disease skos:exactMatch NANDO:2201081 Thiamine-responsive maple syrup urine disease semapv:MappingInversion -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency semapv:MappingInversion -MONDO:0016600 acute neonatal citrullinemia type I skos:exactMatch NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency semapv:MappingInversion -MONDO:0016601 adult-onset citrullinemia type I skos:exactMatch NANDO:2201095 Late-onset argininosuccinate synthetase deficiency semapv:MappingInversion -MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch NANDO:2201105 Methylmalonic acidemia cblA type semapv:MappingInversion -MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch NANDO:2201106 Methylmalonic acidemia cblB type semapv:MappingInversion -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type semapv:MappingInversion -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch NANDO:2201108 Methylmalonic acidemia CblD type semapv:MappingInversion -MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch NANDO:2201109 Methylcobalamin deficiency cblE type semapv:MappingInversion -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type semapv:MappingInversion -MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion -MONDO:0021915 arakawa syndrome 2 skos:exactMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:exactMatch NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency semapv:MappingInversion -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:exactMatch NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch NANDO:2201147 Presymptomatic trifunctional protein deficiency semapv:MappingInversion -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:exactMatch NANDO:2201151 Glycogen storage disease type 0a semapv:MappingInversion -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:exactMatch NANDO:2201152 Glycogen storage disease type 0b semapv:MappingInversion -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch NANDO:2201153 Glycogen storage disease type 1a semapv:MappingInversion -MONDO:0009288 glycogen storage disease Ib skos:exactMatch NANDO:2201154 Glycogen storage disease type 1b semapv:MappingInversion -MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:exactMatch NANDO:2201159 Glycogen storage disease type IV, hepatic form semapv:MappingInversion -MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:exactMatch NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form semapv:MappingInversion -MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:exactMatch NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form semapv:MappingInversion -MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:exactMatch NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form semapv:MappingInversion -MONDO:0009897 adult polyglucosan body disease skos:exactMatch NANDO:2201163 Glycogen storage disease type IV, adult form semapv:MappingInversion -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch NANDO:2201164 Glycogen storage disease type IXa semapv:MappingInversion -MONDO:0009868 glycogen storage disease IXb skos:exactMatch NANDO:2201165 Glycogen storage disease type IXb semapv:MappingInversion -MONDO:0013091 glycogen storage disease IXc skos:exactMatch NANDO:2201166 Glycogen storage disease type IXc semapv:MappingInversion -MONDO:0010362 glycogen storage disease IXd skos:exactMatch NANDO:2201167 Glycogen storage disease type IXd semapv:MappingInversion -MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch NANDO:2201168 Hurler Disease semapv:MappingInversion -MONDO:0011758 Hurler syndrome skos:exactMatch NANDO:2201168 Hurler Disease semapv:MappingInversion -MONDO:0011760 Scheie syndrome skos:exactMatch NANDO:2201169 Scheie disease semapv:MappingInversion -MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch NANDO:2201170 Hurler-Scheie disease semapv:MappingInversion -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch NANDO:2201171 Mucopolysaccharidosis type II, attenuated form semapv:MappingInversion -MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:exactMatch NANDO:2201172 Mucopolysaccharidosis type II, intermediate form semapv:MappingInversion -MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:exactMatch NANDO:2201173 Mucopolysaccharidosis type II, severe form semapv:MappingInversion -MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch NANDO:2201174 Mucopolysaccharidosis type III A semapv:MappingInversion -MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch NANDO:2201175 Mucopolysaccharidosis type III B semapv:MappingInversion -MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch NANDO:2201176 Mucopolysaccharidosis type III C semapv:MappingInversion -MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch NANDO:2201177 Mucopolysaccharidosis type III D semapv:MappingInversion -MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch NANDO:2201178 Mucopolysaccharidosis type IV A semapv:MappingInversion -MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch NANDO:2201179 Mucopolysaccharidosis type IV B semapv:MappingInversion -MONDO:0017732 alpha-mannosidosis, infantile form skos:exactMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion -MONDO:0022424 alpha-mannosidosis type 1 skos:exactMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion -MONDO:0017733 alpha-mannosidosis, adult form skos:exactMatch NANDO:2201189 Alpha-mannosidosis, adult form semapv:MappingInversion -MONDO:0009562 beta-mannosidosis skos:exactMatch NANDO:2201190 Beta-mannosidosis semapv:MappingInversion -MONDO:0019346 sialidosis type 1 skos:exactMatch NANDO:2201191 Sialidosis type 1 semapv:MappingInversion -MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:2201192 Sialidosis type 2 semapv:MappingInversion -MONDO:0009738 sialidosis type 2 skos:exactMatch NANDO:2201193 Galactosialidosis, early infantile form semapv:MappingInversion -MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch NANDO:2201196 GM1 gangliosidosis, infantile form semapv:MappingInversion -MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch NANDO:2201197 GM1 gangliosidosis, juvenile form semapv:MappingInversion -MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch NANDO:2201198 GM1 gangliosidosis, adult form semapv:MappingInversion -MONDO:0010100 Tay-Sachs disease skos:exactMatch NANDO:2201199 Tay-Sachs disease semapv:MappingInversion -MONDO:0010006 Sandhoff disease skos:exactMatch NANDO:2201200 Sandhoff disease semapv:MappingInversion -MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch NANDO:2201201 GM2 gangliosidosis AB variant semapv:MappingInversion -MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:exactMatch NANDO:2201202 Metachromatic leukodystrophy, late infantile form semapv:MappingInversion -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:exactMatch NANDO:2201203 Metachromatic leukodystrophy, juvenile form semapv:MappingInversion -MONDO:0017730 metachromatic leukodystrophy, adult form skos:exactMatch NANDO:2201204 Metachromatic leukodystrophy, adult form semapv:MappingInversion -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:exactMatch NANDO:2201205 Saposin B deficiency semapv:MappingInversion -MONDO:0009756 Niemann-Pick disease type A skos:exactMatch NANDO:2201206 Niemann-Pick disease type A semapv:MappingInversion -MONDO:0011871 Niemann-Pick disease type B skos:exactMatch NANDO:2201207 Niemann-Pick disease type B semapv:MappingInversion -MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:exactMatch NANDO:2201209 Adult-onset Niemann-Pick disease type C semapv:MappingInversion -MONDO:0009265 Gaucher disease type I skos:exactMatch NANDO:2201210 Gaucher disease type 1 semapv:MappingInversion -MONDO:0009266 Gaucher disease type II skos:exactMatch NANDO:2201211 Gaucher disease type 2 semapv:MappingInversion -MONDO:0009267 Gaucher disease type III skos:exactMatch NANDO:2201212 Gaucher disease type 3 semapv:MappingInversion -MONDO:0016089 infantile Krabbe disease skos:exactMatch NANDO:2201216 Infantile Krabbe disease semapv:MappingInversion -MONDO:0016091 adult Krabbe disease skos:exactMatch NANDO:2201219 Adult Krabbe disease semapv:MappingInversion -MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:exactMatch NANDO:2201229 Classic infantile Pompe disease semapv:MappingInversion -MONDO:0019148 Wolman disease skos:exactMatch NANDO:2201232 Wolman disease semapv:MappingInversion -MONDO:0019149 cholesteryl ester storage disease skos:exactMatch NANDO:2201233 Cholesterol ester storage disease semapv:MappingInversion -MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion -MONDO:0100151 nephropathic cystinosis skos:exactMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion -MONDO:0009066 juvenile nephropathic cystinosis skos:exactMatch NANDO:2201235 Intermediate cystinosis semapv:MappingInversion -MONDO:0009064 ocular cystinosis skos:exactMatch NANDO:2201236 Non-nephropathic cystinosis semapv:MappingInversion -MONDO:0010027 free sialic acid storage disease, infantile form skos:exactMatch NANDO:2201237 Infantile free sialic acid storage disease semapv:MappingInversion -MONDO:0017737 intermediate severe Salla disease skos:exactMatch NANDO:2201238 Intermediate severe Salla disease semapv:MappingInversion -MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201240 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:exactMatch NANDO:2201244 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:exactMatch NANDO:2201246 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion -MONDO:0015339 adrenomyeloneuropathy skos:exactMatch NANDO:2201248 Adrenomyeloneuropathy semapv:MappingInversion -MONDO:0018328 homozygous familial hypercholesterolemia skos:exactMatch NANDO:2201255 Homozygous familial hypercholesterolemia semapv:MappingInversion -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:exactMatch NANDO:2201256 Ehlers-Danlos syndrome, classical type semapv:MappingInversion -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch NANDO:2201258 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:exactMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion -MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:exactMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:exactMatch NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion -MONDO:0008294 acute intermittent porphyria skos:exactMatch NANDO:2201263 Acute intermittent porphyria semapv:MappingInversion -MONDO:0007369 hereditary coproporphyria skos:exactMatch NANDO:2201264 Hereditary coproporphyria semapv:MappingInversion -MONDO:0008297 variegate porphyria skos:exactMatch NANDO:2201265 Variegate porphyria semapv:MappingInversion -MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0008319 protoporphyria, erythropoietic, 1 skos:exactMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion -MONDO:0015104 porphyria cutanea tarda skos:exactMatch NANDO:2201267 Porphyria cutanea tarda semapv:MappingInversion -MONDO:0009902 cutaneous porphyria skos:exactMatch NANDO:2201268 Congenital erythropoietic porphyria semapv:MappingInversion -MONDO:0010420 X-linked erythropoietic protoporphyria skos:exactMatch NANDO:2201269 X-linked dominant protoporphyria semapv:MappingInversion -MONDO:0019799 hepatoerythropoietic porphyria skos:exactMatch NANDO:2201270 Hepatoerythropoietic porphyria semapv:MappingInversion -MONDO:0011399 alpha thalassemia skos:exactMatch NANDO:2201273 α-thalassemia semapv:MappingInversion -MONDO:0019402 beta thalassemia skos:exactMatch NANDO:2201274 β-thalassemia semapv:MappingInversion -MONDO:0001713 inherited aplastic anemia skos:exactMatch NANDO:2201275 Congenital aplastic anemia semapv:MappingInversion -MONDO:0012197 idiopathic aplastic anemia skos:exactMatch NANDO:2201276 Idiopathic aplastic anemia semapv:MappingInversion -MONDO:0015610 acquired aplastic anemia skos:exactMatch NANDO:2201277 Secondary aplastic anemia semapv:MappingInversion -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch NANDO:2201279 gp91phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:exactMatch NANDO:2201280 p22phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:exactMatch NANDO:2201281 p47phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:exactMatch NANDO:2201282 p67phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:exactMatch NANDO:2201283 p40phox-deficient chronic granulomatous disease semapv:MappingInversion -MONDO:0042727 sacrococcygeal teratoma skos:exactMatch NANDO:2201287 Altman type IV sacrococcygeal teratoma semapv:MappingInversion -MONDO:0010714 Pelizaeus-Merzbacher disease skos:exactMatch NANDO:2201288 Pelizaeus-Merzbacher disease semapv:MappingInversion -MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:exactMatch NANDO:2201289 Pelizaeus-Merzbacher like disease semapv:MappingInversion -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion -MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch NANDO:2201291 18q-syndrome semapv:MappingInversion -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch NANDO:2201292 Allan-Herndon-Dudley syndrome semapv:MappingInversion -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch NANDO:2201293 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion -MONDO:0011449 Salla disease skos:exactMatch NANDO:2201294 Salla disease semapv:MappingInversion -MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:exactMatch NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch NANDO:2201296 Hypomyelination and congenital cataract semapv:MappingInversion -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion -MONDO:0012198 PCWH syndrome skos:exactMatch NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion -MONDO:0012996 AGAT deficiency skos:exactMatch NANDO:2201299 AGAT deficiency semapv:MappingInversion -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NANDO:2201300 GAMT deficiency semapv:MappingInversion -MONDO:0010305 creatine transporter deficiency skos:exactMatch NANDO:2201301 SLC6A8 deficiency semapv:MappingInversion -MONDO:0018112 isolated scaphocephaly skos:exactMatch NANDO:2201302 Non-syndromic sagittal craniosynostosis semapv:MappingInversion -MONDO:0018065 isolated trigonocephaly skos:exactMatch NANDO:2201305 Non-syndromic metopic craniosynostosis semapv:MappingInversion -MONDO:0021081 anti-NMDA receptor encephalitis skos:exactMatch NANDO:2201317 Anti-NMDA receptor encephalitis semapv:MappingInversion -MONDO:0005314 relapsing-remitting multiple sclerosis skos:exactMatch NANDO:2201319 Relapsing-remitting multiple sclerosis semapv:MappingInversion -MONDO:0000451 primary progressive multiple sclerosis skos:exactMatch NANDO:2201320 Primary progressive multiple sclerosis semapv:MappingInversion -MONDO:0000450 secondary progressive multiple sclerosis skos:exactMatch NANDO:2201321 Secondary progressive multiple sclerosis semapv:MappingInversion -MONDO:0019100 neuromyelitis optica skos:exactMatch NANDO:2201322 Neuromyelitis optica semapv:MappingInversion -MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NANDO:2201341 Epidermolysis bullosa simplex semapv:MappingInversion -MONDO:0017612 junctional epidermolysis bullosa skos:exactMatch NANDO:2201342 Junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0017608 obsolete dystrophic epidermolysis bullosa skos:exactMatch NANDO:2201343 Dystrophic epidermolysis bullosa semapv:MappingInversion -MONDO:0008702 achondrogenesis type II skos:exactMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion -MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion -MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion -MONDO:0019669 hypochondrogenesis skos:exactMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch NANDO:2201347 Platyspondylic dysplasia, Torrance type semapv:MappingInversion -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch NANDO:2201348 Spondyloepiphyseal dysplasia congenita semapv:MappingInversion -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type semapv:MappingInversion -MONDO:0007987 Kniest dysplasia skos:exactMatch NANDO:2201350 Kniest dysplasia semapv:MappingInversion -MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch NANDO:2201351 Spondyloperipheral dysplasia semapv:MappingInversion -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:exactMatch NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis semapv:MappingInversion -MONDO:0012206 Czech dysplasia, metatarsal type skos:exactMatch NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:MappingInversion -MONDO:0007160 Stickler syndrome type 1 skos:exactMatch NANDO:2201354 Stickler syndrome type 1 semapv:MappingInversion -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata semapv:MappingInversion -MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:exactMatch NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type semapv:MappingInversion -MONDO:0010621 CHILD syndrome skos:exactMatch NANDO:2201358 CHILD syndrome semapv:MappingInversion -MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:exactMatch NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type semapv:MappingInversion -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch NANDO:2201360 Brachytelephalangic chondrodysplasia punctata semapv:MappingInversion -MONDO:0008974 Greenberg dysplasia skos:exactMatch NANDO:2201361 Greenberg dysplasia semapv:MappingInversion -MONDO:0019408 Astley-Kendall dysplasia skos:exactMatch NANDO:2201362 Astley-Kendall dysplasia semapv:MappingInversion -MONDO:0007970 melorheostosis skos:exactMatch NANDO:2201364 Melorheostosis semapv:MappingInversion -MONDO:0009138 dysosteosclerosis skos:exactMatch NANDO:2201365 Dysosteosclerosis semapv:MappingInversion -MONDO:0015465 craniometaphyseal dysplasia skos:exactMatch NANDO:2201366 Craniometaphyseal dysplasia semapv:MappingInversion -MONDO:0009943 Pyle disease skos:exactMatch NANDO:2201367 Metaphyseal dysplasias semapv:MappingInversion -MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch NANDO:2201368 Craniodiaphyseal dysplasia semapv:MappingInversion -MONDO:0017838 sclerosteosis skos:exactMatch NANDO:2201369 Sclerosteosis semapv:MappingInversion -MONDO:0017610 epidermolysis bullosa simplex skos:exactMatch NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex semapv:MappingInversion -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy semapv:MappingInversion -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch NANDO:2201378 Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:exactMatch NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia semapv:MappingInversion -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe semapv:MappingInversion -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch NANDO:2201385 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion +MONDO:0000087 polymicrogyria skos:closeMatch NANDO:1201071 Polymicrogyria semapv:MappingInversion +MONDO:0000088 precocious puberty skos:closeMatch NANDO:2100135 Precocious puberty semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch NANDO:1200334 ICF syndrome semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch NANDO:2200708 ICF syndrome semapv:MappingInversion +MONDO:0000147 polyposis skos:closeMatch NANDO:2100257 Polyposis semapv:MappingInversion +MONDO:0000153 transposition of the great arteries skos:closeMatch NANDO:2200258 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:closeMatch NANDO:2100052 Ventricular fibrillation semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:closeMatch NANDO:2200227 Ventricular fibrillation semapv:MappingInversion +MONDO:0000351 disorder of methionine catabolism skos:closeMatch NANDO:2200475 Hypermethioninemia semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch NANDO:2200862 Ullrich congenital muscular dystrophy semapv:MappingInversion +MONDO:0000390 vitelliform macular dystrophy skos:closeMatch NANDO:1200932 Vitelliform macular dystrophy semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:1200037 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:2100238 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:2200882 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:closeMatch NANDO:1200026 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:closeMatch NANDO:2201321 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:closeMatch NANDO:1200025 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:closeMatch NANDO:2201320 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000455 cone dystrophy skos:closeMatch NANDO:1200936 Cone dystrophy semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:1201032 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:2100226 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:2200842 Cerebral creatine deficiency syndrome semapv:MappingInversion +MONDO:0000468 third-degree atrioventricular block skos:closeMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0000521 salivary gland carcinoma skos:closeMatch NANDO:2200076 Salivary grand carcinoma semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:closeMatch NANDO:2100014 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:closeMatch NANDO:2200139 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:closeMatch NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:closeMatch NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0000721 xanthinuria skos:closeMatch NANDO:2200588 Xanthinuria semapv:MappingInversion +MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:closeMatch NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery semapv:MappingInversion +MONDO:0000839 obsolete congenital abnormality skos:closeMatch NANDO:1200957 Congenital anomalies syndrome semapv:MappingInversion +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:closeMatch NANDO:2200002 Mature B-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:closeMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:closeMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch NANDO:1200522 Dystonia 11 semapv:MappingInversion +MONDO:0000940 trypanosomiasis skos:closeMatch NANDO:2200774 Trypanosomiasis semapv:MappingInversion +MONDO:0000984 thalassemia skos:closeMatch NANDO:2200626 Thalassemia semapv:MappingInversion +MONDO:0000995 familial periodic paralysis skos:closeMatch NANDO:1200502 Hereditary periodic paralysis semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NANDO:2100027 Fanconi syndrome semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NANDO:2200187 Fanconi syndrome semapv:MappingInversion +MONDO:0001085 interstitial nephritis skos:closeMatch NANDO:2200136 Tubulointerstitial nephritis semapv:MappingInversion +MONDO:0001105 renal hypertension skos:closeMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0001105 renal hypertension skos:closeMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:closeMatch NANDO:2100012 Chronic pyelonephritis semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:closeMatch NANDO:2200137 Chronic pyelonephritis semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:closeMatch NANDO:2100187 Familial polycythemia semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:closeMatch NANDO:2200644 Familial polycythemia semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0001243 disseminated intravascular coagulation skos:closeMatch NANDO:2200639 Disseminated intravascular coagulation semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:closeMatch NANDO:2100044 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:closeMatch NANDO:2200213 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch NANDO:2200303 Mitral regurgitation semapv:MappingInversion +MONDO:0001324 obsolete hyperandrogenism skos:closeMatch NANDO:2200380 Hyperandrogenism semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001336 familial hyperlipidemia skos:closeMatch NANDO:2200603 Familial combined hyperlipidemia semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:closeMatch NANDO:1200347 Selective IgA deficiency semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:closeMatch NANDO:2200720 Selective IgA deficiency semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch NANDO:1200491 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch NANDO:2200859 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0001414 osteopoikilosis skos:closeMatch NANDO:2201024 Osteopoikilosis semapv:MappingInversion +MONDO:0001422 primary aldosteronism skos:closeMatch NANDO:2200361 Aldosteronism semapv:MappingInversion +MONDO:0001437 pulmonary alveolar proteinosis skos:closeMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0001493 chronic pulmonary heart disease skos:closeMatch NANDO:2200299 Chronic cor pulmonale semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:1200003 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:2200853 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001558 Potter sequence skos:closeMatch NANDO:2200157 Potter syndrome semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NANDO:2200547 Mucopolysaccharidosis type I semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:closeMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:closeMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:closeMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:closeMatch NANDO:2100176 Megaloblastic anemia semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:closeMatch NANDO:2200612 Megaloblastic anemia semapv:MappingInversion +MONDO:0001705 pure red-cell aplasia skos:closeMatch NANDO:2100177 Pure red cell aplasia semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:closeMatch NANDO:1200302 Congenital aplastic anemia semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:closeMatch NANDO:2201275 Congenital aplastic anemia semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:closeMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:closeMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:closeMatch NANDO:2100123 Hyperparathyroidism semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:closeMatch NANDO:2200343 Hyperparathyroidism semapv:MappingInversion +MONDO:0001790 spinal cord lipoma skos:closeMatch NANDO:2200815 Spinal lipoma semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:closeMatch NANDO:2100043 Sick sinus syndrome semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:closeMatch NANDO:2200212 Sick sinus syndrome semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:closeMatch NANDO:2100019 Renal tubular acidosis semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:closeMatch NANDO:2200144 Renal tubular acidosis semapv:MappingInversion +MONDO:0001927 pulmonary valve insufficiency skos:closeMatch NANDO:2200305 Pulmonary valve regurgitation semapv:MappingInversion +MONDO:0001946 obsolete hyperestrogenism skos:closeMatch NANDO:2200379 Hyperestrogenism semapv:MappingInversion +MONDO:0001969 mixed gonadal dysgenesis skos:closeMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0001982 Niemann-Pick disease skos:closeMatch NANDO:2200561 Niemann-Pick disease semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:closeMatch NANDO:1200793 Methylmalonic acidemia semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:closeMatch NANDO:2200491 Methylmalonic acidemia semapv:MappingInversion +MONDO:0002013 lymphangioma skos:closeMatch NANDO:2201032 Lymphangioma semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:closeMatch NANDO:2100087 Ventricular septal defect semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:closeMatch