diff --git a/src/ontology/reports/sync-synonym/synonym_sync_combined_cases.robot.tsv b/src/ontology/reports/sync-synonym/synonym_sync_combined_cases.robot.tsv index 9b952c5a..ceedd816 100644 --- a/src/ontology/reports/sync-synonym/synonym_sync_combined_cases.robot.tsv +++ b/src/ontology/reports/sync-synonym/synonym_sync_combined_cases.robot.tsv @@ -1026,7 +1026,7 @@ MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency oio:hasExactSynonym Glycogen storage disease, type 10 Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency added Glycogen storage disease, type 10 Orphanet:97234 Orphanet MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency oio:hasExactSynonym Glycogen storage disease, type X Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency added Glycogen storage disease, type X Orphanet:97234 Orphanet MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency oio:hasExactSynonym Glycogenosis due to phosphoglycerate mutase 2 deficiency Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency added Glycogenosis due to phosphoglycerate mutase 2 deficiency Orphanet:97234 Orphanet -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency oio:hasExactSynonym PGAM-M deficiency Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency added PGAM-M deficiency Orphanet:97234 Orphanet +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency oio:hasExactSynonym PGAM-M deficiency Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency added PGAM-M deficiency Orphanet:97234 Orphanet MONDO:0009869 isolated Pierre-Robin syndrome oio:hasExactSynonym PRS Orphanet:718 Isolated Pierre Robin sequence http://purl.obolibrary.org/obo/mondo#ABBREVIATION added PRS Orphanet:718 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome oio:hasExactSynonym Pili torti-developmental delay-neurological abnormalities syndrome Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome added Pili torti-developmental delay-neurological abnormalities syndrome Orphanet:2891 Orphanet MONDO:0009872 Bjornstad syndrome oio:hasExactSynonym Hearing loss-pili torti-hypogonadism syndrome Orphanet:123 Björnstad syndrome added Hearing loss-pili torti-hypogonadism syndrome Orphanet:123 Orphanet @@ -3567,9 +3567,7 @@ MONDO:0017004 partial monosomy of the short arm of chromosome X oio:hasExactSyno MONDO:0017007 partial deletion of the long arm of chromosome X oio:hasExactSynonym Partial deletion of the long arm of chromosome X syndrome Orphanet:263756 Partial deletion of the long arm of chromosome X syndrome added Partial deletion of the long arm of chromosome X syndrome Orphanet:263756 Orphanet MONDO:0017008 partial duplication of chromosome X oio:hasExactSynonym Partial duplication of chromosome X syndrome Orphanet:263768 Partial duplication of chromosome X syndrome added Partial duplication of chromosome X syndrome Orphanet:263768 Orphanet MONDO:0017009 partial duplication of the short arm of chromosome X oio:hasExactSynonym Partial duplication of the short arm of chromosome X syndrome Orphanet:263775 Partial duplication of the short arm of chromosome X syndrome added Partial duplication of the short arm of chromosome X syndrome Orphanet:263775 Orphanet -MONDO:0017009 partial duplication of the short arm of chromosome X oio:hasExactSynonym Partial trisomy of chromosome Xp Orphanet:263775 Partial duplication of the short arm of chromosome X syndrome added Partial trisomy of chromosome Xp Orphanet:263775 Orphanet MONDO:0017010 partial duplication of the long arm of chromosome X oio:hasExactSynonym Partial duplication of the long arm of chromosome X syndrome Orphanet:263783 Partial duplication of the long arm of chromosome X syndrome added Partial duplication of the long arm of chromosome X syndrome Orphanet:263783 Orphanet -MONDO:0017010 partial duplication of the long arm of chromosome X oio:hasExactSynonym Partial trisomy of chromosome Xq Orphanet:263783 Partial duplication of the long arm of chromosome X syndrome added Partial trisomy of chromosome Xq Orphanet:263783 Orphanet MONDO:0017012 partial duplication of the short arm of chromosome 1 oio:hasExactSynonym Partial duplication of the short arm of chromosome 1 syndrome Orphanet:264431 Partial duplication of the short arm of chromosome 1 syndrome added Partial duplication of the short arm of chromosome 1 syndrome Orphanet:264431 Orphanet MONDO:0017013 trisomy 8p oio:hasExactSynonym Trisomy 8p syndrome Orphanet:264450 Trisomy 8p syndrome added Trisomy 8p syndrome Orphanet:264450 Orphanet MONDO:0017014 interstitial lung disease specific to childhood oio:hasExactSynonym Interstitial lung disease specific to childhood Orphanet:264656 Interstitial lung disease specific to childhood added Interstitial lung disease specific to childhood Orphanet:264656 Orphanet @@ -4001,7 +3999,7 @@ MONDO:0017725 Tay-Sachs disease, b variant, juvenile form oio:hasExactSynonym G MONDO:0017725 Tay-Sachs disease, b variant, juvenile form oio:hasExactSynonym HEXA disorder, juvenile form Orphanet:309185 Tay-Sachs disease, juvenile form added HEXA disorder, juvenile form Orphanet:309185 Orphanet MONDO:0017725 Tay-Sachs disease, b variant, juvenile form oio:hasExactSynonym Subacute juvenile Tay-Sachs disease Orphanet:309185 Tay-Sachs disease, juvenile form added Subacute juvenile Tay-Sachs disease Orphanet:309185 Orphanet MONDO:0017725 Tay-Sachs disease, b variant, juvenile form oio:hasExactSynonym Tay-Sachs disease, juvenile form Orphanet:309185 Tay-Sachs disease, juvenile form added Tay-Sachs disease, juvenile form Orphanet:309185 Orphanet -MONDO:0017726 Tay-Sachs disease, B variant, adult form oio:hasExactSynonym Beta-hexosaminidase subunit alpha deficiency, adult form Orphanet:309192 Tay-Sachs disease, adult form added Beta-hexosaminidase subunit alpha deficiency, adult form Orphanet:309192 Orphanet +MONDO:0017726 Tay-Sachs disease, B variant, adult form oio:hasExactSynonym Beta-hexosaminidase subunit alpha deficiency, adult form Orphanet:309192 Tay-Sachs disease, adult form added Beta-hexosaminidase subunit alpha deficiency, adult form Orphanet:309192 Orphanet MONDO:0017726 Tay-Sachs disease, B variant, adult form oio:hasExactSynonym GM2 gangliosidosis, Tay-Sachs variant, adult form Orphanet:309192 Tay-Sachs disease, adult form added GM2 gangliosidosis, Tay-Sachs variant, adult form Orphanet:309192 Orphanet MONDO:0017726 Tay-Sachs disease, B variant, adult form oio:hasExactSynonym GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form Orphanet:309192 Tay-Sachs disease, adult form added GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form Orphanet:309192 Orphanet MONDO:0017726 Tay-Sachs disease, B variant, adult form oio:hasExactSynonym HEXA disorder, adult form Orphanet:309192 Tay-Sachs disease, adult form added HEXA disorder, adult form Orphanet:309192 Orphanet @@ -5618,7 +5616,6 @@ MONDO:0020250 autosomal dominant optic atrophy oio:hasExactSynonym Autosomal do MONDO:0020289 congenital tricuspid malformation oio:hasExactSynonym Congenital tricuspid malformation Orphanet:98721 Congenital tricuspid malformation added Congenital tricuspid malformation Orphanet:98721 Orphanet MONDO:0020291 hypoplastic right heart syndrome oio:hasExactSynonym Hypoplastic right heart syndrome Orphanet:98723 Hypoplastic right heart syndrome added Hypoplastic right heart syndrome Orphanet:98723 Orphanet MONDO:0020292 congenital anomaly of the great arteries oio:hasExactSynonym Congenital anomaly of the great arteries Orphanet:98724 Congenital anomaly of the great arteries added Congenital anomaly of the great arteries Orphanet:98724 Orphanet -MONDO:0020292 congenital anomaly of the great arteries oio:hasExactSynonym Congenital aorta, aortic arch or pulmonary arteries anomaly Orphanet:98724 Congenital anomaly of the great arteries added Congenital aorta, aortic arch or pulmonary arteries anomaly Orphanet:98724 Orphanet MONDO:0020295 congenital pulmonary veins anomaly oio:hasExactSynonym Congenital pulmonary veins anomaly Orphanet:98729 Congenital pulmonary veins anomaly added Congenital pulmonary veins anomaly Orphanet:98729 Orphanet MONDO:0020296 congenital arteriovenous fistula oio:hasExactSynonym Congenital arteriovenous fistula Orphanet:98731 Congenital arteriovenous fistula added Congenital arteriovenous fistula Orphanet:98731 Orphanet MONDO:0020297 Noonan syndrome and Noonan-related syndrome oio:hasExactSynonym Noonan syndrome and Noonan-related syndrome Orphanet:98733 Noonan syndrome and Noonan-related syndrome added Noonan syndrome and Noonan-related syndrome Orphanet:98733 Orphanet @@ -6856,13 +6853,13 @@ MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency added Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency Orphanet:656300 Orphanet MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency added Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency Orphanet:656300 Orphanet MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency added Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency Orphanet:656300 Orphanet -MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym AD CID due to partial GP130 deficiency Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency added AD CID due to partial GP130 deficiency Orphanet:656313 Orphanet -MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym AD CID due to partial IL6ST deficiency Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency added AD CID due to partial IL6ST deficiency Orphanet:656313 Orphanet +MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym AD CID due to partial GP130 deficiency Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency added AD CID due to partial GP130 deficiency Orphanet:656313 Orphanet +MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym AD CID due to partial IL6ST deficiency Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency added AD CID due to partial IL6ST deficiency Orphanet:656313 Orphanet MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency added Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency Orphanet:656313 Orphanet MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency added Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency Orphanet:656313 Orphanet MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oio:hasExactSynonym Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency added Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency Orphanet:656313 Orphanet MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency oio:hasExactSynonym AR CID due to IL6R deficiency Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency added AR CID due to IL6R deficiency Orphanet:656326 Orphanet -MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency oio:hasExactSynonym Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency added Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency Orphanet:656326 Orphanet +MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency oio:hasExactSynonym Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency added Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency Orphanet:656326 Orphanet MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency oio:hasExactSynonym Autosomal recessive combined immunodeficiency due to IL6R deficiency Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency added Autosomal recessive combined immunodeficiency due to IL6R deficiency Orphanet:656326 Orphanet MONDO:0958119 embryonal tumor with multilayered rosettes oio:hasExactSynonym Embryonal tumor with multilayered rosettes Orphanet:656417 Embryonal tumor with multilayered rosettes added Embryonal tumor with multilayered rosettes Orphanet:656417 Orphanet MONDO:0958119 embryonal tumor with multilayered rosettes oio:hasExactSynonym ETMR Orphanet:656417 Embryonal tumor with multilayered rosettes http://purl.obolibrary.org/obo/mondo#ABBREVIATION added ETMR Orphanet:656417 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -8440,8 +8437,8 @@ MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym Johnson neur MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym Johnson-McMillin syndrome Orphanet:2316 Johnson neuroectodermal syndrome confirmed Johnson-McMillin syndrome Orphanet:2316 Orphanet MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym alopecia-anosmia-conductive hearing loss-hypogonadism syndrome alopecia-anosmia-conductive hearing loss-hypogonadism syndrome Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome Orphanet:2316 Johnson neuroectodermal syndrome confirmed alopecia-anosmia-conductive hearing loss-hypogonadism syndrome Orphanet:2316 Orphanet MONDO:0007837 Johnson neuroectodermal syndrome oio:hasExactSynonym alopecia-anosmia-deafness-hypogonadism syndrome alopecia-anosmia-deafness-hypogonadism syndrome Alopecia-anosmia-deafness-hypogonadism syndrome Orphanet:2316 Johnson neuroectodermal syndrome confirmed alopecia-anosmia-deafness-hypogonadism syndrome Orphanet:2316 Orphanet -MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(q23.3) Del(11)(q23.3) del(11)(q23.3) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(q23.3) Orphanet:2308 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(q23.3) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(q23.3) Orphanet:2308 Orphanet +MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(q23.3) Del(11)(q23.3) del(11)(q23.3) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(q23.3) Orphanet:2308 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Del(11)(qter) del(11)(qter) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(qter) Orphanet:2308 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Del(11)(qter) Orphanet:2308 Jacobsen syndrome confirmed Del(11)(qter) Orphanet:2308 Orphanet MONDO:0007838 Jacobsen syndrome oio:hasExactSynonym Jacobsen syndrome Orphanet:2308 Jacobsen syndrome confirmed Jacobsen syndrome Orphanet:2308 Orphanet @@ -9190,8 +9187,8 @@ MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams syndrome Orphane MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome Orphanet:904 Williams syndrome confirmed Williams-Beuren syndrome Orphanet:904 Orphanet MONDO:0008678 Williams syndrome oio:hasExactSynonym deletion 7q11.23 deletion 7q11.23 Deletion 7q11.23 Orphanet:904 Williams syndrome confirmed deletion 7q11.23 Orphanet:904 Orphanet MONDO:0008678 Williams syndrome oio:hasExactSynonym monosomy 7q11.23 monosomy 7q11.23 Monosomy 7q11.23 Orphanet:904 Williams syndrome confirmed monosomy 7q11.23 Orphanet:904 Orphanet -MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Orphanet:893 WAGR syndrome confirmed Del(11)(p13) Orphanet:893 Orphanet MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Del(11)(p13) del(11)(p13) Orphanet:893 WAGR syndrome confirmed Del(11)(p13) Orphanet:893 Orphanet +MONDO:0008681 WAGR syndrome oio:hasExactSynonym Del(11)(p13) Orphanet:893 WAGR syndrome confirmed Del(11)(p13) Orphanet:893 Orphanet MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome Orphanet:893 WAGR syndrome confirmed WAGR syndrome Orphanet:893 Orphanet MONDO:0008681 WAGR syndrome oio:hasExactSynonym Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Orphanet:893 WAGR syndrome confirmed Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Orphanet:893 Orphanet MONDO:0008681 WAGR syndrome oio:hasExactSynonym deletion 11p13 deletion 11p13 Deletion 11p13 Orphanet:893 WAGR syndrome confirmed deletion 11p13 Orphanet:893 Orphanet @@ -11433,8 +11430,8 @@ MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity oio:hasExactS MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity oio:hasExactSynonym PRPS1 superactivity Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity confirmed PRPS1 superactivity Orphanet:3222 Orphanet MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity oio:hasExactSynonym phosphoribosylpyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate synthetase superactivity Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed phosphoribosylpyrophosphate synthetase superactivity Orphanet:3222 Orphanet MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly oio:hasExactSynonym severe congenital encephalopathy due to MECP2 mutation severe congenital encephalopathy due to MECP2 mutation Severe congenital encephalopathy due to MECP2 mutation Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly confirmed severe congenital encephalopathy due to MECP2 mutation Orphanet:209370 Orphanet -MONDO:0010399 chromosome Xp21 deletion syndrome oio:hasExactSynonym Del(X)(p21) Del(X)(p21) del(x)(p21) Orphanet:261476 Xp21 deletion syndrome confirmed Del(X)(p21) Orphanet:261476 Orphanet MONDO:0010399 chromosome Xp21 deletion syndrome oio:hasExactSynonym Del(X)(p21) Orphanet:261476 Xp21 deletion syndrome confirmed Del(X)(p21) Orphanet:261476 Orphanet +MONDO:0010399 chromosome Xp21 deletion syndrome oio:hasExactSynonym Del(X)(p21) Del(X)(p21) del(x)(p21) Orphanet:261476 Xp21 deletion syndrome confirmed Del(X)(p21) Orphanet:261476 Orphanet MONDO:0010399 chromosome Xp21 deletion syndrome oio:hasExactSynonym Xp21 contiguous gene deletion syndrome Orphanet:261476 Xp21 deletion syndrome confirmed Xp21 contiguous gene deletion syndrome Orphanet:261476 Orphanet MONDO:0010399 chromosome Xp21 deletion syndrome oio:hasExactSynonym Xp21 microdeletion syndrome Orphanet:261476 Xp21 deletion syndrome confirmed Xp21 microdeletion syndrome Orphanet:261476 Orphanet MONDO:0010399 chromosome Xp21 deletion syndrome oio:hasExactSynonym complex glycerol kinase deficiency complex glycerol kinase deficiency Complex glycerol kinase deficiency Orphanet:261476 Xp21 deletion syndrome confirmed complex glycerol kinase deficiency Orphanet:261476 Orphanet @@ -11481,8 +11478,8 @@ MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome oio:hasExa MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 oio:hasExactSynonym MCAHS type 2 Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 confirmed MCAHS type 2 Orphanet:300496 Orphanet MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 oio:hasExactSynonym multiple congenital anomalies-hypotonia-seizures syndrome type 2 multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 confirmed multiple congenital anomalies-hypotonia-seizures syndrome type 2 Orphanet:300496 Orphanet MONDO:0010467 Xq27.3q28 duplication syndrome oio:hasExactSynonym Xq27.3-q28 microduplication syndrome Orphanet:261483 Xq27.3q28 duplication syndrome confirmed Xq27.3-q28 microduplication syndrome Orphanet:261483 Orphanet -MONDO:0010467 Xq27.3q28 duplication syndrome oio:hasExactSynonym dup(X)(q27.3q28) dup(X)(q27.3q28) dup(x)(q27.3q28) Orphanet:261483 Xq27.3q28 duplication syndrome confirmed dup(X)(q27.3q28) Orphanet:261483 Orphanet MONDO:0010467 Xq27.3q28 duplication syndrome oio:hasExactSynonym dup(X)(q27.3q28) dup(X)(q27.3q28) Dup(X)(q27.3q28) Orphanet:261483 Xq27.3q28 duplication syndrome confirmed dup(X)(q27.3q28) Orphanet:261483 Orphanet +MONDO:0010467 Xq27.3q28 duplication syndrome oio:hasExactSynonym dup(X)(q27.3q28) dup(X)(q27.3q28) dup(x)(q27.3q28) Orphanet:261483 Xq27.3q28 duplication syndrome confirmed dup(X)(q27.3q28) Orphanet:261483 Orphanet MONDO:0010467 Xq27.3q28 duplication syndrome oio:hasExactSynonym trisomy Xq27.3-q28 trisomy Xq27.3-q28 Trisomy Xq27.3-q28 Orphanet:261483 Xq27.3q28 duplication syndrome confirmed trisomy Xq27.3-q28 Orphanet:261483 Orphanet MONDO:0010467 Xq27.3q28 duplication syndrome oio:hasExactSynonym trisomy Xq27.3q28 trisomy Xq27.3q28 Trisomy Xq27.3q28 Orphanet:261483 Xq27.3q28 duplication syndrome confirmed trisomy Xq27.3q28 Orphanet:261483 Orphanet MONDO:0010472 developmental and epileptic encephalopathy, 36 oio:hasExactSynonym CDG syndrome type Is Orphanet:324422 ALG13-CDG confirmed CDG syndrome type Is Orphanet:324422 Orphanet @@ -11934,8 +11931,8 @@ MONDO:0010878 hereditary spastic paraplegia 6 oio:hasExactSynonym SPG6 Orphan MONDO:0010879 CODAS syndrome oio:hasExactSynonym CODAS syndrome Orphanet:1458 CODAS syndrome confirmed CODAS syndrome Orphanet:1458 Orphanet MONDO:0010879 CODAS syndrome oio:hasExactSynonym cerebrooculodentoauriculoskeletal syndrome cerebrooculodentoauriculoskeletal syndrome Cerebrooculodentoauriculoskeletal syndrome Orphanet:1458 CODAS syndrome confirmed cerebrooculodentoauriculoskeletal syndrome Orphanet:1458 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym 8q13 microdeletion syndrome Orphanet:2496 Mesomelia-synostoses syndrome confirmed 8q13 microdeletion syndrome Orphanet:2496 Orphanet -MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Del(8)q(13) del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome confirmed Del(8)q(13) Orphanet:2496 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome confirmed Del(8)q(13) Orphanet:2496 Orphanet +MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Del(8)q(13) Del(8)q(13) del(8)q(13) Orphanet:2496 Mesomelia-synostoses syndrome confirmed Del(8)q(13) Orphanet:2496 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym Verloes-David syndrome Orphanet:2496 Mesomelia-synostoses syndrome confirmed Verloes-David syndrome Orphanet:2496 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym mesomelia-synostoses syndrome mesomelia-synostoses syndrome Mesomelia-synostoses syndrome Orphanet:2496 Mesomelia-synostoses syndrome confirmed mesomelia-synostoses syndrome Orphanet:2496 Orphanet MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Orphanet:2496 Mesomelia-synostoses syndrome confirmed mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Orphanet:2496 Orphanet @@ -11944,8 +11941,8 @@ MONDO:0010881 mesomelia-synostoses syndrome oio:hasExactSynonym monosomy 8q13 m MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome oio:hasExactSynonym Zori-Stalker-Williams syndrome Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome confirmed Zori-Stalker-Williams syndrome Orphanet:2835 Orphanet MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Albright hereditary osteodystrophy type 3 Orphanet:1001 2q37 microdeletion syndrome confirmed Albright hereditary osteodystrophy type 3 Orphanet:1001 Orphanet MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Albright hereditary osteodystrophy-like syndrome Orphanet:1001 2q37 microdeletion syndrome confirmed Albright hereditary osteodystrophy-like syndrome Orphanet:1001 Orphanet -MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Del(2)(q37) Orphanet:1001 2q37 microdeletion syndrome confirmed Del(2)(q37) Orphanet:1001 Orphanet MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Del(2)(q37) Del(2)(q37) del(2)(q37) Orphanet:1001 2q37 microdeletion syndrome confirmed Del(2)(q37) Orphanet:1001 Orphanet +MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Del(2)(q37) Orphanet:1001 2q37 microdeletion syndrome confirmed Del(2)(q37) Orphanet:1001 Orphanet MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym brachydactyly-intellectual disability syndrome brachydactyly-intellectual disability syndrome Brachydactyly-intellectual disability syndrome Orphanet:1001 2q37 microdeletion syndrome confirmed brachydactyly-intellectual disability syndrome Orphanet:1001 Orphanet MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym deletion 2q37 deletion 2q37 Deletion 2q37 Orphanet:1001 2q37 microdeletion syndrome confirmed deletion 2q37 Orphanet:1001 Orphanet MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym 2q37 microdeletion syndrome Orphanet:1001 2q37 microdeletion syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed 2q37 microdeletion syndrome Orphanet:1001 Orphanet @@ -12815,8 +12812,8 @@ MONDO:0011927 tufted angioma oio:hasExactSynonym tufted angioma tufted angioma MONDO:0011928 caudal duplication oio:hasExactSynonym dipygus dipygus Dipygus Orphanet:1756 Caudal duplication confirmed dipygus Orphanet:1756 Orphanet MONDO:0011928 caudal duplication oio:hasExactSynonym split notochord syndrome split notochord syndrome Split notochord syndrome Orphanet:1756 Caudal duplication confirmed split notochord syndrome Orphanet:1756 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym 1p36 deletion syndrome Orphanet:1606 1p36 deletion syndrome confirmed 1p36 deletion syndrome Orphanet:1606 Orphanet -MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Del(1)(p36) del(1)(p36) Orphanet:1606 1p36 deletion syndrome confirmed Del(1)(p36) Orphanet:1606 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Orphanet:1606 1p36 deletion syndrome confirmed Del(1)(p36) Orphanet:1606 Orphanet +MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym Del(1)(p36) Del(1)(p36) del(1)(p36) Orphanet:1606 1p36 deletion syndrome confirmed Del(1)(p36) Orphanet:1606 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym deletion 1p36 deletion 1p36 Deletion 1p36 Orphanet:1606 1p36 deletion syndrome confirmed deletion 1p36 Orphanet:1606 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym deletion 1pter deletion 1pter Deletion 1pter Orphanet:1606 1p36 deletion syndrome confirmed deletion 1pter Orphanet:1606 Orphanet MONDO:0011929 chromosome 1p36 deletion syndrome oio:hasExactSynonym monosomy 1p36 monosomy 1p36 Monosomy 1p36 Orphanet:1606 1p36 deletion syndrome confirmed monosomy 1p36 Orphanet:1606 Orphanet @@ -12965,8 +12962,8 @@ MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy oio:hasExactSyn MONDO:0012075 oligodontia-cancer predisposition syndrome oio:hasExactSynonym autosomal dominant ectodermal dysplasia-cancer predisposition syndrome autosomal dominant ectodermal dysplasia-cancer predisposition syndrome Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome Orphanet:300576 Oligodontia-cancer predisposition syndrome confirmed autosomal dominant ectodermal dysplasia-cancer predisposition syndrome Orphanet:300576 Orphanet MONDO:0012075 oligodontia-cancer predisposition syndrome oio:hasExactSynonym oligodontia-cancer predisposition syndrome oligodontia-cancer predisposition syndrome Oligodontia-cancer predisposition syndrome Orphanet:300576 Oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed oligodontia-cancer predisposition syndrome Orphanet:300576 Orphanet MONDO:0012081 15q11q13 microduplication syndrome oio:hasExactSynonym 15q11q13 duplication syndrome Orphanet:238446 15q11q13 microduplication syndrome confirmed 15q11q13 duplication syndrome Orphanet:238446 Orphanet -MONDO:0012081 15q11q13 microduplication syndrome oio:hasExactSynonym dup(15)(q11q13) Orphanet:238446 15q11q13 microduplication syndrome confirmed dup(15)(q11q13) Orphanet:238446 Orphanet MONDO:0012081 15q11q13 microduplication syndrome oio:hasExactSynonym dup(15)(q11q13) dup(15)(q11q13) Dup(15)(q11q13) Orphanet:238446 15q11q13 microduplication syndrome confirmed dup(15)(q11q13) Orphanet:238446 Orphanet +MONDO:0012081 15q11q13 microduplication syndrome oio:hasExactSynonym dup(15)(q11q13) Orphanet:238446 15q11q13 microduplication syndrome confirmed dup(15)(q11q13) Orphanet:238446 Orphanet MONDO:0012081 15q11q13 microduplication syndrome oio:hasExactSynonym trisomy 15q11q13 trisomy 15q11q13 Trisomy 15q11q13 Orphanet:238446 15q11q13 microduplication syndrome confirmed trisomy 15q11q13 Orphanet:238446 Orphanet MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym AADC deficiency Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency confirmed AADC deficiency Orphanet:35708 Orphanet MONDO:0012084 aromatic L-amino acid decarboxylase deficiency oio:hasExactSynonym aromatic L-amino acid decarboxylase deficiency aromatic L-amino acid decarboxylase deficiency Aromatic L-amino acid decarboxylase deficiency Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency confirmed aromatic L-amino acid decarboxylase deficiency Orphanet:35708 Orphanet @@ -13124,8 +13121,8 @@ MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythem MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3q subtelomere deletion syndrome Orphanet:65286 3q29 microdeletion syndrome confirmed 3q subtelomere deletion syndrome Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3q29 microdeletion syndrome Orphanet:65286 3q29 microdeletion syndrome confirmed 3q29 microdeletion syndrome Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym 3qter deletion Orphanet:65286 3q29 microdeletion syndrome confirmed 3qter deletion Orphanet:65286 Orphanet -MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome confirmed Del(3)(q29) Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Del(3)(q29) del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome confirmed Del(3)(q29) Orphanet:65286 Orphanet +MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym Del(3)(q29) Orphanet:65286 3q29 microdeletion syndrome confirmed Del(3)(q29) Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym monosomy 3q29 monosomy 3q29 Monosomy 3q29 Orphanet:65286 3q29 microdeletion syndrome confirmed monosomy 3q29 Orphanet:65286 Orphanet MONDO:0012269 chromosome 3q29 microdeletion syndrome oio:hasExactSynonym monosomy 3qter monosomy 3qter Monosomy 3qter Orphanet:65286 3q29 microdeletion syndrome confirmed monosomy 3qter Orphanet:65286 Orphanet MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction oio:hasExactSynonym syndactyly type 9 syndactyly type 9 Syndactyly type 9 Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction confirmed syndactyly type 9 Orphanet:157801 Orphanet @@ -13160,8 +13157,8 @@ MONDO:0012330 talo-patello-scaphoid osteolysis oio:hasExactSynonym singh-Willia MONDO:0012334 hereditary spastic paraplegia 29 oio:hasExactSynonym SPG29 Orphanet:101009 Autosomal dominant spastic paraplegia type 29 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG29 Orphanet:101009 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012335 obesity due to pro-opiomelanocortin deficiency oio:hasExactSynonym POMC Deficiency POMC Deficiency POMC deficiency Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency confirmed POMC Deficiency Orphanet:71526 Orphanet MONDO:0012335 obesity due to pro-opiomelanocortin deficiency oio:hasExactSynonym POMC deficiency Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency confirmed POMC deficiency Orphanet:71526 Orphanet -MONDO:0012342 7q11.23 microduplication syndrome oio:hasExactSynonym dup(7)(q11.23) Orphanet:96121 7q11.23 microduplication syndrome confirmed dup(7)(q11.23) Orphanet:96121 Orphanet MONDO:0012342 7q11.23 microduplication syndrome oio:hasExactSynonym dup(7)(q11.23) dup(7)(q11.23) Dup(7)(q11.23) Orphanet:96121 7q11.23 microduplication syndrome confirmed dup(7)(q11.23) Orphanet:96121 Orphanet +MONDO:0012342 7q11.23 microduplication syndrome oio:hasExactSynonym dup(7)(q11.23) Orphanet:96121 7q11.23 microduplication syndrome confirmed dup(7)(q11.23) Orphanet:96121 Orphanet MONDO:0012342 7q11.23 microduplication syndrome oio:hasExactSynonym trisomy 7q11.23 trisomy 7q11.23 Trisomy 7q11.23 Orphanet:96121 7q11.23 microduplication syndrome confirmed trisomy 7q11.23 Orphanet:96121 Orphanet MONDO:0012345 acral peeling skin syndrome oio:hasExactSynonym acral PSS acral PSS Acral PSS Orphanet:263534 Acral peeling skin syndrome confirmed acral PSS Orphanet:263534 Orphanet MONDO:0012345 acral peeling skin syndrome oio:hasExactSynonym localized PSS localized PSS Localized PSS Orphanet:263534 Acral peeling skin syndrome confirmed localized PSS Orphanet:263534 Orphanet @@ -13449,8 +13446,8 @@ MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExact MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym glycogenosis type XII glycogenosis type XII Glycogenosis type XII Orphanet:57 Glycogen storage disease due to aldolase A deficiency confirmed glycogenosis type XII Orphanet:57 Orphanet MONDO:0012747 glycogen storage disease due to aldolase A deficiency oio:hasExactSynonym glycogen storage disease due to aldolase A deficiency glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to aldolase A deficiency Orphanet:57 Glycogen storage disease due to aldolase A deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed glycogen storage disease due to aldolase A deficiency Orphanet:57 Orphanet MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome oio:hasExactSynonym Vuopala disease Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome confirmed Vuopala disease Orphanet:53696 Orphanet -MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) proximal del(16)(p11.2) Proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome confirmed proximal del(16)(p11.2) Orphanet:261197 Orphanet MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome confirmed proximal del(16)(p11.2) Orphanet:261197 Orphanet +MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal del(16)(p11.2) proximal del(16)(p11.2) Proximal del(16)(p11.2) Orphanet:261197 Proximal 16p11.2 microdeletion syndrome confirmed proximal del(16)(p11.2) Orphanet:261197 Orphanet MONDO:0012756 proximal 16p11.2 microdeletion syndrome oio:hasExactSynonym proximal monosomy 16p11.2 proximal monosomy 16p11.2 Proximal monosomy 16p11.2 Orphanet:261197 Proximal 16p11.2 microdeletion syndrome confirmed proximal monosomy 16p11.2 Orphanet:261197 Orphanet MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym 3q29 microduplication syndrome Orphanet:251038 3q29 microduplication syndrome confirmed 3q29 microduplication syndrome Orphanet:251038 Orphanet MONDO:0012761 chromosome 3q29 microduplication syndrome oio:hasExactSynonym trisomy 3q29 trisomy 3q29 Trisomy 3q29 Orphanet:251038 3q29 microduplication syndrome confirmed trisomy 3q29 Orphanet:251038 Orphanet @@ -13460,8 +13457,8 @@ MONDO:0012764 RIDDLE syndrome oio:hasExactSynonym RIDDLE syndrome Orphanet:42 MONDO:0012766 hereditary spastic paraplegia 37 oio:hasExactSynonym autosomal dominant spastic paraplegia type 37 autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 37 Orphanet:171612 Autosomal dominant spastic paraplegia type 37 confirmed autosomal dominant spastic paraplegia type 37 Orphanet:171612 Orphanet MONDO:0012766 hereditary spastic paraplegia 37 oio:hasExactSynonym SPG37 Orphanet:171612 Autosomal dominant spastic paraplegia type 37 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG37 Orphanet:171612 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym 15q13.3 microdeletion syndrome Orphanet:199318 15q13.3 microdeletion syndrome confirmed 15q13.3 microdeletion syndrome Orphanet:199318 Orphanet -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome confirmed Del(15)(q13.3) Orphanet:199318 Orphanet MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Del(15)(q13.3) del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome confirmed Del(15)(q13.3) Orphanet:199318 Orphanet +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym Del(15)(q13.3) Orphanet:199318 15q13.3 microdeletion syndrome confirmed Del(15)(q13.3) Orphanet:199318 Orphanet MONDO:0012774 chromosome 15q13.3 microdeletion syndrome oio:hasExactSynonym monosomy 15q13.3 monosomy 15q13.3 Monosomy 15q13.3 Orphanet:199318 15q13.3 microdeletion syndrome confirmed monosomy 15q13.3 Orphanet:199318 Orphanet MONDO:0012783 RFT1-congenital disorder of glycosylation oio:hasExactSynonym CDG syndrome type In Orphanet:244310 RFT1-CDG confirmed CDG syndrome type In Orphanet:244310 Orphanet MONDO:0012783 RFT1-congenital disorder of glycosylation oio:hasExactSynonym CDG-In Orphanet:244310 RFT1-CDG confirmed CDG-In Orphanet:244310 Orphanet @@ -13527,8 +13524,8 @@ MONDO:0012859 autosomal recessive osteopetrosis 7 oio:hasExactSynonym autosomal MONDO:0012859 autosomal recessive osteopetrosis 7 oio:hasExactSynonym autosomal recessive osteopetrosis type 7 autosomal recessive osteopetrosis type 7 Autosomal recessive osteopetrosis type 7 Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome confirmed autosomal recessive osteopetrosis type 7 Orphanet:178389 Orphanet MONDO:0012859 autosomal recessive osteopetrosis 7 oio:hasExactSynonym osteopetrosis-hypogammaglobulinemia syndrome osteopetrosis-hypogammaglobulinemia syndrome Osteopetrosis-hypogammaglobulinemia syndrome Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome confirmed osteopetrosis-hypogammaglobulinemia syndrome Orphanet:178389 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym 2q32q33 microdeletion syndrome Orphanet:251019 2q32q33 microdeletion syndrome confirmed 2q32q33 microdeletion syndrome Orphanet:251019 Orphanet -MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32) Del(2)(q32) del(2)(q32) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32) Orphanet:251019 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32) Orphanet:251019 Orphanet +MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32) Del(2)(q32) del(2)(q32) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32) Orphanet:251019 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Del(2)(q32q33) del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32q33) Orphanet:251019 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym Del(2)(q32q33) Orphanet:251019 2q32q33 microdeletion syndrome confirmed Del(2)(q32q33) Orphanet:251019 Orphanet MONDO:0012864 chromosome 2q32-q33 deletion syndrome oio:hasExactSynonym monosomy 2q32 monosomy 2q32 Monosomy 2q32 Orphanet:251019 2q32q33 microdeletion syndrome confirmed monosomy 2q32 Orphanet:251019 Orphanet @@ -13569,12 +13566,12 @@ MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym Del(1)(q2 MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym Del(1)(q21) Del(1)(q21) del(1)(q21) Orphanet:250989 1q21.1 microdeletion syndrome confirmed Del(1)(q21) Orphanet:250989 Orphanet MONDO:0012914 chromosome 1q21.1 deletion syndrome oio:hasExactSynonym monosomy 1q21.1 monosomy 1q21.1 Monosomy 1q21.1 Orphanet:250989 1q21.1 microdeletion syndrome confirmed monosomy 1q21.1 Orphanet:250989 Orphanet MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym 1q21.1 microduplication syndrome Orphanet:250994 1q21.1 microduplication syndrome confirmed 1q21.1 microduplication syndrome Orphanet:250994 Orphanet -MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome confirmed dup(1)(q21.1) Orphanet:250994 Orphanet MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) dup(1)(q21.1) Dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome confirmed dup(1)(q21.1) Orphanet:250994 Orphanet +MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym dup(1)(q21.1) Orphanet:250994 1q21.1 microduplication syndrome confirmed dup(1)(q21.1) Orphanet:250994 Orphanet MONDO:0012915 chromosome 1q21.1 duplication syndrome oio:hasExactSynonym trisomy 1q21.1 trisomy 1q21.1 Trisomy 1q21.1 Orphanet:250994 1q21.1 microduplication syndrome confirmed trisomy 1q21.1 Orphanet:250994 Orphanet MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym 2p15p16.1 microdeletion syndrome Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed 2p15p16.1 microdeletion syndrome Orphanet:261349 Orphanet -MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed Del(2)(p15p16.1) Orphanet:261349 Orphanet MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Del(2)(p15p16.1) del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed Del(2)(p15p16.1) Orphanet:261349 Orphanet +MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym Del(2)(p15p16.1) Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed Del(2)(p15p16.1) Orphanet:261349 Orphanet MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome oio:hasExactSynonym monosomy 2p15p16.1 monosomy 2p15p16.1 Monosomy 2p15p16.1 Orphanet:261349 2p15p16.1 microdeletion syndrome confirmed monosomy 2p15p16.1 Orphanet:261349 Orphanet MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym 1q41q42 microdeletion syndrome Orphanet:250999 1q41q42 microdeletion syndrome confirmed 1q41q42 microdeletion syndrome Orphanet:250999 Orphanet MONDO:0012927 chromosome 1q41-q42 deletion syndrome oio:hasExactSynonym Del(1)(q41q42) Del(1)(q41q42) del(1)(q41q42) Orphanet:250999 1q41q42 microdeletion syndrome confirmed Del(1)(q41q42) Orphanet:250999 Orphanet @@ -13753,8 +13750,8 @@ MONDO:0013178 congenital muscular dystrophy due to LMNA mutation oio:hasExactSyn MONDO:0013179 hereditary spastic paraplegia 44 oio:hasExactSynonym SPG44 Orphanet:320401 Autosomal recessive spastic paraplegia type 44 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG44 Orphanet:320401 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym 17p13.3 duplication syndrome Orphanet:217385 17p13.3 microduplication syndrome confirmed 17p13.3 duplication syndrome Orphanet:217385 Orphanet MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym 17p13.3 microduplication syndrome Orphanet:217385 17p13.3 microduplication syndrome confirmed 17p13.3 microduplication syndrome Orphanet:217385 Orphanet -MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome confirmed dup(17)(p13.3) Orphanet:217385 Orphanet MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) dup(17)(p13.3) Dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome confirmed dup(17)(p13.3) Orphanet:217385 Orphanet +MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym dup(17)(p13.3) Orphanet:217385 17p13.3 microduplication syndrome confirmed dup(17)(p13.3) Orphanet:217385 Orphanet MONDO:0013182 chromosome 17p13.3 duplication syndrome oio:hasExactSynonym trisomy 17p13.3 trisomy 17p13.3 Trisomy 17p13.3 Orphanet:217385 17p13.3 microduplication syndrome confirmed trisomy 17p13.3 Orphanet:217385 Orphanet MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym congenital tufting enteropathy congenital tufting enteropathy Congenital tufting enteropathy Orphanet:92050 Congenital tufting enteropathy confirmed congenital tufting enteropathy Orphanet:92050 Orphanet MONDO:0013184 congenital diarrhea 5 with tufting enteropathy oio:hasExactSynonym intestinal epithelial dysplasia intestinal epithelial dysplasia Intestinal epithelial dysplasia