NANDO:2200270 Ventricular septal defect semapv:MappingInversion +MONDO:0002108 thyroid cancer skos:closeMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0002145 disorder of sexual differentiation skos:closeMatch NANDO:2100140 Disorders of sex development semapv:MappingInversion +MONDO:0002241 factor XIII deficiency skos:closeMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0002244 factor VII deficiency skos:closeMatch NANDO:2200675 Factor VII deficiency semapv:MappingInversion +MONDO:0002247 factor X deficiency skos:closeMatch NANDO:2200678 Factor X deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:1201081 Protein S deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:2100198 Protein S deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:2200690 Protein S deficiency semapv:MappingInversion +MONDO:0002327 intracranial cavernous angioma skos:closeMatch NANDO:2200852 Cavernous angioma of the brain and spinal cord semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002412 disorder of glycogen metabolism skos:closeMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:1200840 Hepatic glycogen storage disease type Ia semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:1201018 Hepatic glycogen storage disease type I semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:2200538 Glycogen storage disease type I semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch NANDO:1200416 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch NANDO:2200199 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:closeMatch NANDO:2100053 Long QT syndrome semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:closeMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0002470 photosensitive trichothiodystrophy skos:closeMatch NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature semapv:MappingInversion +MONDO:0002473 cystic kidney disease skos:closeMatch NANDO:2200172 Simple renal cyst semapv:MappingInversion +MONDO:0002474 primary hyperoxaluria skos:closeMatch NANDO:2200503 Primary hyperoxaluria semapv:MappingInversion +MONDO:0002540 childhood oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002543 adult oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002546 schwannoma skos:closeMatch NANDO:2200103 Neurinoma semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:closeMatch NANDO:1200055 Lysosomal storage disease semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:closeMatch NANDO:2100165 Lysosomal storage disease semapv:MappingInversion +MONDO:0002568 tracheal stenosis skos:closeMatch NANDO:2200194 Tracheal stenosis semapv:MappingInversion +MONDO:0002623 pediatric osteosarcoma skos:closeMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0002637 histiocytosis skos:closeMatch NANDO:2100005 Histiocytosis semapv:MappingInversion +MONDO:0002676 adult fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0002678 pediatric fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0002714 central nervous system cancer skos:closeMatch NANDO:2100007 Central nervous system tumors semapv:MappingInversion +MONDO:0002718 central nervous system teratoma skos:closeMatch NANDO:2200104 Teratoma of the central nervous system semapv:MappingInversion +MONDO:0002728 rhabdoid tumor skos:closeMatch NANDO:2200057 Malignant rhabdoid tumour semapv:MappingInversion +MONDO:0002794 adult medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0002797 childhood medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0002807 bronchial neoplasm skos:closeMatch NANDO:2200081 Bronchial tumour semapv:MappingInversion +MONDO:0002869 heart valve disorder skos:closeMatch NANDO:2100105 Valvular heart disease semapv:MappingInversion +MONDO:0002870 tricuspid valve insufficiency skos:closeMatch NANDO:2200301 Tricuspid valve regurgitation semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:closeMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:closeMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0002926 clear cell sarcoma skos:closeMatch NANDO:2200062 Clear cell sarcoma semapv:MappingInversion +MONDO:0002933 osteosclerosis skos:closeMatch NANDO:2201022 Osteosclerotic diseases semapv:MappingInversion +MONDO:0003002 dysgerminoma skos:closeMatch NANDO:2200066 Dysgerminoma semapv:MappingInversion +MONDO:0003057 pediatric meningioma skos:closeMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0003075 bilateral retinoblastoma skos:closeMatch NANDO:2201038 Bilateral retinoblastoma semapv:MappingInversion +MONDO:0003136 anti-basement membrane glomerulonephritis skos:closeMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:closeMatch NANDO:1201029 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:closeMatch NANDO:2200122 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:closeMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:closeMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0003330 urinary tract obstruction skos:closeMatch NANDO:2200178 Obstructive uropathy semapv:MappingInversion +MONDO:0003517 mature teratoma skos:closeMatch NANDO:2200105 Mature teratoma semapv:MappingInversion +MONDO:0003523 gastrin-producing neuroendocrine tumor skos:closeMatch NANDO:2200395 Gastrinoma semapv:MappingInversion +MONDO:0003585 adult liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003587 pediatric liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003659 pediatric lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0003660 adult lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0003664 hemolytic anemia skos:closeMatch NANDO:2200636 Hemolytic anemia semapv:MappingInversion +MONDO:0003689 familial hemolytic anemia skos:closeMatch NANDO:2100183 Hereditary hemolytic anemia semapv:MappingInversion +MONDO:0003759 childhood ovarian yolk sac tumor skos:closeMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:closeMatch NANDO:1200320 Primary immunodeficiency syndrome semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:closeMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0003832 complement deficiency skos:closeMatch NANDO:1200364 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0003832 complement deficiency skos:closeMatch NANDO:2200776 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0003900 connective tissue disorder skos:closeMatch NANDO:2100172 Connective tissue disorder semapv:MappingInversion +MONDO:0003924 adrenal cortex adenoma skos:closeMatch NANDO:2200352 Adrenal adenoma semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:closeMatch NANDO:1200345 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:closeMatch NANDO:2200718 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:closeMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:closeMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0004000 childhood pilocytic astrocytoma skos:closeMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0004218 childhood germ cell brain tumor skos:closeMatch NANDO:2200108 Intracranial germ cell tumour semapv:MappingInversion +MONDO:0004335 digestive system disorder skos:closeMatch NANDO:1100013 Gastrointestinal disease semapv:MappingInversion +MONDO:0004355 childhood leukemia skos:closeMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:closeMatch NANDO:2100119 Hyperthyroidism semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:closeMatch NANDO:2200329 Hyperthyroidism semapv:MappingInversion +MONDO:0004471 bacterial arthritis skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0004591 impetigo herpetiformis skos:closeMatch NANDO:1200243 Impetigo herpetiformis semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch NANDO:1200368 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch NANDO:2200153 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0004737 homocystinuria skos:closeMatch NANDO:1201038 Homocystinuria semapv:MappingInversion +MONDO:0004737 homocystinuria skos:closeMatch NANDO:2200474 Homocystinuria semapv:MappingInversion +MONDO:0004739 urea cycle disorder skos:closeMatch NANDO:1200802 Urea cycle disorder semapv:MappingInversion +MONDO:0004782 diabetes insipidus skos:closeMatch NANDO:2100117 Diabetes insipidus semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:closeMatch NANDO:2100036 Bronchiectasis semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:closeMatch NANDO:2200206 Bronchiectasis semapv:MappingInversion +MONDO:0004890 partial central choroid dystrophy skos:closeMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:1200705 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:2100071 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:2200249 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004952 Hodgkins lymphoma skos:closeMatch NANDO:2200024 Hodgkin lymphoma semapv:MappingInversion +MONDO:0004955 obsolete metabolic syndrome skos:closeMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0004963 T-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200003 T-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:closeMatch NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified semapv:MappingInversion +MONDO:0004974 adrenal gland pheochromocytoma skos:closeMatch NANDO:2200078 Pheochromocytoma semapv:MappingInversion +MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch NANDO:1200002 Amyotrophic lateral sclerosis semapv:MappingInversion +MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch NANDO:2200029 Angioimmunoblastic T-cell lymphoma semapv:MappingInversion +MONDO:0004978 obsolete aortic stenosis skos:closeMatch NANDO:2100098 Aortic stenosis semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:closeMatch NANDO:2100051 Atrial fibrillation semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:closeMatch NANDO:2200226 Atrial fibrillation semapv:MappingInversion +MONDO:0004995 cardiovascular disorder skos:closeMatch NANDO:1100005 Cardiovascular disease semapv:MappingInversion +MONDO:0004997 chondroblastoma skos:closeMatch NANDO:2200051 Chondroblastoma semapv:MappingInversion +MONDO:0005006 clear cell sarcoma of kidney skos:closeMatch NANDO:2200044 Clear cell sarcoma of the kidney semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:1200444 Crohn's disease semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:2200921 Crohn's disease semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:closeMatch NANDO:2100157 Diabetes semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:closeMatch NANDO:2100158 Diabetes semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:closeMatch NANDO:2100057 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:closeMatch NANDO:2200232 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:closeMatch NANDO:2100194 Essential thrombocythemia semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:closeMatch NANDO:2200655 Essential thrombocythemia semapv:MappingInversion +MONDO:0005035 ganglioneuroblastoma skos:closeMatch NANDO:2200041 Ganglioneuroblastoma semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:1200286 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:1200288 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2100054 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2200229 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2201042 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0005046 immune system disorder skos:closeMatch NANDO:1100004 Immune system disease semapv:MappingInversion +MONDO:0005046 immune system disorder skos:closeMatch NANDO:2100202 Immune system disease semapv:MappingInversion +MONDO:0005058 leiomyosarcoma skos:closeMatch NANDO:2200064 Leiomyosarcoma semapv:MappingInversion +MONDO:0005059 leukemia skos:closeMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0005060 liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0005062 lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0005066 metabolic disease skos:closeMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0005068 myocardial infarction skos:closeMatch NANDO:2200248 Myocardial infarction semapv:MappingInversion +MONDO:0005072 neuroblastoma skos:closeMatch NANDO:2200040 Neuroblastoma semapv:MappingInversion +MONDO:0005086 renal cell carcinoma skos:closeMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0005087 respiratory system disorder skos:closeMatch NANDO:1100010 Respiratory disease semapv:MappingInversion +MONDO:0005093 skin disorder skos:closeMatch NANDO:2100281 Skin disease semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:closeMatch NANDO:1200277 Systemic sclerosis semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:closeMatch NANDO:2200429 Systemic sclerosis semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:closeMatch NANDO:1200449 Ulcerative colitis semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:closeMatch NANDO:2200920 Ulcerative colitis semapv:MappingInversion +MONDO:0005102 undifferentiated (embryonal) sarcoma skos:closeMatch NANDO:2200058 Undifferentiated sarcoma semapv:MappingInversion +MONDO:0005105 melanoma skos:closeMatch NANDO:2200077 Malignant melanoma semapv:MappingInversion +MONDO:0005109 HIV infectious disease skos:closeMatch NANDO:2200810 HIV infection semapv:MappingInversion +MONDO:0005147 type 1 diabetes mellitus skos:closeMatch NANDO:2200460 Diabetes mellitus type 1 semapv:MappingInversion +MONDO:0005148 type 2 diabetes mellitus skos:closeMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:closeMatch NANDO:1100009 Endocrine disease semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:closeMatch NANDO:2100109 Endocrine disease semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:closeMatch NANDO:1200387 Hypopituitarism syndrome semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:closeMatch NANDO:2100110 Hypopituitarism semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:closeMatch NANDO:2100268 Liver cirrhosis semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:closeMatch NANDO:2200937 Liver cirrhosis semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:closeMatch NANDO:2100101 Aortic aneurysm semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:closeMatch NANDO:2200294 Aortic aneurysm semapv:MappingInversion +MONDO:0005164 fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0005180 Parkinson disease skos:closeMatch NANDO:1200010 Parkinson's disease semapv:MappingInversion +MONDO:0005181 progressive external ophthalmoplegia skos:closeMatch NANDO:1200174 Chronic progressive external ophthalmoplegia semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:1200292 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:1200293 Idiopathic restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:2100058 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:2200233 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005204 primary antiphospholipid syndrome skos:closeMatch NANDO:1200267 Primary antiphospholipid antibody syndrome semapv:MappingInversion +MONDO:0005207 choriocarcinoma skos:closeMatch NANDO:2200070 Choriocarcinoma semapv:MappingInversion +MONDO:0005212 rhabdomyosarcoma skos:closeMatch NANDO:2200056 Rhabdomyosarcoma semapv:MappingInversion +MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch NANDO:2200004 Acute myeloid leukemia with minimal differentiation semapv:MappingInversion +MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch NANDO:2200005 Acute myeloid leukemia without maturation semapv:MappingInversion +MONDO:0005265 inflammatory bowel disease skos:closeMatch NANDO:2100259 Inflammatory bowel disease semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:closeMatch NANDO:2100008 Chronic kidney disease semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:closeMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:1200023 Multiple sclerosis semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:2100250 Multiple sclerosis semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:2200904 Multiple sclerosis semapv:MappingInversion +MONDO:0005306 ankylosing spondylitis skos:closeMatch NANDO:1200870 Ankylosing spondylitis semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2100050 Atrial flutter semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2200225 Atrial flutter semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:closeMatch NANDO:1200024 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:closeMatch NANDO:2201319 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:closeMatch NANDO:1200366 IgA nephropathy semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:closeMatch NANDO:2200121 IgA nephropathy semapv:MappingInversion +MONDO:0005361 eosinophilic esophagitis skos:closeMatch NANDO:1200456 Eosinophilic esophagitis semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:closeMatch NANDO:1200722 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:closeMatch NANDO:2200113 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0005364 Graves disease skos:closeMatch NANDO:2200328 Basedow disease semapv:MappingInversion +MONDO:0005369 carcinoid tumor skos:closeMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:closeMatch NANDO:1200721 Membranous nephropathy semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:closeMatch NANDO:2200114 Membranous nephropathy semapv:MappingInversion +MONDO:0005377 nephrotic syndrome skos:closeMatch NANDO:2100009 Nephrotic syndrome semapv:MappingInversion +MONDO:0005381 bone disorder skos:closeMatch NANDO:2100291 Bone disease semapv:MappingInversion +MONDO:0005381 bone disorder skos:closeMatch NANDO:2100293 Bone disease semapv:MappingInversion +MONDO:0005385 vascular disorder skos:closeMatch NANDO:2100294 Vascular disease semapv:MappingInversion +MONDO:0005387 primary ovarian failure skos:closeMatch NANDO:2100139 Hypergonadotropic hypogonadism semapv:MappingInversion +MONDO:0005388 primary biliary cholangitis skos:closeMatch NANDO:1200439 Primary biliary cholangitis semapv:MappingInversion +MONDO:0005420 hypothyroidism skos:closeMatch NANDO:2100120 Hypothyroidism semapv:MappingInversion +MONDO:0005429 prion disease skos:closeMatch NANDO:1200186 Prion disease semapv:MappingInversion +MONDO:0005437 testicular dysgenesis syndrome skos:closeMatch NANDO:2200383 Testicular dysgenesis semapv:MappingInversion +MONDO:0005439 familial hypercholesterolemia skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0005440 embryonal carcinoma skos:closeMatch NANDO:2200067 Embryonal carcinoma semapv:MappingInversion +MONDO:0005477 ventricular tachycardia skos:closeMatch NANDO:2100049 Ventricular tachycardia semapv:MappingInversion +MONDO:0005479 atrial tachycardia skos:closeMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2201014 Multiple cartilaginous exostosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0005532 Crohn's colitis skos:closeMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005533 distal colitis skos:closeMatch NANDO:1200451 Left-sided colitis semapv:MappingInversion +MONDO:0005534 ileocolitis skos:closeMatch NANDO:1200447 Crohn ileocolitis semapv:MappingInversion +MONDO:0005536 pancolitis skos:closeMatch NANDO:1200450 Pan-ulcerative colitis semapv:MappingInversion +MONDO:0005539 small bowel Crohn disease skos:closeMatch NANDO:1200445 small bowel Crohn disease semapv:MappingInversion +MONDO:0005549 renal cell adenocarcinoma skos:closeMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:closeMatch NANDO:2100151 Collagen disease semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:closeMatch NANDO:2100152 Collagen disease semapv:MappingInversion +MONDO:0005556 lupus nephritis skos:closeMatch NANDO:2200128 Lupus nephritis semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:closeMatch NANDO:1100006 Blood disease semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:closeMatch NANDO:2100175 Blood disease semapv:MappingInversion +MONDO:0005624 atrophic thyroiditis skos:closeMatch NANDO:2200336 Atrophic thyroiditis semapv:MappingInversion +MONDO:0005648 aortic valve insufficiency skos:closeMatch NANDO:2200307 Aortic valve regurgitation semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:1200911 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:2100040 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:2200210 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005713 obsolete MONDO:0005713 skos:closeMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0005715 congenital toxoplasmosis skos:closeMatch NANDO:2200892 Congenital toxoplasmosis semapv:MappingInversion +MONDO:0005744 yolk sac tumor skos:closeMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch NANDO:2200034 Follicular dendritic cell sarcoma semapv:MappingInversion +MONDO:0005775 G6PD deficiency skos:closeMatch NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:closeMatch NANDO:2100115 Hyperprolactinemia semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:closeMatch NANDO:2200322 Hyperprolactinemia semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:closeMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:closeMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch NANDO:2200035 Interdigitating dendritic cell sarcoma semapv:MappingInversion +MONDO:0005827 lipoatrophic diabetes skos:closeMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:closeMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:closeMatch NANDO:2200302 Mitral valve stenosis semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:closeMatch NANDO:1200278 Mixed connective tissue disease semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:closeMatch NANDO:2200430 Mixed connective tissue disease semapv:MappingInversion +MONDO:0005965 spinal stenosis skos:closeMatch NANDO:1200372 Coexisting cervical and lumbar spinal stenosis semapv:MappingInversion +MONDO:0005997 tricuspid valve stenosis skos:closeMatch NANDO:2200300 Tricuspid valve stenosis semapv:MappingInversion +MONDO:0006007 vesicoureteral reflux skos:closeMatch NANDO:2200179 Vesicoureteral reflux semapv:MappingInversion +MONDO:0006055 sex cord-stromal tumor skos:closeMatch NANDO:2200072 Sex-cord stromal tumour semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch NANDO:1200385 Growth hormone secreting pituitary adenoma semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone semapv:MappingInversion +MONDO:0006287 malignancy in giant cell tumor of bone skos:closeMatch NANDO:2200052 Malignancy in giant cell tumour of bone semapv:MappingInversion +MONDO:0006373 pituitary gland adenoma skos:closeMatch NANDO:2200095 Pituitary adenoma semapv:MappingInversion +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0006444 teratoma with malignant transformation skos:closeMatch NANDO:2200107 Teratoma with malignant transformation semapv:MappingInversion +MONDO:0006451 thymic carcinoma skos:closeMatch NANDO:2200079 Malignant thymoma semapv:MappingInversion +MONDO:0006536 congenital generalized lipodystrophy skos:closeMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:1200234 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:2100284 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:2201000 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:1200858 Lipodystrophy semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:2100147 Lipodystrophy semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:2200404 Lipodystrophy semapv:MappingInversion +MONDO:0006594 pemphigus skos:closeMatch NANDO:1200228 Pemphigus semapv:MappingInversion +MONDO:0006639 adrenal cortex carcinoma skos:closeMatch NANDO:2200073 Adrenocortical carcinoma semapv:MappingInversion +MONDO:0006656 aortitis skos:closeMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0006656 aortitis skos:closeMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:closeMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:closeMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0006664 atrial septal defect skos:closeMatch NANDO:2100085 Atrial septal defect semapv:MappingInversion +MONDO:0006689 obsolete carcinoid syndrome skos:closeMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:closeMatch NANDO:2100064 Constrictive pericarditis semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:closeMatch NANDO:2200239 Constrictive pericarditis semapv:MappingInversion +MONDO:0006715 coronary stenosis skos:closeMatch NANDO:2200246 Stenosis or atresia of coronary artery semapv:MappingInversion +MONDO:0006779 heart aneurysm skos:closeMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0006785 obsolete Henoch-Schoenlein purpura skos:closeMatch NANDO:1200741 Henoch-Schonlein purpura nephritis semapv:MappingInversion +MONDO:0006795 hypersplenism skos:closeMatch NANDO:2200637 Hypersplenism semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006823 Klinefelter syndrome skos:closeMatch NANDO:2200386 Klinefelter syndrome semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:closeMatch NANDO:1200720 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:closeMatch NANDO:2200112 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:closeMatch NANDO:2100092 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:closeMatch NANDO:2200276 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006936 pulmonary valve stenosis skos:closeMatch NANDO:2200304 Pulmonary valve stenosis semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:closeMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:closeMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:closeMatch NANDO:2100093 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:closeMatch NANDO:2200277 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0007012 variant Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200194 Variant Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0007032 prune belly syndrome skos:closeMatch NANDO:2200185 Prune belly syndrome semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:closeMatch NANDO:1200877 Achondroplasia semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:closeMatch NANDO:2201009 Achondroplasia semapv:MappingInversion +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:closeMatch NANDO:1200667 Apert syndrome semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:closeMatch NANDO:2200844 Apert syndrome semapv:MappingInversion +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch NANDO:2200848 Saethre-Chotzen syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:closeMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:closeMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch NANDO:1200323 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch NANDO:2200696 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0007078 Pseudohypoparathyroidism type 1A skos:closeMatch NANDO:1201075 Pseudohypoparathyroidism type 1A semapv:MappingInversion +MONDO:0007097 Finnish type amyloidosis skos:closeMatch NANDO:1201063 Familial amyloid polyneuropathy type 4 semapv:MappingInversion +MONDO:0007099 familial visceral amyloidosis skos:closeMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:closeMatch NANDO:1200214 Familial amyloid polyneuropathy semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:closeMatch NANDO:1201060 Familial amyloid polyneuropathy type 1 semapv:MappingInversion +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch NANDO:1200888 Congenital dyserythropoietic anemia type III semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:closeMatch NANDO:1200686 Angelman syndrome semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:closeMatch NANDO:2200960 Angelman syndrome semapv:MappingInversion +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch NANDO:2200271 Total anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:closeMatch NANDO:1200271 Antiphospholipid antibody-related disease semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:closeMatch NANDO:2200421 Anti-phospholipid antibody syndrome semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch NANDO:2100229 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch NANDO:2200851 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch NANDO:2201354 Stickler syndrome type 1 semapv:MappingInversion +MONDO:0007182 Machado-Joseph disease skos:closeMatch NANDO:1200041 Spinocerebellar ataxia type 3 semapv:MappingInversion +MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch NANDO:2200828 Gorlin syndrome semapv:MappingInversion +MONDO:0007191 Behcet disease skos:closeMatch NANDO:1200284 Behcet's disease semapv:MappingInversion +MONDO:0007191 Behcet disease skos:closeMatch NANDO:2200422 Behcet's disease semapv:MappingInversion +MONDO:0007203 blue rubber bleb nevus skos:closeMatch NANDO:2201027 Blue rubber bleb nevus syndrome semapv:MappingInversion +MONDO:0007256 hepatocellular carcinoma skos:closeMatch NANDO:2200047 Hepatocellular carcinoma semapv:MappingInversion +MONDO:0007294 central core myopathy skos:closeMatch NANDO:1200479 Central core disease semapv:MappingInversion +MONDO:0007294 central core myopathy skos:closeMatch NANDO:2200870 Central core disease semapv:MappingInversion +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NANDO:1200044 Spinocerebellar ataxia type 31 semapv:MappingInversion +MONDO:0007315 cherubism skos:closeMatch NANDO:2200444 Cherubism semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:1200918 Alagille syndrome semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:1200919 Typical Alagille syndrome semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:2200931 Alagille syndrome semapv:MappingInversion +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type semapv:MappingInversion +MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch NANDO:1200519 Dystonia 8 semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:closeMatch NANDO:2200283 Coarctation of the aorta semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:closeMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:closeMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:closeMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch NANDO:2201026 Beals syndrome semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:closeMatch NANDO:1200813 Hereditary coproporphyria semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:closeMatch NANDO:2201264 Hereditary coproporphyria semapv:MappingInversion +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200189 Familial Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch NANDO:1200684 5p deletion syndrome semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch NANDO:2200961 5p- syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:closeMatch NANDO:1200666 Crouzon's syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:closeMatch NANDO:2200845 Crouzon disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:closeMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:closeMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy semapv:MappingInversion +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch NANDO:1200043 Dentatorubropallidoluysian atrophy semapv:MappingInversion +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch NANDO:2201050 Familial central diabetes insipidus semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch NANDO:2201069 Maturity-onset diabetes of the young type 1 semapv:MappingInversion +MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch NANDO:2201070 Maturity-onset diabetes of the young type 2 semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:2100240 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:2200884 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0007493 torsion dystonia 4 skos:closeMatch NANDO:1200515 Dystonia 4 semapv:MappingInversion +MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 skos:closeMatch NANDO:1200521 Dystonia 10 semapv:MappingInversion +MONDO:0007495 dystonia 5 skos:closeMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:closeMatch NANDO:1200523 Dystonia 12 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:closeMatch NANDO:1200524 Rapid-onset dystonia-parkinsonism semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NANDO:1200646 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NANDO:2201256 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch NANDO:2200959 Beckwith-Wiedemann syndrome semapv:MappingInversion +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch NANDO:2200405 Multiple endocrine neoplasia type 1 semapv:MappingInversion +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch NANDO:2200970 Camurati-Engelmann disease semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome semapv:MappingInversion +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch NANDO:2201073 Maturity-onset diabetes of the young type 5 semapv:MappingInversion +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007699 Hashimoto thyroiditis skos:closeMatch NANDO:2200335 Hashimoto disease semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch NANDO:2100297 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch NANDO:2201035 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch NANDO:1200472 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch NANDO:2200433 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0007739 Huntington disease skos:closeMatch NANDO:1200012 Huntington's disease semapv:MappingInversion +MONDO:0007741 congenital hydronephrosis skos:closeMatch NANDO:2200176 Ureteropelvic junction obstruction semapv:MappingInversion +MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0007793 hypochondroplasia skos:closeMatch NANDO:2201010 Hypochondroplasia semapv:MappingInversion +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch NANDO:1200382 Idiopathic hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0007803 multiple system atrophy skos:closeMatch NANDO:1200034 Multiple system atrophy semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch NANDO:1200613 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch NANDO:2200990 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:closeMatch NANDO:1200032 Sporadic inclusion body myositis semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch NANDO:1200884 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch NANDO:2201030 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0007875 Larsen syndrome skos:closeMatch NANDO:2201019 Larsen syndrome semapv:MappingInversion +MONDO:0007879 larynx atresia skos:closeMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch NANDO:2201347 Platyspondylic dysplasia, Torrance type semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:closeMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:closeMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:closeMatch NANDO:1200272 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:closeMatch NANDO:2200416 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:closeMatch NANDO:1200644 Marfan syndrome semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:closeMatch NANDO:2200968 Marfan syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:1200893 Epstein syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2100193 May-Hegglin anomaly semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2200127 Epstein syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2200654 May-Hegglin anomaly semapv:MappingInversion +MONDO:0007959 medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0007970 melorheostosis skos:closeMatch NANDO:2201364 Melorheostosis semapv:MappingInversion +MONDO:0007987 Kniest dysplasia skos:closeMatch NANDO:2201350 Kniest dysplasia semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:closeMatch NANDO:1200559 Moebius syndrome semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:closeMatch NANDO:2200980 Moebius syndrome semapv:MappingInversion +MONDO:0008029 Bethlem myopathy skos:closeMatch NANDO:1200220 Bethlem Myopathy semapv:MappingInversion +MONDO:0008039 tropical spastic paraparesis skos:closeMatch NANDO:1200206 HTLV-1-associated myelopathy semapv:MappingInversion +MONDO:0008054 juvenile dermatomyositis skos:closeMatch NANDO:2200418 Juvenile dermatomyositis semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:closeMatch NANDO:1200967 Nail-patella syndrome semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:closeMatch NANDO:2200132 Nail-patella syndrome semapv:MappingInversion +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch NANDO:2201053 Multiple endocrine neoplasia type 2B semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:closeMatch NANDO:1200354 Cyclic neutropenia semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:closeMatch NANDO:2200746 Cyclic neutropenia semapv:MappingInversion +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch NANDO:1200493 Oculopharyngeal muscular dystrophy semapv:MappingInversion +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch NANDO:1200045 Spinocerebellar ataxia type 1 semapv:MappingInversion +MONDO:0008120 obsolete spinocerebellar ataxia type 7 skos:closeMatch NANDO:1200047 Spinocerebellar ataxia type 7 semapv:MappingInversion +MONDO:0008145 Ollier disease skos:closeMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0008145 Ollier disease skos:closeMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch NANDO:1200921 Hereditary pancreatitis semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch NANDO:2200942 Hereditary pancreatitis semapv:MappingInversion +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch NANDO:1200501 Paramyotonia congenita semapv:MappingInversion +MONDO:0008201 Perry syndrome skos:closeMatch NANDO:1200547 Perry syndrome semapv:MappingInversion +MONDO:0008218 Hailey-Hailey disease skos:closeMatch NANDO:1200631 Benign familial pemphigus semapv:MappingInversion +MONDO:0008219 pemphigus vulgaris skos:closeMatch NANDO:1200229 Pemphigus vulgaris semapv:MappingInversion +MONDO:0008221 prolidase deficiency skos:closeMatch NANDO:2200472 Prolidase deficiency semapv:MappingInversion +MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch NANDO:1200503 Hereditary hypokalemic periodic paralysis semapv:MappingInversion +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch NANDO:1200504 Hereditary hyperkalemic periodic paralysis semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch NANDO:2201052 Multiple endocrine neoplasia type 2A semapv:MappingInversion +MONDO:0008260 Kindler syndrome skos:closeMatch NANDO:1200239 Kindler syndrome semapv:MappingInversion +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch NANDO:2200917 Peutz-Jeghers syndrome semapv:MappingInversion +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch NANDO:1200901 Cronkhite-Canada syndrome semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:closeMatch NANDO:1200812 Acute intermittent porphyria semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:closeMatch NANDO:2201263 Acute intermittent porphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:closeMatch NANDO:1200814 Variegate porphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:closeMatch NANDO:2201265 Variegate porphyria semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:closeMatch NANDO:1200678 Prader-Willi syndrome semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:closeMatch NANDO:2200411 Prader-Willi syndrome semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch NANDO:1201007 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch NANDO:2200833 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008322 pseudoachondroplasia skos:closeMatch NANDO:2201018 Pseudoachondroplasia semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:closeMatch NANDO:2100131 Liddle syndrome semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:closeMatch NANDO:2200363 Liddle syndrome semapv:MappingInversion +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch NANDO:2200668 Platelet-type von Willebrand disease semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch NANDO:1200708 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch NANDO:2200252 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0008345 obsolete idiopathic pulmonary fibrosis skos:closeMatch NANDO:1200417 Idiopathic pulmonary fibrosis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:1200751 Alveolar hypoventilation syndrome semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:2100037 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:2200207 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia semapv:MappingInversion +MONDO:0008380 retinoblastoma skos:closeMatch NANDO:2200042 Retinoblastoma semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:2200820 Septo-optic dysplasia semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NANDO:1200687 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NANDO:2200954 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NANDO:1200042 Spinocerebellar ataxia type 6 semapv:MappingInversion +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NANDO:1200046 Spinocerebellar ataxia type 2 semapv:MappingInversion +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch NANDO:2201348 Spondyloepiphyseal dysplasia congenita semapv:MappingInversion +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:closeMatch NANDO:2100149 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:closeMatch NANDO:2200409 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NANDO:1200606 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NANDO:2200830 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0008503 Worster-Drought syndrome skos:closeMatch NANDO:1200558 Congenital suprabulbar paresis semapv:MappingInversion +MONDO:0008504 supravalvular aortic stenosis skos:closeMatch NANDO:2200285 Supravalvular aortic stenosis semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:closeMatch NANDO:1200476 Blau syndrome semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:closeMatch NANDO:2200434 Blau syndrome, early onset sarcoidosis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200258 Giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200259 Cranial giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200260 Large-vessel giant cell arteritis semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:1200709 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:2100075 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:2200254 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NANDO:1200875 Thanatophoric dysplasia type 1 semapv:MappingInversion +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch NANDO:1200876 Thanatophoric dysplasia type 2 semapv:MappingInversion +MONDO:0008555 thrombocytopenia 2 skos:closeMatch NANDO:2200663 Autosomal dominant thrombocytopenia 2 semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:closeMatch NANDO:2100192 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:closeMatch NANDO:2200653 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch NANDO:1200315 Idiopathic thrombocytopenic purpura semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch NANDO:2200645 Immune thrombocytopenic purpura semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0008608 Down syndrome skos:closeMatch NANDO:2200965 Down syndrome semapv:MappingInversion +MONDO:0008628 ureterocele skos:closeMatch NANDO:2200183 Ureteroceles semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NANDO:1200467 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NANDO:2201067 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:closeMatch NANDO:1200657 VATER syndrome semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:closeMatch NANDO:2200983 VATER syndrome semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch NANDO:2200408 Von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch NANDO:2200829 von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008674 obsolete WHIM syndrome skos:closeMatch NANDO:2200767 WHIM syndrome semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:closeMatch NANDO:1200664 Williams syndrome semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:closeMatch NANDO:2200286 Williams syndrome semapv:MappingInversion +MONDO:0008682 Denys-Drash syndrome skos:closeMatch NANDO:2200116 Denys-Drash syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch NANDO:1200683 4p deletion syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch NANDO:2200962 4p- Syndrome semapv:MappingInversion +MONDO:0008685 Wolff-Parkinson-White syndrome skos:closeMatch NANDO:2200217 Supraventricular tachycardia due to WPW syndrome semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:closeMatch NANDO:1200857 Abetalipoproteinemia semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:closeMatch NANDO:2200604 Abetalipoproteinemia semapv:MappingInversion +MONDO:0008695 chorea-acanthocytosis skos:closeMatch NANDO:1200014 Chorea-acanthocytosis semapv:MappingInversion +MONDO:0008702 achondrogenesis type II skos:closeMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0008713 acrodermatitis enteropathica skos:closeMatch NANDO:2200584 Acrodermatitis enteropathica semapv:MappingInversion +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NANDO:1200399 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NANDO:2200374 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NANDO:1200400 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NANDO:2200372 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch NANDO:1200401 17-α-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch NANDO:2200373 17 alpha-hydroxylase deficiency semapv:MappingInversion +MONDO:0008737 congenital afibrinogenemia skos:closeMatch NANDO:2200672 Afibrinogenemia semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:closeMatch NANDO:1200460 Congenital isolated hypoganglionosis semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:closeMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch NANDO:1201078 Pseudohypoparathyroidism type 2 semapv:MappingInversion +MONDO:0008752 Alexander disease skos:closeMatch NANDO:1200554 Alexander disease semapv:MappingInversion +MONDO:0008752 Alexander disease skos:closeMatch NANDO:2200835 Alexander disease semapv:MappingInversion +MONDO:0008753 alkaptonuria skos:closeMatch NANDO:2200504 Alkaptonuria semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NANDO:1200987 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NANDO:2200493 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch NANDO:1201006 Gelatinous drop-like corneal dystrophy semapv:MappingInversion +MONDO:0008783 Tangier disease skos:closeMatch NANDO:1200854 Tangier disease semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch NANDO:1200669 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch NANDO:2200975 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:closeMatch NANDO:1200807 Argininemia semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:closeMatch NANDO:2200482 Hyperargininemia semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:closeMatch NANDO:1200806 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:closeMatch NANDO:2200481 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:closeMatch NANDO:1200133 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:closeMatch NANDO:2200555 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:closeMatch NANDO:1200331 Ataxia telangiectasia semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:closeMatch NANDO:2200705 Ataxia telangiectasia semapv:MappingInversion +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NANDO:1200051 Ataxia-oculomotor apraxia type 1 semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:closeMatch NANDO:2100180 Congenital atransferrinemia semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:closeMatch NANDO:2200617 Congenital atransferrinemia semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:1200753 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:2100032 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:2200198 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:closeMatch NANDO:1200329 MHC class II deficiency semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:closeMatch NANDO:2200702 MHC class II deficiency semapv:MappingInversion +MONDO:0008863 sitosterolemia skos:closeMatch NANDO:1200853 Sitosterolemia semapv:MappingInversion +MONDO:0008867 biliary atresia skos:closeMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0008867 biliary atresia skos:closeMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:closeMatch NANDO:1200333 Bloom syndrome semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:closeMatch NANDO:2200707 Bloom syndrome semapv:MappingInversion +MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NANDO:2201040 Bronchomalacia semapv:MappingInversion +MONDO:0008889 thromboangiitis obliterans skos:closeMatch NANDO:1200266 Buerger's disease semapv:MappingInversion +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 semapv:MappingInversion +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch NANDO:2200773 CARD9 deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NANDO:1200972 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NANDO:2200511 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch NANDO:1200973 Systemic primary carnitine deficiency semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch NANDO:2200508 Organic cation transporter 2 deficiency semapv:MappingInversion +MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch NANDO:1200207 Idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch NANDO:1200856 Cerebrotendinous xanthomatosis semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200151 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201240 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:1200350 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:1200639 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:2200724 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:closeMatch NANDO:1200464 CHARGE syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:closeMatch NANDO:2200972 CHARGE syndrome semapv:MappingInversion +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 semapv:MappingInversion +MONDO:0008974 Greenberg dysplasia skos:closeMatch NANDO:2201361 Greenberg dysplasia semapv:MappingInversion +MONDO:0008977 chondrosarcoma skos:closeMatch NANDO:2200050 Chondrosarcoma semapv:MappingInversion +MONDO:0008978 chordoma skos:closeMatch NANDO:2200098 Chordoma semapv:MappingInversion +MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:closeMatch NANDO:1200805 Classic citrullinemia semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:closeMatch NANDO:2200480 Argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0008996 obsolete COACH syndrome 1 skos:closeMatch NANDO:1201050 COACH syndrome semapv:MappingInversion +MONDO:0008999 Cohen syndrome skos:closeMatch NANDO:2200750 Cohen syndrome semapv:MappingInversion +MONDO:0009006 complement component 2 deficiency skos:closeMatch NANDO:2200781 C2 deficiency semapv:MappingInversion +MONDO:0009010 aortic arch interruption skos:closeMatch NANDO:2200288 Interruption of aortic arch complex semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:closeMatch NANDO:1200463 Costello syndrome semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:closeMatch NANDO:2200971 Costello syndrome semapv:MappingInversion +MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch NANDO:2201368 Craniodiaphyseal dysplasia semapv:MappingInversion +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch NANDO:1201059 Baller-Gerold syndrome semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch NANDO:2100272 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch NANDO:2200941 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NANDO:1200379 Cushing disease semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NANDO:2200350 Cushing disease semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:1200922 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:1201021 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:2100035 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:2200205 Cystic fibrosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:closeMatch NANDO:1200164 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:closeMatch NANDO:2201236 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch NANDO:1200163 Intermediate cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch NANDO:2201235 Intermediate cystinosis semapv:MappingInversion +MONDO:0009067 cystinuria skos:closeMatch NANDO:2200489 Cystinuria semapv:MappingInversion +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch NANDO:2200821 Dandy-Walker syndrome semapv:MappingInversion +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch NANDO:1200658 Nasu-Hakola disease semapv:MappingInversion +MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:closeMatch NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NANDO:1200809 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NANDO:2200488 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 semapv:MappingInversion +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch NANDO:2200908 Congenital sucrase-isomaltase deficiency semapv:MappingInversion +MONDO:0009116 obsolete lactose intolerance skos:closeMatch NANDO:2200907 Lactose intolerance semapv:MappingInversion +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch NANDO:2200597 Dopamine beta hydroxylase deficiency semapv:MappingInversion +MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch NANDO:1200887 Congenital dyserythropoietic anemia type II semapv:MappingInversion +MONDO:0009138 dysosteosclerosis skos:closeMatch NANDO:2201365 Dysosteosclerosis semapv:MappingInversion +MONDO:0009141 torsion dystonia 2 skos:closeMatch NANDO:1200513 Dystonia 2 semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:1200711 Ebstein's anomaly semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:2100080 Ebstein's anomaly semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:2200260 Ebstein's anomaly semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:closeMatch NANDO:2100060 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:closeMatch NANDO:2200235 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch NANDO:2200910 Enterokinase deficiency semapv:MappingInversion +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NANDO:2200768 Epidermodysplasia verruciformis semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NANDO:1200238 Recessive dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:1201065 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:2200119 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:2201378 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia semapv:MappingInversion +MONDO:0009194 immunodeficiency 32B skos:closeMatch NANDO:2200808 Chronic active EB virus infection semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch NANDO:1200086 Farber