Orphanet:92050 Congenital tufting enteropathy confirmed intestinal epithelial dysplasia Orphanet:92050 Orphanet @@ -13782,8 +13779,8 @@ MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency oi MONDO:0013252 Warsaw breakage syndrome oio:hasExactSynonym Warsaw breakage syndrome Orphanet:280558 Warsaw breakage syndrome confirmed Warsaw breakage syndrome Orphanet:280558 Orphanet MONDO:0013252 Warsaw breakage syndrome oio:hasExactSynonym WABS Orphanet:280558 Warsaw breakage syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WABS Orphanet:280558 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym 15q24 microdeletion syndrome Orphanet:94065 15q24 microdeletion syndrome confirmed 15q24 microdeletion syndrome Orphanet:94065 Orphanet -MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym Del(15)(q24) Del(15)(q24) del(15)(q24) Orphanet:94065 15q24 microdeletion syndrome confirmed Del(15)(q24) Orphanet:94065 Orphanet MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym Del(15)(q24) Orphanet:94065 15q24 microdeletion syndrome confirmed Del(15)(q24) Orphanet:94065 Orphanet +MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym Del(15)(q24) Del(15)(q24) del(15)(q24) Orphanet:94065 15q24 microdeletion syndrome confirmed Del(15)(q24) Orphanet:94065 Orphanet MONDO:0013256 chromosome 15q24 deletion syndrome oio:hasExactSynonym monosomy 15q24 monosomy 15q24 Monosomy 15q24 Orphanet:94065 15q24 microdeletion syndrome confirmed monosomy 15q24 Orphanet:94065 Orphanet MONDO:0013267 distal 16p11.2 microdeletion syndrome oio:hasExactSynonym distal 16p11.2 microdeletion syndrome distal 16p11.2 microdeletion syndrome Distal 16p11.2 microdeletion syndrome Orphanet:261222 Distal 16p11.2 microdeletion syndrome confirmed distal 16p11.2 microdeletion syndrome Orphanet:261222 Orphanet MONDO:0013267 distal 16p11.2 microdeletion syndrome oio:hasExactSynonym distal del(16)(p11.2) distal del(16)(p11.2) Distal del(16)(p11.2) Orphanet:261222 Distal 16p11.2 microdeletion syndrome confirmed distal del(16)(p11.2) Orphanet:261222 Orphanet @@ -13831,8 +13828,8 @@ MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactS MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasm associated with FGFR1 rearrangement myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement confirmed myeloid/lymphoid neoplasm associated with FGFR1 rearrangement Orphanet:168953 Orphanet MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement oio:hasExactSynonym stem cell leukemia/lymphoma stem cell leukemia/lymphoma Stem cell leukemia/lymphoma Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement confirmed stem cell leukemia/lymphoma Orphanet:168953 Orphanet MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym 17q21.31 microduplication syndrome Orphanet:217340 17q21.31 microduplication syndrome confirmed 17q21.31 microduplication syndrome Orphanet:217340 Orphanet -MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome confirmed dup(17)(q21.31) Orphanet:217340 Orphanet MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) dup(17)(q21.31) Dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome confirmed dup(17)(q21.31) Orphanet:217340 Orphanet +MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym dup(17)(q21.31) Orphanet:217340 17q21.31 microduplication syndrome confirmed dup(17)(q21.31) Orphanet:217340 Orphanet MONDO:0013298 chromosome 17q21.31 duplication syndrome oio:hasExactSynonym trisomy 17q21.31 trisomy 17q21.31 Trisomy 17q21.31 Orphanet:217340 17q21.31 microduplication syndrome confirmed trisomy 17q21.31 Orphanet:217340 Orphanet MONDO:0013301 aromatase deficiency oio:hasExactSynonym aromatase deficiency aromatase deficiency Aromatase deficiency Orphanet:91 Aromatase deficiency confirmed aromatase deficiency Orphanet:91 Orphanet MONDO:0013301 aromatase deficiency oio:hasExactSynonym congenital estrogen deficiency congenital estrogen deficiency Congenital estrogen deficiency Orphanet:91 Aromatase deficiency confirmed congenital estrogen deficiency Orphanet:91 Orphanet @@ -13850,8 +13847,8 @@ MONDO:0013316 occult macular dystrophy oio:hasExactSynonym occult macular dystr MONDO:0013316 occult macular dystrophy oio:hasExactSynonym OCMD Orphanet:247834 Occult macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OCMD Orphanet:247834 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013316 occult macular dystrophy oio:hasExactSynonym OMD Orphanet:247834 Occult macular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed OMD Orphanet:247834 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym 16p11.2p12.2 microdeletion syndrome Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed 16p11.2p12.2 microdeletion syndrome Orphanet:261211 Orphanet -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Del(16)(p11.2p12.2) del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed Del(16)(p11.2p12.2) Orphanet:261211 Orphanet MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed Del(16)(p11.2p12.2) Orphanet:261211 Orphanet +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym Del(16)(p11.2p12.2) Del(16)(p11.2p12.2) del(16)(p11.2p12.2) Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed Del(16)(p11.2p12.2) Orphanet:261211 Orphanet MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome oio:hasExactSynonym monosomy 16p11.2p12.2 monosomy 16p11.2p12.2 Monosomy 16p11.2p12.2 Orphanet:261211 16p11.2p12.2 microdeletion syndrome confirmed monosomy 16p11.2p12.2 Orphanet:261211 Orphanet MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym CDG syndrome type III CDG syndrome type III CDG syndrome type IIi Orphanet:263487 COG5-CDG confirmed CDG syndrome type III Orphanet:263487 Orphanet MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym CDG-III CDG-III CDG-IIi Orphanet:263487 COG5-CDG confirmed CDG-III Orphanet:263487 Orphanet @@ -13862,8 +13859,8 @@ MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym CDG MONDO:0013325 COG5-congenital disorder of glycosylation oio:hasExactSynonym COG5-CDG Orphanet:263487 COG5-CDG http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COG5-CDG Orphanet:263487 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication oio:hasExactSynonym hereditary clubfoot due to 17q23.1-q23.2 microduplication hereditary clubfoot due to 17q23.1-q23.2 microduplication Hereditary clubfoot due to 17q23.1-q23.2 microduplication Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication confirmed hereditary clubfoot due to 17q23.1-q23.2 microduplication Orphanet:238578 Orphanet MONDO:0013334 cocoon syndrome oio:hasExactSynonym fetal encasement syndrome fetal encasement syndrome Fetal encasement syndrome Orphanet:465824 Fetal encasement syndrome confirmed fetal encasement syndrome Orphanet:465824 Orphanet -MONDO:0013336 chromosome 19p13.13 deletion syndrome oio:hasExactSynonym Del(19)(p13.13) Del(19)(p13.13) del(19)(p13.13) Orphanet:357001 19p13.13 microdeletion syndrome confirmed Del(19)(p13.13) Orphanet:357001 Orphanet MONDO:0013336 chromosome 19p13.13 deletion syndrome oio:hasExactSynonym Del(19)(p13.13) Orphanet:357001 19p13.13 microdeletion syndrome confirmed Del(19)(p13.13) Orphanet:357001 Orphanet +MONDO:0013336 chromosome 19p13.13 deletion syndrome oio:hasExactSynonym Del(19)(p13.13) Del(19)(p13.13) del(19)(p13.13) Orphanet:357001 19p13.13 microdeletion syndrome confirmed Del(19)(p13.13) Orphanet:357001 Orphanet MONDO:0013336 chromosome 19p13.13 deletion syndrome oio:hasExactSynonym monosomy 19p13.13 monosomy 19p13.13 Monosomy 19p13.13 Orphanet:357001 19p13.13 microdeletion syndrome confirmed monosomy 19p13.13 Orphanet:357001 Orphanet MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B oio:hasExactSynonym RI-CMT type B Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B confirmed RI-CMT type B Orphanet:254334 Orphanet MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B oio:hasExactSynonym autosomal recessive intermediate Charcot-Marie-Tooth disease type B autosomal recessive intermediate Charcot-Marie-Tooth disease type B Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B confirmed autosomal recessive intermediate Charcot-Marie-Tooth disease type B Orphanet:254334 Orphanet @@ -13890,8 +13887,8 @@ MONDO:0013355 congenital dyserythropoietic anemia type 4 oio:hasExactSynonym CD MONDO:0013355 congenital dyserythropoietic anemia type 4 oio:hasExactSynonym CDAN4 Orphanet:293825 Congenital dyserythropoietic anemia type IV http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CDAN4 Orphanet:293825 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym overgrowth-macrocephaly-facial dysmorphism syndrome overgrowth-macrocephaly-facial dysmorphism syndrome Overgrowth-macrocephaly-facial dysmorphism syndrome Orphanet:137634 Overgrowth-macrocephaly-facial dysmorphism syndrome confirmed overgrowth-macrocephaly-facial dysmorphism syndrome Orphanet:137634 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym 17q11 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome confirmed 17q11 microdeletion syndrome Orphanet:97685 Orphanet -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome confirmed Del(17)(q11) Orphanet:97685 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Del(17)(q11) del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome confirmed Del(17)(q11) Orphanet:97685 Orphanet +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym Del(17)(q11) Orphanet:97685 17q11 microdeletion syndrome confirmed Del(17)(q11) Orphanet:97685 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym NF1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome confirmed NF1 microdeletion syndrome Orphanet:97685 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym monosomy 17q11 monosomy 17q11 Monosomy 17q11 Orphanet:97685 17q11 microdeletion syndrome confirmed monosomy 17q11 Orphanet:97685 Orphanet MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 17q11 microdeletion syndrome confirmed neurofibromatosis type 1 microdeletion syndrome Orphanet:97685 Orphanet @@ -13914,8 +13911,8 @@ MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q oio:has MONDO:0013391 sterol carrier protein 2 deficiency oio:hasExactSynonym leukoencephalopathy-dystonia-motor neuropathy syndrome leukoencephalopathy-dystonia-motor neuropathy syndrome Leukoencephalopathy-dystonia-motor neuropathy syndrome Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome confirmed leukoencephalopathy-dystonia-motor neuropathy syndrome Orphanet:163684 Orphanet MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 10 autosomal recessive spinocerebellar ataxia type 10 Autosomal recessive spinocerebellar ataxia type 10 Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia confirmed autosomal recessive spinocerebellar ataxia type 10 Orphanet:284289 Orphanet MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 oio:hasExactSynonym SCAR10 Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR10 Orphanet:284289 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome confirmed distal del(7)(q11.23) Orphanet:254351 Orphanet MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) distal del(7)(q11.23) Distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome confirmed distal del(7)(q11.23) Orphanet:254351 Orphanet +MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal del(7)(q11.23) Orphanet:254351 Distal 7q11.23 microdeletion syndrome confirmed distal del(7)(q11.23) Orphanet:254351 Orphanet MONDO:0013393 distal 7q11.23 microdeletion syndrome oio:hasExactSynonym distal monosomy 7q11.23 distal monosomy 7q11.23 Distal monosomy 7q11.23 Orphanet:254351 Distal 7q11.23 microdeletion syndrome confirmed distal monosomy 7q11.23 Orphanet:254351 Orphanet MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome oio:hasExactSynonym porencephaly-microcephaly-bilateral congenital cataract syndrome porencephaly-microcephaly-bilateral congenital cataract syndrome Porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547 Orphanet MONDO:0013396 chromosome 1p32-p31 deletion syndrome oio:hasExactSynonym 1p31p32 microdeletion syndrome Orphanet:401986 1p31p32 microdeletion syndrome confirmed 1p31p32 microdeletion syndrome Orphanet:401986 Orphanet @@ -14141,8 +14138,8 @@ MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 oio:hasExactSyn MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 oio:hasExactSynonym HSAN6 Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HSAN6 Orphanet:314381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency oio:hasExactSynonym meconium ileus due to guanylate cyclase 2C deficiency meconium ileus due to guanylate cyclase 2C deficiency Meconium ileus due to guanylate cyclase 2C deficiency Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency confirmed meconium ileus due to guanylate cyclase 2C deficiency Orphanet:314376 Orphanet MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal 16p11.2 microduplication syndrome proximal 16p11.2 microduplication syndrome Proximal 16p11.2 microduplication syndrome Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal 16p11.2 microduplication syndrome Orphanet:370079 Orphanet -MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal dup(16)(p11.2) Orphanet:370079 Orphanet MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) proximal dup(16)(p11.2) Proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal dup(16)(p11.2) Orphanet:370079 Orphanet +MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal dup(16)(p11.2) Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal dup(16)(p11.2) Orphanet:370079 Orphanet MONDO:0013847 chromosome 16p11.2 duplication syndrome oio:hasExactSynonym proximal trisomy 16p11.2 proximal trisomy 16p11.2 Proximal trisomy 16p11.2 Orphanet:370079 Proximal 16p11.2 microduplication syndrome confirmed proximal trisomy 16p11.2 Orphanet:370079 Orphanet MONDO:0013851 autosomal dominant aplasia and myelodysplasia oio:hasExactSynonym autosomal dominant aplastic anemia and myelodysplasia autosomal dominant aplastic anemia and myelodysplasia Autosomal dominant aplastic anemia and myelodysplasia Orphanet:314399 Autosomal dominant aplasia and myelodysplasia confirmed autosomal dominant aplastic anemia and myelodysplasia Orphanet:314399 Orphanet MONDO:0013858 pontine tegmental cap dysplasia oio:hasExactSynonym pontine tegmental cap dysplasia pontine tegmental cap dysplasia Pontine tegmental cap dysplasia Orphanet:269229 Pontine tegmental cap dysplasia confirmed pontine tegmental cap dysplasia Orphanet:269229 Orphanet @@ -14182,8 +14179,8 @@ MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 oio:hasExactSynonym MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 13 autosomal recessive spinocerebellar ataxia type 13 Autosomal recessive spinocerebellar ataxia type 13 Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency confirmed autosomal recessive spinocerebellar ataxia type 13 Orphanet:324262 Orphanet MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 oio:hasExactSynonym SCAR13 Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAR13 Orphanet:324262 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0013907 bilateral generalized polymicrogyria oio:hasExactSynonym bilateral generalized polymicrogyria bilateral generalized polymicrogyria Bilateral generalized polymicrogyria Orphanet:208447 Bilateral generalized polymicrogyria http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed bilateral generalized polymicrogyria Orphanet:208447 Orphanet -MONDO:0013918 distal tetrasomy 15q oio:hasExactSynonym tetrasomy 15(q25-qter) tetrasomy 15(q25-qter) Tetrasomy 15(q25-qter) Orphanet:314588 Distal triplication 15q syndrome confirmed tetrasomy 15(q25-qter) Orphanet:314588 Orphanet MONDO:0013918 distal tetrasomy 15q oio:hasExactSynonym tetrasomy 15(q25-qter) Orphanet:314588 Distal triplication 15q syndrome confirmed tetrasomy 15(q25-qter) Orphanet:314588 Orphanet +MONDO:0013918 distal tetrasomy 15q oio:hasExactSynonym tetrasomy 15(q25-qter) tetrasomy 15(q25-qter) Tetrasomy 15(q25-qter) Orphanet:314588 Distal triplication 15q syndrome confirmed tetrasomy 15(q25-qter) Orphanet:314588 Orphanet MONDO:0013918 distal tetrasomy 15q oio:hasExactSynonym tetrasomy 15q26 tetrasomy 15q26 Tetrasomy 15q26 Orphanet:314588 Distal triplication 15q syndrome confirmed tetrasomy 15q26 Orphanet:314588 Orphanet MONDO:0013922 Seckel syndrome 7 oio:hasExactSynonym microcephalic primordial dwarfism, Dauber type microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism, Dauber type Orphanet:319675 Microcephalic primordial dwarfism, Dauber type confirmed microcephalic primordial dwarfism, Dauber type Orphanet:319675 Orphanet MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ oio:hasExactSynonym cblJ defects cblJ defects CblJ defects Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ confirmed cblJ defects Orphanet:369955 Orphanet @@ -14364,8 +14361,8 @@ MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteris MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency oio:hasExactSynonym DST-related epidermolysis bullosa simplex Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency confirmed DST-related epidermolysis bullosa simplex Orphanet:412181 Orphanet MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency oio:hasExactSynonym epidermolysis bullosa simplex due to BP230 deficiency epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to BP230 deficiency Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency confirmed epidermolysis bullosa simplex due to BP230 deficiency Orphanet:412181 Orphanet MONDO:0014185 chromosome 3q13.31 deletion syndrome oio:hasExactSynonym 3q13 microdeletion syndrome Orphanet:1621 3q13 microdeletion syndrome confirmed 3q13 microdeletion syndrome Orphanet:1621 Orphanet -MONDO:0014185 chromosome 3q13.31 deletion syndrome oio:hasExactSynonym Del(3)(q13) Del(3)(q13) del(3)(q13) Orphanet:1621 3q13 microdeletion syndrome confirmed Del(3)(q13) Orphanet:1621 Orphanet MONDO:0014185 chromosome 3q13.31 deletion syndrome oio:hasExactSynonym Del(3)(q13) Orphanet:1621 3q13 microdeletion syndrome confirmed Del(3)(q13) Orphanet:1621 Orphanet +MONDO:0014185 chromosome 3q13.31 deletion syndrome oio:hasExactSynonym Del(3)(q13) Del(3)(q13) del(3)(q13) Orphanet:1621 3q13 microdeletion syndrome confirmed Del(3)(q13) Orphanet:1621 Orphanet MONDO:0014185 chromosome 3q13.31 deletion syndrome oio:hasExactSynonym monosomy 3q13 monosomy 3q13 Monosomy 3q13 Orphanet:1621 3q13 microdeletion syndrome confirmed monosomy 3q13 Orphanet:1621 Orphanet MONDO:0014190 combined oxidative phosphorylation defect type 17 oio:hasExactSynonym COXPD17 Orphanet:369913 Combined oxidative phosphorylation defect type 17 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COXPD17 Orphanet:369913 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014195 microcornea-myopic chorioretinal atrophy oio:hasExactSynonym MMCAT syndrome Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome confirmed MMCAT syndrome Orphanet:369970 Orphanet @@ -14433,8 +14430,8 @@ MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynon MONDO:0014290 neurodegeneration with brain iron accumulation 6 oio:hasExactSynonym NBIA6 Orphanet:397725 COASY protein-associated neurodegeneration http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NBIA6 Orphanet:397725 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym 15q11.2 BP1-BP2 microdeletion syndrome Orphanet:261183 15q11.2 microdeletion syndrome confirmed 15q11.2 BP1-BP2 microdeletion syndrome Orphanet:261183 Orphanet MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym 15q11.2 microdeletion syndrome Orphanet:261183 15q11.2 microdeletion syndrome confirmed 15q11.2 microdeletion syndrome Orphanet:261183 Orphanet -MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome confirmed Del(15)(q11.2) Orphanet:261183 Orphanet MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Del(15)(q11.2) del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome confirmed Del(15)(q11.2) Orphanet:261183 Orphanet +MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym Del(15)(q11.2) Orphanet:261183 15q11.2 microdeletion syndrome confirmed Del(15)(q11.2) Orphanet:261183 Orphanet MONDO:0014294 chromosome 15q11.2 deletion syndrome oio:hasExactSynonym monosomy 15q11.2 monosomy 15q11.2 Monosomy 15q11.2 Orphanet:261183 15q11.2 microdeletion syndrome confirmed monosomy 15q11.2 Orphanet:261183 Orphanet MONDO:0014295 hereditary spastic paraplegia 57 oio:hasExactSynonym autosomal recessive spastic paraplegia type 57 autosomal recessive spastic paraplegia type 57 Autosomal recessive spastic paraplegia type 57 Orphanet:431329 Autosomal recessive spastic paraplegia type 57 confirmed autosomal recessive spastic paraplegia type 57 Orphanet:431329 Orphanet MONDO:0014295 hereditary spastic paraplegia 57 oio:hasExactSynonym spastic paraplegia due to partial TFG deficiency spastic paraplegia due to partial TFG deficiency Spastic paraplegia due to partial TFG deficiency Orphanet:431329 Autosomal recessive spastic paraplegia type 57 confirmed spastic paraplegia due to partial TFG deficiency Orphanet:431329 Orphanet @@ -14663,8 +14660,8 @@ MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type oio:hasExactSynonym S MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type oio:hasExactSynonym spondyloepiphyseal dysplasia, Stanescu type spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, Stanescu type Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed spondyloepiphyseal dysplasia, Stanescu type Orphanet:459051 Orphanet MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B oio:hasExactSynonym AR-SPG9B Orphanet:447760 Autosomal recessive spastic paraplegia type 9B http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AR-SPG9B Orphanet:447760 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome oio:hasExactSynonym Kosaki overgrowth syndrome Orphanet:477831 Kosaki overgrowth syndrome confirmed Kosaki overgrowth syndrome Orphanet:477831 Orphanet -MONDO:0014707 14q32 duplication syndrome oio:hasExactSynonym dup(14)q(32) dup(14)q(32) Dup(14)q(32) Orphanet:488280 14q32 duplication syndrome confirmed dup(14)q(32) Orphanet:488280 Orphanet MONDO:0014707 14q32 duplication syndrome oio:hasExactSynonym dup(14)q(32) Orphanet:488280 14q32 duplication syndrome confirmed dup(14)q(32) Orphanet:488280 Orphanet +MONDO:0014707 14q32 duplication syndrome oio:hasExactSynonym dup(14)q(32) dup(14)q(32) Dup(14)q(32) Orphanet:488280 14q32 duplication syndrome confirmed dup(14)q(32) Orphanet:488280 Orphanet MONDO:0014707 14q32 duplication syndrome oio:hasExactSynonym predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication Orphanet:488280 14q32 duplication syndrome confirmed predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication Orphanet:488280 Orphanet MONDO:0014707 14q32 duplication syndrome oio:hasExactSynonym trisomy 14q32 trisomy 14q32 Trisomy 14q32 Orphanet:488280 14q32 duplication syndrome confirmed trisomy 14q32 Orphanet:488280 Orphanet MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W oio:hasExactSynonym autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W confirmed autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation Orphanet:488333 Orphanet @@ -14758,8 +14755,8 @@ MONDO:0014810 pancytopenia due to IKZF1 mutations oio:hasExactSynonym combined MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome oio:hasExactSynonym split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome confirmed split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome Orphanet:488232 Orphanet MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome oio:hasExactSynonym SFMMP Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SFMMP Orphanet:488232 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0014821 complex lethal osteochondrodysplasia oio:hasExactSynonym Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type Orphanet:457378 Complex lethal osteochondrodysplasia confirmed Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type Orphanet:457378 Orphanet -MONDO:0014822 15q14 microdeletion syndrome oio:hasExactSynonym Del(15)(q14) Del(15)(q14) del(15)(q14) Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion confirmed Del(15)(q14) Orphanet:261190 Orphanet MONDO:0014822 15q14 microdeletion syndrome oio:hasExactSynonym Del(15)(q14) Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion confirmed Del(15)(q14) Orphanet:261190 Orphanet +MONDO:0014822 15q14 microdeletion syndrome oio:hasExactSynonym Del(15)(q14) Del(15)(q14) del(15)(q14) Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion confirmed Del(15)(q14) Orphanet:261190 Orphanet MONDO:0014822 15q14 microdeletion syndrome oio:hasExactSynonym monosomy 15q14 monosomy 15q14 Monosomy 15q14 Orphanet:261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion confirmed monosomy 15q14 Orphanet:261190 Orphanet MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 oio:hasExactSynonym TBCK-related intellectual disability syndrome Orphanet:488632 TBCK-related intellectual disability syndrome confirmed TBCK-related intellectual disability syndrome Orphanet:488632 Orphanet MONDO:0014827 autosomal recessive spastic paraplegia type 76 oio:hasExactSynonym SPG76 Orphanet:488594 Autosomal recessive spastic paraplegia type 76 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPG76 Orphanet:488594 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -15070,8 +15067,8 @@ MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym giant cell MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym lipoid dermatoarthritis lipoid dermatoarthritis Lipoid dermatoarthritis Orphanet:139436 Multicentric reticulohistiocytosis confirmed lipoid dermatoarthritis Orphanet:139436 Orphanet MONDO:0015347 multicentric reticulohistiocytosis oio:hasExactSynonym multicentric reticulohistiocytosis multicentric reticulohistiocytosis Multicentric reticulohistiocytosis Orphanet:139436 Multicentric reticulohistiocytosis confirmed multicentric reticulohistiocytosis Orphanet:139436 Orphanet MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym Grisart-Destrée syndrome Orphanet:139474 17q11.2 microduplication syndrome confirmed Grisart-Destrée syndrome Orphanet:139474 Orphanet -MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym dup(17)(q11.2) Orphanet:139474 17q11.2 microduplication syndrome confirmed dup(17)(q11.2) Orphanet:139474 Orphanet MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym dup(17)(q11.2) dup(17)(q11.2) Dup(17)(q11.2) Orphanet:139474 17q11.2 microduplication syndrome confirmed dup(17)(q11.2) Orphanet:139474 Orphanet +MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym dup(17)(q11.2) Orphanet:139474 17q11.2 microduplication syndrome confirmed dup(17)(q11.2) Orphanet:139474 Orphanet MONDO:0015350 17q11.2 microduplication syndrome oio:hasExactSynonym trisomy 17q11.2 trisomy 17q11.2 Trisomy 17q11.2 Orphanet:139474 17q11.2 microduplication syndrome confirmed trisomy 17q11.2 Orphanet:139474 Orphanet MONDO:0015352 distal hereditary motor neuropathy type 2 oio:hasExactSynonym dHMN2 Orphanet:139525 Distal hereditary motor neuropathy type 2 confirmed dHMN2 Orphanet:139525 Orphanet MONDO:0015352 distal hereditary motor neuropathy type 2 oio:hasExactSynonym dSMA2 Orphanet:139525 Distal hereditary motor neuropathy type 2 confirmed dSMA2 Orphanet:139525 Orphanet @@ -15164,8 +15161,8 @@ MONDO:0015430 ring chromosome 1 oio:hasExactSynonym r(1) syndrome Orphanet:14 MONDO:0015436 ring chromosome 20 oio:hasExactSynonym ring chromosome 20 syndrome ring chromosome 20 syndrome Ring chromosome 20 syndrome Orphanet:1444 Ring chromosome 20 syndrome confirmed ring chromosome 20 syndrome Orphanet:1444 Orphanet MONDO:0015438 ring chromosome 22 oio:hasExactSynonym r(22) syndrome Orphanet:1446 Ring chromosome 22 syndrome confirmed r(22) syndrome Orphanet:1446 Orphanet MONDO:0015439 ring chromosome 4 oio:hasExactSynonym r(4) syndrome Orphanet:1447 Ring chromosome 4 syndrome confirmed r(4) syndrome Orphanet:1447 Orphanet -MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome confirmed syndrome r(4) Orphanet:1447 Orphanet MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) syndrome r(4) Syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome confirmed syndrome r(4) Orphanet:1447 Orphanet +MONDO:0015439 ring chromosome 4 oio:hasExactSynonym syndrome r(4) Orphanet:1447 Ring chromosome 4 syndrome confirmed syndrome r(4) Orphanet:1447 Orphanet MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym Ring 8 Orphanet:1450 Ring chromosome 8 syndrome confirmed Ring 8 Orphanet:1450 Orphanet MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym r(8) syndrome Orphanet:1450 Ring chromosome 8 syndrome confirmed r(8) syndrome Orphanet:1450 Orphanet MONDO:0015443 chromosome 8-derived supernumerary ring/marker oio:hasExactSynonym ring chromosome 8 ring chromosome 8 Ring chromosome 8 Orphanet:1450 Ring chromosome 8 syndrome confirmed ring chromosome 8 Orphanet:1450 Orphanet @@ -15259,8 +15256,8 @@ MONDO:0015565 cap polyposis oio:hasExactSynonym Cap inflammatory polyposis Or MONDO:0015565 cap polyposis oio:hasExactSynonym eroded polypoid hyperplasia eroded polypoid hyperplasia Eroded polypoid hyperplasia Orphanet:160148 Cap polyposis confirmed eroded polypoid hyperplasia Orphanet:160148 Orphanet MONDO:0015565 cap polyposis oio:hasExactSynonym inflammatory myoglandular polyps inflammatory myoglandular polyps Inflammatory myoglandular polyps Orphanet:160148 Cap polyposis confirmed inflammatory myoglandular polyps Orphanet:160148 Orphanet MONDO:0015565 cap polyposis oio:hasExactSynonym polypoid prolapsing folds polypoid prolapsing folds Polypoid prolapsing folds Orphanet:160148 Cap polyposis confirmed polypoid prolapsing folds Orphanet:160148 Orphanet -MONDO:0015566 2q24 microdeletion syndrome oio:hasExactSynonym Del(2)(q24) Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion confirmed Del(2)(q24) Orphanet:1617 Orphanet MONDO:0015566 2q24 microdeletion syndrome oio:hasExactSynonym Del(2)(q24) Del(2)(q24) del(2)(q24) Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion confirmed Del(2)(q24) Orphanet:1617 Orphanet +MONDO:0015566 2q24 microdeletion syndrome oio:hasExactSynonym Del(2)(q24) Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion confirmed Del(2)(q24) Orphanet:1617 Orphanet MONDO:0015566 2q24 microdeletion syndrome oio:hasExactSynonym monosomy 2q24 monosomy 2q24 Monosomy 2q24 Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion confirmed monosomy 2q24 Orphanet:1617 Orphanet MONDO:0015568 isolated congenital nasal pyriform aperture stenosis oio:hasExactSynonym isolated apertura pyriformis stenosis isolated apertura pyriformis stenosis Isolated apertura pyriformis stenosis Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis confirmed isolated apertura pyriformis stenosis Orphanet:162516 Orphanet MONDO:0015568 isolated congenital nasal pyriform aperture stenosis oio:hasExactSynonym isolated nasal pyriform aperture hypoplasia isolated nasal pyriform aperture hypoplasia Isolated nasal pyriform aperture hypoplasia Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis confirmed isolated nasal pyriform aperture hypoplasia Orphanet:162516 Orphanet @@ -15301,8 +15298,8 @@ MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym PPP Orphan MONDO:0015600 X-linked intellectual disability, Cilliers type oio:hasExactSynonym X-linked intellectual disability-microcephaly-testicular failure syndrome Orphanet:163971 X-linked intellectual disability, Cilliers type confirmed X-linked intellectual disability-microcephaly-testicular failure syndrome Orphanet:163971 Orphanet MONDO:0015605 distal monosomy 9p oio:hasExactSynonym monosomy 9pter monosomy 9pter Monosomy 9pter Orphanet:1642 Distal deletion 9p syndrome confirmed monosomy 9pter Orphanet:1642 Orphanet MONDO:0015605 distal monosomy 9p oio:hasExactSynonym telomeric deletion 9p telomeric deletion 9p Telomeric deletion 9p Orphanet:1642 Distal deletion 9p syndrome confirmed telomeric deletion 9p Orphanet:1642 Orphanet -MONDO:0015606 Xp22.3 microdeletion syndrome oio:hasExactSynonym Del(X)(p23) Orphanet:1643 Xp22.3 microdeletion syndrome confirmed Del(X)(p23) Orphanet:1643 Orphanet MONDO:0015606 Xp22.3 microdeletion syndrome oio:hasExactSynonym Del(X)(p23) Del(X)(p23) del(x)(p23) Orphanet:1643 Xp22.3 microdeletion syndrome confirmed Del(X)(p23) Orphanet:1643 Orphanet +MONDO:0015606 Xp22.3 microdeletion syndrome oio:hasExactSynonym Del(X)(p23) Orphanet:1643 Xp22.3 microdeletion syndrome confirmed Del(X)(p23) Orphanet:1643 Orphanet MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation oio:hasExactSynonym AML and myelodysplastic syndromes related to radiation Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation confirmed AML and myelodysplastic syndromes related to radiation Orphanet:164726 Orphanet MONDO:0015609 advanced sleep phase syndrome oio:hasExactSynonym familial advanced sleep-phase syndrome familial advanced sleep-phase syndrome Familial advanced sleep-phase syndrome Orphanet:164736 Familial advanced sleep-phase syndrome confirmed familial advanced sleep-phase syndrome Orphanet:164736 Orphanet MONDO:0015609 advanced sleep phase syndrome oio:hasExactSynonym FASPS Orphanet:164736 Familial advanced sleep-phase syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FASPS Orphanet:164736 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -15919,8 +15916,8 @@ MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q23.1) D MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q23.1 monosomy 2q23.1 Monosomy 2q23.1 Orphanet:228402 2q23.1 microdeletion syndrome confirmed monosomy 2q23.1 Orphanet:228402 Orphanet MONDO:0016459 2q23.1 microdeletion syndrome oio:hasExactSynonym pseudo-Angelman syndrome pseudo-Angelman syndrome Pseudo-Angelman syndrome Orphanet:228402 2q23.1 microdeletion syndrome confirmed pseudo-Angelman syndrome Orphanet:228402 Orphanet MONDO:0016460 polyvalvular heart disease syndrome oio:hasExactSynonym PHD syndrome Orphanet:228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome confirmed PHD syndrome Orphanet:228410 Orphanet -MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome confirmed dup(5)(q35) Orphanet:228415 Orphanet MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) dup(5)(q35) Dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome confirmed dup(5)(q35) Orphanet:228415 Orphanet +MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym dup(5)(q35) Orphanet:228415 5q35 microduplication syndrome confirmed dup(5)(q35) Orphanet:228415 Orphanet MONDO:0016461 5q35 microduplication syndrome oio:hasExactSynonym trisomy 5q35 trisomy 5q35 Trisomy 5q35 Orphanet:228415 5q35 microduplication syndrome confirmed trisomy 5q35 Orphanet:228415 Orphanet MONDO:0016462 isolated agammaglobulinemia oio:hasExactSynonym isolated hypogammaglobulinemia isolated hypogammaglobulinemia Isolated hypogammaglobulinemia Orphanet:229717 Isolated agammaglobulinemia confirmed isolated hypogammaglobulinemia Orphanet:229717 Orphanet MONDO:0016463 syndromic agammaglobulinemia oio:hasExactSynonym syndromic agammaglobulinemia syndromic agammaglobulinemia Syndromic agammaglobulinemia Orphanet:229720 Syndromic agammaglobulinemia confirmed syndromic agammaglobulinemia Orphanet:229720 Orphanet @@ -16132,26 +16129,26 @@ MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym micro syndrome micro s MONDO:0016649 Warburg micro syndrome oio:hasExactSynonym WARBM Orphanet:2510 Micro syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WARBM Orphanet:2510 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016650 paternal uniparental disomy of chromosome 1 oio:hasExactSynonym UPD(1)pat Orphanet:251004 Paternal uniparental disomy of chromosome 1 syndrome confirmed UPD(1)pat Orphanet:251004 Orphanet MONDO:0016651 maternal uniparental disomy of chromosome 1 oio:hasExactSynonym UPD(1)mat Orphanet:251009 Maternal uniparental disomy of chromosome 1 syndrome confirmed UPD(1)mat Orphanet:251009 Orphanet -MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Del(2)(q31.1) del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome confirmed Del(2)(q31.1) Orphanet:251014 Orphanet MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome confirmed Del(2)(q31.1) Orphanet:251014 Orphanet +MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q31.1) Del(2)(q31.1) del(2)(q31.1) Orphanet:251014 2q31.1 microdeletion syndrome confirmed Del(2)(q31.1) Orphanet:251014 Orphanet MONDO:0016652 2q31.