disease semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch NANDO:2200565 Farber disease semapv:MappingInversion +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch NANDO:2200685 High molecular weight kininogen deficiency semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:closeMatch NANDO:1200810 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:closeMatch NANDO:2200592 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0009249 hereditary fructose intolerance skos:closeMatch NANDO:2200531 Hereditary fructose intolerance semapv:MappingInversion +MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch NANDO:2200535 Fructose-1,6-bisphosphatase deficiency semapv:MappingInversion +MONDO:0009254 fucosidosis skos:closeMatch NANDO:1200130 Fucosidosis semapv:MappingInversion +MONDO:0009254 fucosidosis skos:closeMatch NANDO:2200553 Fucosidosis semapv:MappingInversion +MONDO:0009255 galactokinase deficiency skos:closeMatch NANDO:2200533 Galactokinase deficiency semapv:MappingInversion +MONDO:0009257 galactose epimerase deficiency skos:closeMatch NANDO:2200534 UDP-galactose-4-epimerase deficiency semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:closeMatch NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:closeMatch NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch NANDO:1200067 Infantile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch NANDO:2201196 GM1 gangliosidosis, infantile form semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch NANDO:1200068 Juvenile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch NANDO:2201197 GM1 gangliosidosis, juvenile form semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch NANDO:1200069 Adult GM1 gangliosidosis semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch NANDO:2201198 GM1 gangliosidosis, adult form semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:closeMatch NANDO:1200057 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:closeMatch NANDO:2201210 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:closeMatch NANDO:1200058 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:closeMatch NANDO:2201211 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:closeMatch NANDO:1200059 Gaucher disease type 3 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:closeMatch NANDO:2201212 Gaucher disease type 3 semapv:MappingInversion +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch NANDO:2200656 Bernard-Soulier syndrome semapv:MappingInversion +MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0009279 triple-A syndrome skos:closeMatch NANDO:1200410 Allgrove syndrome semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NANDO:1200800 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200501 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:1200801 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200502 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch NANDO:2201153 Glycogen storage disease type 1a semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:2200754 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:2201154 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:1200138 Pompe disease semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:1200825 Glycogen storage diseases type II semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:2200569 Pompe disease semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1200826 Glycogen storage diseases type III semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1200844 Hepatic GSD type IIIc semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1201019 Hepatic glycogen storage disease type III semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:2200539 Glycogen storage disease type III semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:1200850 Hepatic glycogen storage disease type IV semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:2200540 Glycogen storage disease type IV semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:closeMatch NANDO:1200828 Glycogen storage diseases type V semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:closeMatch NANDO:2200541 Glycogen storage disease type V semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:closeMatch NANDO:1200846 Hepatic glycogen storage disease type VI semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:closeMatch NANDO:2200542 Glycogen storage disease type VI semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:1200829 Glycogen storage diseases type VII semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:2200543 Glycogen storage disease type VII semapv:MappingInversion +MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch NANDO:2200384 Ovarian dysgenesis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:1200718 Goodpasture syndrome semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:2200125 Goodpasture syndrome semapv:MappingInversion +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch NANDO:2201280 p22phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch NANDO:2201281 p47phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch NANDO:2201282 p67phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009315 congenital factor XII deficiency skos:closeMatch NANDO:2200680 Factor XII deficiency semapv:MappingInversion +MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch NANDO:2200973 Hallermann-Streiff syndrome semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:2200886 Pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0009324 Hartnup disease skos:closeMatch NANDO:2200487 Hartnup disease semapv:MappingInversion +MONDO:0009326 congenital heart block skos:closeMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch NANDO:1200663 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch NANDO:2200981 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0009352 classic homocystinuria skos:closeMatch NANDO:1201039 Homocystinuria type 1 semapv:MappingInversion +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch NANDO:1201041 Homocystinuria type 3 semapv:MappingInversion +MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch NANDO:2201109 Methylcobalamin deficiency cblE type semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch NANDO:1200803 Carbamoyl phosphate synthetase I deficiency semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch NANDO:2200478 Carbamoylphosphate synthetase deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:1200808 NAGS deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:2200477 N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0009393 ornithine translocase deficiency skos:closeMatch NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:1200412 Autoimmune Addison's disease semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch NANDO:2200346 Autoimmune polyendocrinopathy type 1 semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:2200537 Glycogen synthase deficiency semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:2201151 Glycogen storage disease type 0a semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch NANDO:1200614 Harlequin ichthyosis semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch NANDO:2200992 Harlequin ichthyosis semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NANDO:1200337 Schimke syndrome semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NANDO:2200711 Schimke syndrome semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:closeMatch NANDO:1200798 Isovaleric acidemia semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:closeMatch NANDO:2200494 Isovaleric acidemia semapv:MappingInversion +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch NANDO:1200662 Arima syndrome semapv:MappingInversion +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:closeMatch NANDO:1200074 Krabbe disease semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:closeMatch NANDO:2200564 Krabbe disease semapv:MappingInversion +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch NANDO:1200602 Landau-Kleffner syndrome semapv:MappingInversion +MONDO:0009515 Norum disease skos:closeMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NANDO:2200497 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0009530 lipoid proteinosis skos:closeMatch NANDO:2200608 Lipoid proteinosis semapv:MappingInversion +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch NANDO:1201083 Miller Dieker syndrome semapv:MappingInversion +MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch NANDO:1200424 Lymphoid interstitial pneumonia semapv:MappingInversion +MONDO:0009561 alpha-mannosidosis skos:closeMatch NANDO:1200126 Alpha-mannosidosis semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:closeMatch NANDO:1200129 Beta-mannosidosis semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:closeMatch NANDO:2201190 Beta-mannosidosis semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:closeMatch NANDO:1200791 Maple syrup urine disease semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:closeMatch NANDO:2200473 Maple syrup urine disease semapv:MappingInversion +MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch NANDO:1200485 Marinesco-Sjogren syndrome semapv:MappingInversion +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NANDO:1200864 Typical familial Mediterranean fever semapv:MappingInversion +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch NANDO:2200827 Neurocutaneous melanosis semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch NANDO:1200082 Saposin B deficiency semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch NANDO:2201205 Saposin B deficiency semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NANDO:1200080 Juvenile ｍetachromatic leukodystrophy semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NANDO:2201203 Metachromatic leukodystrophy, juvenile form semapv:MappingInversion +MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch NANDO:1200990 3-methylglutaconic aciduria type I semapv:MappingInversion +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch NANDO:1200795 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch NANDO:2201105 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch NANDO:1200796 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch NANDO:2201106 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch NANDO:1200332 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch NANDO:2200706 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:1200713 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:2200120 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:2201385 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:closeMatch NANDO:2100255 Microvillus inclusion disease semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:closeMatch NANDO:2200913 Microvillus inclusion disease semapv:MappingInversion +MONDO:0009641 obsolete mitochondrial complex II deficiency skos:closeMatch NANDO:1200181 Mitochondrial complex II deficiency semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:closeMatch NANDO:1200124 Mucolipidosis II semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:closeMatch NANDO:2200567 Mucolipidosis II semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch NANDO:1200101 Sanfilippo disease type A semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch NANDO:2201174 Mucopolysaccharidosis type III A semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch NANDO:1200102 Sanfilippo disease type B semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch NANDO:2201175 Mucopolysaccharidosis type III B semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch NANDO:1200103 Sanfilippo disease type C semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch NANDO:2201176 Mucopolysaccharidosis type III C semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch NANDO:1200104 Sanfilippo disease type D semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch NANDO:2201177 Mucopolysaccharidosis type III D semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch NANDO:1200106 Morquio syndrome type A semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch NANDO:2201178 Mucopolysaccharidosis type IV A semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch NANDO:1200107 Morquio syndrome type B semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch NANDO:2201179 Mucopolysaccharidosis type IV B semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200108 Maroteaux-Lamy syndrome semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:2200551 Mucopolysaccharidosis type VI semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch NANDO:1200111 Sly syndrome semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch NANDO:2200552 Mucopolysaccharidosis type VII semapv:MappingInversion +MONDO:0009665 biotinidase deficiency skos:closeMatch NANDO:1200822 Biotinidase deficiency semapv:MappingInversion +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch NANDO:1200821 Holocarboxylase synthetase deficiency semapv:MappingInversion +MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch NANDO:1200004 Spinal muscular atrophy type I semapv:MappingInversion +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch NANDO:1200006 Spinal muscular atrophy type III semapv:MappingInversion +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch NANDO:1200005 Spinal muscular atrophy type II semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch NANDO:1200494 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch NANDO:2200860 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0009685 Miyoshi myopathy skos:closeMatch NANDO:1200217 Miyoshi myopathy semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:1200020 Myasthenia gravis semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:2100252 Myasthenia gravis semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:2200906 Myasthenia gravis semapv:MappingInversion +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:closeMatch NANDO:1200358 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:closeMatch NANDO:2200758 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0009697 Lafora disease skos:closeMatch NANDO:1200955 Lafora disease semapv:MappingInversion +MONDO:0009697 Lafora disease skos:closeMatch NANDO:2200881 Lafora disease semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NANDO:1200954 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NANDO:2200880 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch NANDO:1200970 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch NANDO:2200509 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:closeMatch NANDO:1200497 Myotonia congenita semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:closeMatch NANDO:1200498 Thomsen disease semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch NANDO:1200483 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch NANDO:2200868 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch NANDO:2200872 Minicore myopathy semapv:MappingInversion +MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch NANDO:1200499 Becker disease semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:1200224 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:2100235 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:2200876 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:closeMatch NANDO:1200175 Leigh's encephalomyelopathy semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:closeMatch NANDO:2200527 Leigh syndrome semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch NANDO:1200867 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch NANDO:2200435 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:closeMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:closeMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch NANDO:2200110 Congenital nephrotic syndrome of the Finnish type semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:1200338 Netherton syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:1200619 Netherton syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:2200993 Netherton syndrome semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:closeMatch NANDO:1200119 Galactosialidosis semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:closeMatch NANDO:2200557 Galactosialidosis semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:1200118 Sialidosis type 2 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:1200120 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:2201192 Sialidosis type 2 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:2201193 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009739 obsolete infantile neuroaxonal dystrophy skos:closeMatch NANDO:2200887 Infantile neuroaxonal dystrophy semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch NANDO:1200553 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch NANDO:2200854 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NANDO:1200061 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NANDO:2201206 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0009763 obesity-hypoventilation syndrome skos:closeMatch NANDO:1200752 Obesity hypoventilation syndrome semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:1200909 Cloacal exstrophy semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:1200910 Persistent cloaca semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:2200950 Persistent cloaca semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:2200951 Cloacal exstrophy semapv:MappingInversion +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch NANDO:1200992 3-methylglutaconic aciduria type III semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch NANDO:2200484 Hyperornithinemia semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch NANDO:2200486 Gyrate atrophy of choroid and retina semapv:MappingInversion +MONDO:0009797 orotic aciduria skos:closeMatch NANDO:2200590 Orotic aciduria semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009807 osteosarcoma skos:closeMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch NANDO:1200869 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch NANDO:2200438 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch NANDO:1200773 Primary hyperoxaluria type 1 semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch NANDO:1200356 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch NANDO:2200756 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200195 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200196 Typical subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200198 Subacute progressive sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:2100245 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:2200899 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009837 choroid plexus papilloma skos:closeMatch NANDO:2200093 Choroid plexus papilloma semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch NANDO:1200766 D-bifunctional protein deficiency semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:1200784 Phenylketonuria semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:1200785 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:2200467 Phenylketonuria semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:2201075 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch NANDO:1200832 Glycogen storage diseases type X semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:closeMatch NANDO:1200848 Hepatic glycogen storage disease type IXb semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:closeMatch NANDO:2201165 Glycogen storage disease type IXb semapv:MappingInversion +MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch NANDO:2200687 Alpha-2-plasmin inhibitor deficiency semapv:MappingInversion +MONDO:0009885 Scott syndrome skos:closeMatch NANDO:2200671 Scott syndrome semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch NANDO:1200422 Desquamative interstitial pneumonia semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch NANDO:1200369 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch NANDO:2200154 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:closeMatch NANDO:2100186 Polycythemia vera semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:closeMatch NANDO:2200643 Polycythemia vera semapv:MappingInversion +MONDO:0009897 adult polyglucosan body disease skos:closeMatch NANDO:2201163 Glycogen storage disease type IV, adult form semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:closeMatch NANDO:1200817 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:closeMatch NANDO:2201268 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:closeMatch NANDO:2100020 Gitelman syndrome semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:closeMatch NANDO:2200145 Gitelman syndrome semapv:MappingInversion +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency semapv:MappingInversion +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch NANDO:2200389 5 alpha-reductase deficiency semapv:MappingInversion +MONDO:0009924 vitamin D-dependent rickets, type 1 skos:closeMatch NANDO:1200782 Vitamin D-dependent rickets, type 1 semapv:MappingInversion +MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch NANDO:2200202 Pulmonary alveolar microlithiasis semapv:MappingInversion +MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:closeMatch NANDO:2200295 Pulmonary arteriovenous fistulae semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch NANDO:1200707 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch NANDO:2200253 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch NANDO:1200427 Pulmonary veno-occlusive disease semapv:MappingInversion +MONDO:0009940 pycnodysostosis skos:closeMatch NANDO:2201023 Pycnodysostosis semapv:MappingInversion +MONDO:0009943 Pyle disease skos:closeMatch NANDO:2201367 Metaphyseal dysplasias semapv:MappingInversion +MONDO:0009948 pyropoikilocytosis, hereditary skos:closeMatch NANDO:2200631 Hereditary pyropoikilocytosis semapv:MappingInversion +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch NANDO:2200519 Pyruvate carboxylase deficiency semapv:MappingInversion +MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:MappingInversion +MONDO:0009955 rapadilino syndrome skos:closeMatch NANDO:1201058 RAPADILINO syndrome semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:closeMatch NANDO:1200769 Refsum disease semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:closeMatch NANDO:2200577 Refsum disease semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:closeMatch NANDO:1200322 Reticular dysgenesis semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:closeMatch NANDO:2200695 Reticular dysgenesis semapv:MappingInversion +MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch NANDO:1200671 Rothmund-Thomson syndrome semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:closeMatch NANDO:1200072 Sandhoff disease semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:closeMatch NANDO:2201200 Sandhoff disease semapv:MappingInversion +MONDO:0010011 schizencephaly skos:closeMatch NANDO:1201073 Schizencephaly semapv:MappingInversion +MONDO:0010011 schizencephaly skos:closeMatch NANDO:2200818 Schizencephaly semapv:MappingInversion +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch NANDO:2200347 Autoimmune polyendocrinopathy type 2 semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NANDO:1200327 Zap-70 deficiency semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NANDO:2200700 ZAP-70 deficiency semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch NANDO:1200147 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch NANDO:2201237 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:1200279 Sjogren's syndrome semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:1200280 Primary Sjogren's syndrome semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:2200420 Sjogren's syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch NANDO:1200620 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch NANDO:2200994 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch NANDO:1200961 Smith-lemli-opitz syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch NANDO:2200979 Smith-Lemli-Opitz syndrome semapv:MappingInversion +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch NANDO:2200320 IGF1 insensitivity semapv:MappingInversion +MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch NANDO:1200007 Spinal muscular atrophy type IV semapv:MappingInversion +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch NANDO:2200775 Isolated congenital asplenia semapv:MappingInversion +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch NANDO:2201351 Spondyloperipheral dysplasia semapv:MappingInversion +MONDO:0010079 Canavan disease skos:closeMatch NANDO:1200948 Canavan disease semapv:MappingInversion +MONDO:0010079 Canavan disease skos:closeMatch NANDO:2200834 Canavan disease semapv:MappingInversion +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:1200083 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:1200624 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:2200566 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch NANDO:2200583 Sulfite oxidase deficiency semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NANDO:1200073 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NANDO:2201201 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:closeMatch NANDO:1200071 Tay-Sachs disease semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:closeMatch NANDO:2201199 Tay-Sachs disease semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:closeMatch NANDO:2200657 Thrombasthenia semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:closeMatch NANDO:2200664 ITGA2B/ITGB3 mutations semapv:MappingInversion +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch NANDO:2200661 Thrombocytopenia with absent radii semapv:MappingInversion +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200317 Congenital thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:1200623 Neutral lipid storage disease with ichthyosis semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:closeMatch NANDO:1200789 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:closeMatch NANDO:2200469 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:closeMatch NANDO:1200788 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:closeMatch NANDO:2200468 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:closeMatch NANDO:1200790 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:closeMatch NANDO:2200470 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0010168 Usher syndrome type 1 skos:closeMatch NANDO:1200942 Usher syndrome type I semapv:MappingInversion +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NANDO:1201040 Homocystinuria type 2 semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NANDO:1200797 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NANDO:2201108 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch NANDO:1200050 Ataxia with isolated vitamin E deficiency semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:closeMatch NANDO:1200659 Weaver syndrome semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:closeMatch NANDO:2200957 Weaver syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:closeMatch NANDO:1200676 Werner syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:closeMatch NANDO:2200831 Werner syndrome semapv:MappingInversion +MONDO:0010200 Wilson disease skos:closeMatch NANDO:1200655 Wilson disease semapv:MappingInversion +MONDO:0010200 Wilson disease skos:closeMatch NANDO:2200579 Wilson disease semapv:MappingInversion +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch NANDO:1200404 DAX1 abnormality semapv:MappingInversion +MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch NANDO:1200599 PCDH19-related syndrome semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NANDO:1200166 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NANDO:2201246 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0010281 Danon disease skos:closeMatch NANDO:1200145 Danon disease semapv:MappingInversion +MONDO:0010281 Danon disease skos:closeMatch NANDO:1200222 Danon disease semapv:MappingInversion +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch NANDO:2200984 MECP2 duplication syndrome semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch NANDO:2200753 X linked severe congenital neutropenia semapv:MappingInversion +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:closeMatch NANDO:1201035 Creatine transporter deficiency semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:closeMatch NANDO:2201301 SLC6A8 deficiency semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:closeMatch NANDO:1200489 Becker muscular dystrophy semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:closeMatch NANDO:2200865 Becker muscular dystrophy semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch NANDO:1200321 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch NANDO:2200694 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NANDO:1200580 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NANDO:2201292 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:closeMatch NANDO:1200830 Glycogen storage diseases type IXd semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:closeMatch NANDO:2201167 Glycogen storage disease type IXd semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NANDO:1200690 Fragile X syndrome related diseases semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NANDO:1200691 Fragile X tremor/ataxia syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:1200692 Fragile X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:2100224 Fragile X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:2200840 Fragile X syndrome semapv:MappingInversion +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch NANDO:2201279 gp91phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch NANDO:1200831 Phosphoglycerate kinase deficiency semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch NANDO:1200818 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch NANDO:2201269 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch NANDO:1200343 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch NANDO:2200716 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0010434 synovial sarcoma skos:closeMatch NANDO:2200061 Synovial sarcoma semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch NANDO:1200330 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch NANDO:2200704 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:1200665 ATR-X syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:2100223 ATR-X syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:2200839 ATR-X syndrome semapv:MappingInversion +MONDO:0010526 Fabry disease skos:closeMatch NANDO:1200157 Fabry disease semapv:MappingInversion +MONDO:0010526 Fabry disease skos:closeMatch NANDO:2200563 Fabry disease semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:closeMatch NANDO:1200991 3-methylglutaconicaciduria type II semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:closeMatch NANDO:2200751 Barth syndrome semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch NANDO:2201360 Brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NANDO:1200660 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NANDO:2200952 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0010568 Aicardi syndrome skos:closeMatch NANDO:1200562 Aicardi syndrome semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:closeMatch NANDO:1200654 Occipital horn syndrome semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:closeMatch NANDO:2200581 Occipital horn syndrome semapv:MappingInversion +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch NANDO:2200924 IPEX syndrome semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch NANDO:1200847 Hepatic glycogen storage disease type IXa semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch NANDO:2201164 Glycogen storage disease type IXa semapv:MappingInversion +MONDO:0010602 hemophilia A skos:closeMatch NANDO:2200676 Hemophilia A semapv:MappingInversion +MONDO:0010604 hemophilia B skos:closeMatch NANDO:2200677 Hemophilia B semapv:MappingInversion +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch NANDO:2200505 Glycerol kinase deficiency semapv:MappingInversion +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:1200629 CHILD syndrome semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:2200998 CHILD syndrome semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:2201358 CHILD syndrome semapv:MappingInversion +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch NANDO:1200625 Recessive X-linked ichtyosis semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NANDO:1200351 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NANDO:2200725 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0010631 incontinentia pigmenti skos:closeMatch NANDO:2200974 Incontinentia pigmenti semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch NANDO:2100028 Lowe syndrome semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch NANDO:2200188 Lowe syndrome semapv:MappingInversion +MONDO:0010651 Menkes disease skos:closeMatch NANDO:1200653 Menkes disease semapv:MappingInversion +MONDO:0010651 Menkes disease skos:closeMatch NANDO:2200580 Menkes disease semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch NANDO:1200097 Hunter syndrome semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch NANDO:2200548 Mucopolysaccharidosis type II semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch NANDO:1200488 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch NANDO:2200856 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch NANDO:1200223 X-linked Myopathy with excessive autophagy semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch NANDO:1200804 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch NANDO:2200479 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch NANDO:2200789 Properdin deficiency semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch NANDO:1200576 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch NANDO:2201288 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0010725 X-linked retinoschisis skos:closeMatch NANDO:1200938 X-linked juvenile retinoschisis semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:1200603 Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:1200604 Typical Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:2100219 Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:2200825 Rett syndrome semapv:MappingInversion +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch NANDO:2200978 Simpson-Golabi-Behmel syndrome semapv:MappingInversion +MONDO:0010735 Kennedy disease skos:closeMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch NANDO:1200514 Dystonia 3 semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch NANDO:2100258 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch NANDO:2200919 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch NANDO:1201064 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch NANDO:2200529 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch NANDO:1200178 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch NANDO:1200940 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:closeMatch NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:closeMatch NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:closeMatch NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:closeMatch NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0010808 fatal familial insomnia skos:closeMatch NANDO:1200191 Fatal familial insomnia semapv:MappingInversion +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 semapv:MappingInversion +MONDO:0010829 CARASIL syndrome skos:closeMatch NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy semapv:MappingInversion +MONDO:0010857 semantic dementia skos:closeMatch NANDO:1200550 Semantic dementia semapv:MappingInversion +MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch NANDO:2201071 Maturity-onset diabetes of the young type 3 semapv:MappingInversion +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome semapv:MappingInversion +MONDO:0010913 Caroli disease skos:closeMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch NANDO:2100031 Bronchial asthma semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch NANDO:2200197 Bronchial asthma semapv:MappingInversion +MONDO:0010947 Budd-Chiari syndrome skos:closeMatch NANDO:1200437 Budd-Chiari syndrome semapv:MappingInversion +MONDO:0010983 dystonia 9 skos:closeMatch NANDO:1200520 Dystonia 9 semapv:MappingInversion +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch NANDO:2200080 Pleuropulmonaryblastoma semapv:MappingInversion +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss semapv:MappingInversion +MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch NANDO:1200115 Hyaluronidase deficiency semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch NANDO:1200579 18q-syndrome semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch NANDO:2201291 18q-syndrome semapv:MappingInversion +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 semapv:MappingInversion +MONDO:0011200 torsion dystonia 7 skos:closeMatch NANDO:1200518 Dystonia 7 semapv:MappingInversion +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 semapv:MappingInversion +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch NANDO:1200371 Ossification of posterior longitudinal ligament semapv:MappingInversion +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch NANDO:2200823 Megalencephaly-capillary malformation syndrome semapv:MappingInversion +MONDO:0011264 torsion dystonia 6 skos:closeMatch NANDO:1200517 Dystonia 6 semapv:MappingInversion +MONDO:0011269 psoriasis 2 skos:closeMatch NANDO:2200443 CARD14 deficiency semapv:MappingInversion +MONDO:0011273 H syndrome skos:closeMatch NANDO:2200457 SLC29A3 deficiency semapv:MappingInversion +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch NANDO:1201056 End-plate acetylcholine esterase deficiency semapv:MappingInversion +MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch NANDO:1201076 Pseudohypoparathyroidism type 1B semapv:MappingInversion +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch NANDO:2200730 Syntaxin 11 deficiency semapv:MappingInversion +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch NANDO:2200728 Perforin deficiency semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:closeMatch NANDO:1200324 Omenn syndrome semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:closeMatch NANDO:2200697 Omenn syndrome semapv:MappingInversion +MONDO:0011340 congenital tracheal stenosis skos:closeMatch NANDO:1201003 Congenital tracheal stenosis semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch NANDO:1200681 Young-Simpson syndrome semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch NANDO:2200982 Young-Simpson syndrome semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:closeMatch NANDO:1200951 Vanishing white matter disease semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:closeMatch NANDO:2200838 Vanishing white matter disease semapv:MappingInversion +MONDO:0011382 sickle cell anemia skos:closeMatch NANDO:2200624 Sickle cell disease semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011399 alpha thalassemia skos:closeMatch NANDO:2201273 α-thalassemia semapv:MappingInversion +MONDO:0011405 poikiloderma with neutropenia skos:closeMatch NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:closeMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:closeMatch NANDO:2200582 Aceruloplasminemia semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NANDO:1200469 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NANDO:2200415 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:1200149 Salla disease semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:1200582 Salla disease semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:2201294 Salla disease semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch NANDO:2200651 Congenital amegakaryocytic thrombocytopenia semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:closeMatch NANDO:1200328 MHC class I deficiency semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:closeMatch NANDO:2200701 MHC class I deficiency semapv:MappingInversion +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:1200706 Tricuspid atresia semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:2100073 Tricuspid atresia semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:2200251 Tricuspid atresia semapv:MappingInversion +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis semapv:MappingInversion +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency semapv:MappingInversion +MONDO:0011603 GNE myopathy skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:closeMatch NANDO:1200984 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:closeMatch NANDO:2200476 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:closeMatch NANDO:1200792 Propionic acidemia semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:closeMatch NANDO:2200492 Propionic acidemia semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:closeMatch NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:closeMatch NANDO:1200542 Neuroferritinopathy semapv:MappingInversion +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NANDO:2200063 Alveolar soft part sarcoma semapv:MappingInversion +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:MappingInversion +MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch NANDO:2201072 Maturity-onset diabetes of the young type 4 semapv:MappingInversion +MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch NANDO:1200430 Lymphangioleiomyomatosis semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NANDO:2200545 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0011730 fumaric aciduria skos:closeMatch NANDO:2200520 Fumarase deficiency semapv:MappingInversion +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch NANDO:2200909 Glucose-galactose malabsorption semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:closeMatch NANDO:1200094 Hurler syndrome semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:closeMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch NANDO:1200096 Hurler-Scheie syndrome semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch NANDO:2201170 Hurler-Scheie disease semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:closeMatch NANDO:1200095 Scheie syndrome semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:closeMatch NANDO:2201169 Scheie disease semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:closeMatch NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:closeMatch NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch NANDO:2200740 Caspase-8 deficiency semapv:MappingInversion +MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch NANDO:1200409 MRAP deficiency semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:closeMatch NANDO:2100084 Patent ductus arteriosus semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:closeMatch NANDO:2200264 Patent ductus arteriosus semapv:MappingInversion +MONDO:0011844 myoclonic dystonia 15 skos:closeMatch NANDO:1200528 Dystonia 15 semapv:MappingInversion +MONDO:0011849 psoriatic arthritis skos:closeMatch NANDO:2201059 Psoriatic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NANDO:1200062 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NANDO:2201207 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch NANDO:2200732 Griscelli syndrome type 2 semapv:MappingInversion +MONDO:0011886 torsion dystonia 13 skos:closeMatch NANDO:1200527 Dystonia 13 semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:closeMatch NANDO:1200361 IRAK4 deficiency semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:closeMatch NANDO:2200762 IRAK4 deficiency semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch NANDO:2200015 Juvenile myelomonocytic leukemia semapv:MappingInversion +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch NANDO:2200861 Merosin-deficient congenital muscular dystrophy semapv:MappingInversion +MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch NANDO:1200682 1p36 deletion syndrome semapv:MappingInversion +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation semapv:MappingInversion +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch NANDO:1200685 Paternal uniparental disomy of chromosome 14 semapv:MappingInversion +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch NANDO:2200013 Chronic myeloid leukemia semapv:MappingInversion +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch NANDO:2200733 Hermansky-Pudlak syndrome type 2 semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch NANDO:1200862 Acquired partial lipodystrophy semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:1200263 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:1201009 Systemic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:2200424 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch NANDO:1200373 Idiopathic osteonecrosis of femoral head semapv:MappingInversion +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch NANDO:2200729 UNC13D/Munc13-4 deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch NANDO:1200326 CD8 deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch NANDO:2200699 CD8 deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:1200974 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:2200515 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:2201147 Presymptomatic trifunctional protein deficiency semapv:MappingInversion +MONDO:0012176 Emanuel syndrome skos:closeMatch NANDO:1200689 Emanuel syndrome semapv:MappingInversion +MONDO:0012184 Pierson syndrome skos:closeMatch NANDO:2200117 Pierson syndrome semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NANDO:1200296 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NANDO:2201276 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:closeMatch NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:closeMatch NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:MappingInversion +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch NANDO:1200135 Schindler disease type I semapv:MappingInversion +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch NANDO:1200136 Schindler disease type 2 semapv:MappingInversion +MONDO:0012268 AIDS skos:closeMatch NANDO:2100212 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0012268 AIDS skos:closeMatch NANDO:2200809 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0012295 complement component 5 deficiency skos:closeMatch NANDO:2200783 C5 deficiency semapv:MappingInversion +MONDO:0012316 Majeed syndrome skos:closeMatch NANDO:2200453 Majeed syndrome semapv:MappingInversion +MONDO:0012350 complement factor H deficiency skos:closeMatch NANDO:2200791 Factor H deficiency semapv:MappingInversion +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch NANDO:2200669 ADP receptor deficiencies semapv:MappingInversion +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch NANDO:2200771 MCM4 mutation semapv:MappingInversion +MONDO:0012412 complement component 7 deficiency skos:closeMatch NANDO:2200785 C7 deficiency semapv:MappingInversion +MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch NANDO:2200894 Aicardi-Goutieres syndrome 2 semapv:MappingInversion +MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B semapv:MappingInversion +MONDO:0012455 Kleefstra syndrome skos:closeMatch NANDO:1200959 9q34 deletion syndrome semapv:MappingInversion +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency semapv:MappingInversion +MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch NANDO:2200895 Aicardi-Goutieres syndrome 3 semapv:MappingInversion +MONDO:0012481 mevalonic aciduria skos:closeMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch NANDO:1200584 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch NANDO:2201296 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0012521 herpes simplex encephalitis skos:closeMatch NANDO:2200772 Herpes simplex encephalitis semapv:MappingInversion +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch NANDO:2200752 P14 deficiency semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch NANDO:1200747 Autoimmune pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch NANDO:1200748 Idiopathic pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200750 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:2200200 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:closeMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:closeMatch NANDO:2200790 Factor I deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:closeMatch NANDO:2200798 Factor I deficiency semapv:MappingInversion +MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch NANDO:1200532 Dystonia 19 semapv:MappingInversion +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch NANDO:1200533 Dystonia 20 semapv:MappingInversion +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch NANDO:2201152 Glycogen storage disease type 0b semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch NANDO:2200134 Lipoprotein glomerulopathy semapv:MappingInversion +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch NANDO:1200834 Glycogen storage diseases type XII semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:closeMatch NANDO:1200336 RIDDLE syndrome semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:closeMatch NANDO:2200710 RIDDLE syndrome semapv:MappingInversion +MONDO:0012789 dystonia 16 skos:closeMatch NANDO:1200529 Dystonia 16 semapv:MappingInversion +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch NANDO:1200531 Dystonia 18 semapv:MappingInversion +MONDO:0012817 Ewing sarcoma skos:closeMatch NANDO:2200053 Ewing's sarcoma semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch NANDO:1200581 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch NANDO:2201293 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch NANDO:1200362 MyD88 deficiency semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch NANDO:2200763 MyD88 deficiency semapv:MappingInversion +MONDO:0012858 primary CD59 deficiency skos:closeMatch NANDO:2200804 Primary CD59 deficiency semapv:MappingInversion +MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch NANDO:2200007 Acute promyelocytic leukemia semapv:MappingInversion +MONDO:0012895 torsion dystonia 17 skos:closeMatch NANDO:1200530 Dystonia 17 semapv:MappingInversion +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0012908 complement component 6 deficiency skos:closeMatch NANDO:2200784 C6 deficiency semapv:MappingInversion +MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch NANDO:1201077 Pseudohypoparathyroidism type 1C semapv:MappingInversion +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch NANDO:2200348 Pseudopseudohypoparathyroidism semapv:MappingInversion +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch NANDO:2200448 IL-10RB deficiency semapv:MappingInversion +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch NANDO:1200982 Sepiapterin reductase deficiency semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:closeMatch NANDO:1201033 Arginine:glycine amidinotransferase deficiency semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:closeMatch NANDO:2201299 AGAT deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch NANDO:1201034 Guanidinoacetate methyltransferase deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch NANDO:2201300 GAMT deficiency semapv:MappingInversion +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist semapv:MappingInversion +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch NANDO:1200429 Chronic thromboembolic pulmonary hypertension semapv:MappingInversion +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch NANDO:2200803 CD46 deficiency semapv:MappingInversion +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch NANDO:1200835 Glycogen storage diseases type XIII semapv:MappingInversion +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch NANDO:1200833 Glycogen storage diseases type XI semapv:MappingInversion +MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch NANDO:2200897 Aicardi-Goutieres syndrome 5 semapv:MappingInversion +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch NANDO:1200405 SF-1 abnormality semapv:MappingInversion +MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch NANDO:2200734 IL-2-inducible T-cell kinase deficiency semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:closeMatch NANDO:1200849 Hepatic glycogen storage disease type IXc semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:closeMatch NANDO:2201166 Glycogen storage disease type IXc semapv:MappingInversion +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch NANDO:2200731 STXBP2/Munc18-2 deficiency semapv:MappingInversion +MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related skos:closeMatch NANDO:2200667 β-1 tubulin disorders semapv:MappingInversion +MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch NANDO:2200447 IL-10RA deficiency semapv:MappingInversion +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch NANDO:1200325 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch NANDO:2200698 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch NANDO:2200866 LMNA-related congenital muscular dystrophy semapv:MappingInversion +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency semapv:MappingInversion +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:1200755 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:2100174 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:2200611 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013291 glycogen storage disease XV skos:closeMatch NANDO:1200837 Glycogen storage diseases type XV semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch NANDO:1200402 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch NANDO:2200375 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0013316 occult macular dystrophy skos:closeMatch NANDO:1200934 Occult macular dystrophy semapv:MappingInversion +MONDO:0013343 C1Q deficiency skos:closeMatch NANDO:2200777 C1q deficiency semapv:MappingInversion +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch NANDO:2200673 Hypoprothrombinemia semapv:MappingInversion +MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch NANDO:1200767 Sterol carrier protein 2 