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q31.1 monosomy 2q31.1 Monosomy 2q31.1 Orphanet:251014 2q31.1 microdeletion syndrome confirmed monosomy 2q31.1 Orphanet:251014 Orphanet -MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement confirmed Del(2)(q33.1) Orphanet:251028 Orphanet MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Del(2)(q33.1) del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement confirmed Del(2)(q33.1) Orphanet:251028 Orphanet +MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym Del(2)(q33.1) Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement confirmed Del(2)(q33.1) Orphanet:251028 Orphanet MONDO:0016653 2q33.1 microdeletion syndrome oio:hasExactSynonym monosomy 2q33.1 monosomy 2q33.1 Monosomy 2q33.1 Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement confirmed monosomy 2q33.1 Orphanet:251028 Orphanet -MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome confirmed Del(6)(p22) Orphanet:251046 Orphanet MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Del(6)(p22) del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome confirmed Del(6)(p22) Orphanet:251046 Orphanet +MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym Del(6)(p22) Orphanet:251046 6p22 microdeletion syndrome confirmed Del(6)(p22) Orphanet:251046 Orphanet MONDO:0016655 6p22 microdeletion syndrome oio:hasExactSynonym monosomy 6p22 monosomy 6p22 Monosomy 6p22 Orphanet:251046 6p22 microdeletion syndrome confirmed monosomy 6p22 Orphanet:251046 Orphanet MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Del(7)(q31) del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome confirmed Del(7)(q31) Orphanet:251061 Orphanet MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym Del(7)(q31) Orphanet:251061 7q31 microdeletion syndrome confirmed Del(7)(q31) Orphanet:251061 Orphanet MONDO:0016656 7q31 microdeletion syndrome oio:hasExactSynonym monosomy 7q31 monosomy 7q31 Monosomy 7q31 Orphanet:251061 7q31 microdeletion syndrome confirmed monosomy 7q31 Orphanet:251061 Orphanet -MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym Del(8)(p11.2) Orphanet:251066 8p11.2 deletion syndrome confirmed Del(8)(p11.2) Orphanet:251066 Orphanet MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym Del(8)(p11.2) Del(8)(p11.2) del(8)(p11.2) Orphanet:251066 8p11.2 deletion syndrome confirmed Del(8)(p11.2) Orphanet:251066 Orphanet +MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym Del(8)(p11.2) Orphanet:251066 8p11.2 deletion syndrome confirmed Del(8)(p11.2) Orphanet:251066 Orphanet MONDO:0016657 8p11.2 deletion syndrome oio:hasExactSynonym monosomy 8p11.2 monosomy 8p11.2 Monosomy 8p11.2 Orphanet:251066 8p11.2 deletion syndrome confirmed monosomy 8p11.2 Orphanet:251066 Orphanet -MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome confirmed Del(8)(p23.1) Orphanet:251071 Orphanet MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Del(8)(p23.1) del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome confirmed Del(8)(p23.1) Orphanet:251071 Orphanet +MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym Del(8)(p23.1) Orphanet:251071 8p23.1 microdeletion syndrome confirmed Del(8)(p23.1) Orphanet:251071 Orphanet MONDO:0016658 8p23.1 microdeletion syndrome oio:hasExactSynonym monosomy 8p23.1 monosomy 8p23.1 Monosomy 8p23.1 Orphanet:251071 8p23.1 microdeletion syndrome confirmed monosomy 8p23.1 Orphanet:251071 Orphanet -MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym dup(8)(p23.1p23.1) Orphanet:251076 8p23.1 duplication syndrome confirmed dup(8)(p23.1p23.1) Orphanet:251076 Orphanet MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym dup(8)(p23.1p23.1) dup(8)(p23.1p23.1) Dup(8)(p23.1p23.1) Orphanet:251076 8p23.1 duplication syndrome confirmed dup(8)(p23.1p23.1) Orphanet:251076 Orphanet +MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym dup(8)(p23.1p23.1) Orphanet:251076 8p23.1 duplication syndrome confirmed dup(8)(p23.1p23.1) Orphanet:251076 Orphanet MONDO:0016659 8p23.1 duplication syndrome oio:hasExactSynonym trisomy 8p23.1 trisomy 8p23.1 Trisomy 8p23.1 Orphanet:251076 8p23.1 duplication syndrome confirmed trisomy 8p23.1 Orphanet:251076 Orphanet MONDO:0016660 autosomal recessive primary microcephaly oio:hasExactSynonym microcephalia vera microcephalia vera Microcephalia vera Orphanet:2512 Autosomal recessive primary microcephaly confirmed microcephalia vera Orphanet:2512 Orphanet MONDO:0016660 autosomal recessive primary microcephaly oio:hasExactSynonym microcephaly vera microcephaly vera Microcephaly vera Orphanet:2512 Autosomal recessive primary microcephaly confirmed microcephaly vera Orphanet:2512 Orphanet @@ -16260,8 +16257,8 @@ MONDO:0016778 iatrogenic botulism oio:hasExactSynonym inadvertent botulism inad MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect oio:hasExactSynonym Kagami-Ogata syndrome Orphanet:254519 Kagami-Ogata syndrome confirmed Kagami-Ogata syndrome Orphanet:254519 Orphanet MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion confirmed paternal del(14)(q32.2) Orphanet:254525 Orphanet MONDO:0016780 paternal 14q32.2 microdeletion syndrome oio:hasExactSynonym paternal del(14)(q32.2) paternal del(14)(q32.2) Paternal del(14)(q32.2) Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion confirmed paternal del(14)(q32.2) Orphanet:254525 Orphanet -MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) maternal del(14)(q32.2) Maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion confirmed maternal del(14)(q32.2) Orphanet:254528 Orphanet MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion confirmed maternal del(14)(q32.2) Orphanet:254528 Orphanet +MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal del(14)(q32.2) maternal del(14)(q32.2) Maternal del(14)(q32.2) Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion confirmed maternal del(14)(q32.2) Orphanet:254528 Orphanet MONDO:0016781 maternal 14q32.2 microdeletion syndrome oio:hasExactSynonym maternal monosomy 14q32.2 maternal monosomy 14q32.2 Maternal monosomy 14q32.2 Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion confirmed maternal monosomy 14q32.2 Orphanet:254528 Orphanet MONDO:0016785 complete hydatidiform mole oio:hasExactSynonym complete molar pregnancy complete molar pregnancy Complete molar pregnancy Orphanet:254688 Complete hydatidiform mole confirmed complete molar pregnancy Orphanet:254688 Orphanet MONDO:0016786 partial hydatidiform mole oio:hasExactSynonym incomplete hydatidiform mole incomplete hydatidiform mole Incomplete hydatidiform mole Orphanet:254693 Partial hydatidiform mole confirmed incomplete hydatidiform mole Orphanet:254693 Orphanet @@ -16299,26 +16296,26 @@ MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym Emery-Dreif MONDO:0016830 Emery-Dreifuss muscular dystrophy oio:hasExactSynonym EDMD Orphanet:261 Emery-Dreifuss muscular dystrophy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EDMD Orphanet:261 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016831 linear verrucous nevus syndrome oio:hasExactSynonym linear hamartoma syndrome linear hamartoma syndrome Linear hamartoma syndrome Orphanet:2611 Linear verrucous nevus syndrome confirmed linear hamartoma syndrome Orphanet:2611 Orphanet MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym Dup7q11.23D Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed Dup7q11.23D Orphanet:261102 Orphanet -MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed distal dup(7)(q11.23) Orphanet:261102 Orphanet MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) distal dup(7)(q11.23) Distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed distal dup(7)(q11.23) Orphanet:261102 Orphanet +MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal dup(7)(q11.23) Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed distal dup(7)(q11.23) Orphanet:261102 Orphanet MONDO:0016832 distal 7q11.23 microduplication syndrome oio:hasExactSynonym distal trisomy 7q11.23 distal trisomy 7q11.23 Distal trisomy 7q11.23 Orphanet:261102 Distal 7q11.23 microduplication syndrome confirmed distal trisomy 7q11.23 Orphanet:261102 Orphanet -MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym Del(14)(q12) Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion confirmed Del(14)(q12) Orphanet:261144 Orphanet MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym Del(14)(q12) Del(14)(q12) del(14)(q12) Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion confirmed Del(14)(q12) Orphanet:261144 Orphanet +MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym Del(14)(q12) Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion confirmed Del(14)(q12) Orphanet:261144 Orphanet MONDO:0016833 14q12 microdeletion syndrome oio:hasExactSynonym monosomy 14q12 monosomy 14q12 Monosomy 14q12 Orphanet:261144 FOXG1 syndrome due to 14q12 microdeletion confirmed monosomy 14q12 Orphanet:261144 Orphanet MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym dup(16)(p11.2p12.2) dup(16)(p11.2p12.2) Dup(16)(p11.2p12.2) Orphanet:261204 16p11.2p12.2 microduplication syndrome confirmed dup(16)(p11.2p12.2) Orphanet:261204 Orphanet MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym dup(16)(p11.2p12.2) Orphanet:261204 16p11.2p12.2 microduplication syndrome confirmed dup(16)(p11.2p12.2) Orphanet:261204 Orphanet MONDO:0016834 16p11.2p12.2 microduplication syndrome oio:hasExactSynonym trisomy 16p11.2p12.2 trisomy 16p11.2p12.2 Trisomy 16p11.2p12.2 Orphanet:261204 16p11.2p12.2 microduplication syndrome confirmed trisomy 16p11.2p12.2 Orphanet:261204 Orphanet -MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome confirmed dup(14)(q11.2) Orphanet:261229 Orphanet MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) dup(14)(q11.2) Dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome confirmed dup(14)(q11.2) Orphanet:261229 Orphanet +MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym dup(14)(q11.2) Orphanet:261229 14q11.2 microduplication syndrome confirmed dup(14)(q11.2) Orphanet:261229 Orphanet MONDO:0016835 14q11.2 microduplication syndrome oio:hasExactSynonym trisomy 14q11.2 trisomy 14q11.2 Trisomy 14q11.2 Orphanet:261229 14q11.2 microduplication syndrome confirmed trisomy 14q11.2 Orphanet:261229 Orphanet -MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome confirmed Del(16)(p13.11) Orphanet:261236 Orphanet MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Del(16)(p13.11) del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome confirmed Del(16)(p13.11) Orphanet:261236 Orphanet +MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym Del(16)(p13.11) Orphanet:261236 16p13.11 microdeletion syndrome confirmed Del(16)(p13.11) Orphanet:261236 Orphanet MONDO:0016836 16p13.11 microdeletion syndrome oio:hasExactSynonym monosomy 16p13.11 monosomy 16p13.11 Monosomy 16p13.11 Orphanet:261236 16p13.11 microdeletion syndrome confirmed monosomy 16p13.11 Orphanet:261236 Orphanet -MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym dup(16)(p13.11) Orphanet:261243 16p13.11 microduplication syndrome confirmed dup(16)(p13.11) Orphanet:261243 Orphanet MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym dup(16)(p13.11) dup(16)(p13.11) Dup(16)(p13.11) Orphanet:261243 16p13.11 microduplication syndrome confirmed dup(16)(p13.11) Orphanet:261243 Orphanet +MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym dup(16)(p13.11) Orphanet:261243 16p13.11 microduplication syndrome confirmed dup(16)(p13.11) Orphanet:261243 Orphanet MONDO:0016837 16p13.11 microduplication syndrome oio:hasExactSynonym trisomy 16p13.11 trisomy 16p13.11 Trisomy 16p13.11 Orphanet:261243 16p13.11 microduplication syndrome confirmed trisomy 16p13.11 Orphanet:261243 Orphanet -MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Del(16)(q24.3) del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome confirmed Del(16)(q24.3) Orphanet:261250 Orphanet MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome confirmed Del(16)(q24.3) Orphanet:261250 Orphanet +MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.3) Del(16)(q24.3) del(16)(q24.3) Orphanet:261250 16q24.3 microdeletion syndrome confirmed Del(16)(q24.3) Orphanet:261250 Orphanet MONDO:0016838 16q24.3 microdeletion syndrome oio:hasExactSynonym monosomy 16q24.3 monosomy 16q24.3 Monosomy 16q24.3 Orphanet:261250 16q24.3 microdeletion syndrome confirmed monosomy 16q24.3 Orphanet:261250 Orphanet MONDO:0016839 distal 17p13.3 microdeletion syndrome oio:hasExactSynonym distal monosomy 17p13.3 distal monosomy 17p13.3 Distal monosomy 17p13.3 Orphanet:261257 Distal 17p13.3 microdeletion syndrome confirmed distal monosomy 17p13.3 Orphanet:261257 Orphanet MONDO:0016840 trisomy 17p oio:hasExactSynonym dup(17p) Orphanet:261290 Trisomy 17p syndrome confirmed dup(17p) Orphanet:261290 Orphanet @@ -16329,8 +16326,8 @@ MONDO:0016841 20p12.3 microdeletion syndrome oio:hasExactSynonym monosomy 20p12 MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome oio:hasExactSynonym paternal del(20)(q13.2q13.3) Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome confirmed paternal del(20)(q13.2q13.3) Orphanet:261304 Orphanet MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome oio:hasExactSynonym paternal del(20)(q13.2q13.3) paternal del(20)(q13.2q13.3) Paternal del(20)(q13.2q13.3) Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome confirmed paternal del(20)(q13.2q13.3) Orphanet:261304 Orphanet MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome oio:hasExactSynonym paternal monosomy 20q13.2q13.3 paternal monosomy 20q13.2q13.3 Paternal monosomy 20q13.2q13.3 Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome confirmed paternal monosomy 20q13.2q13.3 Orphanet:261304 Orphanet -MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym Del(20)(q13.33) Del(20)(q13.33) del(20)(q13.33) Orphanet:261311 20q13.33 microdeletion syndrome confirmed Del(20)(q13.33) Orphanet:261311 Orphanet MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym Del(20)(q13.33) Orphanet:261311 20q13.33 microdeletion syndrome confirmed Del(20)(q13.33) Orphanet:261311 Orphanet +MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym Del(20)(q13.33) Del(20)(q13.33) del(20)(q13.33) Orphanet:261311 20q13.33 microdeletion syndrome confirmed Del(20)(q13.33) Orphanet:261311 Orphanet MONDO:0016843 20q13.33 microdeletion syndrome oio:hasExactSynonym monosomy 20q13.33 monosomy 20q13.33 Monosomy 20q13.33 Orphanet:261311 20q13.33 microdeletion syndrome confirmed monosomy 20q13.33 Orphanet:261311 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym Duplication of 20p Orphanet:261318 Trisomy 20p syndrome confirmed Duplication of 20p Orphanet:261318 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym dup(20p) dup(20p) Dup(20p) Orphanet:261318 Trisomy 20p syndrome confirmed dup(20p) Orphanet:261318 Orphanet @@ -16339,25 +16336,25 @@ MONDO:0016844 trisomy 20p oio:hasExactSynonym partial duplication of chromosome MONDO:0016844 trisomy 20p oio:hasExactSynonym partial duplication of the short arm of chromosome 20 partial duplication of the short arm of chromosome 20 Partial duplication of the short arm of chromosome 20 Orphanet:261318 Trisomy 20p syndrome confirmed partial duplication of the short arm of chromosome 20 Orphanet:261318 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym partial trisomy of chromosome 20p partial trisomy of chromosome 20p Partial trisomy of chromosome 20p Orphanet:261318 Trisomy 20p syndrome confirmed partial trisomy of chromosome 20p Orphanet:261318 Orphanet MONDO:0016844 trisomy 20p oio:hasExactSynonym partial trisomy of the short arm of chromosome 20 partial trisomy of the short arm of chromosome 20 Partial trisomy of the short arm of chromosome 20 Orphanet:261318 Trisomy 20p syndrome confirmed partial trisomy of the short arm of chromosome 20 Orphanet:261318 Orphanet -MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome confirmed Del(21)(q22.11q22.12) Orphanet:261323 Orphanet MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Del(21)(q22.11q22.12) del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome confirmed Del(21)(q22.11q22.12) Orphanet:261323 Orphanet +MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym Del(21)(q22.11q22.12) Orphanet:261323 21q22.11q22.12 microdeletion syndrome confirmed Del(21)(q22.11q22.12) Orphanet:261323 Orphanet MONDO:0016845 21q22.11q22.12 microdeletion syndrome oio:hasExactSynonym monosomy 21q22.11q22.12 monosomy 21q22.11q22.12 Monosomy 21q22.11q22.12 Orphanet:261323 21q22.11q22.12 microdeletion syndrome confirmed monosomy 21q22.11q22.12 Orphanet:261323 Orphanet -MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome confirmed distal dup(22)(q11.2) Orphanet:261337 Orphanet MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) distal dup(22)(q11.2) Distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome confirmed distal dup(22)(q11.2) Orphanet:261337 Orphanet +MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal dup(22)(q11.2) Orphanet:261337 Distal 22q11.2 microduplication syndrome confirmed distal dup(22)(q11.2) Orphanet:261337 Orphanet MONDO:0016846 distal 22q11.2 microduplication syndrome oio:hasExactSynonym distal trisomy 22q11.2 distal trisomy 22q11.2 Distal trisomy 22q11.2 Orphanet:261337 Distal 22q11.2 microduplication syndrome confirmed distal trisomy 22q11.2 Orphanet:261337 Orphanet MONDO:0016847 trisomy 1q oio:hasExactSynonym Duplication 1q Orphanet:261344 Trisomy 1q syndrome confirmed Duplication 1q Orphanet:261344 Orphanet MONDO:0016848 juvenile temporal arteritis oio:hasExactSynonym non-giant cell granulomatous temporal arteritis with eosinophilia non-giant cell granulomatous temporal arteritis with eosinophilia Non-giant cell granulomatous temporal arteritis with eosinophilia Orphanet:26137 Juvenile temporal arteritis confirmed non-giant cell granulomatous temporal arteritis with eosinophilia Orphanet:26137 Orphanet MONDO:0016848 juvenile temporal arteritis oio:hasExactSynonym JTA Orphanet:26137 Juvenile temporal arteritis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JTA Orphanet:26137 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 oio:hasExactSynonym atypical Norrie disease due to Xp11.3 microdeletion atypical Norrie disease due to Xp11.3 microdeletion Atypical Norrie disease due to Xp11.3 microdeletion Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion confirmed atypical Norrie disease due to Xp11.3 microdeletion Orphanet:261501 Orphanet -MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 oio:hasExactSynonym atypical Norrie disease due to del(X)(p11.3) atypical Norrie disease due to del(X)(p11.3) atypical norrie disease due to del(x)(p11.3) Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion confirmed atypical Norrie disease due to del(X)(p11.3) Orphanet:261501 Orphanet MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 oio:hasExactSynonym atypical Norrie disease due to del(X)(p11.3) atypical Norrie disease due to del(X)(p11.3) Atypical Norrie disease due to del(X)(p11.3) Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion confirmed atypical Norrie disease due to del(X)(p11.3) Orphanet:261501 Orphanet +MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 oio:hasExactSynonym atypical Norrie disease due to del(X)(p11.3) atypical Norrie disease due to del(X)(p11.3) atypical norrie disease due to del(x)(p11.3) Orphanet:261501 Atypical Norrie disease due to Xp11.3 microdeletion confirmed atypical Norrie disease due to del(X)(p11.3) Orphanet:261501 Orphanet MONDO:0016851 maternal uniparental disomy of chromosome X oio:hasExactSynonym UPD(X)mat Orphanet:261519 Maternal uniparental disomy of chromosome X syndrome confirmed UPD(X)mat Orphanet:261519 Orphanet MONDO:0016852 paternal uniparental disomy of chromosome X oio:hasExactSynonym UPD(X)pat Orphanet:261524 Paternal uniparental disomy of chromosome X syndrome confirmed UPD(X)pat Orphanet:261524 Orphanet MONDO:0016853 ring chromosome Y oio:hasExactSynonym r(Y) Orphanet:261529 Ring chromosome Y syndrome confirmed r(Y) Orphanet:261529 Orphanet MONDO:0016853 ring chromosome Y oio:hasExactSynonym r(Y) r(Y) r(y) Orphanet:261529 Ring chromosome Y syndrome confirmed r(Y) Orphanet:261529 Orphanet MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to 2q22 microdeletion Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Hirschsprung disease and intellectual disability due to 2q22 microdeletion Orphanet:261537 Orphanet -MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to del(2)(q22) Hirschsprung disease and intellectual disability due to del(2)(q22) hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Orphanet MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Orphanet +MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to del(2)(q22) Hirschsprung disease and intellectual disability due to del(2)(q22) hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537 Orphanet MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Hirschsprung disease and intellectual disability due to monosomy 2q22 Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Hirschsprung disease and intellectual disability due to monosomy 2q22 Orphanet:261537 Orphanet MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to 2q22 microdeletion Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Mowat-Wilson syndrome due to 2q22 microdeletion Orphanet:261537 Orphanet MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to del(2)q(22) mowat-wilson syndrome due to del(2)q(22) Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 confirmed Mowat-Wilson syndrome due to del(2)q(22) Orphanet:261537 Orphanet @@ -16365,12 +16362,12 @@ MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 oio:hasExactSynonym Mo MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation oio:hasExactSynonym Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation confirmed Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Orphanet:261552 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym FAP due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed FAP due to monosomy 5q22.2 Orphanet:261584 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym colorectal adenomatous polyposis due to monosomy 5q22.2 colorectal adenomatous polyposis due to monosomy 5q22.2 Colorectal adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed colorectal adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Orphanet -MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Orphanet +MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial adenomatous polyposis due to del(5)(q22.2) Orphanet:261584 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial adenomatous polyposis due to monosomy 5q22.2 familial adenomatous polyposis due to monosomy 5q22.2 Familial adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584 Orphanet MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion oio:hasExactSynonym familial polyposis coli due to monosomy 5q22.2 familial polyposis coli due to monosomy 5q22.2 Familial polyposis coli due to monosomy 5q22.2 Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion confirmed familial polyposis coli due to monosomy 5q22.2 Orphanet:261584 Orphanet -MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille syndrome due to del(20)(p12) Orphanet:261600 Orphanet MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Alagille syndrome due to del(20)(p12) alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille syndrome due to del(20)(p12) Orphanet:261600 Orphanet +MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to del(20)(p12) Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille syndrome due to del(20)(p12) Orphanet:261600 Orphanet MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille syndrome due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille syndrome due to monosomy 20p12 Orphanet:261600 Orphanet MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Alagille-Watson syndrome due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Alagille-Watson syndrome due to monosomy 20p12 Orphanet:261600 Orphanet MONDO:0016861 Alagille syndrome due to 20p12 microdeletion oio:hasExactSynonym Arteriohepatic dysplasia due to monosomy 20p12 Orphanet:261600 Alagille syndrome due to 20p12 microdeletion confirmed Arteriohepatic dysplasia due to monosomy 20p12 Orphanet:261600 Orphanet @@ -16617,8 +16614,10 @@ MONDO:0017007 partial deletion of the long arm of chromosome X oio:hasExactSynon MONDO:0017007 partial deletion of the long arm of chromosome X oio:hasExactSynonym partial monosomy of the long arm of chromosome X partial monosomy of the long arm of chromosome X Partial monosomy of the long arm of chromosome X Orphanet:263756 Partial deletion of the long arm of chromosome X syndrome confirmed partial monosomy of the long arm of chromosome X Orphanet:263756 Orphanet MONDO:0017008 partial duplication of chromosome X oio:hasExactSynonym partial trisomy of chromosome X partial trisomy of chromosome X Partial trisomy of chromosome X Orphanet:263768 Partial duplication of chromosome X syndrome confirmed partial trisomy of chromosome X Orphanet:263768 Orphanet MONDO:0017009 partial duplication of the short arm of chromosome X oio:hasExactSynonym partial duplication of chromosome Xp partial duplication of chromosome Xp Partial duplication of chromosome Xp Orphanet:263775 Partial duplication of the short arm of chromosome X syndrome confirmed partial duplication of chromosome Xp Orphanet:263775 Orphanet +MONDO:0017009 partial duplication of the short arm of chromosome X oio:hasExactSynonym partial trisomy of chromosome Xp partial trisomy of chromosome Xp Partial trisomy of chromosome Xp Orphanet:263775 Partial duplication of the short arm of chromosome X syndrome confirmed partial trisomy of chromosome Xp Orphanet:263775 Orphanet MONDO:0017009 partial duplication of the short arm of chromosome X oio:hasExactSynonym partial trisomy of the short arm of chromosome X partial trisomy of the short arm of chromosome X Partial trisomy of the short arm of chromosome X Orphanet:263775 Partial duplication of the short arm of chromosome X syndrome confirmed partial trisomy of the short arm of chromosome X Orphanet:263775 Orphanet MONDO:0017010 partial duplication of the long arm of chromosome X oio:hasExactSynonym partial duplication of chromosome Xq partial duplication of chromosome Xq Partial duplication of chromosome Xq Orphanet:263783 Partial duplication of the long arm of chromosome X syndrome confirmed partial duplication of chromosome Xq Orphanet:263783 Orphanet +MONDO:0017010 partial duplication of the long arm of chromosome X oio:hasExactSynonym partial trisomy of chromosome Xq partial trisomy of chromosome Xq Partial trisomy of chromosome Xq Orphanet:263783 Partial duplication of the long arm of chromosome X syndrome confirmed partial trisomy of chromosome Xq Orphanet:263783 Orphanet MONDO:0017010 partial duplication of the long arm of chromosome X oio:hasExactSynonym partial trisomy of the long arm of chromosome X partial trisomy of the long arm of chromosome X Partial trisomy of the long arm of chromosome X Orphanet:263783 Partial duplication of the long arm of chromosome X syndrome confirmed partial trisomy of the long arm of chromosome X Orphanet:263783 Orphanet MONDO:0017012 partial duplication of the short arm of chromosome 1 oio:hasExactSynonym partial duplication of chromosome 1p partial duplication of chromosome 1p Partial duplication of chromosome 1p Orphanet:264431 Partial duplication of the short arm of chromosome 1 syndrome confirmed partial duplication of chromosome 1p Orphanet:264431 Orphanet MONDO:0017012 partial duplication of the short arm of chromosome 1 oio:hasExactSynonym partial trisomy of chromosome 1p partial trisomy of chromosome 1p Partial trisomy of chromosome 1p Orphanet:264431 Partial duplication of the short arm of chromosome 1 syndrome confirmed partial trisomy of chromosome 1p Orphanet:264431 Orphanet @@ -16723,8 +16722,8 @@ MONDO:0017176 Machado-Joseph disease type 3 oio:hasExactSynonym spinocerebellar MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome oio:hasExactSynonym HHML Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HHML Orphanet:276280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym König disease Orphanet:2764 Osteochondritis dissecans confirmed König disease Orphanet:2764 Orphanet MONDO:0017178 osteochondritis dissecans oio:hasExactSynonym osteochondritis dissecans osteochondritis dissecans Osteochondritis dissecans Orphanet:2764 Osteochondritis dissecans confirmed osteochondritis dissecans Orphanet:2764 Orphanet -MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome confirmed dup(10)(q22.3q23.3) Orphanet:276422 Orphanet MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome confirmed dup(10)(q22.3q23.3) Orphanet:276422 Orphanet +MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym dup(10)(q22.3q23.3) Orphanet:276422 10q22.3q23.3 microduplication syndrome confirmed dup(10)(q22.3q23.3) Orphanet:276422 Orphanet MONDO:0017180 10q22.3q23.3 microduplication syndrome oio:hasExactSynonym trisomy 10q22.3q23.3 trisomy 10q22.3q23.3 Trisomy 10q22.3q23.3 Orphanet:276422 10q22.3q23.3 microduplication syndrome confirmed trisomy 10q22.3q23.3 Orphanet:276422 Orphanet MONDO:0017181 hypnic headache oio:hasExactSynonym hypnic headache hypnic headache Hypnic headache Orphanet:276429 Hypnic headache confirmed hypnic headache Orphanet:276429 Orphanet MONDO:0017182 familial hyperinsulinism oio:hasExactSynonym familial hyperinsulinemic hypoglycemia familial hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia Orphanet:276525 Familial hyperinsulinism confirmed familial hyperinsulinemic hypoglycemia Orphanet:276525 Orphanet @@ -16835,8 +16834,8 @@ MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion oio:h MONDO:0017284 Xp22.13p22.2 duplication syndrome oio:hasExactSynonym Duplication Xp22 Orphanet:284180 Xp22.13p22.2 duplication syndrome confirmed Duplication Xp22 Orphanet:284180 Orphanet MONDO:0017284 Xp22.13p22.2 duplication syndrome oio:hasExactSynonym dup(X)(p22) dup(X)(p22) dup(x)(p22) Orphanet:284180 Xp22.13p22.2 duplication syndrome confirmed dup(X)(p22) Orphanet:284180 Orphanet MONDO:0017284 Xp22.13p22.2 duplication syndrome oio:hasExactSynonym dup(X)(p22) dup(X)(p22) Dup(X)(p22) Orphanet:284180 Xp22.13p22.2 duplication syndrome confirmed dup(X)(p22) Orphanet:284180 Orphanet -MONDO:0017284 Xp22.13p22.2 duplication syndrome oio:hasExactSynonym dup(X)(p22.13p22.2) dup(X)(p22.13p22.2) dup(x)(p22.13p22.2) Orphanet:284180 Xp22.13p22.2 duplication syndrome confirmed dup(X)(p22.13p22.2) Orphanet:284180 Orphanet MONDO:0017284 Xp22.13p22.2 duplication syndrome oio:hasExactSynonym dup(X)(p22.13p22.2) dup(X)(p22.13p22.2) Dup(X)(p22.13p22.2) Orphanet:284180 Xp22.13p22.2 duplication syndrome confirmed dup(X)(p22.13p22.2) Orphanet:284180 Orphanet +MONDO:0017284 Xp22.13p22.2 duplication syndrome oio:hasExactSynonym dup(X)(p22.13p22.2) dup(X)(p22.13p22.2) dup(x)(p22.13p22.2) Orphanet:284180 Xp22.13p22.2 duplication syndrome confirmed dup(X)(p22.13p22.2) Orphanet:284180 Orphanet MONDO:0017285 penoscrotal transposition oio:hasExactSynonym penoscrotal transposition penoscrotal transposition Penoscrotal transposition Orphanet:2842 Penoscrotal transposition confirmed penoscrotal transposition Orphanet:2842 Orphanet MONDO:0017286 tempi syndrome oio:hasExactSynonym telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome Orphanet:284227 TEMPI syndrome confirmed telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome Orphanet:284227 Orphanet MONDO:0017287 IgG4-related disease oio:hasExactSynonym IgG4-related sclerosing disease Orphanet:284264 IgG4-related disease confirmed IgG4-related sclerosing disease Orphanet:284264 Orphanet @@ -17027,8 +17026,8 @@ MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy oio:hasExact MONDO:0017576 46,XX disorder of sex development oio:hasExactSynonym 46,XX DSD Orphanet:2982 46,XX difference of sex development confirmed 46,XX DSD Orphanet:2982 Orphanet MONDO:0017577 spontaneous periodic hypothermia oio:hasExactSynonym Shapiro syndrome Orphanet:29822 Spontaneous periodic hypothermia confirmed Shapiro syndrome Orphanet:29822 Orphanet MONDO:0017577 spontaneous periodic hypothermia oio:hasExactSynonym episodic spontaneous hypothermia episodic spontaneous hypothermia Episodic spontaneous hypothermia Orphanet:29822 Spontaneous periodic hypothermia confirmed episodic spontaneous hypothermia Orphanet:29822 Orphanet -MONDO:0017580 11p15.4 microduplication syndrome oio:hasExactSynonym dup(11)p(15.4) dup(11)p(15.4) Dup(11)p(15.4) Orphanet:300305 11p15.4 microduplication syndrome confirmed dup(11)p(15.4) Orphanet:300305 Orphanet MONDO:0017580 11p15.4 microduplication syndrome oio:hasExactSynonym dup(11)p(15.4) Orphanet:300305 11p15.4 microduplication syndrome confirmed dup(11)p(15.4) Orphanet:300305 Orphanet +MONDO:0017580 11p15.4 microduplication syndrome oio:hasExactSynonym dup(11)p(15.4) dup(11)p(15.4) Dup(11)p(15.4) Orphanet:300305 11p15.4 microduplication syndrome confirmed dup(11)p(15.4) Orphanet:300305 Orphanet MONDO:0017580 11p15.4 microduplication syndrome oio:hasExactSynonym trisomy 11p15.4 trisomy 11p15.4 Trisomy 11p15.4 Orphanet:300305 11p15.4 microduplication syndrome confirmed trisomy 11p15.4 Orphanet:300305 Orphanet MONDO:0017582 pituitary adenocarcinoma oio:hasExactSynonym pituitary carcinoma pituitary carcinoma Pituitary carcinoma Orphanet:300385 Pituitary carcinoma confirmed pituitary carcinoma Orphanet:300385 Orphanet MONDO:0017586 onychocytic matricoma oio:hasExactSynonym acanthoma of the nail matrix acanthoma of the nail matrix Acanthoma of the nail matrix Orphanet:300504 Onychocytic matricoma confirmed acanthoma of the nail matrix Orphanet:300504 Orphanet @@ -17218,8 +17217,8 @@ MONDO:0017780 20p13 microdeletion syndrome oio:hasExactSynonym 20p subtelomeric MONDO:0017780 20p13 microdeletion syndrome oio:hasExactSynonym Del(20)(p13) Orphanet:313781 20p13 microdeletion syndrome confirmed Del(20)(p13) Orphanet:313781 Orphanet MONDO:0017780 20p13 microdeletion syndrome oio:hasExactSynonym Del(20)(p13) Del(20)(p13) del(20)(p13) Orphanet:313781 20p13 microdeletion syndrome confirmed Del(20)(p13) Orphanet:313781 Orphanet MONDO:0017780 20p13 microdeletion syndrome oio:hasExactSynonym monosomy 20p13 monosomy 20p13 Monosomy 20p13 Orphanet:313781 20p13 microdeletion syndrome confirmed monosomy 20p13 Orphanet:313781 Orphanet -MONDO:0017781 12p12.1 microdeletion syndrome oio:hasExactSynonym Del(12)(p12.1) Del(12)(p12.1) del(12)(p12.1) Orphanet:313884 12p12.1 microdeletion syndrome confirmed Del(12)(p12.1) Orphanet:313884 Orphanet MONDO:0017781 12p12.1 microdeletion syndrome oio:hasExactSynonym Del(12)(p12.1) Orphanet:313884 12p12.1 microdeletion syndrome confirmed Del(12)(p12.1) Orphanet:313884 Orphanet +MONDO:0017781 12p12.1 microdeletion syndrome oio:hasExactSynonym Del(12)(p12.1) Del(12)(p12.1) del(12)(p12.1) Orphanet:313884 12p12.1 microdeletion syndrome confirmed Del(12)(p12.1) Orphanet:313884 Orphanet MONDO:0017781 12p12.1 microdeletion syndrome oio:hasExactSynonym monosomy 12p12.1 monosomy 12p12.1 Monosomy 12p12.1 Orphanet:313884 12p12.1 microdeletion syndrome confirmed monosomy 12p12.1 Orphanet:313884 Orphanet MONDO:0017783 congenital pancreatic cyst oio:hasExactSynonym neonatal congenital pancreatic cyst neonatal congenital pancreatic cyst Neonatal congenital pancreatic cyst Orphanet:313906 Congenital pancreatic cyst confirmed neonatal congenital pancreatic cyst Orphanet:313906 Orphanet MONDO:0017783 congenital pancreatic cyst oio:hasExactSynonym true congenital pancreatic cyst true congenital pancreatic cyst True congenital pancreatic cyst Orphanet:313906 Congenital pancreatic cyst confirmed true congenital pancreatic cyst Orphanet:313906 Orphanet @@ -17234,8 +17233,8 @@ MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples sy MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:hasExactSynonym familial fundic gland polyposis with gastric cancer familial fundic gland polyposis with gastric cancer Familial fundic gland polyposis with gastric cancer Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach confirmed familial fundic gland polyposis with gastric cancer Orphanet:314022 Orphanet MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach oio:hasExactSynonym GAPPS Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GAPPS Orphanet:314022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017791 high bone mass osteogenesis imperfecta oio:hasExactSynonym high bone mass OI high bone mass OI High bone mass OI Orphanet:314029 High bone mass osteogenesis imperfecta confirmed high bone mass OI Orphanet:314029 Orphanet -MONDO:0017792 7p22.1 microduplication syndrome oio:hasExactSynonym dup(7)(p22.1) Orphanet:314034 7p22.1 microduplication syndrome confirmed dup(7)(p22.1) Orphanet:314034 Orphanet MONDO:0017792 7p22.1 microduplication syndrome oio:hasExactSynonym dup(7)(p22.1) dup(7)(p22.1) Dup(7)(p22.1) Orphanet:314034 7p22.1 microduplication syndrome confirmed dup(7)(p22.1) Orphanet:314034 Orphanet +MONDO:0017792 7p22.1 microduplication syndrome oio:hasExactSynonym dup(7)(p22.1) Orphanet:314034 7p22.1 microduplication syndrome confirmed dup(7)(p22.1) Orphanet:314034 Orphanet MONDO:0017792 7p22.1 microduplication syndrome oio:hasExactSynonym trisomy 7p22.1 trisomy 7p22.1 Trisomy 7p22.1 Orphanet:314034 7p22.1 microduplication syndrome confirmed trisomy 7p22.1 Orphanet:314034 Orphanet MONDO:0017794 Xq12-q13.3 duplication syndrome oio:hasExactSynonym dup(X)(q12-q13.3) dup(X)(q12-q13.3) dup(x)(q12-q13.3) Orphanet:314389 Xq12-q13.3 duplication syndrome confirmed dup(X)(q12-q13.3) Orphanet:314389 Orphanet MONDO:0017794 Xq12-q13.3 duplication syndrome oio:hasExactSynonym dup(X)(q12-q13.3) dup(X)(q12-q13.3) Dup(X)(q12-q13.3) Orphanet:314389 Xq12-q13.3 duplication syndrome confirmed dup(X)(q12-q13.3) Orphanet:314389 Orphanet @@ -17251,8 +17250,8 @@ MONDO:0017808 duplication of the pituitary gland oio:hasExactSynonym hypophysea MONDO:0017809 parkinsonism due to ATP13A2 deficiency oio:hasExactSynonym CLN12 disease Orphanet:314632 CLN12 disease confirmed CLN12 disease Orphanet:314632 Orphanet MONDO:0017810 variant ABeta2M amyloidosis oio:hasExactSynonym autosomal dominant beta2-microglobulinic amyloidosis autosomal dominant beta2-microglobulinic amyloidosis Autosomal dominant beta2-microglobulinic amyloidosis Orphanet:314652 Variant ABeta2M amyloidosis confirmed autosomal dominant beta2-microglobulinic amyloidosis Orphanet:314652 Orphanet MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym 5q31.3 microdeletion syndrome Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed 5q31.3 microdeletion syndrome Orphanet:314655 Orphanet -MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Del(5)(q31.3) del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed Del(5)(q31.3) Orphanet:314655 Orphanet MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed Del(5)(q31.3) Orphanet:314655 Orphanet +MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym Del(5)(q31.3) Del(5)(q31.3) del(5)(q31.3) Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed Del(5)(q31.3) Orphanet:314655 Orphanet MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oio:hasExactSynonym monosomy 5q31.3 monosomy 5q31.3 Monosomy 5q31.3 Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion confirmed monosomy 5q31.3 Orphanet:314655 Orphanet MONDO:0017813 van Maldergem syndrome oio:hasExactSynonym Van Maldergem syndrome Orphanet:314679 Cerebrofacioarticular syndrome confirmed Van Maldergem syndrome Orphanet:314679 Orphanet MONDO:0017815 acquired porencephaly oio:hasExactSynonym acquired porencephaly acquired porencephaly Acquired porencephaly Orphanet:314697 Acquired porencephaly confirmed acquired porencephaly Orphanet:314697 Orphanet @@ -17374,8 +17373,8 @@ MONDO:0017923 multiple synostoses syndrome oio:hasExactSynonym symphalangism-br MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis oio:hasExactSynonym T-cell immunodeficiency due to RHOH deficiency Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis confirmed T-cell immunodeficiency due to RHOH deficiency Orphanet:324294 Orphanet MONDO:0017926 multiple paragangliomas associated with polycythemia oio:hasExactSynonym multiple paragangliomas associated with erythrocytosis multiple paragangliomas associated with erythrocytosis Multiple paragangliomas associated with erythrocytosis Orphanet:324299 Multiple paragangliomas associated with polycythemia confirmed multiple paragangliomas associated with erythrocytosis Orphanet:324299 Orphanet MONDO:0017926 multiple paragangliomas associated with polycythemia oio:hasExactSynonym paraganglioma-somatostatinoma-polycythemia syndrome paraganglioma-somatostatinoma-polycythemia syndrome Paraganglioma-somatostatinoma-polycythemia syndrome Orphanet:324299 Multiple paragangliomas associated with polycythemia confirmed paraganglioma-somatostatinoma-polycythemia syndrome Orphanet:324299 Orphanet -MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome confirmed Del(9)(p13) Orphanet:324313 Orphanet MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Del(9)(p13) del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome confirmed Del(9)(p13) Orphanet:324313 Orphanet +MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym Del(9)(p13) Orphanet:324313 9p13 microdeletion syndrome confirmed Del(9)(p13) Orphanet:324313 Orphanet MONDO:0017928 9p13 microdeletion syndrome oio:hasExactSynonym monosomy 9p13 monosomy 9p13 Monosomy 9p13 Orphanet:324313 9p13 microdeletion syndrome confirmed monosomy 9p13 Orphanet:324313 Orphanet MONDO:0017931 hereditary inclusion body myopathy type 4 oio:hasExactSynonym HIBM4 Orphanet:324381 Hereditary inclusion body myopathy type 4 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HIBM4 Orphanet:324381 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome oio:hasExactSynonym aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Orphanet:324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome confirmed aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome Orphanet:324540 Orphanet @@ -17562,8 +17561,8 @@ MONDO:0018124 Oncogenic osteomalacia oio:hasExactSynonym TIO Orphanet:352540 MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation oio:hasExactSynonym focal epilepsy-intellectual disability-dysarthria-ataxia syndrome focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation confirmed focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587 Orphanet MONDO:0018126 progressive myoclonic epilepsy with dystonia oio:hasExactSynonym progressive myoclonus epilepsy with dystonia progressive myoclonus epilepsy with dystonia Progressive myoclonus epilepsy with dystonia Orphanet:352596 Progressive myoclonic epilepsy with dystonia confirmed progressive myoclonus epilepsy with dystonia Orphanet:352596 Orphanet MONDO:0018126 progressive myoclonic epilepsy with dystonia oio:hasExactSynonym PMED Orphanet:352596 Progressive myoclonic epilepsy with dystonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PMED Orphanet:352596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome confirmed Del(16)(q24.1) Orphanet:352629 Orphanet MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Del(16)(q24.1) del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome confirmed Del(16)(q24.1) Orphanet:352629 Orphanet +MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym Del(16)(q24.1) Orphanet:352629 16q24.1 microdeletion syndrome confirmed Del(16)(q24.1) Orphanet:352629 Orphanet MONDO:0018127 16q24.1 microdeletion syndrome oio:hasExactSynonym monosomy 16q24.1 monosomy 16q24.1 Monosomy 16q24.1 Orphanet:352629 16q24.1 microdeletion syndrome confirmed monosomy 16q24.1 Orphanet:352629 Orphanet MONDO:0018128 phalangeal microgeodic syndrome oio:hasExactSynonym phalangeal osteolysis phalangeal osteolysis Phalangeal osteolysis Orphanet:352636 Phalangeal microgeodic syndrome confirmed phalangeal osteolysis Orphanet:352636 Orphanet MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity oio:hasExactSynonym autosomal recessive cerebellar ataxia due to GBA2 deficiency autosomal recessive cerebellar ataxia due to GBA2 deficiency Autosomal recessive cerebellar ataxia due to GBA2 deficiency Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity confirmed autosomal recessive cerebellar ataxia due to GBA2 deficiency Orphanet:352641 Orphanet @@ -17599,8 +17598,8 @@ MONDO:0018155 lateral sclerosis oio:hasExactSynonym adult-onset PLS adult-onset MONDO:0018155 lateral sclerosis oio:hasExactSynonym adult-onset primary lateral sclerosis adult-onset primary lateral sclerosis Adult-onset primary lateral sclerosis Orphanet:35689 Primary lateral sclerosis confirmed adult-onset primary lateral sclerosis Orphanet:35689 Orphanet MONDO:0018155 lateral sclerosis oio:hasExactSynonym primary lateral sclerosis primary lateral sclerosis Primary lateral sclerosis Orphanet:35689 Primary lateral sclerosis confirmed primary lateral sclerosis Orphanet:35689 Orphanet MONDO:0018155 lateral sclerosis oio:hasExactSynonym PLS Orphanet:35689 Primary lateral sclerosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PLS Orphanet:35689 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym Del(3)(q26q27) Orphanet:356947 3q26q27 microdeletion syndrome confirmed Del(3)(q26q27) Orphanet:356947 Orphanet MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym Del(3)(q26q27) Del(3)(q26q27) del(3)(q26q27) Orphanet:356947 3q26q27 microdeletion syndrome confirmed Del(3)(q26q27) Orphanet:356947 Orphanet +MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym Del(3)(q26q27) Orphanet:356947 3q26q27 microdeletion syndrome confirmed Del(3)(q26q27) Orphanet:356947 Orphanet MONDO:0018156 3q26q27 microdeletion syndrome oio:hasExactSynonym monosomy 3q26q27 monosomy 3q26q27 Monosomy 3q26q27 Orphanet:356947 3q26q27 microdeletion syndrome confirmed monosomy 3q26q27 Orphanet:356947 Orphanet MONDO:0018158 mitochondrial DNA depletion syndrome oio:hasExactSynonym mtDNA depletion syndrome Orphanet:35698 Mitochondrial DNA depletion syndrome confirmed mtDNA depletion syndrome Orphanet:35698 Orphanet MONDO:0018160 hereditary retinoblastoma oio:hasExactSynonym hereditary retinoblastoma hereditary retinoblastoma Hereditary retinoblastoma Orphanet:357027 Hereditary retinoblastoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hereditary retinoblastoma Orphanet:357027 Orphanet @@ -17661,8 +17660,8 @@ MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11 MONDO:0018204 20q11.2 microduplication syndrome oio:hasExactSynonym dup(20)(q11.2) Orphanet:363659 20q11.2 microduplication syndrome