deficiency semapv:MappingInversion +MONDO:0013408 FADD-related immunodeficiency skos:closeMatch NANDO:2200741 Fas-associated death domain protein deficiency semapv:MappingInversion +MONDO:0013417 complement component 3 deficiency skos:closeMatch NANDO:2200782 C3 deficiency semapv:MappingInversion +MONDO:0013419 complement component C1s deficiency skos:closeMatch NANDO:2200779 C1s deficiency semapv:MappingInversion +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch NANDO:2200793 MASP2 deficiency semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0013445 complement component 9 deficiency skos:closeMatch NANDO:2200787 C9 deficiency semapv:MappingInversion +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch NANDO:2200794 Ficolin 3 Deficiency semapv:MappingInversion +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch NANDO:2200788 Factor D deficiency semapv:MappingInversion +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch NANDO:2201283 p40phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0013571 acatalasia skos:closeMatch NANDO:1200774 Acatalasemia semapv:MappingInversion +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch NANDO:2200719 Isolated IgG subclass deficiency semapv:MappingInversion +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch NANDO:1200048 Spinocerebellar ataxia type 36 semapv:MappingInversion +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch NANDO:2200670 Abnormalities in platelet collagen receptors semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:closeMatch NANDO:1200244 Acrodermatitis continua of Hallopeau semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:closeMatch NANDO:2200452 IL36RN deficiency semapv:MappingInversion +MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency semapv:MappingInversion +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch NANDO:2200912 Lipase deficiency semapv:MappingInversion +MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch NANDO:2200587 Adenine phosphoribosyltransferase deficiency semapv:MappingInversion +MONDO:0013873 IMAGe syndrome skos:closeMatch NANDO:1200406 IMAge syndrome semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch NANDO:2200451 PLCg2 deficiency semapv:MappingInversion +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch NANDO:1200836 Glycogen storage diseases type XIV semapv:MappingInversion +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200726 Primary membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch NANDO:2200898 Aicardi-Goutieres syndrome 6 semapv:MappingInversion +MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch NANDO:2200665 ACTN1 mutations semapv:MappingInversion +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 semapv:MappingInversion +MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 skos:closeMatch NANDO:2200743 PKC-δ deficiency semapv:MappingInversion +MONDO:0014255 complement factor b deficiency skos:closeMatch NANDO:2200797 Factor B deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:1200995 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:2200441 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:2200450 Deficiency of the enzyme ADA2 semapv:MappingInversion +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 semapv:MappingInversion +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure semapv:MappingInversion +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch NANDO:2200766 HOIL-1 deficiency semapv:MappingInversion +MONDO:0014421 glucocorticoid resistance skos:closeMatch NANDO:2200358 Glucocorticoid resistance semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch NANDO:1200994 NLRC4 mutation semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch NANDO:2200459 NLRC4 mutation semapv:MappingInversion +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch NANDO:2200770 STAT2 deficiency semapv:MappingInversion +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch NANDO:2200985 Takenouchi-Kosaki syndrome semapv:MappingInversion +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 semapv:MappingInversion +MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0015075 thyroid gland carcinoma skos:closeMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:closeMatch NANDO:1200816 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:closeMatch NANDO:2201267 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0015131 combined immunodeficiency skos:closeMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:closeMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:closeMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch NANDO:1200053 Pure hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015150 complex hereditary spastic paraplegia skos:closeMatch NANDO:1200054 Complex hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:closeMatch NANDO:2200911 Amylase deficiency semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:closeMatch NANDO:1200925 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:closeMatch NANDO:2200943 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:closeMatch NANDO:2100274 Short bowel syndrome semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:closeMatch NANDO:2200944 Short bowel syndrome semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:closeMatch NANDO:2100179 Sideroblastic anemia semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:closeMatch NANDO:2200616 Sideroblastic anemia semapv:MappingInversion +MONDO:0015197 aneurysm of sinus of Valsalva skos:closeMatch NANDO:2200293 Aneurysm of sinus valsalva semapv:MappingInversion +MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch NANDO:2200414 Bardet-Biedl syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:closeMatch NANDO:2100021 Bartter syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:closeMatch NANDO:2200146 Bartter syndrome semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch NANDO:1200890 Diamond-Blackfan anemia semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch NANDO:2200614 Congenital red cell aplasia semapv:MappingInversion +MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch NANDO:1200421 Cryptogenic organizing pneumonia semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:1200745 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:2100039 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:2200209 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015268 medullary sponge kidney skos:closeMatch NANDO:2200173 Medullary sponge kidney semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:closeMatch NANDO:2100086 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:closeMatch NANDO:2200269 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0015275 partial atrioventricular canal skos:closeMatch NANDO:2200268 Incomplete atrioventricular septal defect semapv:MappingInversion +MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch NANDO:2201054 Medullary thyroid carcinoma semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch NANDO:1200363 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch NANDO:2200764 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch NANDO:1200462 CFC Syndrome semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch NANDO:2200967 CFC Syndrome semapv:MappingInversion +MONDO:0015285 Carney complex skos:closeMatch NANDO:1200756 Carney complex semapv:MappingInversion +MONDO:0015333 progeroid syndrome skos:closeMatch NANDO:2100221 Progeroid syndromes semapv:MappingInversion +MONDO:0015337 isolated craniosynostosis skos:closeMatch NANDO:2200843 Non-syndromic craniosynostosis semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch NANDO:1200168 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch NANDO:2201248 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0015358 hereditary motor and sensory neuropathy skos:closeMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:1200661 Joubert syndrome and related disorders semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:2100218 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:2200824 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0015375 orofaciodigital syndrome skos:closeMatch NANDO:1201051 Oral-facial-digital syndrome semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:closeMatch NANDO:1201004 Congenital subglottic stenosis semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:closeMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:closeMatch NANDO:1200879 obsolete Lymphangiomatosis semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:closeMatch NANDO:2201033 Lymphangiomatosis semapv:MappingInversion +MONDO:0015436 ring chromosome 20 skos:closeMatch NANDO:1200597 Ring chromosome 20 syndrome semapv:MappingInversion +MONDO:0015446 atypical coarctation of aorta skos:closeMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0015450 triatrial heart skos:closeMatch NANDO:2100083 Cor triatriatum semapv:MappingInversion +MONDO:0015450 triatrial heart skos:closeMatch NANDO:2200263 Cor triatriatum semapv:MappingInversion +MONDO:0015451 univentricular heart skos:closeMatch NANDO:1200704 Single ventricle semapv:MappingInversion +MONDO:0015451 univentricular heart skos:closeMatch NANDO:2200250 Single ventricle semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch NANDO:1200670 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch NANDO:2200977 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch NANDO:1200820 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch NANDO:2200500 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0015465 craniometaphyseal dysplasia skos:closeMatch NANDO:2201366 Craniometaphyseal dysplasia semapv:MappingInversion +MONDO:0015469 craniosynostosis skos:closeMatch NANDO:2100227 Craniosynostosis semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:1200971 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2200510 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:closeMatch NANDO:1200344 Common variable immunodeficiency semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:closeMatch NANDO:2200717 Common variable immunodeficiency semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch NANDO:2100242 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch NANDO:2200888 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0015534 juvenile xanthogranuloma skos:closeMatch NANDO:2200037 Juvenile xanthogranuloma semapv:MappingInversion +MONDO:0015540 hemophagocytic syndrome skos:closeMatch NANDO:2200032 Hemophagocytic lymphohistiocytosis semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015610 acquired aplastic anemia skos:closeMatch NANDO:2201277 Secondary aplastic anemia semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:closeMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:closeMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch NANDO:1200016 Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015677 cardiac diverticulum skos:closeMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NANDO:2200805 Hyper eosinophilic syndrome semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NANDO:2200806 Hypereosinophilic syndrome semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:closeMatch NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:closeMatch NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015759 B-cell non-Hodgkin lymphoma skos:closeMatch NANDO:2200020 Mature B-cell lymphoma semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch NANDO:1201042 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch NANDO:2200933 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0015770 congenital hypogonadotropic hypogonadism skos:closeMatch NANDO:1200383 Congenital hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:closeMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:1200304 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:1200342 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:2200715 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:closeMatch NANDO:1200375 Central diabetes insipidus semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:closeMatch NANDO:2200324 Central diabetes insipidus semapv:MappingInversion +MONDO:0015791 peripheral precocious puberty skos:closeMatch NANDO:2200378 Non-gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0015863 polyembryoma skos:closeMatch NANDO:2200068 Polyembryoma semapv:MappingInversion +MONDO:0015864 mixed germ cell tumor skos:closeMatch NANDO:2200071 Mixed germ cell tumour semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch NANDO:2100114 Growth hormone insensitivity semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch NANDO:2200321 Growth hormone insensitivity semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0015900 hypoaldosteronism disease skos:closeMatch NANDO:2100132 Hypoaldosteronism semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:1200295 Aplastic anemia semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:2100201 Aplastic anemia semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:2200693 Aplastic anemia semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:1200425 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:2100103 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:2200298 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015929 thoracic malformation skos:closeMatch NANDO:2201008 Thoracic insufficiency syndrome semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch NANDO:1200264 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch NANDO:2200427 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:closeMatch NANDO:1200609 Congenital ichthyosis semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:closeMatch NANDO:2100283 Congenital ichthyosis semapv:MappingInversion +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch NANDO:2200158 Multicystic dysplastic kidney semapv:MappingInversion +MONDO:0015993 cone-rod dystrophy skos:closeMatch NANDO:1200937 Cone-rod dystrophy semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:closeMatch NANDO:1200677 Cockayne syndrome semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:closeMatch NANDO:2200832 Cockayne syndrome semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:1200598 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:2100246 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:2200900 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016022 early myoclonic encephalopathy skos:closeMatch NANDO:1200594 Early myoclonic encephalopathy semapv:MappingInversion +MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch NANDO:1200590 Epilepsy with myoclonic atonic seizures semapv:MappingInversion +MONDO:0016030 Evans syndrome skos:closeMatch NANDO:1200310 Evans syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch NANDO:1200960 Cornelia de lange syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch NANDO:2200958 Cornelia de Lange syndrome semapv:MappingInversion +MONDO:0016054 cerebral malformation skos:closeMatch NANDO:2100217 Brain malformation semapv:MappingInversion +MONDO:0016063 Cowden disease skos:closeMatch NANDO:2200918 Cowden syndrome semapv:MappingInversion +MONDO:0016068 fibrochondrogenesis skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200187 Sporadic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0016081 coronary arterial fistulas skos:closeMatch NANDO:2200296 Coronary artery fistula semapv:MappingInversion +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:closeMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:closeMatch NANDO:1200075 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:closeMatch NANDO:2201216 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:closeMatch NANDO:1200077 Adult Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:closeMatch NANDO:2201219 Adult Krabbe disease semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:closeMatch NANDO:1200495 Myotonic dystrophy semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:closeMatch NANDO:2200864 Myotonic dystrophy semapv:MappingInversion +MONDO:0016110 obsolete non-dystrophic myopathy skos:closeMatch NANDO:1200496 Non-dystrophic myotonia semapv:MappingInversion +MONDO:0016113 bulbospinal muscular atrophy skos:closeMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0016118 obsolete muscular glycogenosis skos:closeMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch NANDO:1200457 Eosinophilic gastroenteritis semapv:MappingInversion +MONDO:0016147 qualitative or quantitative defects of dystrophin skos:closeMatch NANDO:1200487 Dystrophinopathies semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch NANDO:1200465 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch NANDO:2200432 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0016233 obsolete rare lymphatic system malformation skos:closeMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0016239 cystinosis skos:closeMatch NANDO:1200161 Cystinosis semapv:MappingInversion +MONDO:0016239 cystinosis skos:closeMatch NANDO:2200571 Cystinosis semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:1200525 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2100239 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2200883 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016242 hemoglobin C disease skos:closeMatch NANDO:2200635 Hemoglobin C disease semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:1200473 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:1200474 Congenital atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:2200131 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:2200641 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:1200441 Autoimmune hepatitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:1200442 Typical autoimmune hepatitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:2100264 Autoimmune hepatitis semapv:MappingInversion +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NANDO:2200387 Ovotesticular dsd semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200150 Neuronal ceroid-lipofuscinosis semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2200573 Neuronal ceroid lipofuscinoses semapv:MappingInversion +MONDO:0016296 holoprosencephaly skos:closeMatch NANDO:2200819 Holoprosencephaly semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200699 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:2100079 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:2200259 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:closeMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch NANDO:1200065 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch NANDO:2201209 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch NANDO:1200098 Hunter syndrome type A semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch NANDO:2201173 Mucopolysaccharidosis type II, severe form semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:1200099 Hunter syndrome type B semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:2201171 Mucopolysaccharidosis type II, attenuated form semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:2201172 Mucopolysaccharidosis type II, intermediate form semapv:MappingInversion +MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch NANDO:1200205 Progressive multifocal leukoencephalopathy semapv:MappingInversion +MONDO:0016345 non-familial restrictive cardiomyopathy skos:closeMatch NANDO:1200294 Secondary restrictive cardiomyopathy semapv:MappingInversion +MONDO:0016349 congenital hydrocephalus skos:closeMatch NANDO:2200822 Congenital hydrocephalus semapv:MappingInversion +MONDO:0016356 diffuse cutaneous systemic sclerosis skos:closeMatch NANDO:1201010 Diffuse cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0016367 dermatomyositis skos:closeMatch NANDO:1200274 Dermatomyositis semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch NANDO:1200742 Congenital nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch NANDO:2200326 Nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0016391 neonatal diabetes mellitus skos:closeMatch NANDO:2200463 Neonatal diabetes mellitus semapv:MappingInversion +MONDO:0016407 oligomeganephronia skos:closeMatch NANDO:2200159 Oligomeganephronia semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:1200390 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:2200332 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:2200340 Central hypothyroidism semapv:MappingInversion +MONDO:0016418 multiple system atrophy, cerebellar type skos:closeMatch NANDO:1200035 Multiple system atrophy, cerebellar type semapv:MappingInversion +MONDO:0016430 Balo concentric sclerosis skos:closeMatch NANDO:1200028 Baló concentric sclerosis semapv:MappingInversion +MONDO:0016484 Usher syndrome type 2 skos:closeMatch NANDO:1200943 Usher syndrome Type II semapv:MappingInversion +MONDO:0016485 Usher syndrome type 3 skos:closeMatch NANDO:1200944 Usher syndrome Type III semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:closeMatch NANDO:1200672 Kabuki syndrome semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:closeMatch NANDO:2200956 Kabuki syndrome semapv:MappingInversion +MONDO:0016525 familial hyperaldosteronism skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch NANDO:1200591 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch NANDO:2200879 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch NANDO:2201005 Anhidrotic ectodermal dysplasia semapv:MappingInversion +MONDO:0016536 autosomal recessive lymphoproliferative disease skos:closeMatch NANDO:2200735 CD27 deficiency semapv:MappingInversion +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:closeMatch NANDO:2200446 IL10 deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:1200786 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:2200594 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:2201076 BH4 deficiency semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2100034 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2200203 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2200204 Kartagener syndrome semapv:MappingInversion +MONDO:0016581 conotruncal heart malformations skos:closeMatch NANDO:2200275 Double-chambered right ventricle semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0016594 superficial siderosis skos:closeMatch NANDO:1200543 Superficial siderosis semapv:MappingInversion +MONDO:0016597 obsolete generalized pustular psoriasis skos:closeMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0016600 acute neonatal citrullinemia type I skos:closeMatch NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0016601 adult-onset citrullinemia type I skos:closeMatch NANDO:2201095 Late-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:closeMatch NANDO:1200978 Citrin deficiency semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:closeMatch NANDO:2200483 Citrin deficiency semapv:MappingInversion +MONDO:0016603 citrullinemia type II skos:closeMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016642 meningioma skos:closeMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0016684 anaplastic astrocytoma skos:closeMatch NANDO:2200086 Anaplastic astrocytoma semapv:MappingInversion +MONDO:0016686 diffuse astrocytoma skos:closeMatch NANDO:2200085 Diffuse astrocytoma semapv:MappingInversion +MONDO:0016691 pilocytic astrocytoma skos:closeMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0016695 oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0016698 ependymoma skos:closeMatch NANDO:2200088 Ependymoma semapv:MappingInversion +MONDO:0016723 pineocytoma skos:closeMatch NANDO:2200092 Pineocytoma semapv:MappingInversion +MONDO:0016730 gangliocytoma skos:closeMatch NANDO:2200097 Gangliocytoma semapv:MappingInversion +MONDO:0016733 ganglioglioma skos:closeMatch NANDO:2200096 Ganglioglioma semapv:MappingInversion +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:closeMatch NANDO:2200524 Diseases due to mitochondrial DNA mutation semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:closeMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:closeMatch NANDO:2200885 Segawa syndrome semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:1200183 Moyamoya disease semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:2100228 Moyamoya disease semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:2200850 Moyamoya disease semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch NANDO:1200492 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch NANDO:2200857 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch NANDO:1200958 Partial trisomy 1q semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch NANDO:1200490 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch NANDO:2200858 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0016987 neuroacanthocytosis skos:closeMatch NANDO:1200013 Neuroacanthocytosis semapv:MappingInversion +MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0017042 thanatophoric dysplasia skos:closeMatch NANDO:1200874 Thanatophoric dysplasia semapv:MappingInversion +MONDO:0017051 classic maple syrup urine disease skos:closeMatch NANDO:2201078 Classic form maple syrup urine disease semapv:MappingInversion +MONDO:0017052 intermediate maple syrup urine disease skos:closeMatch NANDO:2201079 Intermediate maple syrup urine disease semapv:MappingInversion +MONDO:0017053 intermittent maple syrup urine disease skos:closeMatch NANDO:2201080 Intermittent maple syrup urine disease semapv:MappingInversion +MONDO:0017054 thiamine-responsive maple syrup urine disease skos:closeMatch NANDO:2201081 Thiamine-responsive maple syrup urine disease semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0017079 meningoencephalocele skos:closeMatch NANDO:2200813 Meningoencephalocele semapv:MappingInversion +MONDO:0017096 isolated focal cortical dysplasia type Ia skos:closeMatch NANDO:1200565 Focal cortical dysplasia type 1a semapv:MappingInversion +MONDO:0017097 isolated focal cortical dysplasia type Ib skos:closeMatch NANDO:1200566 Focal cortical dysplasia type 1b semapv:MappingInversion +MONDO:0017098 isolated focal cortical dysplasia type Ic skos:closeMatch NANDO:1200567 Focal cortical dysplasia type 1c semapv:MappingInversion +MONDO:0017101 isolated focal cortical dysplasia type IIa skos:closeMatch NANDO:1200568 Focal cortical dysplasia type 2a semapv:MappingInversion +MONDO:0017102 isolated focal cortical dysplasia type IIb skos:closeMatch NANDO:1200569 Focal cortical dysplasia type 2b semapv:MappingInversion +MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch NANDO:2201046 Idiopathic pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017148 heritable pulmonary arterial hypertension skos:closeMatch NANDO:2201047 Familial pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease skos:closeMatch NANDO:2201048 Secondary pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017160 behavioral variant of frontotemporal dementia skos:closeMatch NANDO:1200549 Behavioral variant frontotemporal dementia semapv:MappingInversion +MONDO:0017169 multiple endocrine neoplasia skos:closeMatch NANDO:2100148 Multiple endocrine neoplasia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:closeMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:closeMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:closeMatch NANDO:1200998 