confirmed dup(20)(q11.2) Orphanet:363659 Orphanet MONDO:0018205 distal monosomy 1q oio:hasExactSynonym monosomy 1qter monosomy 1qter Monosomy 1qter Orphanet:36367 Distal deletion 1q syndrome confirmed monosomy 1qter Orphanet:36367 Orphanet MONDO:0018205 distal monosomy 1q oio:hasExactSynonym telomeric deletion 1q telomeric deletion 1q Telomeric deletion 1q Orphanet:36367 Distal deletion 1q syndrome confirmed telomeric deletion 1q Orphanet:36367 Orphanet -MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Del(2)(p13.2) del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome confirmed Del(2)(p13.2) Orphanet:363680 Orphanet MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome confirmed Del(2)(p13.2) Orphanet:363680 Orphanet +MONDO:0018207 2p13.2 microdeletion syndrome oio:hasExactSynonym Del(2)(p13.2) Del(2)(p13.2) del(2)(p13.2) Orphanet:363680 2p13.2 microdeletion syndrome confirmed Del(2)(p13.2) Orphanet:363680 Orphanet MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion oio:hasExactSynonym Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion confirmed Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700 Orphanet MONDO:0018209 Alexander disease type I oio:hasExactSynonym AxD type I Orphanet:363717 Alexander disease type I confirmed AxD type I Orphanet:363717 Orphanet MONDO:0018210 Alexander disease type II oio:hasExactSynonym AxD type II Orphanet:363722 Alexander disease type II confirmed AxD type II Orphanet:363722 Orphanet @@ -17870,15 +17869,15 @@ MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis oio:hasExa MONDO:0018428 9q31.1q31.3 microdeletion syndrome oio:hasExactSynonym Del(9)(q31.1q31.3) Del(9)(q31.1q31.3) del(9)(q31.1q31.3) Orphanet:401923 9q31.1q31.3 microdeletion syndrome confirmed Del(9)(q31.1q31.3) Orphanet:401923 Orphanet MONDO:0018428 9q31.1q31.3 microdeletion syndrome oio:hasExactSynonym Del(9)(q31.1q31.3) Orphanet:401923 9q31.1q31.3 microdeletion syndrome confirmed Del(9)(q31.1q31.3) Orphanet:401923 Orphanet MONDO:0018428 9q31.1q31.3 microdeletion syndrome oio:hasExactSynonym monosomy 9q31.1q31.3 monosomy 9q31.1q31.3 Monosomy 9q31.1q31.3 Orphanet:401923 9q31.1q31.3 microdeletion syndrome confirmed monosomy 9q31.1q31.3 Orphanet:401923 Orphanet -MONDO:0018429 14q24.1q24.3 microdeletion syndrome oio:hasExactSynonym Del(14)(q24.1q24.3) Del(14)(q24.1q24.3) del(14)(q24.1q24.3) Orphanet:401935 14q24.1q24.3 microdeletion syndrome confirmed Del(14)(q24.1q24.3) Orphanet:401935 Orphanet MONDO:0018429 14q24.1q24.3 microdeletion syndrome oio:hasExactSynonym Del(14)(q24.1q24.3) Orphanet:401935 14q24.1q24.3 microdeletion syndrome confirmed Del(14)(q24.1q24.3) Orphanet:401935 Orphanet +MONDO:0018429 14q24.1q24.3 microdeletion syndrome oio:hasExactSynonym Del(14)(q24.1q24.3) Del(14)(q24.1q24.3) del(14)(q24.1q24.3) Orphanet:401935 14q24.1q24.3 microdeletion syndrome confirmed Del(14)(q24.1q24.3) Orphanet:401935 Orphanet MONDO:0018429 14q24.1q24.3 microdeletion syndrome oio:hasExactSynonym monosomy 14q24.1q24.3 monosomy 14q24.1q24.3 Monosomy 14q24.1q24.3 Orphanet:401935 14q24.1q24.3 microdeletion syndrome confirmed monosomy 14q24.1q24.3 Orphanet:401935 Orphanet MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) oio:hasExactSynonym AML with t(6;9)(p23;q34) AML with t(6;9)(p23;q34) aml with t(6;9)(p23;q34) Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) confirmed AML with t(6;9)(p23;q34) Orphanet:402014 Orphanet MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) oio:hasExactSynonym AML with t(6;9)(p23;q34) Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) confirmed AML with t(6;9)(p23;q34) Orphanet:402014 Orphanet MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) oio:hasExactSynonym AML with t(9;11)(p22;q23) AML with t(9;11)(p22;q23) aml with t(9;11)(p22;q23) Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) confirmed AML with t(9;11)(p22;q23) Orphanet:402017 Orphanet MONDO:0018434 acute myeloid leukemia with t(9;11)(p22;q23) oio:hasExactSynonym AML with t(9;11)(p22;q23) Orphanet:402017 Acute myeloid leukemia with t(9;11)(p22;q23) confirmed AML with t(9;11)(p22;q23) Orphanet:402017 Orphanet -MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) oio:hasExactSynonym megakaryoblastic AML with t(1;22)(p13;q13) megakaryoblastic AML with t(1;22)(p13;q13) megakaryoblastic aml with t(1;22)(p13;q13) Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) confirmed megakaryoblastic AML with t(1;22)(p13;q13) Orphanet:402023 Orphanet MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) oio:hasExactSynonym megakaryoblastic AML with t(1;22)(p13;q13) megakaryoblastic AML with t(1;22)(p13;q13) Megakaryoblastic AML with t(1;22)(p13;q13) Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) confirmed megakaryoblastic AML with t(1;22)(p13;q13) Orphanet:402023 Orphanet +MONDO:0018436 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) oio:hasExactSynonym megakaryoblastic AML with t(1;22)(p13;q13) megakaryoblastic AML with t(1;22)(p13;q13) megakaryoblastic aml with t(1;22)(p13;q13) Orphanet:402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) confirmed megakaryoblastic AML with t(1;22)(p13;q13) Orphanet:402023 Orphanet MONDO:0018437 acute myeloid leukemia with NPM1 somatic mutations oio:hasExactSynonym AML with NPM1 somatic mutations Orphanet:402026 Acute myeloid leukemia with NPM1 somatic mutations confirmed AML with NPM1 somatic mutations Orphanet:402026 Orphanet MONDO:0018438 eosinophilic gastrointestinal disease oio:hasExactSynonym primary eosinophilic gastrointestinal disease primary eosinophilic gastrointestinal disease Primary eosinophilic gastrointestinal disease Orphanet:402029 Primary eosinophilic gastrointestinal disease confirmed primary eosinophilic gastrointestinal disease Orphanet:402029 Orphanet MONDO:0018438 eosinophilic gastrointestinal disease oio:hasExactSynonym EGID Orphanet:402029 Primary eosinophilic gastrointestinal disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EGID Orphanet:402029 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet @@ -18068,11 +18067,11 @@ MONDO:0018630 hereditary nonpolyposis colon cancer oio:hasExactSynonym HNPCC MONDO:0018631 Marie Unna hereditary hypotrichosis oio:hasExactSynonym Marie Unna congenital hypotrichosis Orphanet:444 Marie Unna hereditary hypotrichosis confirmed Marie Unna congenital hypotrichosis Orphanet:444 Orphanet MONDO:0018631 Marie Unna hereditary hypotrichosis oio:hasExactSynonym hypotrichosis, Marie Unna type hypotrichosis, Marie Unna type Hypotrichosis, Marie Unna type Orphanet:444 Marie Unna hereditary hypotrichosis confirmed hypotrichosis, Marie Unna type Orphanet:444 Orphanet MONDO:0018631 Marie Unna hereditary hypotrichosis oio:hasExactSynonym MUHH Orphanet:444 Marie Unna hereditary hypotrichosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MUHH Orphanet:444 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet -MONDO:0018632 11q22.2q22.3 microdeletion syndrome oio:hasExactSynonym Del(11)(q22.2q22.3) Orphanet:444002 11q22.2q22.3 microdeletion syndrome confirmed Del(11)(q22.2q22.3) Orphanet:444002 Orphanet MONDO:0018632 11q22.2q22.3 microdeletion syndrome oio:hasExactSynonym Del(11)(q22.2q22.3) Del(11)(q22.2q22.3) del(11)(q22.2q22.3) Orphanet:444002 11q22.2q22.3 microdeletion syndrome confirmed Del(11)(q22.2q22.3) Orphanet:444002 Orphanet +MONDO:0018632 11q22.2q22.3 microdeletion syndrome oio:hasExactSynonym Del(11)(q22.2q22.3) Orphanet:444002 11q22.2q22.3 microdeletion syndrome confirmed Del(11)(q22.2q22.3) Orphanet:444002 Orphanet MONDO:0018632 11q22.2q22.3 microdeletion syndrome oio:hasExactSynonym monosomy 11q22.2q22.3 monosomy 11q22.2q22.3 Monosomy 11q22.2q22.3 Orphanet:444002 11q22.2q22.3 microdeletion syndrome confirmed monosomy 11q22.2q22.3 Orphanet:444002 Orphanet -MONDO:0018633 20q11.2 microdeletion syndrome oio:hasExactSynonym Del(20)(q11.2) Orphanet:444051 20q11.2 microdeletion syndrome confirmed Del(20)(q11.2) Orphanet:444051 Orphanet MONDO:0018633 20q11.2 microdeletion syndrome oio:hasExactSynonym Del(20)(q11.2) Del(20)(q11.2) del(20)(q11.2) Orphanet:444051 20q11.2 microdeletion syndrome confirmed Del(20)(q11.2) Orphanet:444051 Orphanet +MONDO:0018633 20q11.2 microdeletion syndrome oio:hasExactSynonym Del(20)(q11.2) Orphanet:444051 20q11.2 microdeletion syndrome confirmed Del(20)(q11.2) Orphanet:444051 Orphanet MONDO:0018633 20q11.2 microdeletion syndrome oio:hasExactSynonym monosomy 20q11 monosomy 20q11 Monosomy 20q11 Orphanet:444051 20q11.2 microdeletion syndrome confirmed monosomy 20q11 Orphanet:444051 Orphanet MONDO:0018635 idiopathic phalangeal acro-osteolysis oio:hasExactSynonym idiopathic phalangeal acroosteolysis idiopathic phalangeal acroosteolysis Idiopathic phalangeal acroosteolysis Orphanet:444316 Idiopathic phalangeal acro-osteolysis confirmed idiopathic phalangeal acroosteolysis Orphanet:444316 Orphanet MONDO:0018636 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oio:hasExactSynonym Evans syndrome associated with primary immunodeficiency Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency confirmed Evans syndrome associated with primary immunodeficiency Orphanet:444463 Orphanet @@ -18123,8 +18122,8 @@ MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie syndrome Orphanet MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Holmes-Adie syndrome Orphanet:454718 Holmes-Adie syndrome confirmed Holmes-Adie syndrome Orphanet:454718 Orphanet MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym tonic pupil-tendon areflexia syndrome tonic pupil-tendon areflexia syndrome Tonic pupil-tendon areflexia syndrome Orphanet:454718 Holmes-Adie syndrome confirmed tonic pupil-tendon areflexia syndrome Orphanet:454718 Orphanet MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym H-type tracheoesophageal fistula Orphanet:454750 Isolated tracheoesophageal fistula confirmed H-type tracheoesophageal fistula Orphanet:454750 Orphanet -MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome confirmed Del(1)(p35.2) Orphanet:456298 Orphanet MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Del(1)(p35.2) del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome confirmed Del(1)(p35.2) Orphanet:456298 Orphanet +MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym Del(1)(p35.2) Orphanet:456298 1p35.2 microdeletion syndrome confirmed Del(1)(p35.2) Orphanet:456298 Orphanet MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym deletion 1p35.2 deletion 1p35.2 Deletion 1p35.2 Orphanet:456298 1p35.2 microdeletion syndrome confirmed deletion 1p35.2 Orphanet:456298 Orphanet MONDO:0018697 1p35.2 microdeletion syndrome oio:hasExactSynonym monosomy 1p35.2 monosomy 1p35.2 Monosomy 1p35.2 Orphanet:456298 1p35.2 microdeletion syndrome confirmed monosomy 1p35.2 Orphanet:456298 Orphanet MONDO:0018698 hereditary neuroendocrine tumor of small intestine oio:hasExactSynonym hereditary neuroendocrine tumor of small bowel hereditary neuroendocrine tumor of small bowel Hereditary neuroendocrine tumor of small bowel Orphanet:456333 Hereditary neuroendocrine tumor of small intestine confirmed hereditary neuroendocrine tumor of small bowel Orphanet:456333 Orphanet @@ -18142,8 +18141,8 @@ MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym PILA MONDO:0018715 congenital hemangioma oio:hasExactSynonym congenital hemangioma congenital hemangioma Congenital hemangioma Orphanet:458775 Congenital hemangioma confirmed congenital hemangioma Orphanet:458775 Orphanet MONDO:0018717 mixed cystic lymphatic malformation oio:hasExactSynonym mixed cystic lymphangioma mixed cystic lymphangioma Mixed cystic lymphangioma Orphanet:458792 Mixed cystic lymphatic malformation confirmed mixed cystic lymphangioma Orphanet:458792 Orphanet MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym 7q36.3 microduplication syndrome Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome confirmed 7q36.3 microduplication syndrome Orphanet:459074 Orphanet -MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) dup(7)(q36.3) Dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome confirmed dup(7)(q36.3) Orphanet:459074 Orphanet MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome confirmed dup(7)(q36.3) Orphanet:459074 Orphanet +MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome oio:hasExactSynonym dup(7)(q36.3) dup(7)(q36.3) Dup(7)(q36.3) Orphanet:459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome confirmed dup(7)(q36.3) Orphanet:459074 Orphanet MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation oio:hasExactSynonym DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation confirmed DYRK1A-related intellectual disability syndrome due to a point mutation Orphanet:464311 Orphanet MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym cutaneovisceral angiomatosis-thrombocytopenia syndrome cutaneovisceral angiomatosis-thrombocytopenia syndrome Cutaneovisceral angiomatosis-thrombocytopenia syndrome Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome confirmed cutaneovisceral angiomatosis-thrombocytopenia syndrome Orphanet:464321 Orphanet MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oio:hasExactSynonym multifocal lymphangioendotheliomatosis with thrombocytopenia multifocal lymphangioendotheliomatosis with thrombocytopenia Multifocal lymphangioendotheliomatosis with thrombocytopenia Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome confirmed multifocal lymphangioendotheliomatosis with thrombocytopenia Orphanet:464321 Orphanet @@ -19345,8 +19344,8 @@ MONDO:0019888 distal trisomy 20q oio:hasExactSynonym trisomy 20qter trisomy 20q MONDO:0019889 distal trisomy 22q oio:hasExactSynonym telomeric duplication 22q telomeric duplication 22q Telomeric duplication 22q Orphanet:96109 Distal duplication 22q syndrome confirmed telomeric duplication 22q Orphanet:96109 Orphanet MONDO:0019889 distal trisomy 22q oio:hasExactSynonym trisomy 22qter trisomy 22qter Trisomy 22qter Orphanet:96109 Distal duplication 22q syndrome confirmed trisomy 22qter Orphanet:96109 Orphanet MONDO:0019890 non-distal trisomy 9q oio:hasExactSynonym non-telomeric trisomy 9q non-telomeric trisomy 9q Non-telomeric trisomy 9q Orphanet:96112 Non-distal duplication 9q syndrome confirmed non-telomeric trisomy 9q Orphanet:96112 Orphanet -MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Orphanet:96123 Monosomy 22 syndrome confirmed Del(22) Orphanet:96123 Orphanet MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Del(22) del(22) Orphanet:96123 Monosomy 22 syndrome confirmed Del(22) Orphanet:96123 Orphanet +MONDO:0019891 monosomy 22 oio:hasExactSynonym Del(22) Orphanet:96123 Monosomy 22 syndrome confirmed Del(22) Orphanet:96123 Orphanet MONDO:0019891 monosomy 22 oio:hasExactSynonym deletion 22 deletion 22 Deletion 22 Orphanet:96123 Monosomy 22 syndrome confirmed deletion 22 Orphanet:96123 Orphanet MONDO:0019892 distal monosomy 7p oio:hasExactSynonym monosomy 7pter monosomy 7pter Monosomy 7pter Orphanet:96126 Distal deletion 7p syndrome confirmed monosomy 7pter Orphanet:96126 Orphanet MONDO:0019892 distal monosomy 7p oio:hasExactSynonym telomeric deletion 7p telomeric deletion 7p Telomeric deletion 7p Orphanet:96126 Distal deletion 7p syndrome confirmed telomeric deletion 7p Orphanet:96126 Orphanet @@ -19363,8 +19362,8 @@ MONDO:0019897 distal monosomy 12q oio:hasExactSynonym monosomy 12qter monosomy MONDO:0019897 distal monosomy 12q oio:hasExactSynonym telomeric deletion 12q telomeric deletion 12q Telomeric deletion 12q Orphanet:96149 Distal deletion 12q syndrome confirmed telomeric deletion 12q Orphanet:96149 Orphanet MONDO:0019898 distal monosomy 14q oio:hasExactSynonym telomeric deletion 14q telomeric deletion 14q Telomeric deletion 14q Orphanet:96150 Distal deletion 14q syndrome confirmed telomeric deletion 14q Orphanet:96150 Orphanet MONDO:0019900 non-distal monosomy 12q oio:hasExactSynonym non-telomeric monosomy 12q non-telomeric monosomy 12q Non-telomeric monosomy 12q Orphanet:96160 Non-distal deletion 12q syndrome confirmed non-telomeric monosomy 12q Orphanet:96160 Orphanet -MONDO:0019902 monosomy 13q34 oio:hasExactSynonym Del(13)(q34) Orphanet:96168 Monosomy 13q34 syndrome confirmed Del(13)(q34) Orphanet:96168 Orphanet MONDO:0019902 monosomy 13q34 oio:hasExactSynonym Del(13)(q34) Del(13)(q34) del(13)(q34) Orphanet:96168 Monosomy 13q34 syndrome confirmed Del(13)(q34) Orphanet:96168 Orphanet +MONDO:0019902 monosomy 13q34 oio:hasExactSynonym Del(13)(q34) Orphanet:96168 Monosomy 13q34 syndrome confirmed Del(13)(q34) Orphanet:96168 Orphanet MONDO:0019902 monosomy 13q34 oio:hasExactSynonym distal deletion 13q34 distal deletion 13q34 Distal deletion 13q34 Orphanet:96168 Monosomy 13q34 syndrome confirmed distal deletion 13q34 Orphanet:96168 Orphanet MONDO:0019902 monosomy 13q34 oio:hasExactSynonym subtelomeric deletion 13q34 subtelomeric deletion 13q34 Subtelomeric deletion 13q34 Orphanet:96168 Monosomy 13q34 syndrome confirmed subtelomeric deletion 13q34 Orphanet:96168 Orphanet MONDO:0019905 ring chromosome 9 oio:hasExactSynonym Ring 9 Orphanet:96173 Ring chromosome 9 syndrome confirmed Ring 9 Orphanet:96173 Orphanet @@ -19377,8 +19376,8 @@ MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chro MONDO:0019914 maternal uniparental disomy of chromosome 9 oio:hasExactSynonym UPD(9)mat Orphanet:96183 Maternal uniparental disomy of chromosome 9 syndrome confirmed UPD(9)mat Orphanet:96183 Orphanet MONDO:0019915 maternal uniparental disomy of chromosome 14 oio:hasExactSynonym UPD(14)mat Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 confirmed UPD(14)mat Orphanet:96184 Orphanet MONDO:0019916 maternal uniparental disomy of chromosome 16 oio:hasExactSynonym UPD(16)mat Orphanet:96185 Maternal uniparental disomy of chromosome 16 syndrome confirmed UPD(16)mat Orphanet:96185 Orphanet -MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) Maternal UPD(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 syndrome confirmed maternal UPD(20) Orphanet:96186 Orphanet MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) maternal upd(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 syndrome confirmed maternal UPD(20) Orphanet:96186 Orphanet +MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) Maternal UPD(20) Orphanet:96186 Maternal uniparental disomy of chromosome 20 syndrome confirmed maternal UPD(20) Orphanet:96186 Orphanet MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym UPD(20)mat Orphanet:96186 Maternal uniparental disomy of chromosome 20 syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed UPD(20)mat Orphanet:96186 Orphanet MONDO:0019918 maternal uniparental disomy of chromosome 21 oio:hasExactSynonym UPD(21)mat Orphanet:96187 Maternal uniparental disomy of chromosome 21 syndrome confirmed UPD(21)mat Orphanet:96187 Orphanet MONDO:0019919 maternal uniparental disomy of chromosome 22 oio:hasExactSynonym UPD(22)mat Orphanet:96188 Maternal uniparental disomy of chromosome 22 syndrome confirmed UPD(22)mat Orphanet:96188 Orphanet @@ -19388,8 +19387,8 @@ MONDO:0019922 paternal uniparental disomy of chromosome 7 oio:hasExactSynonym U MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 oio:hasExactSynonym Mosaic paternal uniparental disomy of chromosome 11 Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 confirmed Mosaic paternal uniparental disomy of chromosome 11 Orphanet:96193 Orphanet MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 oio:hasExactSynonym UPD(11)pat Orphanet:96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 confirmed UPD(11)pat Orphanet:96193 Orphanet MONDO:0019924 paternal uniparental disomy of chromosome 20 oio:hasExactSynonym UPD(20)pat Orphanet:96194 Paternal uniparental disomy of chromosome 20 syndrome confirmed UPD(20)pat Orphanet:96194 Orphanet -MONDO:0019924 paternal uniparental disomy of chromosome 20 oio:hasExactSynonym paternal UPD(20) paternal UPD(20) paternal upd(20) Orphanet:96194 Paternal uniparental disomy of chromosome 20 syndrome confirmed paternal UPD(20) Orphanet:96194 Orphanet MONDO:0019924 paternal uniparental disomy of chromosome 20 oio:hasExactSynonym paternal UPD(20) paternal UPD(20) Paternal UPD(20) Orphanet:96194 Paternal uniparental disomy of chromosome 20 syndrome confirmed paternal UPD(20) Orphanet:96194 Orphanet +MONDO:0019924 paternal uniparental disomy of chromosome 20 oio:hasExactSynonym paternal UPD(20) paternal UPD(20) paternal upd(20) Orphanet:96194 Paternal uniparental disomy of chromosome 20 syndrome confirmed paternal UPD(20) Orphanet:96194 Orphanet MONDO:0019925 paternal uniparental disomy of chromosome 21 oio:hasExactSynonym UPD(21)pat Orphanet:96195 Paternal uniparental disomy of chromosome 21 syndrome confirmed UPD(21)pat Orphanet:96195 Orphanet MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance oio:hasExactSynonym 46,XY DSD due to complete LH receptor inactivation Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance confirmed 46,XY DSD due to complete LH receptor inactivation Orphanet:96265 Orphanet MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance oio:hasExactSynonym 46,XY DSD due to complete LH resistance Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance confirmed 46,XY DSD due to complete LH resistance Orphanet:96265 Orphanet @@ -19512,6 +19511,7 @@ MONDO:0020250 autosomal dominant optic atrophy oio:hasExactSynonym DOA Orphan MONDO:0020257 supranuclear oculomotor palsy oio:hasExactSynonym supranuclear eye movement disorder supranuclear eye movement disorder Supranuclear eye movement disorder Orphanet:98687 Supranuclear eye movement disorder confirmed supranuclear eye movement disorder Orphanet:98687 Orphanet MONDO:0020283 uveitis oio:hasExactSynonym uveitis uveitis Uveitis Orphanet:98715 Uveitis confirmed uveitis Orphanet:98715 Orphanet MONDO:0020290 familial atrioventricular septal defect oio:hasExactSynonym Atrioventricular Septal Defect Atrioventricular Septal Defect Atrioventricular septal defect Orphanet:98722 Atrioventricular septal defect confirmed Atrioventricular Septal Defect Orphanet:98722 Orphanet +MONDO:0020292 congenital anomaly of the great arteries oio:hasExactSynonym congenital aorta, aortic arch or pulmonary arteries anomaly congenital aorta, aortic arch or pulmonary arteries anomaly Congenital aorta, aortic arch or pulmonary arteries anomaly Orphanet:98724 Congenital anomaly of the great arteries confirmed congenital aorta, aortic arch or pulmonary arteries anomaly Orphanet:98724 Orphanet MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 oio:hasExactSynonym UPD(15)mat Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 confirmed UPD(15)mat Orphanet:98754 Orphanet MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy oio:hasExactSynonym ADNFLE Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ADNFLE Orphanet:98784 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion oio:hasExactSynonym Angelman syndrome due to maternal monosomy 15q11q13 Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion confirmed Angelman syndrome due to maternal monosomy 15q11q13 Orphanet:98794 Orphanet @@ -19957,8 +19957,8 @@ MONDO:0034895 congenital brachyesophagus-intrathoracic stomach-vertebral anomali MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with BCR-ABL1 Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed AML with BCR-ABL1 Orphanet:585867 Orphanet MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed AML with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym AML with t(9;22)(q34.1;q11.2) AML with t(9;22)(q34.1;q11.2) aml with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed AML with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet -MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet +MONDO:0035112 acute myeloid leukemia with BCR-ABL1 oio:hasExactSynonym acute myeloid leukemia with t(9;22)(q34.1;q11.2) acute myeloid leukemia with t(9;22)(q34.1;q11.2) Acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) confirmed acute myeloid leukemia with t(9;22)(q34.1;q11.2) Orphanet:585867 Orphanet MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PCM1-JAK2 myeloid/lymphoid neoplasms with PCM1-JAK2 Myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement confirmed myeloid/lymphoid neoplasms with PCM1-JAK2 Orphanet:589542 Orphanet MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome oio:hasExactSynonym Chung-Jansen syndrome Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome confirmed Chung-Jansen syndrome Orphanet:589905 Orphanet MONDO:0035149 secondary erythromelalgia oio:hasExactSynonym Secondary erythermalgia Orphanet:529864 Secondary erythromelalgia confirmed Secondary erythermalgia Orphanet:529864 Orphanet @@ -20104,8 +20104,8 @@ MONDO:0035879 granuloma faciale oio:hasExactSynonym Facial granuloma of Lever MONDO:0035879 granuloma faciale oio:hasExactSynonym Granuloma of Lever Orphanet:615943 Granuloma faciale confirmed Granuloma of Lever Orphanet:615943 Orphanet MONDO:0035882 chronic intervillositis of unknown etiology oio:hasExactSynonym CIUE Orphanet:615970 Chronic intervillositis of unknown etiology http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CIUE Orphanet:615970 http://purl.obolibrary.org/obo/mondo#ABBREVIATION Orphanet MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency oio:hasExactSynonym 3-phosphoserine phosphatase deficiency, prenatal form Orphanet:583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency confirmed 3-phosphoserine phosphatase deficiency, prenatal form Orphanet:583612 Orphanet -MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) b-all with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 Orphanet MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 Orphanet +MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym B-ALL with t(9;22)(q34.1;q11.2) B-ALL with t(9;22)(q34.1;q11.2) b-all with t(9;22)(q34.1;q11.2) Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed B-ALL with t(9;22)(q34.1;q11.2) Orphanet:585909 Orphanet MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym BCR-ABL1-like B-ALL Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed BCR-ABL1-like B-ALL Orphanet:585909 Orphanet MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oio:hasExactSynonym Philadelphia chromosome-like B-ALL Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) confirmed Philadelphia chromosome-like B-ALL Orphanet:585909 Orphanet MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) oio:hasExactSynonym B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged Orphanet:585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) confirmed B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged Orphanet:585918 Orphanet @@ -20342,8 +20342,8 @@ MONDO:0100508 salivary gland type cancer of the breast oio:hasExactSynonym sali MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form oio:hasExactSynonym deoxyguanosine kinase deficiency deoxyguanosine kinase deficiency Deoxyguanosine kinase deficiency Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form confirmed deoxyguanosine kinase deficiency Orphanet:254871 Orphanet MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form oio:hasExactSynonym mtDNA depletion syndrome, hepatocerebral form Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form confirmed mtDNA depletion syndrome, hepatocerebral form Orphanet:254871 Orphanet MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oio:hasExactSynonym Kozlowski-Tsuruta syndrome Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type confirmed Kozlowski-Tsuruta syndrome Orphanet:2204 Orphanet -MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed Del(16)(p13.2) Orphanet:500055 Orphanet MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Del(16)(p13.2) del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed Del(16)(p13.2) Orphanet:500055 Orphanet +MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym Del(16)(p13.2) Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed Del(16)(p13.2) Orphanet:500055 Orphanet MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym chromosome 16P13.2 deletion syndrome chromosome 16P13.2 deletion syndrome Chromosome 16p13.2 deletion syndrome Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed chromosome 16P13.2 deletion syndrome Orphanet:500055 Orphanet MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym chromosome 16p13.2 deletion syndrome chromosome 16p13.2 deletion syndrome Chromosome 16p13.2 deletion syndrome Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed chromosome 16p13.2 deletion syndrome Orphanet:500055 Orphanet MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion oio:hasExactSynonym monosomy 16p13.2 monosomy 16p13.2 Monosomy 16p13.2 Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion confirmed monosomy 16p13.2 Orphanet:500055 Orphanet @@ -25684,7 +25684,6 @@ MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked oio:hasExactSynonym X-l MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked oio:hasExactSynonym primary ciliary dyskinesia 36 DOID:0111850 primary ciliary dyskinesia 36 added primary ciliary dyskinesia 36 DOID:0111850 DOID MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym amelogenesis imperfecta type 1E DOID:0110058 amelogenesis imperfecta type 1E added amelogenesis imperfecta type 1E DOID:0110058 DOID MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 added X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 DOID:0110059 DOID -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym amelogenesis imperfecta type IE X-linked 2 DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 added amelogenesis imperfecta type IE X-linked 2 DOID:0110059 DOID MONDO:0010523 X-linked reticulate pigmentary disorder oio:hasExactSynonym X-linked reticulate pigmentary disorder DOID:0111834 X-linked reticulate pigmentary disorder added X-linked reticulate pigmentary disorder DOID:0111834 DOID MONDO:0010523 X-linked reticulate pigmentary disorder oio:hasExactSynonym X-linked reticulate pigmentary disorder with systemic manifestations DOID:0111834 X-linked reticulate pigmentary disorder added X-linked reticulate pigmentary disorder with systemic manifestations DOID:0111834 DOID MONDO:0010524 X-linked sideroblastic anemia with ataxia oio:hasExactSynonym Anemia, sideroblastic, spinocerebellar ataxia DOID:0050554 X-linked sideroblastic anemia with ataxia added Anemia, sideroblastic, spinocerebellar ataxia DOID:0050554 DOID @@ -26013,7 +26012,6 @@ MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasE MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym proximal myopathy with early respiratory muscle involvement DOID:0111188 myofibrillar myopathy 9 added proximal myopathy with early respiratory muscle involvement DOID:0111188 DOID MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym MFM9 DOID:0111188 myofibrillar myopathy 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION added MFM9 DOID:0111188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym MPRM DOID:0111188 myofibrillar myopathy 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION added MPRM DOID:0111188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID -MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type oio:hasExactSynonym Ohdo syndrome, SBBYS variant DOID:0060290 Ohdo syndrome, SBBYS variant added Ohdo syndrome, SBBYS variant DOID:0060290 DOID MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type oio:hasExactSynonym blepharophimosis-intellectual disability syndrome, SBBYS type DOID:0060290 Ohdo syndrome, SBBYS variant added blepharophimosis-intellectual disability syndrome, SBBYS type DOID:0060290 DOID MONDO:0011374 hypercholesterolemia, familial, 4 oio:hasExactSynonym autosomal recessive hypercholesterolemia DOID:0090105 autosomal recessive hypercholesterolemia added autosomal recessive hypercholesterolemia DOID:0090105 DOID MONDO:0011381 dominant beta-thalassemia oio:hasExactSynonym autosomal dominant beta thalassemia DOID:0080770 autosomal dominant beta thalassemia added autosomal dominant beta thalassemia DOID:0080770 DOID @@ -35960,10 +35958,10 @@ MONDO:0005757 eumycotic mycetoma oio:hasExactSynonym mycotic mycetoma mycotic m MONDO:0005761 filarial elephantiasis oio:hasExactSynonym Bancroftian elephantiasis DOID:12211 filarial elephantiasis confirmed Bancroftian elephantiasis DOID:12211 DOID MONDO:0005761 filarial elephantiasis oio:hasExactSynonym Bancroftian filarial chyluria DOID:12211 filarial elephantiasis confirmed Bancroftian filarial chyluria DOID:12211 DOID MONDO:0005761 filarial elephantiasis oio:hasExactSynonym elephantiasis of eyelid DOID:12211 filarial elephantiasis confirmed elephantiasis of eyelid DOID:12211 DOID -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular Dendritic cell sarcoma DOID:6262 DOID MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular Dendritic cell sarcoma DOID:6262 DOID -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular dendritic cell sarcoma DOID:6262 DOID +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular Dendritic cell sarcoma DOID:6262 DOID MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular dendritic cell sarcoma DOID:6262 DOID +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic cell sarcoma DOID:6262 follicular dendritic cell sarcoma confirmed follicular dendritic cell sarcoma DOID:6262 DOID MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell tumour follicular dendritic cell tumour Follicular dendritic cell tumour DOID:6262 follicular dendritic cell sarcoma http://purl.obolibrary.org/obo/OMO_0003005 confirmed follicular dendritic cell tumour DOID:6262 DOID MONDO:0005767 gas gangrene oio:hasExactSynonym gas bacillus infection gas bacillus infection Gas bacillus infection DOID:9159 gas gangrene confirmed gas bacillus infection DOID:9159 DOID MONDO:0005767 gas gangrene oio:hasExactSynonym gas gangrene DOID:9159 gas gangrene confirmed gas gangrene DOID:9159 DOID @@ -36130,8 +36128,8 @@ MONDO:0005867 Mycoplasma pneumoniae pneumonia oio:hasExactSynonym Mycoplasma pn MONDO:0005867 Mycoplasma pneumoniae pneumonia oio:hasExactSynonym Mycoplasmal pneumonia DOID:13276 Mycoplasma pneumoniae pneumonia confirmed Mycoplasmal pneumonia DOID:13276 DOID MONDO:0005867 Mycoplasma pneumoniae pneumonia oio:hasExactSynonym cold agglutinin positive pneumonia DOID:13276 Mycoplasma pneumoniae pneumonia confirmed cold agglutinin positive pneumonia DOID:13276 DOID MONDO:0005867 Mycoplasma pneumoniae pneumonia oio:hasExactSynonym pneumonia due to Eaton's agent pneumonia due to Eaton's agent Pneumonia due to Eaton's agent DOID:13276 Mycoplasma pneumoniae pneumonia confirmed pneumonia due to Eaton's agent DOID:13276 DOID -MONDO:0005867 Mycoplasma pneumoniae pneumonia oio:hasExactSynonym pneumonia due to Mycoplasma pneumoniae pneumonia due to Mycoplasma pneumoniae pneumonia due to mycoplasma pneumoniae DOID:13276 Mycoplasma pneumoniae pneumonia confirmed pneumonia due to Mycoplasma pneumoniae DOID:13276 DOID MONDO:0005867 Mycoplasma pneumoniae pneumonia oio:hasExactSynonym pneumonia due to Mycoplasma pneumoniae pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae DOID:13276 Mycoplasma pneumoniae pneumonia confirmed pneumonia due to Mycoplasma pneumoniae DOID:13276 DOID +MONDO:0005867 Mycoplasma pneumoniae pneumonia oio:hasExactSynonym pneumonia due to Mycoplasma pneumoniae pneumonia due to Mycoplasma pneumoniae pneumonia due to mycoplasma pneumoniae DOID:13276 Mycoplasma pneumoniae pneumonia confirmed pneumonia due to Mycoplasma pneumoniae DOID:13276 DOID MONDO:0005867 Mycoplasma pneumoniae pneumonia oio:hasExactSynonym pneumonia due to Mycoplasma pneumoniae (disorder) pneumonia due to Mycoplasma pneumoniae (disorder) Pneumonia due to Mycoplasma pneumoniae (disorder) DOID:13276 Mycoplasma pneumoniae pneumonia confirmed pneumonia due to Mycoplasma pneumoniae (disorder) DOID:13276 DOID MONDO:0005868 myelophthisic anemia oio:hasExactSynonym anemia LEUKOERYTHROBLASTIC anemia LEUKOERYTHROBLASTIC ANEMIA LEUKOERYTHROBLASTIC DOID:2354 myelophthisic anemia confirmed anemia LEUKOERYTHROBLASTIC DOID:2354 DOID MONDO:0005868 myelophthisic anemia oio:hasExactSynonym anemia, leukoerythroblastic anemia, leukoerythroblastic Anemia, leukoerythroblastic DOID:2354 myelophthisic anemia confirmed anemia, leukoerythroblastic DOID:2354 DOID @@ -38775,8 +38773,8 @@ MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym craniocarpotarsal dy MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym craniocarpotarsal dystrophy DOID:0111604 Freeman-Sheldon syndrome confirmed craniocarpotarsal dystrophy DOID:0111604 DOID MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym whistling face syndrome DOID:0111604 Freeman-Sheldon syndrome confirmed whistling face syndrome DOID:0111604 DOID MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym whistling face-windmill vane hand syndrome DOID:0111604 Freeman-Sheldon syndrome confirmed whistling face-windmill vane hand syndrome DOID:0111604 DOID -MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A DOID:0111605 distal arthrogryposis type 2A confirmed distal arthrogryposis type 2A DOID:0111605 DOID MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A distal arthrogryposis type 2A distal arthrogryposis type 2a DOID:0111605 distal arthrogryposis type 2A confirmed distal arthrogryposis type 2A DOID:0111605 DOID +MONDO:0008675 Freeman-Sheldon syndrome oio:hasExactSynonym distal arthrogryposis type 2A DOID:0111605 distal arthrogryposis type 2A confirmed distal arthrogryposis type 2A DOID:0111605 DOID MONDO:0008676 white sponge nevus 1 oio:hasExactSynonym white sponge nevus 1 DOID:0081287 white sponge nevus 1 confirmed white sponge nevus 1 DOID:0081287 DOID MONDO:0008678 Williams syndrome oio:hasExactSynonym Fanconi Schlesinger syndrome DOID:1928 Williams-Beuren syndrome confirmed Fanconi Schlesinger syndrome DOID:1928 DOID MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome DOID:1928 Williams-Beuren syndrome confirmed Williams-Beuren syndrome DOID:1928 DOID @@ -39063,8 +39061,8 @@ MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym primary carnitine deficiency DOID:14365 systemic primary carnitine deficiency disease confirmed primary carnitine deficiency DOID:14365 DOID MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym renal carnitine transport defect DOID:14365 systemic primary carnitine deficiency disease confirmed renal carnitine transport defect DOID:14365 DOID MONDO:0008919 systemic primary carnitine deficiency disease oio:hasExactSynonym systemic primary carnitine deficiency disease DOID:14365 systemic primary carnitine deficiency disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed systemic primary carnitine deficiency disease DOID:14365 DOID -MONDO:0008922 Sengers syndrome oio:hasExactSynonym mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 mitochondrial dna depletion syndrome 10 DOID:0080132 Sengers syndrome confirmed mitochondrial DNA depletion syndrome 10 DOID:0080132 DOID MONDO:0008922 Sengers syndrome oio:hasExactSynonym mitochondrial DNA depletion syndrome 10 DOID:0080132 Sengers syndrome confirmed mitochondrial DNA depletion syndrome 10 DOID:0080132 DOID +MONDO:0008922 Sengers syndrome oio:hasExactSynonym mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 mitochondrial dna depletion syndrome 10 DOID:0080132 Sengers syndrome confirmed mitochondrial DNA depletion syndrome 10 DOID:0080132 DOID MONDO:0008922 Sengers syndrome oio:hasExactSynonym Sengers syndrome DOID:0080132 Sengers syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Sengers syndrome DOID:0080132 DOID MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym PPK-CA, Wallis type DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 confirmed PPK-CA, Wallis type DOID:0111245 DOID MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia oio:hasExactSynonym autosomal recessive palmoplantar hyperkeratosis and congenital alopecia DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 confirmed autosomal recessive palmoplantar hyperkeratosis and congenital alopecia DOID:0111245 DOID @@ -39852,8 +39850,8 @@ MONDO:0009650 mucolipidosis type II oio:hasExactSynonym mucolipidosis II DOID MONDO:0009653 mucolipidosis type IV oio:hasExactSynonym mucolipidosis type IV DOID:0080490 mucolipidosis type IV confirmed mucolipidosis type IV DOID:0080490 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym Sanfilippo syndrome type A DOID:0111395 mucopolysaccharidosis type IIIA confirmed Sanfilippo syndrome type A DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym heparan sulfamidase deficiency DOID:0111395 mucopolysaccharidosis type IIIA confirmed heparan sulfamidase deficiency DOID:0111395 DOID -MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA confirmed mucopolysaccharidosis type IIIA DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA DOID:0111395 mucopolysaccharidosis type IIIA confirmed mucopolysaccharidosis type IIIA DOID:0111395 DOID +MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA mucopolysaccharidosis type IIIA mucopolysaccharidosis type iiia DOID:0111395 mucopolysaccharidosis type IIIA confirmed mucopolysaccharidosis type IIIA DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type IIIA (Sanfilippo A) DOID:0111395 mucopolysaccharidosis type IIIA confirmed mucopolysaccharidosis type IIIA (Sanfilippo A) DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym mucopolysaccharidosis type 3A DOID:0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed mucopolysaccharidosis type 3A DOID:0111395 DOID MONDO:0009655 mucopolysaccharidosis type 3A oio:hasExactSynonym MPS3A DOID:0111395 mucopolysaccharidosis type IIIA http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPS3A DOID:0111395 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -39869,8 +39867,8 @@ MONDO:0009656 mucopolysaccharidosis type 3B oio:hasExactSynonym MPSIIIB DOID: MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym HGSNAT deficiency DOID:0111393 mucopolysaccharidosis type IIIC confirmed HGSNAT deficiency DOID:0111393 DOID MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym Sanfilippo syndrome type C DOID:0111393 mucopolysaccharidosis type IIIC confirmed Sanfilippo syndrome type C DOID:0111393 DOID MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym heparan-alpha-glucosaminide N-acetyltransferase deficiency heparan-alpha-glucosaminide N-acetyltransferase deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency DOID:0111393 mucopolysaccharidosis type IIIC confirmed heparan-alpha-glucosaminide N-acetyltransferase deficiency DOID:0111393 DOID -MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym mucopolysaccharidosis type IIIC DOID:0111393 mucopolysaccharidosis type IIIC confirmed mucopolysaccharidosis type IIIC DOID:0111393 DOID MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym mucopolysaccharidosis type IIIC mucopolysaccharidosis type IIIC mucopolysaccharidosis type iiic DOID:0111393 mucopolysaccharidosis type IIIC confirmed mucopolysaccharidosis type IIIC DOID:0111393 DOID +MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym mucopolysaccharidosis type IIIC DOID:0111393 mucopolysaccharidosis type IIIC confirmed mucopolysaccharidosis type IIIC DOID:0111393 DOID MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym mucopolysaccharidosis type IIIC (Sanfilippo C) DOID:0111393 mucopolysaccharidosis type IIIC confirmed mucopolysaccharidosis type IIIC (Sanfilippo C) DOID:0111393 DOID MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym mucopolysaccharidosis type 3C mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3C DOID:0111393 mucopolysaccharidosis type IIIC http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed mucopolysaccharidosis type 3C DOID:0111393 DOID MONDO:0009657 mucopolysaccharidosis type 3C oio:hasExactSynonym MPS3C DOID:0111393 mucopolysaccharidosis type IIIC http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPS3C DOID:0111393 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID @@ -39888,8 +39886,8 @@ MONDO:0009659 mucopolysaccharidosis type 4A oio:hasExactSynonym MPS4A DOID:01 MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Beta-D-galactosidase deficiency Beta-D-galactosidase deficiency beta-D-galactosidase deficiency DOID:0111392 mucopolysaccharidosis type IVB confirmed Beta-D-galactosidase deficiency DOID:0111392 DOID MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Morquio disease type B DOID:0111392 mucopolysaccharidosis type IVB confirmed Morquio disease type B DOID:0111392 DOID MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym Morquio syndrome B DOID:0111392 mucopolysaccharidosis type IVB confirmed Morquio syndrome B DOID:0111392 DOID -MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB mucopolysaccharidosis type ivb DOID:0111392 mucopolysaccharidosis type IVB confirmed mucopolysaccharidosis type IVB DOID:0111392 DOID MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym mucopolysaccharidosis type IVB DOID:0111392 mucopolysaccharidosis type IVB confirmed mucopolysaccharidosis type IVB DOID:0111392 DOID +MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym mucopolysaccharidosis type IVB mucopolysaccharidosis type IVB mucopolysaccharidosis type ivb DOID:0111392 mucopolysaccharidosis type IVB confirmed mucopolysaccharidosis type IVB DOID:0111392 DOID MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym mucopolysaccharidosis type IVB (Morquio) DOID:0111392 mucopolysaccharidosis type IVB confirmed mucopolysaccharidosis type IVB (Morquio) DOID:0111392 DOID MONDO:0009660 mucopolysaccharidosis type 4B oio:hasExactSynonym MPS4B DOID:0111392 mucopolysaccharidosis type IVB http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPS4B DOID:0111392 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0009661 mucopolysaccharidosis type 6 oio:hasExactSynonym MPS VI - Maroteaux-Lamy syndrome DOID:12800 mucopolysaccharidosis VI confirmed MPS VI - Maroteaux-Lamy syndrome DOID:12800 DOID @@ -40747,8 +40745,8 @@ MONDO:0010300 intellectual disability, X-linked 53 oio:hasExactSynonym MRX53 MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym Hypomelanosis of Ito Hypomelanosis of Ito hypomelanosis of Ito DOID:3156 hypomelanosis of Ito confirmed Hypomelanosis of Ito DOID:3156 DOID MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym hypomelanosis of Ito DOID:3156 hypomelanosis of Ito confirmed hypomelanosis of Ito DOID:3156 DOID MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym SLC6A8 deficiency DOID:0050800 cerebral creatine deficiency syndrome 1 confirmed SLC6A8 deficiency DOID:0050800 DOID -MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 DOID:0050800 cerebral creatine deficiency syndrome 1 confirmed cerebral creatine deficiency syndrome 1 DOID:0050800 DOID MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 DOID:0050800 cerebral creatine deficiency syndrome 1 confirmed cerebral creatine deficiency syndrome 1 DOID:0050800 DOID +MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym cerebral creatine deficiency syndrome 1 cerebral creatine deficiency syndrome 1 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 DOID:0050800 cerebral creatine deficiency syndrome 1 confirmed cerebral creatine deficiency syndrome 1 DOID:0050800 DOID MONDO:0010305 creatine transporter deficiency oio:hasExactSynonym creatine transporter deficiency DOID:0050800 cerebral creatine deficiency syndrome 1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed creatine transporter deficiency DOID:0050800 DOID MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym syndromic X-linked intellectual disability Cabezas type DOID:0060822 syndromic X-linked intellectual disability Cabezas type confirmed syndromic X-linked intellectual disability Cabezas type DOID:0060822 DOID MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym Cabezas syndrome; syndromic X-linked mental retardation 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Cabezas syndrome; syndromic X-linked mental retardation 15 DOID:0060822 DOID @@ -41027,6 +41025,7 @@ MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym amelogenesis MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym amelogenesis imperfecta type IE DOID:0110058 amelogenesis imperfecta type 1E confirmed amelogenesis imperfecta type IE DOID:0110058 DOID MONDO:0010521 amelogenesis imperfecta type 1E oio:hasExactSynonym AIH1 DOID:0110058 amelogenesis imperfecta type 1E http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIH1 DOID:0110058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010521 amelogenesis imperfecta type 1E oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110058 amelogenesis imperfecta type 1E confirmed X-linked enamel hypoplasia DOID:0110058 DOID +MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym amelogenesis imperfecta type IE X-linked 2 DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 confirmed amelogenesis imperfecta type IE X-linked 2 DOID:0110059 DOID MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym amelogenesis imperfecta 3 hypoplastic type DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed amelogenesis imperfecta 3 hypoplastic type DOID:0110059 DOID MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasExactSynonym AIH3 DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIH3 DOID:0110059 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oio:hasRelatedSynonym X-linked enamel hypoplasia DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 confirmed X-linked enamel hypoplasia DOID:0110059 DOID @@ -41469,8 +41468,8 @@ MONDO:0010878 hereditary spastic paraplegia 6 oio:hasExactSynonym SPG6 DOID:0 MONDO:0010879 CODAS syndrome oio:hasExactSynonym CODAS syndrome DOID:0111274 CODAS syndrome confirmed CODAS syndrome DOID:0111274 DOID MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Albright hereditary osteodystrophy type 3 DOID:0111704 chromosome 2q37 deletion syndrome confirmed Albright hereditary osteodystrophy type 3 DOID:0111704 DOID MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Albright hereditary osteodystrophy-like syndrome DOID:0111704 chromosome 2q37 deletion syndrome confirmed Albright hereditary osteodystrophy-like syndrome DOID:0111704 DOID -MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Del(2)(q37) DOID:0111704 chromosome 2q37 deletion syndrome confirmed Del(2)(q37) DOID:0111704 DOID MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Del(2)(q37) Del(2)(q37) del(2)(q37) DOID:0111704 chromosome 2q37 deletion syndrome confirmed Del(2)(q37) DOID:0111704 DOID +MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym Del(2)(q37) DOID:0111704 chromosome 2q37 deletion syndrome confirmed Del(2)(q37) DOID:0111704 DOID MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym brachydactyly-intellectual disability syndrome brachydactyly-intellectual disability syndrome Brachydactyly-intellectual disability syndrome DOID:0111704 chromosome 2q37 deletion syndrome confirmed brachydactyly-intellectual disability syndrome DOID:0111704 DOID MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym deletion 2q37 DOID:0111704 chromosome 2q37 deletion syndrome confirmed deletion 2q37 DOID:0111704 DOID MONDO:0010886 2q37 microdeletion syndrome oio:hasExactSynonym 2q37 microdeletion syndrome DOID:0111704 chromosome 2q37 deletion syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed 2q37 microdeletion syndrome DOID:0111704 DOID @@ -41925,6 +41924,7 @@ MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasE MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym hereditary inclusion body myopathy with early respiratory failure hereditary inclusion body myopathy with early respiratory failure Hereditary inclusion body myopathy with early respiratory failure DOID:0111188 myofibrillar myopathy 9 confirmed hereditary inclusion body myopathy with early respiratory failure DOID:0111188 DOID MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym HIBM-ERF DOID:0111188 myofibrillar myopathy 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HIBM-ERF DOID:0111188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure oio:hasExactSynonym HMERF DOID:0111188 myofibrillar myopathy 9 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HMERF DOID:0111188 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type oio:hasExactSynonym Ohdo syndrome, SBBYS variant DOID:0060290 Ohdo syndrome, SBBYS variant confirmed Ohdo syndrome, SBBYS variant DOID:0060290 DOID MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type oio:hasExactSynonym Say-Barber-Biesecker-Young-Simpson syndrome DOID:0060290 Ohdo syndrome, SBBYS variant confirmed Say-Barber-Biesecker-Young-Simpson syndrome DOID:0060290 DOID MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym germ cell neoplasm of ovary germ cell neoplasm of ovary germ cell neoplasm of Ovary DOID:2156 ovarian germ cell cancer confirmed germ cell neoplasm of ovary DOID:2156 DOID MONDO:0011366 ovarian germ cell tumor oio:hasExactSynonym germ cell tumor of ovary DOID:2156 ovarian germ cell cancer confirmed germ cell tumor of ovary DOID:2156 DOID @@ -46984,8 +46984,8 @@ MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer ce MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural Killer cell leukaemia natural Killer cell leukaemia natural killer cell leukaemia DOID:1035 aggressive NK-cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed natural Killer cell leukaemia DOID:1035 DOID MONDO:0019470 aggressive NK-cell leukemia oio:hasExactSynonym natural killer cell leukaemia DOID:1035 aggressive NK-cell leukemia http://purl.obolibrary.org/obo/OMO_0003005 confirmed natural killer cell leukaemia DOID:1035 DOID MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia DOID:0050523 adult T-cell leukemia/lymphoma confirmed adult T-cell leukemia DOID:0050523 DOID -MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma adult t-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma confirmed adult T-cell leukemia/lymphoma DOID:0050523 DOID MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma confirmed adult T-cell leukemia/lymphoma DOID:0050523 DOID +MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell leukemia/lymphoma adult T-cell leukemia/lymphoma adult t-cell leukemia/lymphoma DOID:0050523 adult T-cell leukemia/lymphoma confirmed adult T-cell leukemia/lymphoma DOID:0050523 DOID MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym nasal type Extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma nasal type extranodal NK/T-cell lymphoma DOID:0080797 nasal type extranodal NK/T-cell lymphoma confirmed nasal type Extranodal NK/T-cell lymphoma DOID:0080797 DOID MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma DOID:0080915 histiocytic sarcoma confirmed histiocytic sarcoma DOID:0080915 DOID MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma DOID:7146 Langerhans cell sarcoma confirmed Langerhans cell sarcoma DOID:7146 DOID @@ -47084,8 +47084,8 @@ MONDO:0019805 twin to twin transfusion syndrome oio:hasExactSynonym Twin-to-twi MONDO:0019805 twin to twin transfusion syndrome oio:hasExactSynonym fetal blood loss from fetal hemorrhage into co-twin fetal blood loss from fetal hemorrhage into co-twin Fetal blood loss from fetal hemorrhage into co-twin DOID:13576 twin-to-twin transfusion syndrome confirmed fetal blood loss from fetal hemorrhage into co-twin DOID:13576 DOID MONDO:0019805 twin to twin transfusion syndrome oio:hasExactSynonym fetal hemorrhage into co-twin fetal hemorrhage into co-twin Fetal hemorrhage into co-twin DOID:13576 twin-to-twin transfusion syndrome confirmed fetal hemorrhage into co-twin DOID:13576 DOID MONDO:0019805 twin to twin transfusion syndrome oio:hasExactSynonym twin-to-twin transfusion syndrome DOID:13576 twin-to-twin transfusion syndrome confirmed twin-to-twin transfusion syndrome DOID:13576 DOID -MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) DOID:0111714 Mulchandani-Bhoj-Conlin syndrome confirmed maternal UPD(20) DOID:0111714 DOID MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) maternal UPD(20) maternal upd(20) DOID:0111714 Mulchandani-Bhoj-Conlin syndrome confirmed maternal UPD(20) DOID:0111714 DOID +MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym maternal UPD(20) DOID:0111714 Mulchandani-Bhoj-Conlin syndrome confirmed maternal UPD(20) DOID:0111714 DOID MONDO:0019917 maternal uniparental disomy of chromosome 20 oio:hasExactSynonym UPD(20)mat DOID:0111714 Mulchandani-Bhoj-Conlin syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed UPD(20)mat DOID:0111714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance oio:hasExactSynonym 46,XY DSD due to complete LH receptor inactivation DOID:0112260 Leydig cell hypoplasia type I confirmed 46,XY DSD due to complete LH receptor inactivation DOID:0112260 DOID MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance oio:hasExactSynonym 46,XY DSD due to complete LH resistance DOID:0112260 Leydig cell hypoplasia type I confirmed 46,XY DSD due to complete LH resistance DOID:0112260 DOID @@ -50255,8 +50255,8 @@ MONDO:0010294 X-linked severe congenital neutropenia oio:hasExactSynonym oio:has MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym oio:hasRelatedSynonym Hprt1 deficiency Hprt1 deficiency HPRT1 deficiency DOID:1919 Lesch-Nyhan syndrome updated Hprt1 deficiency DOID:1919 DOID MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency oio:hasExactSynonym oio:hasRelatedSynonym KELLEY-Seegmiller syndrome KELLEY-Seegmiller syndrome Kelley-Seegmiller syndrome DOID:0112127 HRPT-related hyperuricemia updated KELLEY-Seegmiller syndrome DOID:0112127 DOID MONDO:0010302 Ito hypomelanosis oio:hasExactSynonym oio:hasRelatedSynonym Incontinentia pigmenti achromians Incontinentia pigmenti achromians incontinentia pigmenti achromians DOID:3156 hypomelanosis of Ito updated Incontinentia pigmenti achromians DOID:3156 DOID -MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 mental retardation, x-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED updated mental retardation, X-linked, syndromic 15 DOID:0060822 DOID MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED updated mental retardation, X-linked, syndromic 15 DOID:0060822 DOID +MONDO:0010306 X-linked intellectual disability, Cabezas type oio:hasExactSynonym oio:hasRelatedSynonym mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 mental retardation, x-linked, syndromic 15 DOID:0060822 syndromic X-linked intellectual disability Cabezas type http://purl.obolibrary.org/obo/mondo#DEPRECATED updated mental retardation, X-linked, syndromic 15 DOID:0060822 DOID MONDO:0010313 intellectual disability, X-linked 63 oio:hasExactSynonym oio:hasRelatedSynonym ACSL4-related intellectual disability DOID:0112050 non-syndromic X-linked intellectual disability 63 GARD:0005613 updated ACSL4-related intellectual disability DOID:0112050 DOID MONDO:0010313 intellectual disability, X-linked 63 oio:hasExactSynonym oio:hasRelatedSynonym MRX63 DOID:0112050 non-syndromic X-linked intellectual disability 63 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED MONDO:Lexical updated MRX63 DOID:0112050 http://purl.obolibrary.org/obo/mondo#ABBREVIATION DOID MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related oio:hasExactSynonym oio:hasRelatedSynonym ARX-related intellectual disability DOID:0112021 non-syndromic X-linked intellectual disability ARX-related GARD:0005614 updated ARX-related intellectual disability DOID:0112021 DOID @@ -54685,8 +54685,8 @@ MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy oio:hasE MONDO:0006861 myeloid sarcoma oio:hasExactSynonym oio:hasRelatedSynonym granulocytic sarcoma granulocytic sarcoma Granulocytic sarcoma ICD10CM:C92.3 Myeloid sarcoma updated granulocytic sarcoma ICD10CM:C92.3 ICD10CM MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasBroadSynonym acoustic neurofibromatosis acoustic neurofibromatosis Acoustic neurofibromatosis ICD10CM:Q85.02 Neurofibromatosis, type 2 updated acoustic neurofibromatosis ICD10CM:Q85.02 ICD10CM MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis, type 2 neurofibromatosis, type 2 Neurofibromatosis, type 2 ICD10CM:Q85.02 Neurofibromatosis, type 2 updated neurofibromatosis, type 2 ICD10CM:Q85.02 ICD10CM -MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta ICD10CM:Q25.1 Coarctation of aorta updated coarctation of aorta ICD10CM:Q25.1 ICD10CM MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta coarctation of aorta Coarctation of aorta ICD10CM:Q25.1 Coarctation of aorta updated coarctation of aorta ICD10CM:Q25.1 ICD10CM +MONDO:0007345 aorta coarctation oio:hasExactSynonym oio:hasRelatedSynonym coarctation of aorta ICD10CM:Q25.1 Coarctation of aorta updated coarctation of aorta ICD10CM:Q25.1 ICD10CM MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasRelatedSynonym autoimmune thyroiditis autoimmune thyroiditis Autoimmune thyroiditis ICD10CM:E06.3 Autoimmune thyroiditis updated autoimmune thyroiditis ICD10CM:E06.3 ICD10CM MONDO:0007699 Hashimoto thyroiditis oio:hasExactSynonym oio:hasBroadSynonym lymphocytic thyroiditis lymphocytic thyroiditis Lymphocytic thyroiditis ICD10CM:E06.3 Autoimmune thyroiditis updated lymphocytic thyroiditis ICD10CM:E06.3 ICD10CM MONDO:0007810 autosomal dominant ichthyosis vulgaris oio:hasExactSynonym oio:hasRelatedSynonym ichthyosis vulgaris ichthyosis vulgaris Ichthyosis vulgaris ICD10CM:Q80.0 Ichthyosis vulgaris updated ichthyosis vulgaris ICD10CM:Q80.0 ICD10CM @@ -54881,7 +54881,7 @@ MONDO:0000680 astereognosia oio:hasExactSynonym tactile agnosia icd11.foundat MONDO:0000680 astereognosia oio:hasExactSynonym tactile amnesia icd11.foundation:756147896 Astereognosia added tactile amnesia icd11.foundation:756147896 icd11.foundation MONDO:0000687 diffuse alopecia areata oio:hasExactSynonym Diffuse alopecia areata icd11.foundation:666274267 Diffuse alopecia areata added Diffuse alopecia areata icd11.foundation:666274267 icd11.foundation MONDO:0000690 body dysmorphic disorder oio:hasExactSynonym Body dysmorphic disorder icd11.foundation:731724655 Body dysmorphic disorder added Body dysmorphic disorder icd11.foundation:731724655 icd11.foundation -MONDO:0000698 gamma-amino butyric acid metabolism disorder oio:hasExactSynonym Disorders of GABA - [gamma aminobutyric acid] metabolism icd11.foundation:1811657969 Disorders of gamma aminobutyric acid metabolism added Disorders of GABA - [gamma aminobutyric acid] metabolism icd11.foundation:1811657969 icd11.foundation +MONDO:0000698 gamma-amino butyric acid metabolism disorder oio:hasExactSynonym Disorders of GABA - [gamma aminobutyric acid] metabolism icd11.foundation:1811657969 Disorders of gamma aminobutyric acid metabolism added Disorders of GABA - [gamma aminobutyric acid] metabolism icd11.foundation:1811657969 icd11.foundation MONDO:0000698 gamma-amino butyric acid metabolism disorder oio:hasExactSynonym Disorders of gamma aminobutyric acid metabolism icd11.foundation:1811657969 Disorders of gamma aminobutyric acid metabolism added Disorders of gamma aminobutyric acid metabolism icd11.foundation:1811657969 icd11.foundation MONDO:0000700 familial hemiplegic migraine oio:hasExactSynonym FHM - [familial hemiplegic migraine] icd11.foundation:1827007904 Familial hemiplegic migraine added FHM - [familial hemiplegic migraine] icd11.foundation:1827007904 icd11.foundation MONDO:0000700 familial hemiplegic migraine oio:hasExactSynonym fhm - icd11.foundation:1827007904 Familial hemiplegic migraine added fhm - icd11.foundation:1827007904 icd11.foundation @@ -54921,11 +54921,11 @@ MONDO:0000749 breast abscess oio:hasExactSynonym Breast abscess icd11.foundat MONDO:0000754 anal fistula oio:hasExactSynonym Allingham ulcer icd11.foundation:206903882 Anal fistula added Allingham ulcer icd11.foundation:206903882 icd11.foundation MONDO:0000754 anal fistula oio:hasExactSynonym fistula in ano icd11.foundation:206903882 Anal fistula added fistula in ano icd11.foundation:206903882 icd11.foundation MONDO:0000754 anal fistula oio:hasExactSynonym perianal fistula icd11.foundation:206903882 Anal fistula added perianal fistula icd11.foundation:206903882 icd11.foundation -MONDO:0000755 ectopic pregnancy oio:hasExactSynonym EP - [ectopic pregnancy] icd11.foundation:1563334645 Ectopic pregnancy added EP - [ectopic pregnancy] icd11.foundation:1563334645 icd11.foundation +MONDO:0000755 ectopic pregnancy oio:hasExactSynonym EP - [ectopic pregnancy] icd11.foundation:1563334645 Ectopic pregnancy added EP - [ectopic pregnancy] icd11.foundation:1563334645 icd11.foundation MONDO:0000755 ectopic pregnancy oio:hasExactSynonym Ectopic pregnancy icd11.foundation:1563334645 Ectopic pregnancy added Ectopic pregnancy icd11.foundation:1563334645 icd11.foundation MONDO:0000755 ectopic pregnancy oio:hasExactSynonym aborted ectopic pregnancy icd11.foundation:1563334645 Ectopic pregnancy added aborted ectopic pregnancy icd11.foundation:1563334645 icd11.foundation MONDO:0000755 ectopic pregnancy oio:hasExactSynonym ectopic mole icd11.foundation:1563334645 Ectopic pregnancy added ectopic mole icd11.foundation:1563334645 icd11.foundation -MONDO:0000755 ectopic pregnancy oio:hasExactSynonym ep - icd11.foundation:1563334645 Ectopic pregnancy added ep - icd11.foundation:1563334645 icd11.foundation +MONDO:0000755 ectopic pregnancy oio:hasExactSynonym ep - icd11.foundation:1563334645 Ectopic pregnancy added ep - icd11.foundation:1563334645 icd11.foundation MONDO:0000755 ectopic pregnancy oio:hasExactSynonym extrauterine gestation or pregnancy icd11.foundation:1563334645 Ectopic pregnancy added extrauterine gestation or pregnancy icd11.foundation:1563334645 icd11.foundation MONDO:0000755 ectopic pregnancy oio:hasExactSynonym ruptured ectopic pregnancy icd11.foundation:1563334645 Ectopic pregnancy added ruptured ectopic pregnancy icd11.foundation:1563334645 icd11.foundation MONDO:0000809 purpura fulminans oio:hasExactSynonym Purpura fulminans icd11.foundation:1293848111 Purpura fulminans added Purpura fulminans icd11.foundation:1293848111 icd11.foundation @@ -55119,11 +55119,11 @@ MONDO:0001134 essential hypertension oio:hasExactSynonym vascular HTN icd11.f MONDO:0001134 essential hypertension oio:hasExactSynonym vascular hypertension icd11.foundation:761947693 Essential hypertension added vascular hypertension icd11.foundation:761947693 icd11.foundation MONDO:0001137 Murray valley encephalitis oio:hasExactSynonym Australian arboencephalitis icd11.foundation:1040970454 Murray Valley encephalitis added Australian arboencephalitis icd11.foundation:1040970454 icd11.foundation MONDO:0001137 Murray valley encephalitis oio:hasExactSynonym Australian x disorder icd11.foundation:1040970454 Murray Valley encephalitis added Australian x disorder icd11.foundation:1040970454 icd11.foundation -MONDO:0001137 Murray valley encephalitis oio:hasExactSynonym MVE - [murray valley encephalitis] icd11.foundation:1040970454 Murray Valley encephalitis added MVE - [murray valley encephalitis] icd11.foundation:1040970454 icd11.foundation +MONDO:0001137 Murray valley encephalitis oio:hasExactSynonym MVE - [murray valley encephalitis] icd11.foundation:1040970454 Murray Valley encephalitis added MVE - [murray valley encephalitis] icd11.foundation:1040970454 icd11.foundation MONDO:0001137 Murray valley encephalitis oio:hasExactSynonym Murray Valley encephalitis icd11.foundation:1040970454 Murray Valley encephalitis added Murray Valley encephalitis icd11.foundation:1040970454 icd11.foundation MONDO:0001137 Murray valley encephalitis oio:hasExactSynonym encephalitis australia icd11.foundation:1040970454 Murray Valley encephalitis added encephalitis australia icd11.foundation:1040970454 icd11.foundation MONDO:0001137 Murray valley encephalitis oio:hasExactSynonym murray river encephalitis icd11.foundation:1040970454 Murray Valley encephalitis added murray river encephalitis icd11.foundation:1040970454 icd11.foundation -MONDO:0001137 Murray valley encephalitis oio:hasExactSynonym mve - icd11.foundation:1040970454 Murray Valley encephalitis added mve - icd11.foundation:1040970454 icd11.foundation +MONDO:0001137 Murray valley encephalitis oio:hasExactSynonym mve - icd11.foundation:1040970454 Murray Valley encephalitis added mve - icd11.foundation:1040970454 icd11.foundation MONDO:0001149 microcephaly oio:hasExactSynonym Micrencephalon icd11.foundation:179350437 Microcephaly added Micrencephalon icd11.foundation:179350437 icd11.foundation MONDO:0001149 microcephaly oio:hasExactSynonym Micrencephaly icd11.foundation:179350437 Microcephaly added Micrencephaly icd11.foundation:179350437 icd11.foundation MONDO:0001149 microcephaly oio:hasExactSynonym brain hypoplasia icd11.foundation:179350437 Microcephaly added brain hypoplasia icd11.foundation:179350437 icd11.foundation @@ -55164,9 +55164,9 @@ MONDO:0001170 hemiplegia oio:hasExactSynonym Hemiplegia icd11.foundation:1641 MONDO:0001173 acute salpingitis oio:hasExactSynonym Acute salpingitis icd11.foundation:1286268784 Acute salpingitis added Acute salpingitis icd11.foundation:1286268784 icd11.foundation MONDO:0001173 acute salpingitis oio:hasExactSynonym acute endosalpingitis icd11.foundation:1286268784 Acute salpingitis added acute endosalpingitis icd11.foundation:1286268784 icd11.foundation MONDO:0001175 immature cataract oio:hasExactSynonym Immature cataract icd11.foundation:1444156961 Immature cataract added Immature cataract icd11.foundation:1444156961 icd11.foundation -MONDO:0001180 bullous keratopathy oio:hasExactSynonym BK - [bullous keratopathy] icd11.foundation:1270454490 Bullous keratopathy added BK - [bullous keratopathy] icd11.foundation:1270454490 icd11.foundation +MONDO:0001180 bullous keratopathy oio:hasExactSynonym BK - [bullous keratopathy] icd11.foundation:1270454490 Bullous keratopathy added BK - [bullous keratopathy] icd11.foundation:1270454490 icd11.foundation MONDO:0001180 bullous keratopathy oio:hasExactSynonym Bullous keratopathy icd11.foundation:1270454490 Bullous keratopathy added Bullous keratopathy icd11.foundation:1270454490 icd11.foundation -MONDO:0001180 bullous keratopathy oio:hasExactSynonym bk - icd11.foundation:1270454490 Bullous keratopathy added bk - icd11.foundation:1270454490 icd11.foundation +MONDO:0001180 bullous keratopathy oio:hasExactSynonym bk - icd11.foundation:1270454490 Bullous keratopathy added bk - icd11.foundation:1270454490 icd11.foundation MONDO:0001185 dissociative amnesia oio:hasExactSynonym amnesia neurosis icd11.foundation:626975732 Dissociative amnesia added amnesia neurosis icd11.foundation:626975732 icd11.foundation MONDO:0001195 spotted fever oio:hasExactSynonym Tick-borne rickettsioses icd11.foundation:9953620 Spotted fever added Tick-borne rickettsioses icd11.foundation:9953620 icd11.foundation MONDO:0001195 spotted fever oio:hasExactSynonym Tick-borne typhus NOS icd11.foundation:9953620 Spotted fever added Tick-borne typhus NOS icd11.foundation:9953620 icd11.foundation @@ -55259,7 +55259,7 @@ MONDO:0001330 presbyopia oio:hasExactSynonym subnormal accommodation icd11.fo MONDO:0001332 palindromic rheumatism oio:hasExactSynonym Palindromic rheumatism icd11.foundation:494875651 Palindromic rheumatism added Palindromic rheumatism icd11.foundation:494875651 icd11.foundation MONDO:0001332 palindromic rheumatism oio:hasExactSynonym palindromic arthritis icd11.foundation:494875651 Palindromic rheumatism added palindromic arthritis icd11.foundation:494875651 icd11.foundation MONDO:0001334 hypertrichosis of eyelid oio:hasExactSynonym Hypertrichosis of eyelid icd11.foundation:1623148241 Hypertrichosis of eyelid added Hypertrichosis of eyelid icd11.foundation:1623148241 icd11.foundation -MONDO:0001339 portal vein thrombosis oio:hasExactSynonym PVT - [portal vein thrombosis] icd11.foundation:866276949 Portal vein thrombosis added PVT - [portal vein thrombosis] icd11.foundation:866276949 icd11.foundation +MONDO:0001339 portal vein thrombosis oio:hasExactSynonym PVT - [portal vein thrombosis] icd11.foundation:866276949 Portal vein thrombosis added PVT - [portal vein thrombosis] icd11.foundation:866276949 icd11.foundation MONDO:0001339 portal vein thrombosis oio:hasExactSynonym Phlebitis of portal vein icd11.foundation:866276949 Portal vein thrombosis added Phlebitis of portal vein icd11.foundation:866276949 icd11.foundation MONDO:0001339 portal vein thrombosis oio:hasExactSynonym Portal vein thrombosis icd11.foundation:866276949 Portal vein thrombosis added Portal vein thrombosis icd11.foundation:866276949 icd11.foundation MONDO:0001339 portal vein thrombosis oio:hasExactSynonym deep vein thrombosis of portal vein icd11.foundation:866276949 Portal vein thrombosis added deep vein thrombosis of portal vein icd11.foundation:866276949 icd11.foundation @@ -55821,10 +55821,10 @@ MONDO:0002492 acute kidney failure oio:hasExactSynonym arf - icd11.foundation MONDO:0002492 acute kidney failure oio:hasExactSynonym nontraumatic acute kidney injury icd11.foundation:476391827 Acute kidney failure added nontraumatic acute kidney injury icd11.foundation:476391827 icd11.foundation MONDO:0002523 cutaneous mucinosis oio:hasExactSynonym Cutaneous mucinosis icd11.foundation:2018255084 Cutaneous mucinosis added Cutaneous mucinosis icd11.foundation:2018255084 icd11.foundation MONDO:0002523 cutaneous mucinosis oio:hasExactSynonym Mucinosis of skin icd11.foundation:2018255084 Cutaneous mucinosis added Mucinosis of skin icd11.foundation:2018255084 icd11.foundation -MONDO:0002527 keratoacanthoma oio:hasExactSynonym KA - [keratoacanthoma] icd11.foundation:516478127 Keratoacanthoma added KA - [keratoacanthoma] icd11.foundation:516478127 icd11.foundation +MONDO:0002527 keratoacanthoma oio:hasExactSynonym KA - [keratoacanthoma] icd11.foundation:516478127 Keratoacanthoma added KA - [keratoacanthoma] icd11.foundation:516478127 icd11.foundation MONDO:0002527 keratoacanthoma oio:hasExactSynonym Keratoacanthoma icd11.foundation:516478127 Keratoacanthoma added Keratoacanthoma icd11.foundation:516478127 icd11.foundation MONDO:0002527 keratoacanthoma oio:hasExactSynonym Well-differentiated squamous cell carcinoma (keratoacanthoma type) icd11.foundation:516478127 Keratoacanthoma added Well-differentiated squamous cell carcinoma (keratoacanthoma type) icd11.foundation:516478127 icd11.foundation -MONDO:0002527 keratoacanthoma oio:hasExactSynonym ka - icd11.foundation:516478127 Keratoacanthoma added ka - icd11.foundation:516478127 icd11.foundation +MONDO:0002527 keratoacanthoma oio:hasExactSynonym ka - icd11.foundation:516478127 Keratoacanthoma added ka - icd11.foundation:516478127 icd11.foundation MONDO:0002527 keratoacanthoma oio:hasExactSynonym well-differentiated squamous cell carcinoma icd11.foundation:516478127 Keratoacanthoma added well-differentiated squamous cell carcinoma icd11.foundation:516478127 icd11.foundation MONDO:0002561 lysosomal storage disease oio:hasExactSynonym Lysosomal diseases icd11.foundation:656131403 Lysosomal diseases added Lysosomal diseases icd11.foundation:656131403 icd11.foundation MONDO:0002561 lysosomal storage disease oio:hasExactSynonym Lysosomal storage disorders icd11.foundation:656131403 Lysosomal diseases added Lysosomal storage disorders icd11.foundation:656131403 icd11.foundation @@ -55842,7 +55842,7 @@ MONDO:0002660 blepharochalasis oio:hasExactSynonym Dermatolysis palpebrarum i MONDO:0002660 blepharochalasis oio:hasExactSynonym adiposa ptosis icd11.foundation:583527617 Blepharochalasis added adiposa ptosis icd11.foundation:583527617 icd11.foundation MONDO:0002684 atypical choroid plexus papilloma oio:hasExactSynonym atypical choroid plexus papilloma (grade 2 lesion) icd11.foundation:1640044333 Atypical choroid plexus papilloma added atypical choroid plexus papilloma (grade 2 lesion) icd11.foundation:1640044333 icd11.foundation MONDO:0002735 anal canal adenocarcinoma oio:hasExactSynonym Adenocarcinoma of anus or anal canal icd11.foundation:168138050 Adenocarcinoma of anus or anal canal added Adenocarcinoma of anus or anal canal icd11.foundation:168138050 icd11.foundation -MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym SOM - [solitary osseous myeloma] disease icd11.foundation:246947217 Extramedullary plasmacytoma added SOM - [solitary osseous myeloma] disease icd11.foundation:246947217 icd11.foundation +MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym SOM - [solitary osseous myeloma] disease icd11.foundation:246947217 Extramedullary plasmacytoma added SOM - [solitary osseous myeloma] disease icd11.foundation:246947217 icd11.foundation MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extramedullary plasmacytoma NOS icd11.foundation:246947217 Extramedullary plasmacytoma added extramedullary plasmacytoma NOS icd11.foundation:246947217 icd11.foundation MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extramedullary plasmacytoma without mention of remission icd11.foundation:246947217 Extramedullary plasmacytoma added extramedullary plasmacytoma without mention of remission icd11.foundation:246947217 icd11.foundation MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym malignant plasma cell neoplasm icd11.foundation:246947217 Extramedullary plasmacytoma added malignant plasma cell neoplasm icd11.foundation:246947217 icd11.foundation @@ -55924,7 +55924,7 @@ MONDO:0003417 internuclear ophthalmoplegia oio:hasExactSynonym ophthalmoplegia MONDO:0003425 ophthalmoplegia oio:hasExactSynonym Ophthalmoplegia icd11.foundation:1848588735 Ophthalmoplegia added Ophthalmoplegia icd11.foundation:1848588735 icd11.foundation MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym Malignant dysgerminomatous germ cell tumour of ovary icd11.foundation:208782658 Dysgerminoma of ovary added Malignant dysgerminomatous germ cell tumour of ovary icd11.foundation:208782658 icd11.foundation MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym dysgerminoma, unspecified site, female icd11.foundation:208782658 Dysgerminoma of ovary added dysgerminoma, unspecified site, female icd11.foundation:208782658 icd11.foundation -MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym Malignant trophoblastic tumour of testis icd11.foundation:1972827817 Choriocarcinoma of testis added Malignant trophoblastic tumour of testis icd11.foundation:1972827817 icd11.foundation +MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym Malignant trophoblastic tumour of testis icd11.foundation:1972827817 Choriocarcinoma of testis added Malignant trophoblastic tumour of testis icd11.foundation:1972827817 icd11.foundation MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym choriocarcinoma of unspecified site, male icd11.foundation:1972827817 Choriocarcinoma of testis added choriocarcinoma of unspecified site, male icd11.foundation:1972827817 icd11.foundation MONDO:0003508 choriocarcinoma of testis oio:hasExactSynonym chorionic carcinoma of unspecified site, male icd11.foundation:1972827817 Choriocarcinoma of testis added chorionic carcinoma of unspecified site, male icd11.foundation:1972827817 icd11.foundation MONDO:0003528 Volkmann contracture oio:hasExactSynonym Volkmann contracture icd11.foundation:366740140 Volkmann contracture added Volkmann contracture icd11.foundation:366740140 icd11.foundation @@ -56088,7 +56088,7 @@ MONDO:0004668 fascioliasis oio:hasExactSynonym liver fluke infestation icd11. MONDO:0004668 fascioliasis oio:hasExactSynonym liver flukes NOS icd11.foundation:656408831 Fascioliasis added liver flukes NOS icd11.foundation:656408831 icd11.foundation MONDO:0004670 lupus erythematosus oio:hasExactSynonym LE - [lupus erythematosus] icd11.foundation:1443317238 Lupus erythematosus added LE - [lupus erythematosus] icd11.foundation:1443317238 icd11.foundation MONDO:0004670 lupus erythematosus oio:hasExactSynonym le - icd11.foundation:1443317238 Lupus erythematosus added le - icd11.foundation:1443317238 icd11.foundation -MONDO:0004672 fasciolopsiasis oio:hasExactSynonym Busk fluke infection icd11.foundation:830824191 Fasciolopsiasis added Busk fluke infection icd11.foundation:830824191 icd11.foundation +MONDO:0004672 fasciolopsiasis oio:hasExactSynonym Busk fluke infection icd11.foundation:830824191 Fasciolopsiasis added Busk fluke infection icd11.foundation:830824191 icd11.foundation MONDO:0004672 fasciolopsiasis oio:hasExactSynonym Fasciolopsiasis icd11.foundation:830824191 Fasciolopsiasis added Fasciolopsiasis icd11.foundation:830824191 icd11.foundation MONDO:0004672 fasciolopsiasis oio:hasExactSynonym fasciolopsis buski infection icd11.foundation:830824191 Fasciolopsiasis added fasciolopsis buski infection icd11.foundation:830824191 icd11.foundation MONDO:0004672 fasciolopsiasis oio:hasExactSynonym giant intestinal fluke infection icd11.foundation:830824191 Fasciolopsiasis added giant intestinal fluke infection icd11.foundation:830824191 icd11.foundation @@ -56348,7 +56348,7 @@ MONDO:0004981 atrial fibrillation oio:hasExactSynonym AFib - [atrial fibrillati MONDO:0004981 atrial fibrillation oio:hasExactSynonym a fib - icd11.foundation:171698302 Atrial fibrillation added a fib - icd11.foundation:171698302 icd11.foundation MONDO:0004981 atrial fibrillation oio:hasExactSynonym af - icd11.foundation:171698302 Atrial fibrillation added af - icd11.foundation:171698302 icd11.foundation MONDO:0004981 atrial fibrillation oio:hasExactSynonym afib - icd11.foundation:171698302 Atrial fibrillation added afib - icd11.foundation:171698302 icd11.foundation -MONDO:0004981 atrial fibrillation oio:hasExactSynonym rapid atrial fibrillation icd11.foundation:171698302 Atrial fibrillation added rapid atrial fibrillation icd11.foundation:171698302 icd11.foundation +MONDO:0004981 atrial fibrillation oio:hasExactSynonym rapid atrial fibrillation icd11.foundation:171698302 Atrial fibrillation added rapid atrial fibrillation icd11.foundation:171698302 icd11.foundation MONDO:0004994 cardiomyopathy oio:hasExactSynonym idiopathic cardiomyopathy icd11.foundation:282225286 Cardiomyopathy added idiopathic cardiomyopathy icd11.foundation:282225286 icd11.foundation MONDO:0004994 cardiomyopathy oio:hasExactSynonym idiopathic cardiopathy icd11.foundation:282225286 Cardiomyopathy added idiopathic cardiopathy icd11.foundation:282225286 icd11.foundation MONDO:0004994 cardiomyopathy oio:hasExactSynonym myocardiopathy icd11.foundation:282225286 Cardiomyopathy added myocardiopathy icd11.foundation:282225286 icd11.foundation @@ -56753,7 +56753,7 @@ MONDO:0005441 otitis media oio:hasExactSynonym inflammatory disorder of middle MONDO:0005441 otitis media oio:hasExactSynonym middle ear catarrh icd11.foundation:1079654421 Otitis media added middle ear catarrh icd11.foundation:1079654421 icd11.foundation MONDO:0005441 otitis media oio:hasExactSynonym middle ear infection icd11.foundation:1079654421 Otitis media added middle ear infection icd11.foundation:1079654421 icd11.foundation MONDO:0005441 otitis media oio:hasExactSynonym om - icd11.foundation:1079654421 Otitis media added om - icd11.foundation:1079654421 icd11.foundation -MONDO:0005441 otitis media oio:hasExactSynonym unspecified otitis media, unspecified ear icd11.foundation:1079654421 Otitis media added unspecified otitis media, unspecified ear icd11.foundation:1079654421 