Osteopetrosis semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:closeMatch NANDO:2201013 Osteopetrosis semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch NANDO:1200577 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch NANDO:2201289 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0017234 inherited prion disease skos:closeMatch NANDO:1200188 Genetic prion diseases semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch NANDO:2200991 Autosomal recessive congenital ichthyosis semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:closeMatch NANDO:1200610 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:closeMatch NANDO:2200987 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0017276 frontotemporal dementia skos:closeMatch NANDO:1200548 Frontotemporal lobar degeneration semapv:MappingInversion +MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch NANDO:2100125 Autoimmune polyendocrinopathy semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:closeMatch NANDO:1200923 IgG4-related disease semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:closeMatch NANDO:1200924 IgG4-related disease semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch NANDO:1200648 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch NANDO:2201258 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0017319 hereditary elliptocytosis skos:closeMatch NANDO:2200630 Hereditary elliptocytosis semapv:MappingInversion +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency semapv:MappingInversion +MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch NANDO:1200985 Neonatal nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017354 infantile glycine encephalopathy skos:closeMatch NANDO:1200986 Infantile nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch NANDO:1200989 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch NANDO:2200496 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0017361 congenital rubella syndrome skos:closeMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0017364 POEMS syndrome skos:closeMatch NANDO:1200033 Crow-Fukase syndrome semapv:MappingInversion +MONDO:0017380 juvenile polyposis syndrome skos:closeMatch NANDO:2200916 Juvenile polyposis semapv:MappingInversion +MONDO:0017381 congenital herpes simplex virus infection skos:closeMatch NANDO:2200889 Congenital herpes simplex virus infection semapv:MappingInversion +MONDO:0017385 malignant migrating partial seizures of infancy skos:closeMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch NANDO:2201077 BH4-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0017398 3MC syndrome skos:closeMatch NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome semapv:MappingInversion +MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch NANDO:2200891 Congenital cytomegalovirus infection semapv:MappingInversion +MONDO:0017410 porencephaly skos:closeMatch NANDO:1201074 Porencephaly semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch NANDO:1200355 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch NANDO:2200755 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0017608 obsolete dystrophic epidermolysis bullosa skos:closeMatch NANDO:2201343 Dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:1200235 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:2201341 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch NANDO:1200236 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch NANDO:2201342 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency skos:closeMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch NANDO:1200139 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch NANDO:2201229 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:closeMatch NANDO:2201159 Glycogen storage disease type IV, hepatic form semapv:MappingInversion +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:closeMatch NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form semapv:MappingInversion +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form semapv:MappingInversion +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form semapv:MappingInversion +MONDO:0017708 mevalonate kinase deficiency skos:closeMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:closeMatch NANDO:1200969 Carnitine cycle disorders semapv:MappingInversion +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:closeMatch NANDO:2200522 Mitochondrial respiratory chain disorders semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:closeMatch NANDO:1200070 GM2 gangliosidosis semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:closeMatch NANDO:2200559 GM2 gangliosidosis semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch NANDO:1200079 Late infantile metachromatic leukodystrophy semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch NANDO:2201202 Metachromatic leukodystrophy, late infantile form semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch NANDO:1200081 Adult metachromatic leukodystrophy semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch NANDO:2201204 Metachromatic leukodystrophy, adult form semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch NANDO:1200128 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch NANDO:2201189 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0017734 sialidosis skos:closeMatch NANDO:1200116 Sialidosis semapv:MappingInversion +MONDO:0017734 sialidosis skos:closeMatch NANDO:2200556 Sialidosis semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:closeMatch NANDO:1200148 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:closeMatch NANDO:2201238 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0017746 atypical Rett syndrome skos:closeMatch NANDO:1200605 Atypical Rett syndrome semapv:MappingInversion +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0017778 lamellar ichthyosis skos:closeMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:closeMatch NANDO:1200134 Schindler disease semapv:MappingInversion +MONDO:0017816 primary systemic amyloidosis skos:closeMatch NANDO:1200209 Systemic amyloidosis semapv:MappingInversion +MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch NANDO:2200102 Malignant neurinoma semapv:MappingInversion +MONDO:0017838 sclerosteosis skos:closeMatch NANDO:2201369 Sclerosteosis semapv:MappingInversion +MONDO:0017842 Senior-Loken syndrome skos:closeMatch NANDO:1201049 Senior-Loken syndrome semapv:MappingInversion +MONDO:0017858 acute erythroid leukemia skos:closeMatch NANDO:2200010 Acute erythremia semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NANDO:1200964 Congenital pulmonary vein stenosis semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NANDO:2200273 Pulmonary venous obstruction semapv:MappingInversion +MONDO:0017870 supravalvular pulmonary stenosis skos:closeMatch NANDO:2200278 Supravalvular pulmonary stenosis semapv:MappingInversion +MONDO:0017910 dehydrated hereditary stomatocytosis skos:closeMatch NANDO:2200633 Stomatocytic xerocytosis semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch NANDO:1200352 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch NANDO:2200726 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017986 disorder of plasmalogens biosynthesis skos:closeMatch NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency semapv:MappingInversion +MONDO:0017987 syringomyelia skos:closeMatch NANDO:1200506 Syringomyelia semapv:MappingInversion +MONDO:0017987 syringomyelia skos:closeMatch NANDO:1200507 Symptomatic syringomyelia semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch NANDO:2200216 Polymorphic ventricular premature beat semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:closeMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:closeMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:closeMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0018018 wild type ATTR amyloidosis skos:closeMatch NANDO:1200212 Transthyretin-related senile systemic amyloidosis semapv:MappingInversion +MONDO:0018029 congenital factor XIII deficiency skos:closeMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:closeMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:closeMatch NANDO:1200340 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:closeMatch NANDO:2200713 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch NANDO:2200648 Heparin-induced thrombocytopenia semapv:MappingInversion +MONDO:0018053 trichothiodystrophy skos:closeMatch NANDO:1200627 Trichothiodystrophy semapv:MappingInversion +MONDO:0018065 isolated trigonocephaly skos:closeMatch NANDO:2201305 Non-syndromic metopic craniosynostosis semapv:MappingInversion +MONDO:0018068 trisomy 13 skos:closeMatch NANDO:2200964 Trisomy 13 semapv:MappingInversion +MONDO:0018071 trisomy 18 skos:closeMatch NANDO:2200963 Trisomy 18 semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:closeMatch NANDO:1200693 Truncus arteriosus communis semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:closeMatch NANDO:2200261 Truncus arteriosus communis semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:closeMatch NANDO:1200863 Familial Mediterranean fever semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:closeMatch NANDO:2200431 Familial Mediterranean fever semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:1200710 Double outlet right ventricle semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:2100076 Double outlet right ventricle semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:2200256 Double outlet right ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:closeMatch NANDO:2100077 Double-outlet left ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:closeMatch NANDO:2200257 Double-outlet left ventricle semapv:MappingInversion +MONDO:0018097 West syndrome skos:closeMatch NANDO:1200592 West syndrome semapv:MappingInversion +MONDO:0018097 West syndrome skos:closeMatch NANDO:2200878 West syndrome semapv:MappingInversion +MONDO:0018105 Wolfram syndrome skos:closeMatch NANDO:1200757 Wolfram syndrome semapv:MappingInversion +MONDO:0018112 isolated scaphocephaly skos:closeMatch NANDO:2201302 Non-syndromic sagittal craniosynostosis semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:closeMatch NANDO:1200066 GM1 gangliosidosis semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:closeMatch NANDO:2200558 GM1 Gangliosidosis semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:closeMatch NANDO:1200056 Gaucher disease semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:closeMatch NANDO:2200562 Gaucher disease semapv:MappingInversion +MONDO:0018153 Erdheim-Chester disease skos:closeMatch NANDO:2200038 Erdheim-Chester disease semapv:MappingInversion +MONDO:0018155 lateral sclerosis skos:closeMatch NANDO:1200008 Primary lateral sclerosis semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch NANDO:2200523 Mitochondrial DNA depletion syndrome semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch NANDO:2200528 Diseases due to mitochondrial DNA deletion semapv:MappingInversion +MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch NANDO:1200719 Primary nephrotic syndrome semapv:MappingInversion +MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch NANDO:2200686 Combined deficiency of coagulation factors V and VIII semapv:MappingInversion +MONDO:0018177 glioblastoma skos:closeMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:closeMatch NANDO:2100256 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:closeMatch NANDO:2200914 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018209 Alexander disease type I skos:closeMatch NANDO:1200555 Alexander disease type I semapv:MappingInversion +MONDO:0018210 Alexander disease type II skos:closeMatch NANDO:1200556 Alexander disease type II semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:1200245 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:2100290 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:2201006 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018240 TRPV4-related bone disorder skos:closeMatch NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:closeMatch NANDO:1201020 Hepatic glycogen storage disease type IX semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:closeMatch NANDO:2200544 Glycogen storage disease type IX semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch NANDO:2200054 Primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch NANDO:2200055 Peripheral primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0018301 interstitial cystitis skos:closeMatch NANDO:1200743 Interstitial cystitis (Hunner type) semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:closeMatch NANDO:1200357 Chronic granulomatous disease semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:closeMatch NANDO:2200757 Chronic granulomatous disease semapv:MappingInversion +MONDO:0018306 Griscelli syndrome skos:closeMatch NANDO:1200640 Griscelli syndrome semapv:MappingInversion +MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch NANDO:2100241 Neurodegeneration with brain iron accumulation semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:1200903 Hirschsprung disease semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:2200945 Hirschsprung disease semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch NANDO:1200394 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch NANDO:2201255 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0018348 obsolete polyglucosan body myopathy type 1 skos:closeMatch NANDO:2200456 RBCK1 deficiency semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch NANDO:1200454 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch NANDO:2200807 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0018470 renal agenesis skos:closeMatch NANDO:2200156 Renal aplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:1200396 Congenital adrenal enzyme deficiency semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:1200397 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:2100134 Congenital adrenal hyperplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:2200370 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0018483 secondary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:closeMatch NANDO:1200353 Severe congenital neutropenia semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:closeMatch NANDO:2200745 Severe congenital neutropenia semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:closeMatch NANDO:1200165 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:closeMatch NANDO:2200576 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch NANDO:1200428 Pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:1200388 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:2100138 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:2200382 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:closeMatch NANDO:1200656 Hypophosphatasia semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:closeMatch NANDO:2201012 Hypophosphatasia semapv:MappingInversion +MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:closeMatch NANDO:1200761 Neonatal adrenoleukodystrophy semapv:MappingInversion +MONDO:0018612 congenital hypothyroidism skos:closeMatch NANDO:2200333 Congenital hypothyroidism semapv:MappingInversion +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:closeMatch NANDO:2200325 Adipsic hypernatremia semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch NANDO:2100133 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch NANDO:2200367 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:1200311 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:2100182 Paroxysmal nocturnal haemoglobinuria semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:2200621 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0018645 IgG4-related sclerosing cholangitis skos:closeMatch NANDO:1200928 IgG4-related sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:closeMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:closeMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0018666 hepatoblastoma skos:closeMatch NANDO:2200046 Hepatoblastoma semapv:MappingInversion +MONDO:0018671 IgG4-related kidney disease skos:closeMatch NANDO:1200930 IgG4-related kidney disease semapv:MappingInversion +MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0018737 catastrophic antiphospholipid syndrome skos:closeMatch NANDO:1200270 Catastrophic antiphospholipid syndrome semapv:MappingInversion +MONDO:0018746 mucous membrane pemphigoid skos:closeMatch NANDO:1200634 Mucous membrane pemphigoid semapv:MappingInversion +MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch NANDO:1200635 Epidermolysis bullosa acquisita semapv:MappingInversion +MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:closeMatch NANDO:2200312 Congenital hypopituitarism semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:1200466 Familial cold autoinflammatorysyndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2201068 familial cold autoinflammatory syndrome semapv:MappingInversion +MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:closeMatch NANDO:1200019 Intermediate Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0018781 KID syndrome skos:closeMatch NANDO:1200621 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0018781 KID syndrome skos:closeMatch NANDO:2200996 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0018800 Kallmann syndrome skos:closeMatch NANDO:2200381 Kallmann syndrome semapv:MappingInversion +MONDO:0018808 Caroli syndrome skos:closeMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0018824 pyoderma gangrenosum skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch NANDO:1200574 Neuronal migration defects semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch NANDO:2200817 Lissencephaly semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch NANDO:2100267 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch NANDO:2200936 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:1200996 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:2100244 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:2200893 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch NANDO:1200078 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch NANDO:2200560 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0018869 cobblestone lissencephaly skos:closeMatch NANDO:1201072 Cobblestone brain malformation semapv:MappingInversion +MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch NANDO:2200011 Acute megakaryoblastic leukemia semapv:MappingInversion +MONDO:0018878 branchiootic syndrome skos:closeMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:closeMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:closeMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200316 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:2100189 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:2200649 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018901 left ventricular noncompaction skos:closeMatch NANDO:2200231 Non-compaction of the ventricle semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200725 Primary membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0018907 craniopharyngioma skos:closeMatch NANDO:2200091 Craniopharyngioma semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:1200637 Oculocutaneous albinism semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:1200641 Non-syndromic oculocutaneous albinism semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:2200986 Oculocutaneous albinism semapv:MappingInversion +MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch NANDO:2200462 Maturity-onset diabetes of the young semapv:MappingInversion +MONDO:0018919 McCune-Albright syndrome skos:closeMatch NANDO:2200412 McCune-Albright syndrome semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:closeMatch NANDO:1200307 Cold agglutinin disease semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:closeMatch NANDO:2200618 Cold agglutinin disease semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch NANDO:1200125 Mucolipidosis III semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch NANDO:2200568 Mucolipidosis III semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NANDO:1200100 Sanfilippo disease semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NANDO:2200549 Mucopolysaccharidosis type III semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NANDO:1200105 Morquio syndrome semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NANDO:2200550 Mucopolysaccharidosis type IV semapv:MappingInversion +MONDO:0018940 congenital myasthenic syndrome skos:closeMatch NANDO:1200021 Congenital myasthenic syndrome semapv:MappingInversion +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch NANDO:1200015 McLeod syndrome semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:1200481 Myotubular myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:closeMatch NANDO:1200480 Minicore myopathy semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:closeMatch NANDO:2200871 Multicore disease semapv:MappingInversion +MONDO:0018949 distal myopathy skos:closeMatch NANDO:1200216 Distal myopathy semapv:MappingInversion +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency semapv:MappingInversion +MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch NANDO:2200969 Loeys-Dietz syndrome semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:closeMatch NANDO:1200478 Nemaline myopathy semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:closeMatch NANDO:2200869 Nemaline myopathy semapv:MappingInversion +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch NANDO:1200500 Sodium channel myotonia semapv:MappingInversion +MONDO:0018960 congenital primary megaureter skos:closeMatch NANDO:2200184 Megaureter semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:closeMatch NANDO:1200712 Alport's syndrome semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:closeMatch NANDO:2200126 Alport syndrome semapv:MappingInversion +MONDO:0018974 paraneoplastic pemphigus skos:closeMatch NANDO:1200231 Paraneoplastic pemphigus semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:2100287 von Recklinghausen's disease semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0018979 multifocal motor neuropathy skos:closeMatch NANDO:1200031 Multifocal motor neuropathy semapv:MappingInversion +MONDO:0018982 Niemann-Pick disease type C skos:closeMatch NANDO:1200063 Niemann-Pick disease type C semapv:MappingInversion +MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch NANDO:1200018 Charcot-Marie-Tooth disease type 2 semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:closeMatch NANDO:1200680 Noonan syndrome semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:closeMatch NANDO:2200413 Noonan syndrome semapv:MappingInversion +MONDO:0018999 LCAT deficiency skos:closeMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0019004 kidney Wilms tumor skos:closeMatch NANDO:2200043 Wilms tumour semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2100015 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2200170 Medullary cystic kidney semapv:MappingInversion +MONDO:0019009 isolated focal cortical dysplasia skos:closeMatch NANDO:1200564 Focal cortical dysplasia semapv:MappingInversion +MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:closeMatch NANDO:1200017 Charcot-Marie-Tooth disease type 1 semapv:MappingInversion +MONDO:0019012 Carpenter syndrome skos:closeMatch NANDO:2200847 Carpenter syndrome semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:closeMatch NANDO:1200873 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:closeMatch NANDO:2201011 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0019029 segmental odontomaxillary dysplasia skos:closeMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0019035 pancreatoblastoma skos:closeMatch NANDO:2200082 Pancreatoblastoma semapv:MappingInversion +MONDO:0019037 progressive supranuclear palsy skos:closeMatch NANDO:1200009 Progressive supranuclear palsy semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:1100014 Chromosome abnormality semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:2100279 Chromosome abnormality semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:2100280 Chromosome abnormality semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:closeMatch NANDO:1200575 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:closeMatch NANDO:2200836 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0019052 inborn errors of metabolism skos:closeMatch NANDO:2100159 Inborn errors of metabolism semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:closeMatch NANDO:1200758 Peroxisomal disorder semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:closeMatch NANDO:2100166 Peroxisomal disorder semapv:MappingInversion +MONDO:0019056 neuromuscular disease skos:closeMatch NANDO:1100001 Neuromuscular disease semapv:MappingInversion +MONDO:0019056 neuromuscular disease skos:closeMatch NANDO:2100214 Neuromuscular disease semapv:MappingInversion +MONDO:0019064 hereditary spastic paraplegia skos:closeMatch NANDO:1200052 Hereditary spastic paraplegia semapv:MappingInversion +MONDO:0019065 amyloidosis skos:closeMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0019079 proximal spinal muscular atrophy skos:closeMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:closeMatch NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:closeMatch NANDO:1200633 Bullous pemphigoid semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:closeMatch NANDO:1200027 Neuromyelitis optica spectrum disorders semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:closeMatch NANDO:2201322 Neuromyelitis optica semapv:MappingInversion +MONDO:0019123 continuous spikes and waves during sleep skos:closeMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:closeMatch NANDO:1200262 Microscopic polyangiitis semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:closeMatch NANDO:2200426 Microscopic polyangiitis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:1200283 Relapsing polychondritis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:2100154 Relapsing Polychondritis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:2200428 Relapsing polychondritis semapv:MappingInversion +MONDO:0019127 polymyositis skos:closeMatch NANDO:1200276 Polymyositis semapv:MappingInversion +MONDO:0019139 acquired hemophilia skos:closeMatch NANDO:1200898 Acquired hemophilia A semapv:MappingInversion +MONDO:0019142 inherited porphyria skos:closeMatch NANDO:2200610 Congenital porphyria semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:1201080 Protein C deficiency semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:2100197 Protein C deficiency semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:2200689 Protein C deficiency semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch NANDO:1200359 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch NANDO:2200759 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:1200142 Acid lipase deficiency semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:1200143 Wolman disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:2200570 Acid lipase deficiency semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:2201232 Wolman disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:closeMatch NANDO:1200144 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:closeMatch NANDO:2201233 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch NANDO:2200391 Androgen insensitivity syndrome semapv:MappingInversion +MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch NANDO:2200368 Pseudohypoaldosteronism type I semapv:MappingInversion +MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch NANDO:2200369 Pseudohypoaldosteronism type II semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:closeMatch NANDO:1200381 Central precocious puberty semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:closeMatch NANDO:2200377 Gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0019169 pyruvate dehydrogenase deficiency skos:closeMatch NANDO:2200518 Pyruvate dehydrogenase complex deficiency semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:closeMatch NANDO:1200261 Polyarteritis nodosa semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:closeMatch NANDO:2200425 Polyangiitis nodosa semapv:MappingInversion +MONDO:0019171 familial long QT syndrome skos:closeMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0019172 aniridia skos:closeMatch NANDO:1201001 Aniridia semapv:MappingInversion +MONDO:0019174 obsolete infantile Refsum disease skos:closeMatch NANDO:1200762 Infantile Refsum disease semapv:MappingInversion +MONDO:0019175 primary lymphedema skos:closeMatch NANDO:2201031 Primary lymphedema semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:1200744 Osler disease semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:2100296 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:2201034 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch NANDO:1200461 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch NANDO:2200955 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis semapv:MappingInversion +MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch NANDO:1200860 Acquired generalized lipodystrophy semapv:MappingInversion +MONDO:0019200 retinitis pigmentosa skos:closeMatch NANDO:1200431 Retinitis pigmentosa semapv:MappingInversion +MONDO:0019203 acute interstitial pneumonia skos:closeMatch NANDO:1200420 Acute interstitial pneumonia semapv:MappingInversion +MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch NANDO:1200551 Bickerstaff's brainstem encephalitis semapv:MappingInversion +MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch NANDO:2200506 Inborn errors of bile acid metabolism semapv:MappingInversion +MONDO:0019233 disorder of peroxisomal beta oxidation skos:closeMatch NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch NANDO:1200759 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch NANDO:2200575 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200155 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201244 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch NANDO:1200137 Schindler disease type 3 semapv:MappingInversion +MONDO:0019269 ichthyosis skos:closeMatch NANDO:1200618 Ichthyosis syndrome semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NANDO:1200616 Congenital ichthyosiform erythroderma semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch NANDO:1200638 Hermansky-Pudlak syndrome semapv:MappingInversion +MONDO:0019322 pemphigus vegetans skos:closeMatch NANDO:1200232 Pemphigus vegetans semapv:MappingInversion +MONDO:0019323 pemphigus erythematosus skos:closeMatch NANDO:1200233 Pemphigus erythematosus semapv:MappingInversion +MONDO:0019324 pemphigus foliaceus skos:closeMatch NANDO:1200230 Pemphigus foliaceus semapv:MappingInversion +MONDO:0019328 macrocystic lymphatic malformation skos:closeMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0019338 sarcoidosis skos:closeMatch NANDO:1200415 Sarcoidosis semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:closeMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:closeMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:closeMatch NANDO:1200117 Sialidosis type 1 semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:closeMatch NANDO:2201191 Sialidosis type 1 semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:closeMatch NANDO:1200679 Sotos syndrome semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:closeMatch NANDO:2200953 Sotos syndrome semapv:MappingInversion +MONDO:0019350 hereditary spherocytosis skos:closeMatch NANDO:2200622 Hereditary spherocytosis semapv:MappingInversion +MONDO:0019353 Stargardt disease skos:closeMatch NANDO:1200933 Stargardt disease semapv:MappingInversion +MONDO:0019355 adult-onset Still disease skos:closeMatch NANDO:1200282 Adult Still's disease semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:closeMatch NANDO:1200146 Free sialic acid storage disease semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:closeMatch NANDO:2200572 Free Sialic Acid Storage Disease semapv:MappingInversion +MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch NANDO:2200059 Desmoplastic small round cell tumors semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:1200303 Fanconi anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:1200891 Fanconi anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:2200652 Fanconi anemia semapv:MappingInversion +MONDO:0019399 Isaac syndrome skos:closeMatch NANDO:1200510 Isaacs syndrome semapv:MappingInversion +MONDO:0019402 beta thalassemia skos:closeMatch NANDO:2201274 β-thalassemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:1200885 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:2100178 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:2200615 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch NANDO:2201362 Astley-Kendall dysplasia semapv:MappingInversion +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:closeMatch NANDO:2200647 Neonatal alloimmune thrombocytopenia semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch NANDO:1200471 Articular-type juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch NANDO:2201056 Oligoarticular juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NANDO:1200470 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NANDO:2201055 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:closeMatch NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019438 AL amyloidosis skos:closeMatch NANDO:1200211 Amyloid light-chain amyloidosis semapv:MappingInversion +MONDO:0019443 dextro-looped transposition of the great arteries skos:closeMatch NANDO:1200698 Corrected transposition of great arteries semapv:MappingInversion +MONDO:0019448 benign adult familial myoclonic epilepsy skos:closeMatch NANDO:1200956 Benign adult familial myoclonus epilepsy semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch NANDO:2200012 NK cell leukemia semapv:MappingInversion +MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type semapv:MappingInversion +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma semapv:MappingInversion +MONDO:0019480 Langerhans cell sarcoma skos:closeMatch NANDO:2200036 Langerhans cell sarcoma semapv:MappingInversion +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:closeMatch NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome semapv:MappingInversion +MONDO:0019487 epilepsy with myoclonic absences skos:closeMatch NANDO:1200589 Myoclonic absence epilepsy semapv:MappingInversion +MONDO:0019499 Turner syndrome skos:closeMatch NANDO:2200410 Turner syndrome semapv:MappingInversion +MONDO:0019501 Usher syndrome skos:closeMatch NANDO:1200941 Usher syndrome semapv:MappingInversion +MONDO:0019503 anterior segment dysgenesis skos:closeMatch NANDO:1201000 Anterior segment dysgenesis semapv:MappingInversion +MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch NANDO:1200306 Warm antibody hemolytic anemia semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch NANDO:1200308 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch NANDO:2200619 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch NANDO:1200309 Mixed-type autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome semapv:MappingInversion +MONDO:0019563 CREST syndrome skos:closeMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:1200608 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:2100286 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:2201002 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019607 unspecified juvenile idiopathic arthritis skos:closeMatch NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019609 Zellweger spectrum disorders skos:closeMatch NANDO:1200760 Zellweger syndrome semapv:MappingInversion +MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome semapv:MappingInversion +MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch NANDO:1200419 Non-specific interstitial pneumonia semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:closeMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:closeMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0019637 renal hypoplasia skos:closeMatch NANDO:2200155 Hypoplastic kidney semapv:MappingInversion +MONDO:0019638 renal dysplasia skos:closeMatch NANDO:2200161 Renal dysplasia semapv:MappingInversion +MONDO:0019639 congenital megacalycosis skos:closeMatch NANDO:2200177 Megacalycosis semapv:MappingInversion +MONDO:0019642 vitamin D-dependent rickets, type 2 skos:closeMatch NANDO:1200783 Vitamin D-dependent rickets, type 2 semapv:MappingInversion +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis skos:closeMatch NANDO:2200111 Diffuse mesangial sclerosis semapv:MappingInversion +MONDO:0019669 hypochondrogenesis skos:closeMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0019701 chondrodysplasia punctata skos:closeMatch NANDO:2201017 Chondrodysplasia punctata semapv:MappingInversion +MONDO:0019731 AApoAI amyloidosis skos:closeMatch NANDO:1201062 Familial amyloid polyneuropathy type 3 semapv:MappingInversion +MONDO:0019734 juvenile polymyositis skos:closeMatch NANDO:2200419 Juvenile polymyositis semapv:MappingInversion +MONDO:0019736 dense deposit disease skos:closeMatch NANDO:1200739 Primary membranoproliferative glomerulonephritis type II semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200319 Secondary thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019751 autoinflammatory syndrome skos:closeMatch NANDO:2100156 Autoinflammatory disease semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0019787 autoimmune enteropathy skos:closeMatch NANDO:2200923 Autoimmune enteropathy semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch NANDO:1200819 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch NANDO:2201270 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0019804 tracheomalacia skos:closeMatch NANDO:2200195 Tracheomalacia semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch NANDO:1200246 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch NANDO:2201007 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0019813 congenital tricuspid stenosis skos:closeMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0019832 acquired pituitary hormone deficiency skos:closeMatch NANDO:2200313 Acquired hypopituitarism semapv:MappingInversion +MONDO:0019854 thyroid ectopia skos:closeMatch NANDO:2200330 Ectoic thyroid semapv:MappingInversion +MONDO:0019855 athyreosis skos:closeMatch NANDO:2200331 Thyroid agenesis semapv:MappingInversion +MONDO:0019933 acromegaly skos:closeMatch NANDO:2100112 Acromegaly semapv:MappingInversion +MONDO:0019933 acromegaly skos:closeMatch NANDO:2200315 Acromegaly semapv:MappingInversion +MONDO:0019948 reducing body myopathy skos:closeMatch NANDO:2200875 Reducing body myopathy semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:closeMatch NANDO:1200477 Congenital myopathy semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:closeMatch NANDO:2100234 Congenital myopathy semapv:MappingInversion +MONDO:0019959 glucagonoma skos:closeMatch NANDO:2100142 Glucagonoma semapv:MappingInversion +MONDO:0019959 glucagonoma skos:closeMatch NANDO:2200397 Glucagonoma semapv:MappingInversion +MONDO:0019960 VIPoma skos:closeMatch NANDO:2200394 Vipoma semapv:MappingInversion +MONDO:0019983 multiloculated renal cyst skos:closeMatch NANDO:2200171 Multilocular cysts of the kidney semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:1200776 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:2100126 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:2200349 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0020007 absence of the pulmonary artery skos:closeMatch NANDO:2200282 Unilateral absence of a pulmonary artery semapv:MappingInversion +MONDO:0020022 central nervous system malformation skos:closeMatch NANDO:2200118 Central nervous system malformation syndrome semapv:MappingInversion +MONDO:0020040 46,XY disorder of sex development skos:closeMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:closeMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:closeMatch NANDO:2100095 Absent pulmonary valve semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:closeMatch NANDO:2200280 Absent pulmonary valve semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch NANDO:1200645 Ehlers-Danlos Syndrome semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch NANDO:2200607 Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch NANDO:1200953 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch NANDO:2100237 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0020088 familial partial lipodystrophy skos:closeMatch NANDO:1200861 Familial partial lipodystrophy semapv:MappingInversion +MONDO:0020099 inherited sideroblastic anemia skos:closeMatch NANDO:1200892 Hereditary sideroblastic anemia semapv:MappingInversion +MONDO:0020102 hereditary stomatocytosis skos:closeMatch NANDO:2200623 Hereditary stomatocytosis semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch NANDO:1200305 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch NANDO:2100181 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:closeMatch NANDO:1200486 Muscular dystrophy semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:closeMatch NANDO:2100233 Muscular dystrophy semapv:MappingInversion +MONDO:0020242 hereditary macular dystrophy skos:closeMatch NANDO:1200931 Macular dystrophy semapv:MappingInversion +MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch NANDO:2200006 Acute myeloid leukemia with maturation semapv:MappingInversion +MONDO:0020321 acute undifferentiated leukemia skos:closeMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch NANDO:2200021 Anaplastic large cell lymphoma semapv:MappingInversion +MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:closeMatch NANDO:1200886 Congenital dyserythropoietic anemia type I semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:closeMatch NANDO:1200889 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:closeMatch NANDO:2200613 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch NANDO:1201079 Periventricular nodular heterotopia semapv:MappingInversion +MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch NANDO:1200036 Multiple system atrophy, Parkinsonian type semapv:MappingInversion +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:closeMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0020391 pulmonary artery coming from the aorta skos:closeMatch NANDO:2200281 Origin of pulmonary artery from ascending aorta semapv:MappingInversion +MONDO:0020398 congenital mitral stenosis skos:closeMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0020400 congenital supravalvular mitral ring skos:closeMatch NANDO:2200308 Supramitral ring semapv:MappingInversion +MONDO:0020413 encircling double aortic arch skos:closeMatch NANDO:2200290 Double aortic arch disease semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:closeMatch NANDO:2100090 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:closeMatch NANDO:2200274 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch NANDO:2200267 Atrial septal defect, sinus venosus type semapv:MappingInversion +MONDO:0020439 patent foramen ovale skos:closeMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020453 congenital partial pulmonary venous return anomaly skos:closeMatch NANDO:2200272 Partial anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0020459 unstable hemoglobin disease skos:closeMatch NANDO:2200625 Unstable hemoglobin disease semapv:MappingInversion +MONDO:0020460 acquired von willebrand syndrome skos:closeMatch NANDO:1200899 Acquired von Willebrand disease semapv:MappingInversion +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:closeMatch NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:closeMatch NANDO:2100111 Pituitary gigantism semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:closeMatch NANDO:2200314 Pituitary gigantism semapv:MappingInversion +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:closeMatch NANDO:2200365 Aldosterone synthase deficiency semapv:MappingInversion +MONDO:0020491 subcortical band heterotopia skos:closeMatch NANDO:1201070 Subcortical band heterotopia semapv:MappingInversion +MONDO:0020492 hemimegalencephaly skos:closeMatch NANDO:1200563 Hemimegalencephaly semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200001 B-cell precursor lymphoblastic leukemia semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200022 Precursor B lymphoblastic lymphoma semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:closeMatch NANDO:2100213 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:closeMatch NANDO:2200812 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch NANDO:2200101 Atypical teratoid, rhabdoid tumour semapv:MappingInversion +MONDO:0020586 factor V deficiency skos:closeMatch NANDO:2200674 Factor V deficiency semapv:MappingInversion +MONDO:0020587 factor XI deficiency skos:closeMatch NANDO:2200679 Factor XI deficiency semapv:MappingInversion +MONDO:0020599 acquired coagulation factor deficiency skos:closeMatch NANDO:1200896 Autoimmune acquired coagulation factor deficiency semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch NANDO:1200630 Conradi Hünermann Happle syndrome semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:closeMatch NANDO:2100248 Autoimmune encephalitis semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:closeMatch NANDO:2200902 Autoimmune encephalitis semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:closeMatch NANDO:1200367 Polycystic kidney disease semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:closeMatch NANDO:2200152 Polycystic kidney disease semapv:MappingInversion +MONDO:0020690 adult glioblastoma skos:closeMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:closeMatch NANDO:1200611 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:closeMatch NANDO:2200988 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:closeMatch NANDO:2100046 Bundle branch block semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:closeMatch NANDO:2200215 Bundle branch block semapv:MappingInversion +MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch NANDO:2200915 Familial adenomatous polyposis semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0021081 anti-NMDA receptor encephalitis skos:closeMatch NANDO:2201317 Anti-NMDA receptor encephalitis semapv:MappingInversion +MONDO:0021094 immunodeficiency disease skos:closeMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0021133 acquired factor XIII deficiency skos:closeMatch NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 semapv:MappingInversion +MONDO:0021134 acquired factor X deficiency skos:closeMatch NANDO:1201048 Acquired factor X inhibitor semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:closeMatch NANDO:2100061 Cardiac tumor semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:closeMatch NANDO:2200236 Cardiac tumor semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:closeMatch NANDO:2100082 Aorto-pulmonary window semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:closeMatch NANDO:2200262 Aorto-pulmonary window semapv:MappingInversion +MONDO:0021915 arakawa syndrome 2 skos:closeMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0021969 Banti syndrome skos:closeMatch NANDO:1200438 Idiopathic portal hypertension semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:2100285 Pustular psoriasis semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:2201001 Pustular psoriasis semapv:MappingInversion +MONDO:0022308 corticobasal degeneration disorder skos:closeMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:closeMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:closeMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:closeMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:closeMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022800 type 2 collagenopathy skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0022858 continuous spike-wave during slow sleep syndrome skos:closeMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0022880 obsolete corticobasal degeneration skos:closeMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:closeMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0023419 hyperprolinemia skos:closeMatch NANDO:2200471 Hyperprolinemia semapv:MappingInversion +MONDO:0024291 vascular malformation skos:closeMatch NANDO:2100295 Vascular malformation semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:2100144 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:2200401 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:1200780 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:2200402 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:2200403 Primary hypophosphatemic rickets semapv:MappingInversion +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:closeMatch NANDO:1200643 Pseudoxanthoma elasticum semapv:MappingInversion +MONDO:0024327 chronic renal failure syndrome skos:closeMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A semapv:MappingInversion +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch NANDO:1200408 MC2R deficiency semapv:MappingInversion +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch NANDO:1200208 Familial idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NANDO:2200682 Von Willebrand disease semapv:MappingInversion +MONDO:0024623 otorhinolaryngologic disease skos:closeMatch NANDO:1100015 Otorhinolaryngological disease semapv:MappingInversion +MONDO:0024644 myocardial ischemia skos:closeMatch NANDO:2100070 Ischemic heart disease semapv:MappingInversion +MONDO:0024677 pancreatic insulinoma skos:closeMatch NANDO:2200398 Insulinoma semapv:MappingInversion +MONDO:0024746 immature teratoma skos:closeMatch NANDO:2200106 Immature teratoma semapv:MappingInversion +MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:closeMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:closeMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0037792 carbohydrate metabolism disease skos:closeMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0037858 inherited fatty acid metabolism disorder skos:closeMatch NANDO:2100162 Disorder of fatty-acid metabolism semapv:MappingInversion +MONDO:0037871 amino acid metabolism disease skos:closeMatch NANDO:2100160 Disorder of amino acid metabolism semapv:MappingInversion +MONDO:0037939 porphyria skos:closeMatch NANDO:1200811 Porphyria semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2100216 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2200816 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2201287 Altman type IV sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042981 aortic valve stenosis skos:closeMatch NANDO:2200306 Aortic valve stenosis semapv:MappingInversion +MONDO:0042983 neurocutaneous syndrome skos:closeMatch NANDO:2100220 Neurocutaneous syndrome semapv:MappingInversion +MONDO:0043094 ichthyosis, follicular skos:closeMatch NANDO:1200628 Ichthyosis follicularis semapv:MappingInversion +MONDO:0043152 negative rheumatoid factor polyarthritis skos:closeMatch NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0043267 rheumatoid vasculitis skos:closeMatch NANDO:1200265 Rheumatoid vasculitis semapv:MappingInversion +MONDO:0043317 amyopathic dermatomyositis skos:closeMatch NANDO:1200275 Amyopathic dermatomyositis semapv:MappingInversion +MONDO:0043472 ectopic ACTH secretion syndrome skos:closeMatch NANDO:2200351 Ectopic ACTH syndrome semapv:MappingInversion +MONDO:0043768 thrombocytopenic purpura skos:closeMatch NANDO:2100188 Thrombocytopenic purpura semapv:MappingInversion +MONDO:0044354 obsolete Rosai-Dorfman disease skos:closeMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch NANDO:1200612 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch NANDO:2200989 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044744 prekallikrein deficiency skos:closeMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma semapv:MappingInversion +MONDO:0044807 inherited dystonia skos:closeMatch NANDO:1200511 Hereditary dystonia semapv:MappingInversion +MONDO:0044808 obsolete early onset primary dystonia skos:closeMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:closeMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:closeMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:closeMatch NANDO:2100200 Myelofibrosis semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:closeMatch NANDO:2200692 Myelofibrosis semapv:MappingInversion +MONDO:0044917 T-lymphoblastic lymphoma skos:closeMatch NANDO:2200023 Precursor T lymphoblastic lymphoma semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:closeMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:closeMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0045022 disorder of organic acid metabolism skos:closeMatch NANDO:2100161 Disorder of organic acid metabolism semapv:MappingInversion +MONDO:0045045 selective IgG immunodeficiency skos:closeMatch NANDO:1200346 IgG subclass deficiency semapv:MappingInversion +MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:closeMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch NANDO:1200593 Ohtahara syndrome semapv:MappingInversion +MONDO:0100064 tyrosine hydroxylase deficiency skos:closeMatch NANDO:2200595 Tyrosine hydroxylase deficiency semapv:MappingInversion +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch NANDO:2200662 Familial platelet disorder with propensity to myeloid. semapv:MappingInversion +MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:closeMatch NANDO:1200587 Dravet syndrome semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:closeMatch NANDO:2200877 Severe myoclonic epilepsy in infancy semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:closeMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:closeMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100189 apolipoprotein A-I deficiency skos:closeMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch NANDO:2200737 STAT5b deficiency semapv:MappingInversion +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:closeMatch NANDO:1200997 A20 haploinsufficiency semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:closeMatch NANDO:2200458 A20 haploinsufficiency semapv:MappingInversion +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl index 8bdc1264..248a59cb 100644 --- a/src/ontology/external/nando-mappings.robot.owl +++ b/src/ontology/external/nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -30,6 +30,12 @@ + + + + + +