icd11.foundation +MONDO:0005441 otitis media oio:hasExactSynonym unspecified otitis media, unspecified ear icd11.foundation:1079654421 Otitis media added unspecified otitis media, unspecified ear icd11.foundation:1079654421 icd11.foundation MONDO:0005445 visceral leishmaniasis oio:hasExactSynonym Burdwan fever icd11.foundation:1646564717 Visceral leishmaniasis added Burdwan fever icd11.foundation:1646564717 icd11.foundation MONDO:0005445 visceral leishmaniasis oio:hasExactSynonym Dumdum fever icd11.foundation:1646564717 Visceral leishmaniasis added Dumdum fever icd11.foundation:1646564717 icd11.foundation MONDO:0005445 visceral leishmaniasis oio:hasExactSynonym Indian visceral leishmaniasis icd11.foundation:1646564717 Visceral leishmaniasis added Indian visceral leishmaniasis icd11.foundation:1646564717 icd11.foundation @@ -56982,7 +56982,7 @@ MONDO:0005736 eastern equine encephalitis oio:hasExactSynonym Eastern equine en MONDO:0005736 eastern equine encephalitis oio:hasExactSynonym eastern equine encephalitis virus infection icd11.foundation:682536148 Eastern equine encephalitis added eastern equine encephalitis virus infection icd11.foundation:682536148 icd11.foundation MONDO:0005736 eastern equine encephalitis oio:hasExactSynonym eee - icd11.foundation:682536148 Eastern equine encephalitis added eee - icd11.foundation:682536148 icd11.foundation MONDO:0005736 eastern equine encephalitis oio:hasExactSynonym neuroinvasive eastern equine encephalitis virus disease icd11.foundation:682536148 Eastern equine encephalitis added neuroinvasive eastern equine encephalitis virus disease icd11.foundation:682536148 icd11.foundation -MONDO:0005737 Ebola hemorrhagic fever oio:hasExactSynonym EVD - [Ebola virus disease] icd11.foundation:792755706 Ebola virus disease added EVD - [Ebola virus disease] icd11.foundation:792755706 icd11.foundation +MONDO:0005737 Ebola hemorrhagic fever oio:hasExactSynonym EVD - [Ebola virus disease] icd11.foundation:792755706 Ebola virus disease added EVD - [Ebola virus disease] icd11.foundation:792755706 icd11.foundation MONDO:0005737 Ebola hemorrhagic fever oio:hasExactSynonym Ebola virus haemorrhagic fever icd11.foundation:792755706 Ebola virus disease added Ebola virus haemorrhagic fever icd11.foundation:792755706 icd11.foundation MONDO:0005737 Ebola hemorrhagic fever oio:hasExactSynonym evd - icd11.foundation:792755706 Ebola virus disease added evd - icd11.foundation:792755706 icd11.foundation MONDO:0005738 echinococcosis oio:hasExactSynonym Cystic echinococcosis icd11.foundation:1456802165 Echinococcosis added Cystic echinococcosis icd11.foundation:1456802165 icd11.foundation @@ -57574,11 +57574,11 @@ MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma NOS icd11.f MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma disease icd11.foundation:1988933820 Myeloid sarcoma added myeloid sarcoma disease icd11.foundation:1988933820 icd11.foundation MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma without mention of remission icd11.foundation:1988933820 Myeloid sarcoma added myeloid sarcoma without mention of remission icd11.foundation:1988933820 icd11.foundation MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myelosarcoma icd11.foundation:1988933820 Myeloid sarcoma added myelosarcoma icd11.foundation:1988933820 icd11.foundation -MONDO:0006875 ocular hypertension oio:hasExactSynonym OH - [ocular hypertension] icd11.foundation:535283437 Ocular hypertension added OH - [ocular hypertension] icd11.foundation:535283437 icd11.foundation +MONDO:0006875 ocular hypertension oio:hasExactSynonym OH - [ocular hypertension] icd11.foundation:535283437 Ocular hypertension added OH - [ocular hypertension] icd11.foundation:535283437 icd11.foundation MONDO:0006875 ocular hypertension oio:hasExactSynonym OHT - [ocular hypertension] icd11.foundation:535283437 Ocular hypertension added OHT - [ocular hypertension] icd11.foundation:535283437 icd11.foundation MONDO:0006875 ocular hypertension oio:hasExactSynonym Ocular hypertension icd11.foundation:535283437 Ocular hypertension added Ocular hypertension icd11.foundation:535283437 icd11.foundation MONDO:0006875 ocular hypertension oio:hasExactSynonym intraocular pressure increase icd11.foundation:535283437 Ocular hypertension added intraocular pressure increase icd11.foundation:535283437 icd11.foundation -MONDO:0006875 ocular hypertension oio:hasExactSynonym oh - icd11.foundation:535283437 Ocular hypertension added oh - icd11.foundation:535283437 icd11.foundation +MONDO:0006875 ocular hypertension oio:hasExactSynonym oh - icd11.foundation:535283437 Ocular hypertension added oh - icd11.foundation:535283437 icd11.foundation MONDO:0006875 ocular hypertension oio:hasExactSynonym oht - icd11.foundation:535283437 Ocular hypertension added oht - icd11.foundation:535283437 icd11.foundation MONDO:0006881 orbital cellulitis oio:hasExactSynonym cellulitis of orbit icd11.foundation:1330743591 Orbital cellulitis added cellulitis of orbit icd11.foundation:1330743591 icd11.foundation MONDO:0006884 panophthalmitis oio:hasExactSynonym Acute panophthalmitis icd11.foundation:349386559 Panophthalmitis added Acute panophthalmitis icd11.foundation:349386559 icd11.foundation @@ -57669,7 +57669,7 @@ MONDO:0007028 rotator cuff syndrome oio:hasExactSynonym rotator cuff rupture MONDO:0007028 rotator cuff syndrome oio:hasExactSynonym rotator cuff syndrome NOS icd11.foundation:1471943310 Rotator cuff syndrome added rotator cuff syndrome NOS icd11.foundation:1471943310 icd11.foundation MONDO:0007028 rotator cuff syndrome oio:hasExactSynonym rupture of rotator cuff of shoulder icd11.foundation:1471943310 Rotator cuff syndrome added rupture of rotator cuff of shoulder icd11.foundation:1471943310 icd11.foundation MONDO:0007028 rotator cuff syndrome oio:hasExactSynonym spontaneous rupture of rotator cuff tendon icd11.foundation:1471943310 Rotator cuff syndrome added spontaneous rupture of rotator cuff tendon icd11.foundation:1471943310 icd11.foundation -MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym BOR - [Branchio-oto-renal] syndrome icd11.foundation:504227287 Branchio-oto-renal syndrome added BOR - [Branchio-oto-renal] syndrome icd11.foundation:504227287 icd11.foundation +MONDO:0007029 branchio-oto-renal syndrome oio:hasExactSynonym BOR - [Branchio-oto-renal] syndrome icd11.foundation:504227287 Branchio-oto-renal syndrome added BOR - [Branchio-oto-renal] syndrome icd11.foundation:504227287 icd11.foundation MONDO:0007031 familial abdominal aortic aneurysm oio:hasExactSynonym Familial abdominal aortic aneurysm icd11.foundation:556590106 Familial abdominal aortic aneurysm added Familial abdominal aortic aneurysm icd11.foundation:556590106 icd11.foundation MONDO:0007032 prune belly syndrome oio:hasExactSynonym abdomen muscle deficiency syndrome icd11.foundation:1393408621 Prune belly syndrome added abdomen muscle deficiency syndrome icd11.foundation:1393408621 icd11.foundation MONDO:0007032 prune belly syndrome oio:hasExactSynonym abdomen muscular deficiency syndrome icd11.foundation:1393408621 Prune belly syndrome added abdomen muscular deficiency syndrome icd11.foundation:1393408621 icd11.foundation @@ -57681,7 +57681,7 @@ MONDO:0007037 Achondroplasia oio:hasExactSynonym achondroplastic short stature MONDO:0007037 Achondroplasia oio:hasExactSynonym congenital osteosclerosis icd11.foundation:24224082 Achondroplasia added congenital osteosclerosis icd11.foundation:24224082 icd11.foundation MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym Familial acoustic neuroma icd11.foundation:14808714 Neurofibromatosis type 2 added Familial acoustic neuroma icd11.foundation:14808714 icd11.foundation MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym Familial vestibular schwannoma icd11.foundation:14808714 Neurofibromatosis type 2 added Familial vestibular schwannoma icd11.foundation:14808714 icd11.foundation -MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym NF2 - [Neurofibromatosis type 2] (MIM 101000) icd11.foundation:14808714 Neurofibromatosis type 2 added NF2 - [Neurofibromatosis type 2] (MIM 101000) icd11.foundation:14808714 icd11.foundation +MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym NF2 - [Neurofibromatosis type 2] (MIM 101000) icd11.foundation:14808714 Neurofibromatosis type 2 added NF2 - [Neurofibromatosis type 2] (MIM 101000) icd11.foundation:14808714 icd11.foundation MONDO:0007039 NF2-related schwannomatosis oio:hasExactSynonym nf2 - icd11.foundation:14808714 Neurofibromatosis type 2 added nf2 - icd11.foundation:14808714 icd11.foundation MONDO:0007068 adenylosuccinate lyase deficiency oio:hasExactSynonym ADSL - [Adenylosuccinate lyase] deficiency icd11.foundation:1725611919 Adenylosuccinate lyase deficiency added ADSL - [Adenylosuccinate lyase] deficiency icd11.foundation:1725611919 icd11.foundation MONDO:0007072 ADULT syndrome oio:hasExactSynonym Pigment anomaly - ectrodactyly - hypodontia icd11.foundation:1445741645 ADULT syndrome added Pigment anomaly - ectrodactyly - hypodontia icd11.foundation:1445741645 icd11.foundation @@ -58377,7 +58377,7 @@ MONDO:0009044 Crigler-Najjar syndrome oio:hasExactSynonym glucuronyl transferas MONDO:0009044 Crigler-Najjar syndrome oio:hasExactSynonym glucuronyltransferase deficiency icd11.foundation:291439191 Crigler-Najjar syndrome added glucuronyltransferase deficiency icd11.foundation:291439191 icd11.foundation MONDO:0009044 Crigler-Najjar syndrome oio:hasExactSynonym udp glucuronyl transferase deficiency icd11.foundation:291439191 Crigler-Najjar syndrome added udp glucuronyl transferase deficiency icd11.foundation:291439191 icd11.foundation MONDO:0009047 cryptorchidism oio:hasExactSynonym Retained testis icd11.foundation:1134950387 Cryptorchidism added Retained testis icd11.foundation:1134950387 icd11.foundation -MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym ACTH- [adrenocorticotropic hormone] secreting pituitary adenoma icd11.foundation:380861892 Pituitary-dependent Cushing disease added ACTH- [adrenocorticotropic hormone] secreting pituitary adenoma icd11.foundation:380861892 icd11.foundation +MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym ACTH- [adrenocorticotropic hormone] secreting pituitary adenoma icd11.foundation:380861892 Pituitary-dependent Cushing disease added ACTH- [adrenocorticotropic hormone] secreting pituitary adenoma icd11.foundation:380861892 icd11.foundation MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym Cushing syndrome or disease, pituitary-dependent icd11.foundation:380861892 Pituitary-dependent Cushing disease added Cushing syndrome or disease, pituitary-dependent icd11.foundation:380861892 icd11.foundation MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym Cushing's syndrome 3 icd11.foundation:380861892 Pituitary-dependent Cushing disease added Cushing's syndrome 3 icd11.foundation:380861892 icd11.foundation MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym Cushings basophilism icd11.foundation:380861892 Pituitary-dependent Cushing disease added Cushings basophilism icd11.foundation:380861892 icd11.foundation @@ -58394,7 +58394,7 @@ MONDO:0009055 cutis marmorata telangiectatica congenita oio:hasExactSynonym CMT MONDO:0009055 cutis marmorata telangiectatica congenita oio:hasExactSynonym Congenital phlebectasia icd11.foundation:1359154853 Cutis marmorata telangiectatica congenita added Congenital phlebectasia icd11.foundation:1359154853 icd11.foundation MONDO:0009055 cutis marmorata telangiectatica congenita oio:hasExactSynonym Reticulate vascular naevus icd11.foundation:1359154853 Cutis marmorata telangiectatica congenita added Reticulate vascular naevus icd11.foundation:1359154853 icd11.foundation MONDO:0009055 cutis marmorata telangiectatica congenita oio:hasExactSynonym cmtc - icd11.foundation:1359154853 Cutis marmorata telangiectatica congenita added cmtc - icd11.foundation:1359154853 icd11.foundation -MONDO:0009058 cystathioninuria oio:hasExactSynonym CTH - [cystathioninuria] icd11.foundation:1415819835 Cystathioninuria added CTH - [cystathioninuria] icd11.foundation:1415819835 icd11.foundation +MONDO:0009058 cystathioninuria oio:hasExactSynonym CTH - [cystathioninuria] icd11.foundation:1415819835 Cystathioninuria added CTH - [cystathioninuria] icd11.foundation:1415819835 icd11.foundation MONDO:0009058 cystathioninuria oio:hasExactSynonym Cystathione gamma-lyase deficiency icd11.foundation:1415819835 Cystathioninuria added Cystathione gamma-lyase deficiency icd11.foundation:1415819835 icd11.foundation MONDO:0009058 cystathioninuria oio:hasExactSynonym cth - icd11.foundation:1415819835 Cystathioninuria added cth - icd11.foundation:1415819835 icd11.foundation MONDO:0009058 cystathioninuria oio:hasExactSynonym cystathionine metabolic disorder icd11.foundation:1415819835 Cystathioninuria added cystathionine metabolic disorder icd11.foundation:1415819835 icd11.foundation @@ -58468,7 +58468,7 @@ MONDO:0009174 protein-losing enteropathy oio:hasExactSynonym ple - icd11.foun MONDO:0009175 eosinophilic fasciitis oio:hasExactSynonym Diffuse eosinophilic fasciitis icd11.foundation:1977389237 Diffuse eosinophilic fasciitis added Diffuse eosinophilic fasciitis icd11.foundation:1977389237 icd11.foundation MONDO:0009175 eosinophilic fasciitis oio:hasExactSynonym Diffuse fasciitis icd11.foundation:1977389237 Diffuse eosinophilic fasciitis added Diffuse fasciitis icd11.foundation:1977389237 icd11.foundation MONDO:0009175 eosinophilic fasciitis oio:hasExactSynonym Fasciitis with eosinophilia syndrome icd11.foundation:1977389237 Diffuse eosinophilic fasciitis added Fasciitis with eosinophilia syndrome icd11.foundation:1977389237 icd11.foundation -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia oio:hasExactSynonym JEB - [junctional epidermolysis bullosa] with pyloric atresia icd11.foundation:1877890811 Junctional epidermolysis bullosa with pyloric atresia added JEB - [junctional epidermolysis bullosa] with pyloric atresia icd11.foundation:1877890811 icd11.foundation +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia oio:hasExactSynonym JEB - [junctional epidermolysis bullosa] with pyloric atresia icd11.foundation:1877890811 Junctional epidermolysis bullosa with pyloric atresia added JEB - [junctional epidermolysis bullosa] with pyloric atresia icd11.foundation:1877890811 icd11.foundation MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia oio:hasExactSynonym JEB-PA - [junctional epidermolysis bullosa with pyloric atresia] icd11.foundation:1877890811 Junctional epidermolysis bullosa with pyloric atresia added JEB-PA - [junctional epidermolysis bullosa with pyloric atresia] icd11.foundation:1877890811 icd11.foundation MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia oio:hasExactSynonym jeb-pa - icd11.foundation:1877890811 Junctional epidermolysis bullosa with pyloric atresia added jeb-pa - icd11.foundation:1877890811 icd11.foundation MONDO:0009189 multiple epiphyseal dysplasia type 4 oio:hasExactSynonym Multiple epiphyseal dysplasia type 4 icd11.foundation:1927114777 Multiple epiphyseal dysplasia type 4 added Multiple epiphyseal dysplasia type 4 icd11.foundation:1927114777 icd11.foundation @@ -58563,7 +58563,7 @@ MONDO:0009387 familial lipoprotein lipase deficiency oio:hasExactSynonym Famili MONDO:0009394 juvenile Paget disease oio:hasExactSynonym juvenile osteitis deformans icd11.foundation:762002965 Juvenile Paget disease added juvenile osteitis deformans icd11.foundation:762002965 icd11.foundation MONDO:0009397 neonatal severe primary hyperparathyroidism oio:hasExactSynonym Neonatal severe primary hyperparathyroidism icd11.foundation:1929875111 Neonatal severe primary hyperparathyroidism added Neonatal severe primary hyperparathyroidism icd11.foundation:1929875111 icd11.foundation MONDO:0009419 Woodhouse-Sakati syndrome oio:hasExactSynonym Diabetes - hypogonadism - deafness - intellectual deficit icd11.foundation:1893572805 Woodhouse-Sakati syndrome added Diabetes - hypogonadism - deafness - intellectual deficit icd11.foundation:1893572805 icd11.foundation -MONDO:0009437 Bamforth-Lazarus syndrome oio:hasExactSynonym Athydroidal hypothyroidism spiky hair cleft palate icd11.foundation:1747690671 Bamforth-Lazarus syndrome added Athydroidal hypothyroidism spiky hair cleft palate icd11.foundation:1747690671 icd11.foundation +MONDO:0009437 Bamforth-Lazarus syndrome oio:hasExactSynonym Athydroidal hypothyroidism spiky hair cleft palate icd11.foundation:1747690671 Bamforth-Lazarus syndrome added Athydroidal hypothyroidism spiky hair cleft palate icd11.foundation:1747690671 icd11.foundation MONDO:0009437 Bamforth-Lazarus syndrome oio:hasExactSynonym Hypothyroidism - cleft palate icd11.foundation:1747690671 Bamforth-Lazarus syndrome added Hypothyroidism - cleft palate icd11.foundation:1747690671 icd11.foundation MONDO:0009451 Nezelof syndrome oio:hasExactSynonym Congenital thymic dysplasia syndrome icd11.foundation:215376282 Nezelof syndrome added Congenital thymic dysplasia syndrome icd11.foundation:215376282 icd11.foundation MONDO:0009476 atresia of small intestine oio:hasExactSynonym Atresia of small intestine icd11.foundation:1949256262 Atresia of small intestine added Atresia of small intestine icd11.foundation:1949256262 icd11.foundation @@ -58583,7 +58583,7 @@ MONDO:0009530 lipoid proteinosis oio:hasExactSynonym Urbach lipoid proteinosis MONDO:0009530 lipoid proteinosis oio:hasExactSynonym lipidosis cutis et mucosae icd11.foundation:326368380 Lipoid proteinosis added lipidosis cutis et mucosae icd11.foundation:326368380 icd11.foundation MONDO:0009533 Dahlberg-Borer-Newcomer syndrome oio:hasExactSynonym Dahlberg-Borer-Newcomer syndrome icd11.foundation:1407652122 Dahlberg-Borer-Newcomer syndrome added Dahlberg-Borer-Newcomer syndrome icd11.foundation:1407652122 icd11.foundation MONDO:0009533 Dahlberg-Borer-Newcomer syndrome oio:hasExactSynonym Lymphoedema - hypoparathyroidism icd11.foundation:1407652122 Dahlberg-Borer-Newcomer syndrome added Lymphoedema - hypoparathyroidism icd11.foundation:1407652122 icd11.foundation -MONDO:0009552 mal de Meleda oio:hasExactSynonym Meleda disease (OMIM #248300) icd11.foundation:1850911834 Mal de Meleda added Meleda disease (OMIM #248300) icd11.foundation:1850911834 icd11.foundation +MONDO:0009552 mal de Meleda oio:hasExactSynonym Meleda disease (OMIM #248300) icd11.foundation:1850911834 Mal de Meleda added Meleda disease (OMIM #248300) icd11.foundation:1850911834 icd11.foundation MONDO:0009563 maple syrup urine disease oio:hasExactSynonym BCKD - [branched-chain alpha-ketoacid dehydrogenase deficiency] icd11.foundation:1623706568 Maple-syrup-urine disease added BCKD - [branched-chain alpha-ketoacid dehydrogenase deficiency] icd11.foundation:1623706568 icd11.foundation MONDO:0009563 maple syrup urine disease oio:hasExactSynonym Ketoacid decarboxylase deficiency icd11.foundation:1623706568 Maple-syrup-urine disease added Ketoacid decarboxylase deficiency icd11.foundation:1623706568 icd11.foundation MONDO:0009563 maple syrup urine disease oio:hasExactSynonym Ketoaminoacidaemia icd11.foundation:1623706568 Maple-syrup-urine disease added Ketoaminoacidaemia icd11.foundation:1623706568 icd11.foundation @@ -58750,7 +58750,7 @@ MONDO:0009940 pycnodysostosis oio:hasExactSynonym Cathepsin K deficiency icd1 MONDO:0009943 Pyle disease oio:hasExactSynonym Pyle syndrome icd11.foundation:651364947 Pyle disease added Pyle syndrome icd11.foundation:651364947 icd11.foundation MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym Glutathione synthetase deficiency with 5-oxoprolinuria icd11.foundation:2005562438 Glutathione synthetase deficiency with 5-oxoprolinuria added Glutathione synthetase deficiency with 5-oxoprolinuria icd11.foundation:2005562438 icd11.foundation MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria oio:hasExactSynonym Pyroglutamic acidaemia icd11.foundation:2005562438 Glutathione synthetase deficiency with 5-oxoprolinuria added Pyroglutamic acidaemia icd11.foundation:2005562438 icd11.foundation -MONDO:0009954 Ramon syndrome oio:hasExactSynonym Cherubism gingival fibromatosis epilepsy mental deficiency hypertrichosis stunted growth (Ramon) syndrome icd11.foundation:122538435 Ramon syndrome added Cherubism gingival fibromatosis epilepsy mental deficiency hypertrichosis stunted growth (Ramon) syndrome icd11.foundation:122538435 icd11.foundation +MONDO:0009954 Ramon syndrome oio:hasExactSynonym Cherubism gingival fibromatosis epilepsy mental deficiency hypertrichosis stunted growth (Ramon) syndrome icd11.foundation:122538435 Ramon syndrome added Cherubism gingival fibromatosis epilepsy mental deficiency hypertrichosis stunted growth (Ramon) syndrome icd11.foundation:122538435 icd11.foundation MONDO:0009965 Perlman syndrome oio:hasExactSynonym Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumour icd11.foundation:795682441 Perlman syndrome added Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumour icd11.foundation:795682441 icd11.foundation MONDO:0009971 respiratory distress syndrome in premature infants oio:hasExactSynonym RDS - [respiratory distress syndrome] of newborn icd11.foundation:343716587 Respiratory distress syndrome of newborn added RDS - [respiratory distress syndrome] of newborn icd11.foundation:343716587 icd11.foundation MONDO:0009971 respiratory distress syndrome in premature infants oio:hasExactSynonym Respiratory distress syndrome of newborn icd11.foundation:343716587 Respiratory distress syndrome of newborn added Respiratory distress syndrome of newborn icd11.foundation:343716587 icd11.foundation @@ -58852,7 +58852,7 @@ MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type oio:hasExactSynon MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym HPRT - [ hypoxanthine-guanine phosphoribosyltransferase] complete deficiency icd11.foundation:1886495906 Lesch-Nyhan syndrome added HPRT - [ hypoxanthine-guanine phosphoribosyltransferase] complete deficiency icd11.foundation:1886495906 icd11.foundation MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym Lesch-Nyhan disease icd11.foundation:1886495906 Lesch-Nyhan syndrome added Lesch-Nyhan disease icd11.foundation:1886495906 icd11.foundation MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym choreoathetosis self-mutilation syndrome icd11.foundation:1886495906 Lesch-Nyhan syndrome added choreoathetosis self-mutilation syndrome icd11.foundation:1886495906 icd11.foundation -MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym total HGPRT - [hypoxanthine-guanine phosphoribosyltransferase] deficiency icd11.foundation:1886495906 Lesch-Nyhan syndrome added total HGPRT - [hypoxanthine-guanine phosphoribosyltransferase] deficiency icd11.foundation:1886495906 icd11.foundation +MONDO:0010298 Lesch-Nyhan syndrome oio:hasExactSynonym total HGPRT - [hypoxanthine-guanine phosphoribosyltransferase] deficiency icd11.foundation:1886495906 Lesch-Nyhan syndrome added total HGPRT - [hypoxanthine-guanine phosphoribosyltransferase] deficiency icd11.foundation:1886495906 icd11.foundation MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym BMD - [Becker muscular dystrophy] icd11.foundation:690532643 Becker muscular dystrophy added BMD - [Becker muscular dystrophy] icd11.foundation:690532643 icd11.foundation MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker dystrophy icd11.foundation:690532643 Becker muscular dystrophy added Becker dystrophy icd11.foundation:690532643 icd11.foundation MONDO:0010311 Becker muscular dystrophy oio:hasExactSynonym Becker type dystrophy icd11.foundation:690532643 Becker muscular dystrophy added Becker type dystrophy icd11.foundation:690532643 icd11.foundation @@ -58898,7 +58898,7 @@ MONDO:0010602 hemophilia A oio:hasExactSynonym sex-linked factor VIII deficienc MONDO:0010602 hemophilia A oio:hasExactSynonym subhaemophilia icd11.foundation:337607970 Haemophilia A added subhaemophilia icd11.foundation:337607970 icd11.foundation MONDO:0010604 hemophilia B oio:hasExactSynonym Haemophilia B icd11.foundation:1901375668 Haemophilia B added Haemophilia B icd11.foundation:1901375668 icd11.foundation MONDO:0010604 hemophilia B oio:hasExactSynonym PTC - [plasma thromboplastin component] deficiency icd11.foundation:1901375668 Haemophilia B added PTC - [plasma thromboplastin component] deficiency icd11.foundation:1901375668 icd11.foundation -MONDO:0010604 hemophilia B oio:hasExactSynonym deficiency of functional factor ix icd11.foundation:1901375668 Haemophilia B added deficiency of functional factor ix icd11.foundation:1901375668 icd11.foundation +MONDO:0010604 hemophilia B oio:hasExactSynonym deficiency of functional factor ix icd11.foundation:1901375668 Haemophilia B added deficiency of functional factor ix icd11.foundation:1901375668 icd11.foundation MONDO:0010604 hemophilia B oio:hasExactSynonym functional factor IX deficiency icd11.foundation:1901375668 Haemophilia B added functional factor IX deficiency icd11.foundation:1901375668 icd11.foundation MONDO:0010604 hemophilia B oio:hasExactSynonym sex-linked factor IX deficiency disease icd11.foundation:1901375668 Haemophilia B added sex-linked factor IX deficiency disease icd11.foundation:1901375668 icd11.foundation MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius oio:hasExactSynonym Atresia of the aqueduct of Sylvius icd11.foundation:1284135636 Hydrocephalus with stenosis of the aqueduct of Sylvius added Atresia of the aqueduct of Sylvius icd11.foundation:1284135636 icd11.foundation @@ -59007,7 +59007,7 @@ MONDO:0010913 Caroli disease oio:hasExactSynonym Caroli disease icd11.foundat MONDO:0010913 Caroli disease oio:hasExactSynonym Cystic dilatation of intrahepatic bile ducts icd11.foundation:1757434239 Caroli disease added Cystic dilatation of intrahepatic bile ducts icd11.foundation:1757434239 icd11.foundation MONDO:0010920 microtia oio:hasExactSynonym Microtia icd11.foundation:2005415414 Microtia added Microtia icd11.foundation:2005415414 icd11.foundation MONDO:0010920 microtia oio:hasExactSynonym congenital small ears icd11.foundation:2005415414 Microtia added congenital small ears icd11.foundation:2005415414 icd11.foundation -MONDO:0010920 microtia oio:hasExactSynonym hypoplasia of ear icd11.foundation:2005415414 Microtia added hypoplasia of ear icd11.foundation:2005415414 icd11.foundation +MONDO:0010920 microtia oio:hasExactSynonym hypoplasia of ear icd11.foundation:2005415414 Microtia added hypoplasia of ear icd11.foundation:2005415414 icd11.foundation MONDO:0010924 D-2-hydroxyglutaric aciduria oio:hasExactSynonym D-2-hydroxyglutaric aciduria icd11.foundation:1170122566 D-2-hydroxyglutaric aciduria added D-2-hydroxyglutaric aciduria icd11.foundation:1170122566 icd11.foundation MONDO:0010939 low phospholipid associated cholelithiasis oio:hasExactSynonym Low phospholipid associated cholelithiasis icd11.foundation:1261516421 Low phospholipid associated cholelithiasis added Low phospholipid associated cholelithiasis icd11.foundation:1261516421 icd11.foundation MONDO:0010947 Budd-Chiari syndrome oio:hasExactSynonym Chiari syndrome icd11.foundation:1300118676 Budd-Chiari syndrome added Chiari syndrome icd11.foundation:1300118676 icd11.foundation @@ -59099,7 +59099,7 @@ MONDO:0011664 immunodeficiency due to CD25 deficiency oio:hasExactSynonym SCID MONDO:0011669 hypotonia-cystinuria syndrome oio:hasExactSynonym HCS - [Hypotonia-cystinuria syndrome] icd11.foundation:1742079513 Hypotonia-cystinuria syndrome added HCS - [Hypotonia-cystinuria syndrome] icd11.foundation:1742079513 icd11.foundation MONDO:0011669 hypotonia-cystinuria syndrome oio:hasExactSynonym hcs - icd11.foundation:1742079513 Hypotonia-cystinuria syndrome added hcs - icd11.foundation:1742079513 icd11.foundation MONDO:0011669 hypotonia-cystinuria syndrome oio:hasExactSynonym Hypotonia-cystinuria type 1 icd11.foundation:1852649756 Hypotonia-cystinuria type 1 added Hypotonia-cystinuria type 1 icd11.foundation:1852649756 icd11.foundation -MONDO:0011676 PHACE syndrome oio:hasExactSynonym PHACE - [posterior fossa malformations haemangiomas arterial anomalies cardiac defects eye abnormalities sternal cleft supraumbilical raphe] syndrome icd11.foundation:1825849023 PHACE syndrome added PHACE - [posterior fossa malformations haemangiomas arterial anomalies cardiac defects eye abnormalities sternal cleft supraumbilical raphe] syndrome icd11.foundation:1825849023 icd11.foundation +MONDO:0011676 PHACE syndrome oio:hasExactSynonym PHACE - [posterior fossa malformations haemangiomas arterial anomalies cardiac defects eye abnormalities sternal cleft supraumbilical raphe] syndrome icd11.foundation:1825849023 PHACE syndrome added PHACE - [posterior fossa malformations haemangiomas arterial anomalies cardiac defects eye abnormalities sternal cleft supraumbilical raphe] syndrome icd11.foundation:1825849023 icd11.foundation MONDO:0011676 PHACE syndrome oio:hasExactSynonym PHACE syndrome icd11.foundation:1825849023 PHACE syndrome added PHACE syndrome icd11.foundation:1825849023 icd11.foundation MONDO:0011681 episodic ataxia type 4 oio:hasExactSynonym Episodic ataxia type 4 icd11.foundation:1119711189 Episodic ataxia type 4 added Episodic ataxia type 4 icd11.foundation:1119711189 icd11.foundation MONDO:0011683 oculocutaneous albinism type 4 oio:hasExactSynonym OCA4 - [Oculocutaneous albinism type 4] icd11.foundation:1286886811 Oculocutaneous albinism type 4 added OCA4 - [Oculocutaneous albinism type 4] icd11.foundation:1286886811 icd11.foundation @@ -59203,7 +59203,7 @@ MONDO:0012204 familial pseudohyperkalemia oio:hasExactSynonym Hereditary pseudo MONDO:0012208 congenital reticular ichthyosiform erythroderma oio:hasExactSynonym CRIE - [congenital reticular ichthyosiform erythroderma] icd11.foundation:565254051 Congenital reticular ichthyosiform erythroderma added CRIE - [congenital reticular ichthyosiform erythroderma] icd11.foundation:565254051 icd11.foundation MONDO:0012208 congenital reticular ichthyosiform erythroderma oio:hasExactSynonym Congenital reticular ichthyosiform erythroderma icd11.foundation:565254051 Congenital reticular ichthyosiform erythroderma added Congenital reticular ichthyosiform erythroderma icd11.foundation:565254051 icd11.foundation MONDO:0012208 congenital reticular ichthyosiform erythroderma oio:hasExactSynonym crie - icd11.foundation:565254051 Congenital reticular ichthyosiform erythroderma added crie - icd11.foundation:565254051 icd11.foundation -MONDO:0012220 Griscelli syndrome type 3 oio:hasExactSynonym GS3 - [Griscelli syndrome type 3] (MIM 609227) icd11.foundation:1959052636 Griscelli syndrome type 3 added GS3 - [Griscelli syndrome type 3] (MIM 609227) icd11.foundation:1959052636 icd11.foundation +MONDO:0012220 Griscelli syndrome type 3 oio:hasExactSynonym GS3 - [Griscelli syndrome type 3] (MIM 609227) icd11.foundation:1959052636 Griscelli syndrome type 3 added GS3 - [Griscelli syndrome type 3] (MIM 609227) icd11.foundation:1959052636 icd11.foundation MONDO:0012220 Griscelli syndrome type 3 oio:hasExactSynonym gs3 - icd11.foundation:1959052636 Griscelli syndrome type 3 added gs3 - icd11.foundation:1959052636 icd11.foundation MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 oio:hasExactSynonym Alpha-N-acetylgalactosaminidase deficiency type 1 icd11.foundation:1058486825 Alpha-N-acetylgalactosaminidase deficiency type 1 added Alpha-N-acetylgalactosaminidase deficiency type 1 icd11.foundation:1058486825 icd11.foundation MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 oio:hasExactSynonym NAGA deficiency type 1 - [Alpha-N-acetylgalactosaminidase deficiency type 1] icd11.foundation:1058486825 Alpha-N-acetylgalactosaminidase deficiency type 1 added NAGA deficiency type 1 - [Alpha-N-acetylgalactosaminidase deficiency type 1] icd11.foundation:1058486825 icd11.foundation @@ -59225,7 +59225,7 @@ MONDO:0012328 trichilemmal cyst oio:hasExactSynonym Trichilemmal cyst icd11.f MONDO:0012328 trichilemmal cyst oio:hasExactSynonym Wen icd11.foundation:150930710 Trichilemmal cyst added Wen icd11.foundation:150930710 icd11.foundation MONDO:0012330 talo-patello-scaphoid osteolysis oio:hasExactSynonym Talo-patello-scaphoid osteolysis icd11.foundation:1276091756 Talo-patello-scaphoid osteolysis added Talo-patello-scaphoid osteolysis icd11.foundation:1276091756 icd11.foundation MONDO:0012335 obesity due to pro-opiomelanocortin deficiency oio:hasExactSynonym Obesity due to pro-opiomelanocortin deficiency icd11.foundation:530374033 Obesity due to pro-opiomelanocortin deficiency added Obesity due to pro-opiomelanocortin deficiency icd11.foundation:530374033 icd11.foundation -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency oio:hasExactSynonym POMC - [ pro-opiomelanocortin] deficiency icd11.foundation:530374033 Obesity due to pro-opiomelanocortin deficiency added POMC - [ pro-opiomelanocortin] deficiency icd11.foundation:530374033 icd11.foundation +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency oio:hasExactSynonym POMC - [ pro-opiomelanocortin] deficiency icd11.foundation:530374033 Obesity due to pro-opiomelanocortin deficiency added POMC - [ pro-opiomelanocortin] deficiency icd11.foundation:530374033 icd11.foundation MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency oio:hasExactSynonym Congenital glutamine synthase deficiency icd11.foundation:238162640 Congenital brain dysgenesis due to glutamine synthetase deficiency added Congenital glutamine synthase deficiency icd11.foundation:238162640 icd11.foundation MONDO:0012396 exercise-induced hyperinsulinism oio:hasExactSynonym Exercise-induced hyperinsulinism icd11.foundation:999935139 Exercise-induced hyperinsulinism added Exercise-induced hyperinsulinism icd11.foundation:999935139 icd11.foundation MONDO:0012401 congenital stromal corneal dystrophy oio:hasExactSynonym Congenital hereditary corneal dystrophy, Turpin stromal type icd11.foundation:1796933876 Congenital stromal corneal dystrophy added Congenital hereditary corneal dystrophy, Turpin stromal type icd11.foundation:1796933876 icd11.foundation @@ -59254,7 +59254,6 @@ MONDO:0012521 herpes simplex encephalitis oio:hasExactSynonym herpes virus ence MONDO:0012521 herpes simplex encephalitis oio:hasExactSynonym herpesviral encephalitis icd11.foundation:320069644 Encephalitis due to herpes simplex virus added herpesviral encephalitis icd11.foundation:320069644 icd11.foundation MONDO:0012521 herpes simplex encephalitis oio:hasExactSynonym herpetic encephalopathy icd11.foundation:320069644 Encephalitis due to herpes simplex virus added herpetic encephalopathy icd11.foundation:320069644 icd11.foundation MONDO:0012545 neutral lipid storage myopathy oio:hasExactSynonym NLSDM - [Neutral lipid storage myopathy] icd11.foundation:1512138529 Neutral lipid storage myopathy added NLSDM - [Neutral lipid storage myopathy] icd11.foundation:1512138529 icd11.foundation -MONDO:0012545 neutral lipid storage myopathy oio:hasExactSynonym Neutral lipid storage disease with myopathy without ichthyosis icd11.foundation:1512138529 Neutral lipid storage myopathy added Neutral lipid storage disease with myopathy without ichthyosis icd11.foundation:1512138529 icd11.foundation MONDO:0012545 neutral lipid storage myopathy oio:hasExactSynonym Neutral lipid storage myopathy icd11.foundation:1512138529 Neutral lipid storage myopathy added Neutral lipid storage myopathy icd11.foundation:1512138529 icd11.foundation MONDO:0012545 neutral lipid storage myopathy oio:hasExactSynonym nlsdm - icd11.foundation:1512138529 Neutral lipid storage myopathy added nlsdm - icd11.foundation:1512138529 icd11.foundation MONDO:0012548 Kostmann syndrome oio:hasExactSynonym Kostmann syndrome icd11.foundation:421553273 Kostmann syndrome added Kostmann syndrome icd11.foundation:421553273 icd11.foundation @@ -59270,7 +59269,7 @@ MONDO:0012621 deafness-infertility syndrome oio:hasExactSynonym 15q15.3 deletio MONDO:0012621 deafness-infertility syndrome oio:hasExactSynonym Monosomy 15q15.3 icd11.foundation:1430704280 Deafness-infertility syndrome added Monosomy 15q15.3 icd11.foundation:1430704280 icd11.foundation MONDO:0012640 Charcot-Marie-Tooth disease type 4J oio:hasExactSynonym Charcot-Marie-Tooth disease type 4J icd11.foundation:905681283 Charcot-Marie-Tooth disease type 4J added Charcot-Marie-Tooth disease type 4J icd11.foundation:905681283 icd11.foundation MONDO:0012658 brachydactyly type B2 oio:hasExactSynonym Brachydactyly type B2 icd11.foundation:891810441 Brachydactyly type B2 added Brachydactyly type B2 icd11.foundation:891810441 icd11.foundation -MONDO:0012669 Legius syndrome oio:hasExactSynonym NFLS - [Neurofibromatosis 1-like syndrome] (MIM 611431) icd11.foundation:1025118245 Legius syndrome added NFLS - [Neurofibromatosis 1-like syndrome] (MIM 611431) icd11.foundation:1025118245 icd11.foundation +MONDO:0012669 Legius syndrome oio:hasExactSynonym NFLS - [Neurofibromatosis 1-like syndrome] (MIM 611431) icd11.foundation:1025118245 Legius syndrome added NFLS - [Neurofibromatosis 1-like syndrome] (MIM 611431) icd11.foundation:1025118245 icd11.foundation MONDO:0012669 Legius syndrome oio:hasExactSynonym nfls - icd11.foundation:1025118245 Legius syndrome added nfls - icd11.foundation:1025118245 icd11.foundation MONDO:0012672 cholelithiasis oio:hasExactSynonym Cholelithiasis icd11.foundation:1268183934 Cholelithiasis added Cholelithiasis icd11.foundation:1268183934 icd11.foundation MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type oio:hasExactSynonym Spondyloepiphyseal dysplasia, Cantu type icd11.foundation:897226700 Spondyloepiphyseal dysplasia, Cantu type added Spondyloepiphyseal dysplasia, Cantu type icd11.foundation:897226700 icd11.foundation @@ -59311,7 +59310,7 @@ MONDO:0013125 CLAPO syndrome oio:hasExactSynonym CLAPO syndrome icd11.foundat MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oio:hasExactSynonym Hereditary thrombophilia due to congenital HRG - [histidine-rich (poly-L) glycoprotein] deficiency icd11.foundation:1764310021 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency added Hereditary thrombophilia due to congenital HRG - [histidine-rich (poly-L) glycoprotein] deficiency icd11.foundation:1764310021 icd11.foundation MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency oio:hasExactSynonym Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency icd11.foundation:1764310021 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency added Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency icd11.foundation:1764310021 icd11.foundation MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies icd11.foundation:424903269 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies added Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies icd11.foundation:424903269 icd11.foundation -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym URDS - [Urban-Rifkin-Davis syndrome] (MIM 613177) icd11.foundation:424903269 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies added URDS - [Urban-Rifkin-Davis syndrome] (MIM 613177) icd11.foundation:424903269 icd11.foundation +MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym URDS - [Urban-Rifkin-Davis syndrome] (MIM 613177) icd11.foundation:424903269 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies added URDS - [Urban-Rifkin-Davis syndrome] (MIM 613177) icd11.foundation:424903269 icd11.foundation MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies oio:hasExactSynonym urds - icd11.foundation:424903269 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies added urds - icd11.foundation:424903269 icd11.foundation MONDO:0013189 trichotillomania oio:hasExactSynonym Compulsive hair plucking icd11.foundation:1253999657 Trichotillomania added Compulsive hair plucking icd11.foundation:1253999657 icd11.foundation MONDO:0013189 trichotillomania oio:hasExactSynonym Hair pulling disorder icd11.foundation:1253999657 Trichotillomania added Hair pulling disorder icd11.foundation:1253999657 icd11.foundation @@ -59329,7 +59328,7 @@ MONDO:0013433 primary sclerosing cholangitis oio:hasExactSynonym psc - icd11. MONDO:0013433 primary sclerosing cholangitis oio:hasExactSynonym sclerosing cholangitis icd11.foundation:857962451 Primary sclerosing cholangitis added sclerosing cholangitis icd11.foundation:857962451 icd11.foundation MONDO:0013486 spinocerebellar ataxia type 32 oio:hasExactSynonym Spinocerebellar ataxia type 32 icd11.foundation:1372046516 Spinocerebellar ataxia type 32 added Spinocerebellar ataxia type 32 icd11.foundation:1372046516 icd11.foundation MONDO:0013512 hemoglobin H disease oio:hasExactSynonym Alpha thalassaemia intermedia icd11.foundation:9436211 Haemoglobin H disease ( / included) added Alpha thalassaemia intermedia icd11.foundation:9436211 icd11.foundation -MONDO:0013512 hemoglobin H disease oio:hasExactSynonym Haemoglobin H disease ( / included) icd11.foundation:9436211 Haemoglobin H disease ( / included) added Haemoglobin H disease ( / included) icd11.foundation:9436211 icd11.foundation +MONDO:0013512 hemoglobin H disease oio:hasExactSynonym Haemoglobin H disease ( / included) icd11.foundation:9436211 Haemoglobin H disease ( / included) added Haemoglobin H disease ( / included) icd11.foundation:9436211 icd11.foundation MONDO:0013512 hemoglobin H disease oio:hasExactSynonym alpha - /- - or mutational forms of alpha-thalassaemia icd11.foundation:9436211 Haemoglobin H disease ( / included) added alpha - /- - or mutational forms of alpha-thalassaemia icd11.foundation:9436211 icd11.foundation MONDO:0013512 hemoglobin H disease oio:hasExactSynonym haemoglobin h disease icd11.foundation:9436211 Haemoglobin H disease ( / included) added haemoglobin h disease icd11.foundation:9436211 icd11.foundation MONDO:0013526 progressive myoclonic epilepsy type 6 oio:hasExactSynonym Progressive myoclonic epilepsy type 6 icd11.foundation:878291417 Progressive myoclonic epilepsy type 6 added Progressive myoclonic epilepsy type 6 icd11.foundation:878291417 icd11.foundation @@ -59384,7 +59383,7 @@ MONDO:0015039 lissencephaly with cerebellar hypoplasia type F oio:hasExactSynony MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym alpha heavy chain disease without mention of remission icd11.foundation:680227490 Alpha heavy chain disease added alpha heavy chain disease without mention of remission icd11.foundation:680227490 icd11.foundation MONDO:0015049 solitary necrotic nodule of the liver oio:hasExactSynonym Solitary necrotic nodule of the liver icd11.foundation:209168589 Solitary necrotic nodule of the liver added Solitary necrotic nodule of the liver icd11.foundation:209168589 icd11.foundation MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade oio:hasExactSynonym Neuroendocrine neoplasms of appendix icd11.foundation:1590340268 Neuroendocrine neoplasms of appendix added Neuroendocrine neoplasms of appendix icd11.foundation:1590340268 icd11.foundation -MONDO:0015069 neuroendocrine tumor of the anal canal oio:hasExactSynonym NEC [neuroendocrine carcinoma] of anus or anal canal icd11.foundation:1927831331 Neuroendocrine neoplasm of anus or anal canal added NEC [neuroendocrine carcinoma] of anus or anal canal icd11.foundation:1927831331 icd11.foundation +MONDO:0015069 neuroendocrine tumor of the anal canal oio:hasExactSynonym NEC [neuroendocrine carcinoma] of anus or anal canal icd11.foundation:1927831331 Neuroendocrine neoplasm of anus or anal canal added NEC [neuroendocrine carcinoma] of anus or anal canal icd11.foundation:1927831331 icd11.foundation MONDO:0015069 neuroendocrine tumor of the anal canal oio:hasExactSynonym Neuroendocrine neoplasm of anus or anal canal icd11.foundation:1927831331 Neuroendocrine neoplasm of anus or anal canal added Neuroendocrine neoplasm of anus or anal canal icd11.foundation:1927831331 icd11.foundation MONDO:0015070 laryngeal neuroendocrine neoplasm oio:hasExactSynonym Laryngeal endocrine tumour icd11.foundation:1502591214 Laryngeal endocrine tumour added Laryngeal endocrine tumour icd11.foundation:1502591214 icd11.foundation MONDO:0015071 middle ear neuroendocrine tumor oio:hasExactSynonym Middle ear endocrine tumour icd11.foundation:1437498002 Middle ear endocrine tumour added Middle ear endocrine tumour icd11.foundation:1437498002 icd11.foundation @@ -59576,7 +59575,7 @@ MONDO:0015355 distal hereditary motor neuropathy type 7 oio:hasExactSynonym Dis MONDO:0015355 distal hereditary motor neuropathy type 7 oio:hasExactSynonym dhmn7 - icd11.foundation:80361835 Distal hereditary motor neuropathy type 7 added dhmn7 - icd11.foundation:80361835 icd11.foundation MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion oio:hasExactSynonym Secondary hypoparathyroidism icd11.foundation:1229357339 Secondary hypoparathyroidism added Secondary hypoparathyroidism icd11.foundation:1229357339 icd11.foundation MONDO:0015357 secondary hypoparathyroidism due to impaired parathormon secretion oio:hasExactSynonym Secondary hypoparathyroidism due to impaired parathormon secretion icd11.foundation:1229357339 Secondary hypoparathyroidism added Secondary hypoparathyroidism due to impaired parathormon secretion icd11.foundation:1229357339 icd11.foundation -MONDO:0015358 hereditary motor and sensory neuropathy oio:hasExactSynonym HMSN - [Hereditary motor and sensory neuropathy] icd11.foundation:1538134578 Hereditary motor and sensory neuropathy added HMSN - [Hereditary motor and sensory neuropathy] icd11.foundation:1538134578 icd11.foundation +MONDO:0015358 hereditary motor and sensory neuropathy oio:hasExactSynonym HMSN - [Hereditary motor and sensory neuropathy] icd11.foundation:1538134578 Hereditary motor and sensory neuropathy added HMSN - [Hereditary motor and sensory neuropathy] icd11.foundation:1538134578 icd11.foundation MONDO:0015358 hereditary motor and sensory neuropathy oio:hasExactSynonym HSMN - [hereditary sensory and motor neuropathy] icd11.foundation:1538134578 Hereditary motor and sensory neuropathy added HSMN - [hereditary sensory and motor neuropathy] icd11.foundation:1538134578 icd11.foundation MONDO:0015358 hereditary motor and sensory neuropathy oio:hasExactSynonym Hereditary motor and sensory neuropathy icd11.foundation:1538134578 Hereditary motor and sensory neuropathy added Hereditary motor and sensory neuropathy icd11.foundation:1538134578 icd11.foundation MONDO:0015358 hereditary motor and sensory neuropathy oio:hasExactSynonym Hereditary motor and sensory neuropathy, types I-IV icd11.foundation:1538134578 Hereditary motor and sensory neuropathy added Hereditary motor and sensory neuropathy, types I-IV icd11.foundation:1538134578 icd11.foundation @@ -60125,7 +60124,7 @@ MONDO:0016379 erosive pustular dermatosis of the scalp oio:hasExactSynonym Eros MONDO:0016380 acquired hypertrichosis lanuginosa oio:hasExactSynonym Acquired hypertrichosis lanuginosa icd11.foundation:1885858920 Acquired hypertrichosis lanuginosa added Acquired hypertrichosis lanuginosa icd11.foundation:1885858920 icd11.foundation MONDO:0016380 acquired hypertrichosis lanuginosa oio:hasExactSynonym Paraneoplastic hypertrichosis lanuginosa icd11.foundation:1885858920 Acquired hypertrichosis lanuginosa added Paraneoplastic hypertrichosis lanuginosa icd11.foundation:1885858920 icd11.foundation MONDO:0016381 hypertrichosis lanuginosa congenita oio:hasExactSynonym Hypertrichosis universalis congenita icd11.foundation:199539869 Hypertrichosis lanuginosa congenita added Hypertrichosis universalis congenita icd11.foundation:199539869 icd11.foundation -MONDO:0016383 nephrogenic diabetes insipidus oio:hasExactSynonym ADH - [antidiuretic-hormone] resistant diabetes insipidus icd11.foundation:1417669099 Nephrogenic diabetes insipidus added ADH - [antidiuretic-hormone] resistant diabetes insipidus icd11.foundation:1417669099 icd11.foundation +MONDO:0016383 nephrogenic diabetes insipidus oio:hasExactSynonym ADH - [antidiuretic-hormone] resistant diabetes insipidus icd11.foundation:1417669099 Nephrogenic diabetes insipidus added ADH - [antidiuretic-hormone] resistant diabetes insipidus icd11.foundation:1417669099 icd11.foundation MONDO:0016383 nephrogenic diabetes insipidus oio:hasExactSynonym NDI - [nephrogenic diabetes insipidus] icd11.foundation:1417669099 Nephrogenic diabetes insipidus added NDI - [nephrogenic diabetes insipidus] icd11.foundation:1417669099 icd11.foundation MONDO:0016383 nephrogenic diabetes insipidus oio:hasExactSynonym Nephrogenic diabetes insipidus icd11.foundation:1417669099 Nephrogenic diabetes insipidus added Nephrogenic diabetes insipidus icd11.foundation:1417669099 icd11.foundation MONDO:0016383 nephrogenic diabetes insipidus oio:hasExactSynonym adiuretin-resistant diabetes insipidus icd11.foundation:1417669099 Nephrogenic diabetes insipidus added adiuretin-resistant diabetes insipidus icd11.foundation:1417669099 icd11.foundation @@ -60534,7 +60533,7 @@ MONDO:0017243 bullous diffuse cutaneous mastocytosis oio:hasExactSynonym Bullou MONDO:0017248 congenital pulmonary airway malformation type 0 oio:hasExactSynonym CPAM type 0 - [Congenital pulmonary airway malformation type 0] icd11.foundation:1763273166 Congenital pulmonary airway malformation type 0 added CPAM type 0 - [Congenital pulmonary airway malformation type 0] icd11.foundation:1763273166 icd11.foundation MONDO:0017248 congenital pulmonary airway malformation type 0 oio:hasExactSynonym Congenital pulmonary airway malformation type 0 icd11.foundation:1763273166 Congenital pulmonary airway malformation type 0 added Congenital pulmonary airway malformation type 0 icd11.foundation:1763273166 icd11.foundation MONDO:0017248 congenital pulmonary airway malformation type 0 oio:hasExactSynonym cpam type 0 - icd11.foundation:1763273166 Congenital pulmonary airway malformation type 0 added cpam type 0 - icd11.foundation:1763273166 icd11.foundation -MONDO:0017249 congenital pulmonary airway malformation type 1 oio:hasExactSynonym CPAM type 1 - [Congenital pulmonary airway malformation type 1] icd11.foundation:1455719613 Congenital pulmonary airway malformation type 1 added CPAM type 1 - [Congenital pulmonary airway malformation type 1] icd11.foundation:1455719613 icd11.foundation +MONDO:0017249 congenital pulmonary airway malformation type 1 oio:hasExactSynonym CPAM type 1 - [Congenital pulmonary airway malformation type 1] icd11.foundation:1455719613 Congenital pulmonary airway malformation type 1 added CPAM type 1 - [Congenital pulmonary airway malformation type 1] icd11.foundation:1455719613 icd11.foundation MONDO:0017249 congenital pulmonary airway malformation type 1 oio:hasExactSynonym Congenital pulmonary airway malformation type 1 icd11.foundation:1455719613 Congenital pulmonary airway malformation type 1 added Congenital pulmonary airway malformation type 1 icd11.foundation:1455719613 icd11.foundation MONDO:0017249 congenital pulmonary airway malformation type 1 oio:hasExactSynonym cpam type 1 - icd11.foundation:1455719613 Congenital pulmonary airway malformation type 1 added cpam type 1 - icd11.foundation:1455719613 icd11.foundation MONDO:0017250 congenital pulmonary airway malformation type 2 oio:hasExactSynonym CPAM type 2 - [Congenital pulmonary airway malformation type 2] icd11.foundation:1921224131 Congenital pulmonary airway malformation type 2 added CPAM type 2 - [Congenital pulmonary airway malformation type 2] icd11.foundation:1921224131 icd11.foundation @@ -60957,13 +60956,13 @@ MONDO:0017875 Bolivian hemorrhagic fever oio:hasExactSynonym bhf - icd11.foun MONDO:0017876 Venezuelan hemorrhagic fever oio:hasExactSynonym VeHF - [Venezuelan haemorrhagic fever] icd11.foundation:356743940 Venezuelan haemorrhagic fever added VeHF - [Venezuelan haemorrhagic fever] icd11.foundation:356743940 icd11.foundation MONDO:0017876 Venezuelan hemorrhagic fever oio:hasExactSynonym Venezuelan haemorrhagic fever icd11.foundation:356743940 Venezuelan haemorrhagic fever added Venezuelan haemorrhagic fever icd11.foundation:356743940 icd11.foundation MONDO:0017876 Venezuelan hemorrhagic fever oio:hasExactSynonym vehf - icd11.foundation:356743940 Venezuelan haemorrhagic fever added vehf - icd11.foundation:356743940 icd11.foundation -MONDO:0017879 hantavirus pulmonary syndrome oio:hasExactSynonym HCPS [Hantavirus cardiopulmonary syndrome] icd11.foundation:582624609 Hantavirus pulmonary syndrome added HCPS [Hantavirus cardiopulmonary syndrome] icd11.foundation:582624609 icd11.foundation -MONDO:0017879 hantavirus pulmonary syndrome oio:hasExactSynonym HPS [Hantavirus pulmonary syndrome] icd11.foundation:582624609 Hantavirus pulmonary syndrome added HPS [Hantavirus pulmonary syndrome] icd11.foundation:582624609 icd11.foundation +MONDO:0017879 hantavirus pulmonary syndrome oio:hasExactSynonym HCPS [Hantavirus cardiopulmonary syndrome] icd11.foundation:582624609 Hantavirus pulmonary syndrome added HCPS [Hantavirus cardiopulmonary syndrome] icd11.foundation:582624609 icd11.foundation +MONDO:0017879 hantavirus pulmonary syndrome oio:hasExactSynonym HPS [Hantavirus pulmonary syndrome] icd11.foundation:582624609 Hantavirus pulmonary syndrome added HPS [Hantavirus pulmonary syndrome] icd11.foundation:582624609 icd11.foundation MONDO:0017879 hantavirus pulmonary syndrome oio:hasExactSynonym Hantavirus cardiopulmonary syndrome icd11.foundation:582624609 Hantavirus pulmonary syndrome added Hantavirus cardiopulmonary syndrome icd11.foundation:582624609 icd11.foundation MONDO:0017879 hantavirus pulmonary syndrome oio:hasExactSynonym Hantavirus pulmonary syndrome icd11.foundation:582624609 Hantavirus pulmonary syndrome added Hantavirus pulmonary syndrome icd11.foundation:582624609 icd11.foundation MONDO:0017879 hantavirus pulmonary syndrome oio:hasExactSynonym hcps icd11.foundation:582624609 Hantavirus pulmonary syndrome added hcps icd11.foundation:582624609 icd11.foundation MONDO:0017879 hantavirus pulmonary syndrome oio:hasExactSynonym hps icd11.foundation:582624609 Hantavirus pulmonary syndrome added hps icd11.foundation:582624609 icd11.foundation -MONDO:0017880 Rift valley fever oio:hasExactSynonym RFV [Rift Valley fever] icd11.foundation:854137188 Rift Valley fever added RFV [Rift Valley fever] icd11.foundation:854137188 icd11.foundation +MONDO:0017880 Rift valley fever oio:hasExactSynonym RFV [Rift Valley fever] icd11.foundation:854137188 Rift Valley fever added RFV [Rift Valley fever] icd11.foundation:854137188 icd11.foundation MONDO:0017880 Rift valley fever oio:hasExactSynonym Rift Valley fever icd11.foundation:854137188 Rift Valley fever added Rift Valley fever icd11.foundation:854137188 icd11.foundation MONDO:0017880 Rift valley fever oio:hasExactSynonym rfv icd11.foundation:854137188 Rift Valley fever added rfv icd11.foundation:854137188 icd11.foundation MONDO:0017881 Kyasanur forest disease oio:hasExactSynonym KFD - [ Kyasanur Forest disease] icd11.foundation:1288604967 Kyasanur Forest disease added KFD - [ Kyasanur Forest disease] icd11.foundation:1288604967 icd11.foundation @@ -61713,7 +61712,7 @@ MONDO:0019160 primary progressive freezing gait oio:hasExactSynonym Primary pro MONDO:0019161 pseudohypoaldosteronism type 1 oio:hasExactSynonym Pseudohypoaldosteronism type 1 icd11.foundation:1576878036 Pseudohypoaldosteronism type 1 added Pseudohypoaldosteronism type 1 icd11.foundation:1576878036 icd11.foundation MONDO:0019162 pseudohypoaldosteronism type 2 oio:hasExactSynonym Pseudohypoaldosteronism type 2 icd11.foundation:715347509 Pseudohypoaldosteronism type 2 added Pseudohypoaldosteronism type 2 icd11.foundation:715347509 icd11.foundation MONDO:0019165 central precocious puberty oio:hasExactSynonym Central precocious puberty icd11.foundation:1749914533 Central precocious puberty added Central precocious puberty icd11.foundation:1749914533 icd11.foundation -MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym HSP - (Henoch-Schnlein purpura) icd11.foundation:1629105375 IgA vasculitis added HSP - (Henoch-Schnlein purpura) icd11.foundation:1629105375 icd11.foundation +MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym HSP - (Henoch-Schnlein purpura) icd11.foundation:1629105375 IgA vasculitis added HSP - (Henoch-Schnlein purpura) icd11.foundation:1629105375 icd11.foundation MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym Henoch-Schnlein purpura icd11.foundation:1629105375 IgA vasculitis added Henoch-Schnlein purpura icd11.foundation:1629105375 icd11.foundation MONDO:0019167 immunoglobulin A vasculitis oio:hasExactSynonym SchnleinHenoch purpura icd11.foundation:1629105375 IgA vasculitis added SchnleinHenoch purpura icd11.foundation:1629105375 icd11.foundation MONDO:0019168 pyomyositis oio:hasExactSynonym Pyomyositis icd11.foundation:856598467 Pyomyositis added Pyomyositis icd11.foundation:856598467 icd11.foundation @@ -61785,7 +61784,6 @@ MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metaboli MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism oio:hasExactSynonym disturbances of sulphur-bearing amino-acid metabolism icd11.foundation:67872354 Disorders of methionine cycle or sulphur amino acid metabolism added disturbances of sulphur-bearing amino-acid metabolism icd11.foundation:67872354 icd11.foundation MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism oio:hasExactSynonym sulphuraminoacidaemia icd11.foundation:67872354 Disorders of methionine cycle or sulphur amino acid metabolism added sulphuraminoacidaemia icd11.foundation:67872354 icd11.foundation MONDO:0019228 inborn disorder of histidine metabolism oio:hasExactSynonym Disorders of histidine metabolism icd11.foundation:543162269 Disorders of histidine metabolism added Disorders of histidine metabolism icd11.foundation:543162269 icd11.foundation -MONDO:0019228 inborn disorder of histidine metabolism oio:hasExactSynonym Disturbance of histidine metabolism icd11.foundation:543162269 Disorders of histidine metabolism added Disturbance of histidine metabolism icd11.foundation:543162269 icd11.foundation MONDO:0019229 inborn disorder of ketolysis oio:hasExactSynonym Disorders of ketone body metabolism icd11.foundation:1454722246 Disorders of ketone body metabolism added Disorders of ketone body metabolism icd11.foundation:1454722246 icd11.foundation MONDO:0019231 inborn disorder of pentose phosphate metabolism oio:hasExactSynonym Disorders of the pentose phosphate pathway icd11.foundation:2067324607 Disorders of the pentose phosphate pathway added Disorders of the pentose phosphate pathway icd11.foundation:2067324607 icd11.foundation MONDO:0019232 inborn disorder of peptide metabolism oio:hasExactSynonym Disorders of peptide metabolism icd11.foundation:1488430462 Disorders of peptide metabolism added Disorders of peptide metabolism icd11.foundation:1488430462 icd11.foundation @@ -61844,7 +61842,7 @@ MONDO:0019308 junctional epidermolysis bullosa inversa oio:hasExactSynonym JEB MONDO:0019308 junctional epidermolysis bullosa inversa oio:hasExactSynonym JEB-inv - [junctional epidermolysis bullosa inversa] icd11.foundation:1191822552 Junctional epidermolysis bullosa inversa added JEB-inv - [junctional epidermolysis bullosa inversa] icd11.foundation:1191822552 icd11.foundation MONDO:0019308 junctional epidermolysis bullosa inversa oio:hasExactSynonym Junctional epidermolysis bullosa inversa icd11.foundation:1191822552 Junctional epidermolysis bullosa inversa added Junctional epidermolysis bullosa inversa icd11.foundation:1191822552 icd11.foundation MONDO:0019308 junctional epidermolysis bullosa inversa oio:hasExactSynonym jeb-inv - icd11.foundation:1191822552 Junctional epidermolysis bullosa inversa added jeb-inv - icd11.foundation:1191822552 icd11.foundation -MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa oio:hasExactSynonym RDEB - [recessive dystrophic epidermolysis bullosa] inversa icd11.foundation:495465277 Recessive dystrophic epidermolysis bullosa inversa added RDEB - [recessive dystrophic epidermolysis bullosa] inversa icd11.foundation:495465277 icd11.foundation +MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa oio:hasExactSynonym RDEB - [recessive dystrophic epidermolysis bullosa] inversa icd11.foundation:495465277 Recessive dystrophic epidermolysis bullosa inversa added RDEB - [recessive dystrophic epidermolysis bullosa] inversa icd11.foundation:495465277 icd11.foundation MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa oio:hasExactSynonym RDEB-I - [recessive dystrophic epidermolysis bullosa inversa] icd11.foundation:495465277 Recessive dystrophic epidermolysis bullosa inversa added RDEB-I - [recessive dystrophic epidermolysis bullosa inversa] icd11.foundation:495465277 icd11.foundation MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa oio:hasExactSynonym RDEB-inv - [recessive dystrophic epidermolysis bullosa inversa] icd11.foundation:495465277 Recessive dystrophic epidermolysis bullosa inversa added RDEB-inv - [recessive dystrophic epidermolysis bullosa inversa] icd11.foundation:495465277 icd11.foundation MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa oio:hasExactSynonym Recessive dystrophic epidermolysis bullosa inversa icd11.foundation:495465277 Recessive dystrophic epidermolysis bullosa inversa added Recessive dystrophic epidermolysis bullosa inversa icd11.foundation:495465277 icd11.foundation @@ -62122,7 +62120,7 @@ MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym Willebrand MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym angiohaemophilia A icd11.foundation:2112021600 Von Willebrand disease added angiohaemophilia A icd11.foundation:2112021600 icd11.foundation MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym angiohaemophilia B icd11.foundation:2112021600 Von Willebrand disease added angiohaemophilia B icd11.foundation:2112021600 icd11.foundation MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym pseudohaemophilia icd11.foundation:2112021600 Von Willebrand disease added pseudohaemophilia icd11.foundation:2112021600 icd11.foundation -MONDO:0019571 autosomal dominant cutis laxa oio:hasExactSynonym ADCL - [Autosomal dominant cutis laxa] (MIM 123700) icd11.foundation:720393698 Autosomal dominant cutis laxa added ADCL - [Autosomal dominant cutis laxa] (MIM 123700) icd11.foundation:720393698 icd11.foundation +MONDO:0019571 autosomal dominant cutis laxa oio:hasExactSynonym ADCL - [Autosomal dominant cutis laxa] (MIM 123700) icd11.foundation:720393698 Autosomal dominant cutis laxa added ADCL - [Autosomal dominant cutis laxa] (MIM 123700) icd11.foundation:720393698 icd11.foundation MONDO:0019571 autosomal dominant cutis laxa oio:hasExactSynonym Autosomal dominant cutis laxa icd11.foundation:720393698 Autosomal dominant cutis laxa added Autosomal dominant cutis laxa icd11.foundation:720393698 icd11.foundation MONDO:0019571 autosomal dominant cutis laxa oio:hasExactSynonym adcl - icd11.foundation:720393698 Autosomal dominant cutis laxa added adcl - icd11.foundation:720393698 icd11.foundation MONDO:0019574 secondary intestinal lymphangiectasia oio:hasExactSynonym Secondary intestinal lymphangiectasia icd11.foundation:1730894033 Secondary intestinal lymphangiectasia added Secondary intestinal lymphangiectasia icd11.foundation:1730894033 icd11.foundation @@ -62266,7 +62264,7 @@ MONDO:0019767 hamel cerebro-palato-cardiac syndrome oio:hasExactSynonym Hamel c MONDO:0019771 oromandibular dystonia oio:hasExactSynonym Oromandibular dystonia icd11.foundation:749381409 Oromandibular dystonia added Oromandibular dystonia icd11.foundation:749381409 icd11.foundation MONDO:0019773 myelomeningocele oio:hasExactSynonym Myelomeningocele icd11.foundation:1200528084 Myelomeningocele added Myelomeningocele icd11.foundation:1200528084 icd11.foundation MONDO:0019780 anotia oio:hasExactSynonym Anotia icd11.foundation:2056675356 Anotia added Anotia icd11.foundation:2056675356 icd11.foundation -MONDO:0019780 anotia oio:hasExactSynonym Congenital absence of auricle icd11.foundation:2056675356 Anotia added Congenital absence of auricle icd11.foundation:2056675356 icd11.foundation +MONDO:0019780 anotia oio:hasExactSynonym Congenital absence of auricle icd11.foundation:2056675356 Anotia added Congenital absence of auricle icd11.foundation:2056675356 icd11.foundation MONDO:0019780 anotia oio:hasExactSynonym Congenital absence of ear auricle icd11.foundation:2056675356 Anotia added Congenital absence of ear auricle icd11.foundation:2056675356 icd11.foundation MONDO:0019780 anotia oio:hasExactSynonym absence of auricle icd11.foundation:2056675356 Anotia added absence of auricle icd11.foundation:2056675356 icd11.foundation MONDO:0019780 anotia oio:hasExactSynonym absence of ear auricle icd11.foundation:2056675356 Anotia added absence of ear auricle icd11.foundation:2056675356 icd11.foundation @@ -62447,7 +62445,7 @@ MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy oio:hasExactSyn MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym CMML - [chronic myelomonocytic leukaemia] icd11.foundation:2073226578 Chronic myelomonocytic leukaemia added CMML - [chronic myelomonocytic leukaemia] icd11.foundation:2073226578 icd11.foundation MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym Chronic monocytic leukaemia icd11.foundation:2073226578 Chronic myelomonocytic leukaemia added Chronic monocytic leukaemia icd11.foundation:2073226578 icd11.foundation MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym Chronic myelomonocytic leukaemia icd11.foundation:2073226578 Chronic myelomonocytic leukaemia added Chronic myelomonocytic leukaemia icd11.foundation:2073226578 icd11.foundation -MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym chronic monocytoid leukaemia icd11.foundation:2073226578 Chronic myelomonocytic leukaemia added chronic monocytoid leukaemia icd11.foundation:2073226578 icd11.foundation +MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym chronic monocytoid leukaemia icd11.foundation:2073226578 Chronic myelomonocytic leukaemia added chronic monocytoid leukaemia icd11.foundation:2073226578 icd11.foundation MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym chronic myelomonocytic leukaemia without mention of remission icd11.foundation:2073226578 Chronic myelomonocytic leukaemia added chronic myelomonocytic leukaemia without mention of remission icd11.foundation:2073226578 icd11.foundation MONDO:0020311 chronic myelomonocytic leukemia oio:hasExactSynonym cmml - icd11.foundation:2073226578 Chronic myelomonocytic leukaemia added cmml - icd11.foundation:2073226578 icd11.foundation MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oio:hasExactSynonym Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) icd11.foundation:808954959 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) added Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) icd11.foundation:808954959 icd11.foundation @@ -62585,7 +62583,7 @@ MONDO:0020492 hemimegalencephaly oio:hasExactSynonym Unilateral macrencephaly MONDO:0020492 hemimegalencephaly oio:hasExactSynonym Unilateral macroencephaly icd11.foundation:961229160 Hemimegalencephaly added Unilateral macroencephaly icd11.foundation:961229160 icd11.foundation MONDO:0020496 familial porencephaly oio:hasExactSynonym Familial porencephaly icd11.foundation:1833583032 Familial porencephaly added Familial porencephaly icd11.foundation:1833583032 icd11.foundation MONDO:0020497 Turcot syndrome with polyposis oio:hasExactSynonym Turcot syndrome with polyposis icd11.foundation:813602368 Turcot syndrome with polyposis added Turcot syndrome with polyposis icd11.foundation:813602368 icd11.foundation -MONDO:0020500 Marburg hemorrhagic fever oio:hasExactSynonym MARD - [Marburg disease] icd11.foundation:696598707 Marburg disease added MARD - [Marburg disease] icd11.foundation:696598707 icd11.foundation +MONDO:0020500 Marburg hemorrhagic fever oio:hasExactSynonym MARD - [Marburg disease] icd11.foundation:696598707 Marburg disease added MARD - [Marburg disease] icd11.foundation:696598707 icd11.foundation MONDO:0020500 Marburg hemorrhagic fever oio:hasExactSynonym mard - icd11.foundation:696598707 Marburg disease added mard - icd11.foundation:696598707 icd11.foundation MONDO:0020500 Marburg hemorrhagic fever oio:hasExactSynonym vervet monkey disease icd11.foundation:696598707 Marburg disease added vervet monkey disease icd11.foundation:696598707 icd11.foundation MONDO:0020501 Crimean-Congo hemorrhagic fever oio:hasExactSynonym CCHF - [Crimean-Congo haemorrhagic fever] icd11.foundation:1562906700 Crimean-Congo haemorrhagic fever added CCHF - [Crimean-Congo haemorrhagic fever] icd11.foundation:1562906700 icd11.foundation @@ -62614,8 +62612,8 @@ MONDO:0020525 transient neonatal diabetes mellitus oio:hasExactSynonym TNDM -[t MONDO:0020525 transient neonatal diabetes mellitus oio:hasExactSynonym tndm -[transient neonatal diabetes mellitus] icd11.foundation:1596856936 Transient neonatal diabetes mellitus added tndm -[transient neonatal diabetes mellitus] icd11.foundation:1596856936 icd11.foundation MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym Cushing syndrome secondary to ectopic ACTH-secretion icd11.foundation:1646144829 Ectopic ACTH syndrome added Cushing syndrome secondary to ectopic ACTH-secretion icd11.foundation:1646144829 icd11.foundation MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym Ectopic ACTH syndrome icd11.foundation:1646144829 Ectopic ACTH syndrome added Ectopic ACTH syndrome icd11.foundation:1646144829 icd11.foundation -MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym ectopic ACTH - [adrenocorticotropic hormone] secretion icd11.foundation:1646144829 Ectopic ACTH syndrome added ectopic ACTH - [adrenocorticotropic hormone] secretion icd11.foundation:1646144829 icd11.foundation -MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym ectopic ACTH - [adrenocorticotropic hormone] secretion causing Cushing syndrome icd11.foundation:1646144829 Ectopic ACTH syndrome added ectopic ACTH - [adrenocorticotropic hormone] secretion causing Cushing syndrome icd11.foundation:1646144829 icd11.foundation +MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym ectopic ACTH - [adrenocorticotropic hormone] secretion icd11.foundation:1646144829 Ectopic ACTH syndrome added ectopic ACTH - [adrenocorticotropic hormone] secretion icd11.foundation:1646144829 icd11.foundation +MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym ectopic ACTH - [adrenocorticotropic hormone] secretion causing Cushing syndrome icd11.foundation:1646144829 Ectopic ACTH syndrome added ectopic ACTH - [adrenocorticotropic hormone] secretion causing Cushing syndrome icd11.foundation:1646144829 icd11.foundation MONDO:0020527 ectopic Cushing syndrome oio:hasExactSynonym hypercortisolism due to nonpituitary tumour icd11.foundation:1646144829 Ectopic ACTH syndrome added hypercortisolism due to nonpituitary tumour icd11.foundation:1646144829 icd11.foundation MONDO:0020528 ACTH-dependent Cushing syndrome oio:hasExactSynonym ACTH-dependent Cushing syndrome icd11.foundation:212778081 ACTH-dependent Cushing syndrome added ACTH-dependent Cushing syndrome icd11.foundation:212778081 icd11.foundation MONDO:0020529 ACTH-independent Cushing syndrome oio:hasExactSynonym ACTH-independent Cushing syndrome icd11.foundation:652536990 ACTH-independent Cushing syndrome added ACTH-independent Cushing syndrome icd11.foundation:652536990 icd11.foundation @@ -63217,7 +63215,7 @@ MONDO:0800307 de la Chapelle dysplasia oio:hasExactSynonym De la Chapelle dyspl MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency oio:hasExactSynonym Bleeding diathesis due to thromboxane synthesis deficiency icd11.foundation:1676860885 Bleeding diathesis due to thromboxane synthesis deficiency added Bleeding diathesis due to thromboxane synthesis deficiency icd11.foundation:1676860885 icd11.foundation MONDO:0800449 lysosomal acid lipase deficiency oio:hasExactSynonym Acid esterase deficiency icd11.foundation:381622932 Lysosomal acid lipase deficiency added Acid esterase deficiency icd11.foundation:381622932 icd11.foundation MONDO:0800449 lysosomal acid lipase deficiency oio:hasExactSynonym Lysosomal acid lipase deficiency icd11.foundation:381622932 Lysosomal acid lipase deficiency added Lysosomal acid lipase deficiency icd11.foundation:381622932 icd11.foundation -MONDO:0800453 juvenile absence epilepsy oio:hasExactSynonym Juvenile absence epilepsy icd11.foundation:519416529 Juvenile absence epilepsy added Juvenile absence epilepsy icd11.foundation:519416529 icd11.foundation +MONDO:0800453 juvenile absence epilepsy oio:hasExactSynonym Juvenile absence epilepsy icd11.foundation:519416529 Juvenile absence epilepsy added Juvenile absence epilepsy icd11.foundation:519416529 icd11.foundation MONDO:0800478 trigeminal trophic syndrome oio:hasExactSynonym Trigeminal trophic syndrome icd11.foundation:983392135 Trigeminal trophic syndrome added Trigeminal trophic syndrome icd11.foundation:983392135 icd11.foundation MONDO:0850001 congenital neuronal ceroid lipofuscinosis oio:hasExactSynonym Congenital NCL - [neuronal ceroid lipofuscinosis] icd11.foundation:641209188 Congenital neuronal ceroid lipofuscinosis added Congenital NCL - [neuronal ceroid lipofuscinosis] icd11.foundation:641209188 icd11.foundation MONDO:0850001 congenital neuronal ceroid lipofuscinosis oio:hasExactSynonym Congenital neuronal ceroid lipofuscinosis icd11.foundation:641209188 Congenital neuronal ceroid lipofuscinosis added Congenital neuronal ceroid lipofuscinosis icd11.foundation:641209188 icd11.foundation @@ -63480,8 +63478,8 @@ MONDO:0002476 anuria oio:hasExactSynonym suppression of urinary secretion icd MONDO:0002492 acute kidney failure oio:hasExactSynonym acute renal failure icd11.foundation:476391827 Acute kidney failure confirmed acute renal failure icd11.foundation:476391827 icd11.foundation MONDO:0002571 primary central nervous system lymphoma oio:hasExactSynonym primary central nervous system lymphoma primary central nervous system lymphoma Primary central nervous system lymphoma icd11.foundation:1133193893 Primary central nervous system lymphoma confirmed primary central nervous system lymphoma icd11.foundation:1133193893 icd11.foundation MONDO:0002660 blepharochalasis oio:hasExactSynonym blepharochalasis blepharochalasis Blepharochalasis icd11.foundation:583527617 Blepharochalasis confirmed blepharochalasis icd11.foundation:583527617 icd11.foundation -MONDO:0002684 atypical choroid plexus papilloma oio:hasExactSynonym atypical choroid plexus papilloma atypical choroid plexus papilloma Atypical choroid plexus papilloma icd11.foundation:1640044333 Atypical choroid plexus papilloma confirmed atypical choroid plexus papilloma icd11.foundation:1640044333 icd11.foundation MONDO:0002684 atypical choroid plexus papilloma oio:hasExactSynonym atypical choroid plexus papilloma icd11.foundation:1640044333 Atypical choroid plexus papilloma confirmed atypical choroid plexus papilloma icd11.foundation:1640044333 icd11.foundation +MONDO:0002684 atypical choroid plexus papilloma oio:hasExactSynonym atypical choroid plexus papilloma atypical choroid plexus papilloma Atypical choroid plexus papilloma icd11.foundation:1640044333 Atypical choroid plexus papilloma confirmed atypical choroid plexus papilloma icd11.foundation:1640044333 icd11.foundation MONDO:0002684 atypical choroid plexus papilloma oio:hasExactSynonym atypical papilloma of choroid plexus atypical papilloma of choroid plexus Atypical papilloma of choroid plexus icd11.foundation:1640044333 Atypical choroid plexus papilloma confirmed atypical papilloma of choroid plexus icd11.foundation:1640044333 icd11.foundation MONDO:0002697 ovarian gonadoblastoma oio:hasExactSynonym ovarian gonadoblastoma ovarian gonadoblastoma Ovarian gonadoblastoma icd11.foundation:1564602847 Ovarian gonadoblastoma confirmed ovarian gonadoblastoma icd11.foundation:1564602847 icd11.foundation MONDO:0002747 endometrial mucinous adenocarcinoma oio:hasExactSynonym endometrial mucinous adenocarcinoma endometrial mucinous adenocarcinoma Endometrial mucinous adenocarcinoma icd11.foundation:395055399 Endometrial mucinous adenocarcinoma confirmed endometrial mucinous adenocarcinoma icd11.foundation:395055399 icd11.foundation @@ -64932,6 +64930,7 @@ MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type oio:hasExactSynon MONDO:0012503 thiopurine S-methyltransferase deficiency oio:hasExactSynonym thiopurine S-methyltransferase deficiency thiopurine S-methyltransferase deficiency Thiopurine S-methyltransferase deficiency icd11.foundation:1916778396 Thiopurine S-methyltransferase deficiency confirmed thiopurine S-methyltransferase deficiency icd11.foundation:1916778396 icd11.foundation MONDO:0012521 herpes simplex encephalitis oio:hasExactSynonym Herpes simplex neuroinvasion Herpes simplex neuroinvasion herpes simplex neuroinvasion icd11.foundation:320069644 Encephalitis due to herpes simplex virus confirmed Herpes simplex neuroinvasion icd11.foundation:320069644 icd11.foundation MONDO:0012521 herpes simplex encephalitis oio:hasExactSynonym herpetic encephalitis icd11.foundation:320069644 Encephalitis due to herpes simplex virus confirmed herpetic encephalitis icd11.foundation:320069644 icd11.foundation +MONDO:0012545 neutral lipid storage myopathy oio:hasExactSynonym neutral lipid storage disease with myopathy without ichthyosis neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage disease with myopathy without ichthyosis icd11.foundation:1512138529 Neutral lipid storage myopathy confirmed neutral lipid storage disease with myopathy without ichthyosis icd11.foundation:1512138529 icd11.foundation MONDO:0012552 multiple endocrine neoplasia type 4 oio:hasExactSynonym multiple endocrine neoplasia type 4 multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 4 icd11.foundation:157945677 Multiple endocrine neoplasia type 4 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 4 icd11.foundation:157945677 icd11.foundation MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency oio:hasExactSynonym primary immunodeficiency syndrome with short stature primary immunodeficiency syndrome with short stature Primary immunodeficiency syndrome with short stature icd11.foundation:813140844 Primary immunodeficiency syndrome due to p14 deficiency confirmed primary immunodeficiency syndrome with short stature icd11.foundation:813140844 icd11.foundation MONDO:0012574 Potocki-Lupski syndrome oio:hasExactSynonym Potocki-Lupski syndrome icd11.foundation:1720095972 Potocki-Lupski syndrome confirmed Potocki-Lupski syndrome icd11.foundation:1720095972 icd11.foundation @@ -65485,6 +65484,7 @@ MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym Hamman-rich synd MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym acute interstitial pneumonitis acute interstitial pneumonitis Acute interstitial pneumonitis icd11.foundation:2116884221 Acute interstitial pneumonitis confirmed acute interstitial pneumonitis icd11.foundation:2116884221 icd11.foundation MONDO:0019209 Japanese encephalitis oio:hasExactSynonym Japanese B encephalitis icd11.foundation:961032639 Japanese encephalitis confirmed Japanese B encephalitis icd11.foundation:961032639 icd11.foundation MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym cutaneous neuroendocrine carcinoma cutaneous neuroendocrine carcinoma Cutaneous neuroendocrine carcinoma icd11.foundation:680322043 Cutaneous neuroendocrine carcinoma confirmed cutaneous neuroendocrine carcinoma icd11.foundation:680322043 icd11.foundation +MONDO:0019228 inborn disorder of histidine metabolism oio:hasExactSynonym disturbance of histidine metabolism disturbance of histidine metabolism Disturbance of histidine metabolism icd11.foundation:543162269 Disorders of histidine metabolism confirmed disturbance of histidine metabolism icd11.foundation:543162269 icd11.foundation MONDO:0019249 mucopolysaccharidosis oio:hasExactSynonym mucopolysaccharidosis mucopolysaccharidosis Mucopolysaccharidosis icd11.foundation:1596128696 Mucopolysaccharidosis confirmed mucopolysaccharidosis icd11.foundation:1596128696 icd11.foundation MONDO:0019260 adult neuronal ceroid lipofuscinosis oio:hasExactSynonym Kufs disease icd11.foundation:1460031344 Adult neuronal ceroid lipofuscinosis confirmed Kufs disease icd11.foundation:1460031344 icd11.foundation MONDO:0019260 adult neuronal ceroid lipofuscinosis oio:hasExactSynonym adult neuronal ceroid lipofuscinosis adult neuronal ceroid lipofuscinosis Adult neuronal ceroid lipofuscinosis icd11.foundation:1460031344 Adult neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed adult neuronal ceroid lipofuscinosis icd11.foundation:1460031344 icd11.foundation @@ -66241,8 +66241,8 @@ MONDO:0019547 Wells syndrome oio:hasExactSynonym oio:hasRelatedSynonym Wells' sy MONDO:0019560 lupus erythematosus tumidus oio:hasExactSynonym oio:hasRelatedSynonym tumid lupus erythematosus tumid lupus erythematosus Tumid lupus erythematosus icd11.foundation:153320433 Lupus erythematosus tumidus GARD:0013003 updated tumid lupus erythematosus icd11.foundation:153320433 icd11.foundation MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym von Willebrand disease von Willebrand disease Von Willebrand disease icd11.foundation:2112021600 Von Willebrand disease updated von Willebrand disease icd11.foundation:2112021600 icd11.foundation MONDO:0019565 hereditary von Willebrand disease oio:hasExactSynonym oio:hasBroadSynonym vascular haemophilia vascular haemophilia Vascular haemophilia icd11.foundation:2112021600 Von Willebrand disease http://purl.obolibrary.org/obo/OMO_0003005 updated vascular haemophilia icd11.foundation:2112021600 icd11.foundation -MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis updated Lyell syndrome icd11.foundation:1575072695 icd11.foundation MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis updated Lyell syndrome icd11.foundation:1575072695 icd11.foundation +MONDO:0019810 toxic epidermal necrolysis oio:hasExactSynonym oio:hasNarrowSynonym Lyell syndrome Lyell syndrome lyell syndrome icd11.foundation:1575072695 Toxic epidermal necrolysis updated Lyell syndrome icd11.foundation:1575072695 icd11.foundation MONDO:0019960 VIPoma oio:hasExactSynonym oio:hasRelatedSynonym WDHA syndrome icd11.foundation:20634476 VIPoma updated WDHA syndrome icd11.foundation:20634476 icd11.foundation MONDO:0020135 pontocerebellar hypoplasia oio:hasExactSynonym oio:hasNarrowSynonym nonsyndromic pontocerebellar hypoplasia nonsyndromic pontocerebellar hypoplasia Nonsyndromic pontocerebellar hypoplasia icd11.foundation:1565266279 Pontocerebellar hypoplasia ORCID:0000-0002-6601-2165 updated nonsyndromic pontocerebellar hypoplasia icd11.foundation:1565266279 icd11.foundation MONDO:0020338 adult pure red cell aplasia oio:hasExactSynonym oio:hasRelatedSynonym acquired pure red cell aplasia acquired pure red cell aplasia Acquired pure red cell aplasia icd11.foundation:45753120 Acquired pure red cell aplasia GARD:0010898 updated acquired pure red cell aplasia icd11.foundation:45753120 icd11.foundation @@ -82185,8 +82185,8 @@ MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A oio:hasExactSynonym WWS NCIT:C99109 Walker-Warburg Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WWS NCIT:C99109 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0000179 Neu-Laxova syndrome oio:hasExactSynonym nuclear localization signal nuclear localization signal Nuclear Localization Signal NCIT:C14089 Nuclear Localization Signal confirmed nuclear localization signal NCIT:C14089 NCIT MONDO:0000190 ventricular fibrillation oio:hasExactSynonym VFib NCIT:C50799 Ventricular Fibrillation confirmed VFib NCIT:C50799 NCIT -MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation VENTRICULAR FIBRILLATION NCIT:C50799 Ventricular Fibrillation confirmed ventricular fibrillation NCIT:C50799 NCIT MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation Ventricular Fibrillation NCIT:C50799 Ventricular Fibrillation confirmed ventricular fibrillation NCIT:C50799 NCIT +MONDO:0000190 ventricular fibrillation oio:hasExactSynonym ventricular fibrillation ventricular fibrillation VENTRICULAR FIBRILLATION NCIT:C50799 Ventricular Fibrillation confirmed ventricular fibrillation NCIT:C50799 NCIT MONDO:0000190 ventricular fibrillation oio:hasExactSynonym VF NCIT:C50799 Ventricular Fibrillation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed VF NCIT:C50799 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym autosomal recessive infantile hypercalcemia autosomal recessive infantile hypercalcemia Autosomal Recessive Infantile Hypercalcemia NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia confirmed autosomal recessive infantile hypercalcemia NCIT:C129734 NCIT MONDO:0000212 hypercalcemia, infantile oio:hasExactSynonym idiopathic infantile hypercalcemia idiopathic infantile hypercalcemia Idiopathic Infantile Hypercalcemia NCIT:C129734 Autosomal Recessive Infantile Hypercalcemia http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed idiopathic infantile hypercalcemia NCIT:C129734 NCIT @@ -82228,8 +82228,8 @@ MONDO:0000372 pharynx carcinoma in situ oio:hasExactSynonym stage 0 pharyngeal MONDO:0000372 pharynx carcinoma in situ oio:hasExactSynonym stage 0 pharyngeal carcinoma stage 0 pharyngeal carcinoma Stage 0 Pharyngeal Carcinoma NCIT:C4942 Stage 0 Pharyngeal Cancer confirmed stage 0 pharyngeal carcinoma NCIT:C4942 NCIT MONDO:0000372 pharynx carcinoma in situ oio:hasExactSynonym stage 0 pharyngeal throat cancer stage 0 pharyngeal throat cancer Stage 0 Pharyngeal Throat Cancer NCIT:C4942 Stage 0 Pharyngeal Cancer confirmed stage 0 pharyngeal throat cancer NCIT:C4942 NCIT MONDO:0000372 pharynx carcinoma in situ oio:hasExactSynonym stage 0 pharynx carcinoma stage 0 pharynx carcinoma Stage 0 Pharynx Carcinoma NCIT:C4942 Stage 0 Pharyngeal Cancer confirmed stage 0 pharynx carcinoma NCIT:C4942 NCIT -MONDO:0000377 malignant Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, malignant NCIT:C4213 Malignant Leydig Cell Tumor confirmed Leydig cell tumor, malignant NCIT:C4213 NCIT MONDO:0000377 malignant Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, malignant Leydig cell tumor, malignant LEYDIG CELL TUMOR, MALIGNANT NCIT:C4213 Malignant Leydig Cell Tumor confirmed Leydig cell tumor, malignant NCIT:C4213 NCIT +MONDO:0000377 malignant Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, malignant NCIT:C4213 Malignant Leydig Cell Tumor confirmed Leydig cell tumor, malignant NCIT:C4213 NCIT MONDO:0000377 malignant Leydig cell tumor oio:hasExactSynonym malignant Leydig cell neoplasm malignant Leydig cell neoplasm Malignant Leydig Cell Neoplasm NCIT:C4213 Malignant Leydig Cell Tumor confirmed malignant Leydig cell neoplasm NCIT:C4213 NCIT MONDO:0000377 malignant Leydig cell tumor oio:hasExactSynonym malignant interstitial cell neoplasm malignant interstitial cell neoplasm Malignant Interstitial Cell Neoplasm NCIT:C4213 Malignant Leydig Cell Tumor confirmed malignant interstitial cell neoplasm NCIT:C4213 NCIT MONDO:0000378 malignant Sertoli cell tumor oio:hasExactSynonym Sertoli cell tumor, malignant Sertoli cell tumor, malignant SERTOLI CELL TUMOR, MALIGNANT NCIT:C67006 Malignant Sertoli Cell Tumor confirmed Sertoli cell tumor, malignant NCIT:C67006 NCIT @@ -82335,8 +82335,8 @@ MONDO:0000473 arterial disorder oio:hasExactSynonym arterial disorder arterial MONDO:0000473 arterial disorder oio:hasExactSynonym arteriopathy arteriopathy Arteriopathy NCIT:C35317 Arterial Disorder confirmed arteriopathy NCIT:C35317 NCIT MONDO:0000490 glomerulosclerosis oio:hasExactSynonym glomerular sclerosis glomerular sclerosis Glomerular Sclerosis NCIT:C120888 Glomerulosclerosis confirmed glomerular sclerosis NCIT:C120888 NCIT MONDO:0000495 oppositional defiant disorder oio:hasExactSynonym oppositional defiant disorder oppositional defiant disorder Oppositional Defiant Disorder NCIT:C92565 Oppositional Defiant Disorder confirmed oppositional defiant disorder NCIT:C92565 NCIT -MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra PYOMETRA NCIT:C121207 Pyometra confirmed pyometra NCIT:C121207 NCIT MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra Pyometra NCIT:C121207 Pyometra confirmed pyometra NCIT:C121207 NCIT +MONDO:0000497 pyometritis oio:hasExactSynonym pyometra pyometra PYOMETRA NCIT:C121207 Pyometra confirmed pyometra NCIT:C121207 NCIT MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym scc of the tongue scc of the tongue SCC of the Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma confirmed scc of the tongue NCIT:C4648 NCIT MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym scc of tongue scc of tongue SCC of Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma confirmed scc of tongue NCIT:C4648 NCIT MONDO:0000500 tongue squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the tongue squamous cell carcinoma of the tongue Squamous Cell Carcinoma of the Tongue NCIT:C4648 Tongue Squamous Cell Carcinoma confirmed squamous cell carcinoma of the tongue NCIT:C4648 NCIT @@ -82375,8 +82375,8 @@ MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal sympathetic Paraganglionic neoplasm extra-adrenal sympathetic Paraganglionic neoplasm Extra-Adrenal Sympathetic Paraganglionic Neoplasm NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma confirmed extra-adrenal sympathetic Paraganglionic neoplasm NCIT:C48576 NCIT MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extra-adrenal sympathetic paraganglioma extra-adrenal sympathetic paraganglioma Extra-Adrenal Sympathetic Paraganglioma NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma confirmed extra-adrenal sympathetic paraganglioma NCIT:C48576 NCIT MONDO:0000550 extra-adrenal sympathetic paraganglioma oio:hasExactSynonym extraadrenal pheochromocytoma extraadrenal pheochromocytoma Extraadrenal Pheochromocytoma NCIT:C48576 Extra-Adrenal Sympathetic Paraganglioma confirmed extraadrenal pheochromocytoma NCIT:C48576 NCIT -MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular Adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular adenocarcinoma NCIT:C3771 NCIT MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular adenocarcinoma NCIT:C3771 NCIT +MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular adenocarcinoma lobular adenocarcinoma Lobular Adenocarcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular adenocarcinoma NCIT:C3771 NCIT MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular breast carcinoma lobular breast carcinoma Lobular Breast Carcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular breast carcinoma NCIT:C3771 NCIT MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma lobular carcinoma Lobular Carcinoma NCIT:C3771 Breast Lobular Carcinoma confirmed lobular carcinoma NCIT:C3771 NCIT MONDO:0000552 breast lobular carcinoma oio:hasExactSynonym lobular carcinoma of breast lobular carcinoma of breast Lobular Carcinoma of Breast NCIT:C3771 Breast Lobular Carcinoma confirmed lobular carcinoma of breast NCIT:C3771 NCIT @@ -82669,8 +82669,8 @@ MONDO:0000929 balloon cell malignant melanoma oio:hasExactSynonym balloon cell MONDO:0000929 balloon cell malignant melanoma oio:hasExactSynonym balloon cell malignant melanoma of skin balloon cell malignant melanoma of skin Balloon Cell Malignant Melanoma of Skin NCIT:C4227 Balloon Cell Melanoma confirmed balloon cell malignant melanoma of skin NCIT:C4227 NCIT MONDO:0000929 balloon cell malignant melanoma oio:hasExactSynonym balloon cell malignant melanoma of the skin balloon cell malignant melanoma of the skin Balloon Cell Malignant Melanoma of the Skin NCIT:C4227 Balloon Cell Melanoma confirmed balloon cell malignant melanoma of the skin NCIT:C4227 NCIT MONDO:0000929 balloon cell malignant melanoma oio:hasExactSynonym balloon cell malignant skin melanoma balloon cell malignant skin melanoma Balloon Cell Malignant Skin Melanoma NCIT:C4227 Balloon Cell Melanoma confirmed balloon cell malignant skin melanoma NCIT:C4227 NCIT -MONDO:0000929 balloon cell malignant melanoma oio:hasExactSynonym balloon cell melanoma balloon cell melanoma Balloon Cell Melanoma NCIT:C4227 Balloon Cell Melanoma confirmed balloon cell melanoma NCIT:C4227 NCIT MONDO:0000929 balloon cell malignant melanoma oio:hasExactSynonym balloon cell melanoma balloon cell melanoma Balloon cell melanoma NCIT:C4227 Balloon Cell Melanoma confirmed balloon cell melanoma NCIT:C4227 NCIT +MONDO:0000929 balloon cell malignant melanoma oio:hasExactSynonym balloon cell melanoma balloon cell melanoma Balloon Cell Melanoma NCIT:C4227 Balloon Cell Melanoma confirmed balloon cell melanoma NCIT:C4227 NCIT MONDO:0000929 balloon cell malignant melanoma oio:hasExactSynonym balloon cell skin melanoma balloon cell skin melanoma Balloon Cell Skin Melanoma NCIT:C4227 Balloon Cell Melanoma confirmed balloon cell skin melanoma NCIT:C4227 NCIT MONDO:0000930 nodular malignant melanoma oio:hasExactSynonym nodular cutaneous (skin) melanoma nodular cutaneous (skin) melanoma Nodular Cutaneous (Skin) Melanoma NCIT:C4225 Cutaneous Nodular Melanoma confirmed nodular cutaneous (skin) melanoma NCIT:C4225 NCIT MONDO:0000930 nodular malignant melanoma oio:hasExactSynonym nodular malignant melanoma of skin nodular malignant melanoma of skin Nodular Malignant Melanoma of Skin NCIT:C4225 Cutaneous Nodular Melanoma confirmed nodular malignant melanoma of skin NCIT:C4225 NCIT @@ -82736,8 +82736,8 @@ MONDO:0000965 liver lipoma oio:hasExactSynonym hepatic lipoma hepatic lipoma He MONDO:0000965 liver lipoma oio:hasExactSynonym lipoma of liver lipoma of liver Lipoma of Liver NCIT:C5750 Liver Lipoma confirmed lipoma of liver NCIT:C5750 NCIT MONDO:0000965 liver lipoma oio:hasExactSynonym lipoma of the liver lipoma of the liver Lipoma of the Liver NCIT:C5750 Liver Lipoma confirmed lipoma of the liver NCIT:C5750 NCIT MONDO:0000965 liver lipoma oio:hasExactSynonym liver lipoma liver lipoma Liver Lipoma NCIT:C5750 Liver Lipoma confirmed liver lipoma NCIT:C5750 NCIT -MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic Lipoma NCIT:C3703 Pleomorphic Lipoma confirmed pleomorphic lipoma NCIT:C3703 NCIT MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic lipoma NCIT:C3703 Pleomorphic Lipoma confirmed pleomorphic lipoma NCIT:C3703 NCIT +MONDO:0000966 pleomorphic lipoma oio:hasExactSynonym pleomorphic lipoma pleomorphic lipoma Pleomorphic Lipoma NCIT:C3703 Pleomorphic Lipoma confirmed pleomorphic lipoma NCIT:C3703 NCIT MONDO:0000967 conventional lipoma oio:hasExactSynonym classic type lipoma classic type lipoma Classic Type Lipoma NCIT:C27530 Conventional Lipoma confirmed classic type lipoma NCIT:C27530 NCIT MONDO:0000967 conventional lipoma oio:hasExactSynonym conventional lipoma conventional lipoma Conventional Lipoma NCIT:C27530 Conventional Lipoma confirmed conventional lipoma NCIT:C27530 NCIT MONDO:0000968 kidney lipoma oio:hasExactSynonym kidney lipoma kidney lipoma Kidney Lipoma NCIT:C5101 Kidney Lipoma confirmed kidney lipoma NCIT:C5101 NCIT @@ -83286,8 +83286,8 @@ MONDO:0001563 vestibulocochlear nerve disorder oio:hasExactSynonym vestibulococ MONDO:0001564 binocular vision disease oio:hasExactSynonym binocular vision disorder binocular vision disorder Binocular Vision Disorder NCIT:C34422 Binocular Vision Disorder confirmed binocular vision disorder NCIT:C34422 NCIT MONDO:0001566 hypercalcemia disease oio:hasExactSynonym hypercalcemia hypercalcemia Hypercalcemia NCIT:C3112 Hypercalcemia confirmed hypercalcemia NCIT:C3112 NCIT MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neurilemmoma acoustic neurilemmoma Acoustic Neurilemmoma NCIT:C3276 Vestibular Schwannoma confirmed acoustic neurilemmoma NCIT:C3276 NCIT -MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neuroma acoustic neuroma Acoustic Neuroma NCIT:C3276 Vestibular Schwannoma confirmed acoustic neuroma NCIT:C3276 NCIT MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neuroma acoustic neuroma Acoustic neuroma NCIT:C3276 Vestibular Schwannoma confirmed acoustic neuroma NCIT:C3276 NCIT +MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic neuroma acoustic neuroma Acoustic Neuroma NCIT:C3276 Vestibular Schwannoma confirmed acoustic neuroma NCIT:C3276 NCIT MONDO:0001569 acoustic neuroma oio:hasExactSynonym acoustic schwannoma acoustic schwannoma Acoustic Schwannoma NCIT:C3276 Vestibular Schwannoma confirmed acoustic schwannoma NCIT:C3276 NCIT MONDO:0001569 acoustic neuroma oio:hasExactSynonym neurilemoma, acoustic neurilemoma, acoustic Neurilemoma, Acoustic NCIT:C3276 Vestibular Schwannoma confirmed neurilemoma, acoustic NCIT:C3276 NCIT MONDO:0001569 acoustic neuroma oio:hasExactSynonym neuroma, acoustic neuroma, acoustic Neuroma, Acoustic NCIT:C3276 Vestibular Schwannoma confirmed neuroma, acoustic NCIT:C3276 NCIT @@ -83775,8 +83775,8 @@ MONDO:0002056 breast fibroadenoma oio:hasExactSynonym fibroadenoma, benign fibr MONDO:0002057 breast leiomyoma oio:hasExactSynonym breast leiomyoma breast leiomyoma Breast Leiomyoma NCIT:C40399 Breast Leiomyoma confirmed breast leiomyoma NCIT:C40399 NCIT MONDO:0002058 breast adenoma oio:hasExactSynonym breast adenoma breast adenoma Breast Adenoma NCIT:C40382 Breast Adenoma confirmed breast adenoma NCIT:C40382 NCIT MONDO:0002060 intraductal papilloma oio:hasExactSynonym duct adenoma duct adenoma Duct Adenoma NCIT:C3785 Intraductal Papilloma confirmed duct adenoma NCIT:C3785 NCIT -MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal Papilloma NCIT:C3785 Intraductal Papilloma confirmed ductal papilloma NCIT:C3785 NCIT MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal papilloma NCIT:C3785 Intraductal Papilloma confirmed ductal papilloma NCIT:C3785 NCIT +MONDO:0002060 intraductal papilloma oio:hasExactSynonym ductal papilloma ductal papilloma Ductal Papilloma NCIT:C3785 Intraductal Papilloma confirmed ductal papilloma NCIT:C3785 NCIT MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal papilloma NCIT:C3785 Intraductal Papilloma confirmed intraductal papilloma NCIT:C3785 NCIT MONDO:0002060 intraductal papilloma oio:hasExactSynonym intraductal papilloma intraductal papilloma Intraductal Papilloma NCIT:C3785 Intraductal Papilloma confirmed intraductal papilloma NCIT:C3785 NCIT MONDO:0002061 intraductal papillary breast neoplasm oio:hasExactSynonym intraductal papillary breast neoplasm intraductal papillary breast neoplasm Intraductal Papillary Breast Neoplasm NCIT:C36090 Breast Intraductal Papillary Neoplasm confirmed intraductal papillary breast neoplasm NCIT:C36090 NCIT @@ -83792,8 +83792,8 @@ MONDO:0002071 supratentorial cancer oio:hasExactSynonym malignant supratentoria MONDO:0002071 supratentorial cancer oio:hasExactSynonym malignant supratentorial tumor malignant supratentorial tumor Malignant Supratentorial Tumor NCIT:C4964 Malignant Supratentorial Neoplasm confirmed malignant supratentorial tumor NCIT:C4964 NCIT MONDO:0002071 supratentorial cancer oio:hasExactSynonym supratentorial neoplasms, malignant supratentorial neoplasms, malignant Supratentorial Neoplasms, Malignant NCIT:C4964 Malignant Supratentorial Neoplasm confirmed supratentorial neoplasms, malignant NCIT:C4964 NCIT MONDO:0002072 melanotic neuroectodermal tumor oio:hasExactSynonym infantile melanotic neuroectodermal neoplasm infantile melanotic neuroectodermal neoplasm Infantile Melanotic Neuroectodermal Neoplasm NCIT:C3717 Melanotic Neuroectodermal Tumor confirmed infantile melanotic neuroectodermal neoplasm NCIT:C3717 NCIT -MONDO:0002072 melanotic neuroectodermal tumor oio:hasExactSynonym melanotic Progonoma melanotic Progonoma Melanotic Progonoma NCIT:C3717 Melanotic Neuroectodermal Tumor confirmed melanotic Progonoma NCIT:C3717 NCIT MONDO:0002072 melanotic neuroectodermal tumor oio:hasExactSynonym melanotic Progonoma melanotic Progonoma Melanotic progonoma NCIT:C3717 Melanotic Neuroectodermal Tumor confirmed melanotic Progonoma NCIT:C3717 NCIT +MONDO:0002072 melanotic neuroectodermal tumor oio:hasExactSynonym melanotic Progonoma melanotic Progonoma Melanotic Progonoma NCIT:C3717 Melanotic Neuroectodermal Tumor confirmed melanotic Progonoma NCIT:C3717 NCIT MONDO:0002072 melanotic neuroectodermal tumor oio:hasExactSynonym melanotic neuroectodermal tumor of infancy melanotic neuroectodermal tumor of infancy Melanotic Neuroectodermal Tumor of Infancy NCIT:C3717 Melanotic Neuroectodermal Tumor confirmed melanotic neuroectodermal tumor of infancy NCIT:C3717 NCIT MONDO:0002072 melanotic neuroectodermal tumor oio:hasExactSynonym pigmented neuroectodermal tumor pigmented neuroectodermal tumor Pigmented Neuroectodermal Tumor NCIT:C3717 Melanotic Neuroectodermal Tumor confirmed pigmented neuroectodermal tumor NCIT:C3717 NCIT MONDO:0002072 melanotic neuroectodermal tumor oio:hasExactSynonym retinal anlage neoplasm retinal anlage neoplasm Retinal Anlage Neoplasm NCIT:C3717 Melanotic Neuroectodermal Tumor confirmed retinal anlage neoplasm NCIT:C3717 NCIT @@ -83914,8 +83914,8 @@ MONDO:0002109 pituitary cancer oio:hasExactSynonym malignant tumor of the pitui MONDO:0002109 pituitary cancer oio:hasExactSynonym pituitary neoplasms, malignant pituitary neoplasms, malignant Pituitary Neoplasms, Malignant NCIT:C4769 Malignant Pituitary Gland Neoplasm confirmed pituitary neoplasms, malignant NCIT:C4769 NCIT MONDO:0002109 pituitary cancer oio:hasExactSynonym pituitary tumor, malignant pituitary tumor, malignant Pituitary Tumor, Malignant NCIT:C4769 Malignant Pituitary Gland Neoplasm confirmed pituitary tumor, malignant NCIT:C4769 NCIT MONDO:0002110 adrenal rest tumor oio:hasExactSynonym adrenal rest neoplasm adrenal rest neoplasm Adrenal Rest Neoplasm NCIT:C2860 Adrenal Rest Tumor confirmed adrenal rest neoplasm NCIT:C2860 NCIT -MONDO:0002110 adrenal rest tumor oio:hasExactSynonym adrenal rest tumor adrenal rest tumor Adrenal Rest Tumor NCIT:C2860 Adrenal Rest Tumor confirmed adrenal rest tumor NCIT:C2860 NCIT MONDO:0002110 adrenal rest tumor oio:hasExactSynonym adrenal rest tumor adrenal rest tumor Adrenal rest tumor NCIT:C2860 Adrenal Rest Tumor confirmed adrenal rest tumor NCIT:C2860 NCIT +MONDO:0002110 adrenal rest tumor oio:hasExactSynonym adrenal rest tumor adrenal rest tumor Adrenal Rest Tumor NCIT:C2860 Adrenal Rest Tumor confirmed adrenal rest tumor NCIT:C2860 NCIT MONDO:0002112 benign peritoneal mesothelioma oio:hasExactSynonym peritoneal adenomatoid tumor peritoneal adenomatoid tumor Peritoneal Adenomatoid Tumor NCIT:C7354 Peritoneal Adenomatoid Tumor confirmed peritoneal adenomatoid tumor NCIT:C7354 NCIT MONDO:0002114 pancreas lymphoma oio:hasExactSynonym lymphoma of pancreas lymphoma of pancreas Lymphoma of Pancreas NCIT:C5714 Pancreatic Lymphoma confirmed lymphoma of pancreas NCIT:C5714 NCIT MONDO:0002114 pancreas lymphoma oio:hasExactSynonym lymphoma of the pancreas lymphoma of the pancreas Lymphoma of the Pancreas NCIT:C5714 Pancreatic Lymphoma confirmed lymphoma of the pancreas NCIT:C5714 NCIT @@ -83937,8 +83937,8 @@ MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying MONDO:0002119 ossifying fibroma oio:hasExactSynonym ossifying fibroma ossifying fibroma Ossifying fibroma NCIT:C173820 Ossifying Fibroma confirmed ossifying fibroma NCIT:C173820 NCIT MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma Cementifying fibroma Cementifying Fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed Cementifying fibroma NCIT:C8422 NCIT MONDO:0002119 ossifying fibroma oio:hasExactSynonym Cementifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed Cementifying fibroma NCIT:C8422 NCIT -MONDO:0002119 ossifying fibroma oio:hasExactSynonym cemento-ossifying fibroma cemento-ossifying fibroma Cemento-Ossifying Fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed cemento-ossifying fibroma NCIT:C8422 NCIT MONDO:0002119 ossifying fibroma oio:hasExactSynonym cemento-ossifying fibroma cemento-ossifying fibroma Cemento-ossifying fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed cemento-ossifying fibroma NCIT:C8422 NCIT +MONDO:0002119 ossifying fibroma oio:hasExactSynonym cemento-ossifying fibroma cemento-ossifying fibroma Cemento-Ossifying Fibroma NCIT:C8422 Cemento-Ossifying Fibroma confirmed cemento-ossifying fibroma NCIT:C8422 NCIT MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym neuroendocrine cancer neuroendocrine cancer Neuroendocrine Cancer NCIT:C3773 Neuroendocrine Carcinoma confirmed neuroendocrine cancer NCIT:C3773 NCIT MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym neuroendocrine carcinoma neuroendocrine carcinoma Neuroendocrine Carcinoma NCIT:C3773 Neuroendocrine Carcinoma confirmed neuroendocrine carcinoma NCIT:C3773 NCIT MONDO:0002120 neuroendocrine carcinoma oio:hasExactSynonym NEC NCIT:C3773 Neuroendocrine Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NEC NCIT:C3773 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -83979,14 +83979,14 @@ MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym Storifor MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym Storiform-pleomorphic malignant fibrous histiocytoma Storiform-pleomorphic malignant fibrous histiocytoma Storiform-Pleomorphic Malignant Fibrous Histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed Storiform-pleomorphic malignant fibrous histiocytoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym fibroxanthosarcoma fibroxanthosarcoma Fibroxanthosarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed fibroxanthosarcoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym histiocytoma, fibrous, malignant histiocytoma, fibrous, malignant Histiocytoma, Fibrous, Malignant NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed histiocytoma, fibrous, malignant NCIT:C4247 NCIT -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant Fibrous Histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant fibrous histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma NCIT:C4247 NCIT +MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma malignant fibrous histiocytoma Malignant Fibrous Histiocytoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma of soft tissue and bone malignant fibrous histiocytoma of soft tissue and bone Malignant Fibrous Histiocytoma of Soft Tissue and Bone NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma of soft tissue and bone NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibrous histiocytoma of the soft tissue and bone malignant fibrous histiocytoma of the soft tissue and bone Malignant Fibrous Histiocytoma of the Soft Tissue and Bone NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibrous histiocytoma of the soft tissue and bone NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym malignant fibroxanthoma malignant fibroxanthoma Malignant Fibroxanthoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed malignant fibroxanthoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym unclassified pleomorphic sarcoma unclassified pleomorphic sarcoma Unclassified Pleomorphic Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed unclassified pleomorphic sarcoma NCIT:C4247 NCIT -MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated Pleomorphic Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed undifferentiated pleomorphic sarcoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated pleomorphic sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed undifferentiated pleomorphic sarcoma NCIT:C4247 NCIT +MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic sarcoma undifferentiated pleomorphic sarcoma Undifferentiated Pleomorphic Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed undifferentiated pleomorphic sarcoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym undifferentiated pleomorphic soft tissue sarcoma undifferentiated pleomorphic soft tissue sarcoma Undifferentiated Pleomorphic Soft Tissue Sarcoma NCIT:C4247 Undifferentiated Pleomorphic Sarcoma confirmed undifferentiated pleomorphic soft tissue sarcoma NCIT:C4247 NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym MFH NCIT:C4247 Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MFH NCIT:C4247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0002142 undifferentiated pleomorphic sarcoma oio:hasExactSynonym UPS NCIT:C4247 Undifferentiated Pleomorphic Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed UPS NCIT:C4247 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -84062,8 +84062,8 @@ MONDO:0002185 hyperostosis oio:hasExactSynonym bone hypertrophy bone hypertroph MONDO:0002187 vulvar disease oio:hasExactSynonym vulvar disease vulvar disease Vulvar Disease NCIT:C27631 Vulvar Disorder confirmed vulvar disease NCIT:C27631 NCIT MONDO:0002187 vulvar disease oio:hasExactSynonym vulvar disorder vulvar disorder Vulvar Disorder NCIT:C27631 Vulvar Disorder confirmed vulvar disorder NCIT:C27631 NCIT MONDO:0002188 vulvar nodular hidradenoma oio:hasExactSynonym vulvar nodular hidradenoma vulvar nodular hidradenoma Vulvar Nodular Hidradenoma NCIT:C40312 Vulvar Nodular Hidradenoma confirmed vulvar nodular hidradenoma NCIT:C40312 NCIT -MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular hidradenoma NCIT:C7568 Nodular Hidradenoma confirmed nodular hidradenoma NCIT:C7568 NCIT MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular Hidradenoma NCIT:C7568 Nodular Hidradenoma confirmed nodular hidradenoma NCIT:C7568 NCIT +MONDO:0002189 nodular hidradenoma oio:hasExactSynonym nodular hidradenoma nodular hidradenoma Nodular hidradenoma NCIT:C7568 Nodular Hidradenoma confirmed nodular hidradenoma NCIT:C7568 NCIT MONDO:0002190 vulvar syringoma oio:hasExactSynonym vulvar syringoma vulvar syringoma Vulvar Syringoma NCIT:C40311 Vulvar Syringoma confirmed vulvar syringoma NCIT:C40311 NCIT MONDO:0002191 syringoma oio:hasExactSynonym eccrine syringoma eccrine syringoma Eccrine Syringoma NCIT:C3761 Syringoma confirmed eccrine syringoma NCIT:C3761 NCIT MONDO:0002191 syringoma oio:hasExactSynonym syringoma syringoma Syringoma NCIT:C3761 Syringoma confirmed syringoma NCIT:C3761 NCIT @@ -84344,8 +84344,8 @@ MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym carcinoma of larynx carci MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym carcinoma of the larynx carcinoma of the larynx Carcinoma of the Larynx NCIT:C4855 Laryngeal Carcinoma confirmed carcinoma of the larynx NCIT:C4855 NCIT MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym laryngeal carcinoma laryngeal carcinoma Laryngeal Carcinoma NCIT:C4855 Laryngeal Carcinoma confirmed laryngeal carcinoma NCIT:C4855 NCIT MONDO:0002358 laryngeal carcinoma oio:hasExactSynonym larynx carcinoma larynx carcinoma Larynx Carcinoma NCIT:C4855 Laryngeal Carcinoma confirmed larynx carcinoma NCIT:C4855 NCIT -MONDO:0002359 periosteal chondroma oio:hasExactSynonym juxtacortical chondroma juxtacortical chondroma Juxtacortical chondroma NCIT:C4302 Periosteal Chondroma confirmed juxtacortical chondroma NCIT:C4302 NCIT MONDO:0002359 periosteal chondroma oio:hasExactSynonym juxtacortical chondroma juxtacortical chondroma Juxtacortical Chondroma NCIT:C4302 Periosteal Chondroma confirmed juxtacortical chondroma NCIT:C4302 NCIT +MONDO:0002359 periosteal chondroma oio:hasExactSynonym juxtacortical chondroma juxtacortical chondroma Juxtacortical chondroma NCIT:C4302 Periosteal Chondroma confirmed juxtacortical chondroma NCIT:C4302 NCIT MONDO:0002359 periosteal chondroma oio:hasExactSynonym periosteal chondroma periosteal chondroma Periosteal chondroma NCIT:C4302 Periosteal Chondroma confirmed periosteal chondroma NCIT:C4302 NCIT MONDO:0002359 periosteal chondroma oio:hasExactSynonym periosteal chondroma periosteal chondroma Periosteal Chondroma NCIT:C4302 Periosteal Chondroma confirmed periosteal chondroma NCIT:C4302 NCIT MONDO:0002360 chondroma oio:hasExactSynonym chondroma chondroma Chondroma NCIT:C53459 Chondroma confirmed chondroma NCIT:C53459 NCIT @@ -84420,8 +84420,8 @@ MONDO:0002378 dermoid cyst oio:hasExactSynonym mature cystic teratoma mature cy MONDO:0002378 dermoid cyst oio:hasExactSynonym subcutaneous cystic teratoma subcutaneous cystic teratoma Subcutaneous Cystic Teratoma NCIT:C9011 Dermoid Cyst confirmed subcutaneous cystic teratoma NCIT:C9011 NCIT MONDO:0002379 cystic teratoma oio:hasExactSynonym cystic teratoma cystic teratoma Cystic Teratoma NCIT:C9014 Cystic Teratoma confirmed cystic teratoma NCIT:C9014 NCIT MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial neoplasm myoepithelial neoplasm Myoepithelial Neoplasm NCIT:C40392 Myoepithelial Tumor confirmed myoepithelial neoplasm NCIT:C40392 NCIT -MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial tumor myoepithelial tumor Myoepithelial tumor NCIT:C40392 Myoepithelial Tumor confirmed myoepithelial tumor NCIT:C40392 NCIT MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial tumor myoepithelial tumor Myoepithelial Tumor NCIT:C40392 Myoepithelial Tumor confirmed myoepithelial tumor NCIT:C40392 NCIT +MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelial tumor myoepithelial tumor Myoepithelial tumor NCIT:C40392 Myoepithelial Tumor confirmed myoepithelial tumor NCIT:C40392 NCIT MONDO:0002380 myoepithelial tumor oio:hasExactSynonym myoepithelioma myoepithelioma Myoepithelioma NCIT:C40392 Myoepithelial Tumor confirmed myoepithelioma NCIT:C40392 NCIT MONDO:0002381 sweat gland neoplasm oio:hasExactSynonym neoplasm of sweat gland neoplasm of sweat gland Neoplasm of Sweat Gland NCIT:C3398 Sweat Gland Neoplasm confirmed neoplasm of sweat gland NCIT:C3398 NCIT MONDO:0002381 sweat gland neoplasm oio:hasExactSynonym neoplasm of the sweat gland neoplasm of the sweat gland Neoplasm of the Sweat Gland NCIT:C3398 Sweat Gland Neoplasm confirmed neoplasm of the sweat gland NCIT:C3398 NCIT @@ -84525,8 +84525,8 @@ MONDO:0002418 ethmoid sinus adenocarcinoma oio:hasExactSynonym adenocarcinoma o MONDO:0002419 transient tic disorder oio:hasExactSynonym benign Tic disorder of childhood benign Tic disorder of childhood Benign Tic Disorder of Childhood NCIT:C116767 Transient Tic Disorder confirmed benign Tic disorder of childhood NCIT:C116767 NCIT MONDO:0002422 adamantinoma oio:hasExactSynonym Extragnathic adamantinoma Extragnathic adamantinoma Extragnathic Adamantinoma NCIT:C7644 Adamantinoma confirmed Extragnathic adamantinoma NCIT:C7644 NCIT MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma adamantinoma Adamantinoma NCIT:C7644 Adamantinoma confirmed adamantinoma NCIT:C7644 NCIT -MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of Long Bones NCIT:C7644 Adamantinoma confirmed adamantinoma of long bones NCIT:C7644 NCIT MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of long bones NCIT:C7644 Adamantinoma confirmed adamantinoma of long bones NCIT:C7644 NCIT +MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma of long bones adamantinoma of long bones Adamantinoma of Long Bones NCIT:C7644 Adamantinoma confirmed adamantinoma of long bones NCIT:C7644 NCIT MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant ADAMANTINOMA, MALIGNANT NCIT:C7644 Adamantinoma confirmed adamantinoma, malignant NCIT:C7644 NCIT MONDO:0002422 adamantinoma oio:hasExactSynonym adamantinoma, malignant adamantinoma, malignant Adamantinoma, malignant NCIT:C7644 Adamantinoma confirmed adamantinoma, malignant NCIT:C7644 NCIT MONDO:0002423 rectosigmoid junction neoplasm oio:hasExactSynonym neoplasm of rectosigmoid junction neoplasm of rectosigmoid junction Neoplasm of Rectosigmoid Junction NCIT:C4877 Rectosigmoid Neoplasm confirmed neoplasm of rectosigmoid junction NCIT:C4877 NCIT @@ -84632,8 +84632,8 @@ MONDO:0002460 lacrimal system cancer oio:hasExactSynonym tumor of lacrimal syst MONDO:0002460 lacrimal system cancer oio:hasExactSynonym tumor of the lacrimal system tumor of the lacrimal system Tumor of the Lacrimal System NCIT:C5102 Lacrimal System Neoplasm confirmed tumor of the lacrimal system NCIT:C5102 NCIT MONDO:0002461 membranoproliferative glomerulonephritis oio:hasExactSynonym membranoproliferative glomerulonephritis membranoproliferative glomerulonephritis Membranoproliferative Glomerulonephritis NCIT:C34644 Membranoproliferative Glomerulonephritis confirmed membranoproliferative glomerulonephritis NCIT:C34644 NCIT MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerular nephritis glomerular nephritis Glomerular Nephritis NCIT:C26784 Glomerulonephritis confirmed glomerular nephritis NCIT:C26784 NCIT -MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis Glomerulonephritis NCIT:C26784 Glomerulonephritis confirmed glomerulonephritis NCIT:C26784 NCIT MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis GLOMERULONEPHRITIS NCIT:C26784 Glomerulonephritis confirmed glomerulonephritis NCIT:C26784 NCIT +MONDO:0002462 glomerulonephritis oio:hasExactSynonym glomerulonephritis glomerulonephritis Glomerulonephritis NCIT:C26784 Glomerulonephritis confirmed glomerulonephritis NCIT:C26784 NCIT MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym carcinoma of lacrimal gland carcinoma of lacrimal gland Carcinoma of Lacrimal Gland NCIT:C6129 Lacrimal Gland Carcinoma confirmed carcinoma of lacrimal gland NCIT:C6129 NCIT MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym carcinoma of the lacrimal gland carcinoma of the lacrimal gland Carcinoma of the Lacrimal Gland NCIT:C6129 Lacrimal Gland Carcinoma confirmed carcinoma of the lacrimal gland NCIT:C6129 NCIT MONDO:0002463 lacrimal gland carcinoma oio:hasExactSynonym lacrimal gland carcinoma lacrimal gland carcinoma Lacrimal Gland Carcinoma NCIT:C6129 Lacrimal Gland Carcinoma confirmed lacrimal gland carcinoma NCIT:C6129 NCIT @@ -84663,8 +84663,8 @@ MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma oio:hasExactSynony MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma oio:hasExactSynonym malignant mixed tumor of lacrimal gland malignant mixed tumor of lacrimal gland Malignant Mixed Tumor of Lacrimal Gland NCIT:C6804 Lacrimal Gland Carcinoma ex Pleomorphic Adenoma confirmed malignant mixed tumor of lacrimal gland NCIT:C6804 NCIT MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma oio:hasExactSynonym malignant mixed tumor of the lacrimal gland malignant mixed tumor of the lacrimal gland Malignant Mixed Tumor of the Lacrimal Gland NCIT:C6804 Lacrimal Gland Carcinoma ex Pleomorphic Adenoma confirmed malignant mixed tumor of the lacrimal gland NCIT:C6804 NCIT MONDO:0002472 carcinoma ex pleomorphic adenoma oio:hasExactSynonym carcinoma ex pleomorphic adenoma carcinoma ex pleomorphic adenoma Carcinoma ex Pleomorphic Adenoma NCIT:C4397 Carcinoma ex Pleomorphic Adenoma confirmed carcinoma ex pleomorphic adenoma NCIT:C4397 NCIT -MONDO:0002472 carcinoma ex pleomorphic adenoma oio:hasExactSynonym carcinoma in pleomorphic adenoma carcinoma in pleomorphic adenoma Carcinoma in Pleomorphic Adenoma NCIT:C4397 Carcinoma ex Pleomorphic Adenoma confirmed carcinoma in pleomorphic adenoma NCIT:C4397 NCIT MONDO:0002472 carcinoma ex pleomorphic adenoma oio:hasExactSynonym carcinoma in pleomorphic adenoma carcinoma in pleomorphic adenoma Carcinoma in pleomorphic adenoma NCIT:C4397 Carcinoma ex Pleomorphic Adenoma confirmed carcinoma in pleomorphic adenoma NCIT:C4397 NCIT +MONDO:0002472 carcinoma ex pleomorphic adenoma oio:hasExactSynonym carcinoma in pleomorphic adenoma carcinoma in pleomorphic adenoma Carcinoma in Pleomorphic Adenoma NCIT:C4397 Carcinoma ex Pleomorphic Adenoma confirmed carcinoma in pleomorphic adenoma NCIT:C4397 NCIT MONDO:0002474 primary hyperoxaluria oio:hasExactSynonym primary hyperoxaluria primary hyperoxaluria Primary Hyperoxaluria NCIT:C123158 Primary Hyperoxaluria confirmed primary hyperoxaluria NCIT:C123158 NCIT MONDO:0002475 lacrimal gland adenocarcinoma oio:hasExactSynonym adenocarcinoma of lacrimal gland adenocarcinoma of lacrimal gland Adenocarcinoma of Lacrimal Gland NCIT:C4541 Lacrimal Gland Adenocarcinoma confirmed adenocarcinoma of lacrimal gland NCIT:C4541 NCIT MONDO:0002475 lacrimal gland adenocarcinoma oio:hasExactSynonym adenocarcinoma of the lacrimal gland adenocarcinoma of the lacrimal gland Adenocarcinoma of the Lacrimal Gland NCIT:C4541 Lacrimal Gland Adenocarcinoma confirmed adenocarcinoma of the lacrimal gland NCIT:C4541 NCIT @@ -84788,8 +84788,8 @@ MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym giant cell tumo MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tendon sheath giant cell neoplasm tendon sheath giant cell neoplasm Tendon Sheath Giant Cell Neoplasm NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tendon sheath giant cell neoplasm NCIT:C3402 NCIT MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tendon sheath giant cell tumor tendon sheath giant cell tumor Tendon Sheath Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tendon sheath giant cell tumor NCIT:C3402 NCIT MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell neoplasm tenosynovial giant cell neoplasm Tenosynovial Giant Cell Neoplasm NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tenosynovial giant cell neoplasm NCIT:C3402 NCIT -MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tenosynovial giant cell tumor NCIT:C3402 NCIT MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial Giant Cell Tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tenosynovial giant cell tumor NCIT:C3402 NCIT +MONDO:0002522 tenosynovial giant cell tumor oio:hasExactSynonym tenosynovial giant cell tumor tenosynovial giant cell tumor Tenosynovial giant cell tumor NCIT:C3402 Tenosynovial Giant Cell Tumor confirmed tenosynovial giant cell tumor NCIT:C3402 NCIT MONDO:0002528 synovium neoplasm oio:hasExactSynonym neoplasm of synovium neoplasm of synovium Neoplasm of Synovium NCIT:C8964 Synovial Neoplasm confirmed neoplasm of synovium NCIT:C8964 NCIT MONDO:0002528 synovium neoplasm oio:hasExactSynonym neoplasm of the synovium neoplasm of the synovium Neoplasm of the Synovium NCIT:C8964 Synovial Neoplasm confirmed neoplasm of the synovium NCIT:C8964 NCIT MONDO:0002528 synovium neoplasm oio:hasExactSynonym synovial neoplasm synovial neoplasm Synovial Neoplasm NCIT:C8964 Synovial Neoplasm confirmed synovial neoplasm NCIT:C8964 NCIT @@ -84847,8 +84847,8 @@ MONDO:0002546 schwannoma oio:hasExactSynonym benign schwannoma benign schwannom MONDO:0002546 schwannoma oio:hasExactSynonym neurilemmoma neurilemmoma Neurilemmoma NCIT:C3269 Schwannoma confirmed neurilemmoma NCIT:C3269 NCIT MONDO:0002546 schwannoma oio:hasExactSynonym neurinoma neurinoma Neurinoma NCIT:C3269 Schwannoma confirmed neurinoma NCIT:C3269 NCIT MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma schwannoma Schwannoma NCIT:C3269 Schwannoma confirmed schwannoma NCIT:C3269 NCIT -MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (Who Grade I) NCIT:C3269 Schwannoma confirmed schwannoma (WHO grade I) NCIT:C3269 NCIT MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (WHO Grade I) NCIT:C3269 Schwannoma confirmed schwannoma (WHO grade I) NCIT:C3269 NCIT +MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma (WHO grade I) schwannoma (WHO grade I) Schwannoma (Who Grade I) NCIT:C3269 Schwannoma confirmed schwannoma (WHO grade I) NCIT:C3269 NCIT MONDO:0002546 schwannoma oio:hasExactSynonym schwannoma, benign schwannoma, benign SCHWANNOMA, BENIGN NCIT:C3269 Schwannoma confirmed schwannoma, benign NCIT:C3269 NCIT MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of nerve sheath neoplasm of nerve sheath Neoplasm of Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm confirmed neoplasm of nerve sheath NCIT:C4972 NCIT MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym neoplasm of the nerve sheath neoplasm of the nerve sheath Neoplasm of the Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm confirmed neoplasm of the nerve sheath NCIT:C4972 NCIT @@ -84857,8 +84857,8 @@ MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym nerve sheath tumor nerv MONDO:0002547 nerve sheath neoplasm oio:hasExactSynonym tumor of nerve sheath tumor of nerve sheath Tumor of Nerve Sheath NCIT:C4972 Nerve Sheath Neoplasm confirmed tumor of nerve sheath NCIT:C4972 NCIT MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular neurilemmoma cellular neurilemmoma Cellular Neurilemmoma NCIT:C4724 Cellular Schwannoma confirmed cellular neurilemmoma NCIT:C4724 NCIT MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular neurinoma cellular neurinoma Cellular Neurinoma NCIT:C4724 Cellular Schwannoma confirmed cellular neurinoma NCIT:C4724 NCIT -MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular schwannoma NCIT:C4724 Cellular Schwannoma confirmed cellular schwannoma NCIT:C4724 NCIT MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular Schwannoma NCIT:C4724 Cellular Schwannoma confirmed cellular schwannoma NCIT:C4724 NCIT +MONDO:0002548 cellular schwannoma oio:hasExactSynonym cellular schwannoma cellular schwannoma Cellular schwannoma NCIT:C4724 Cellular Schwannoma confirmed cellular schwannoma NCIT:C4724 NCIT MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal nerve neurilemmoma hypoglossal nerve neurilemmoma Hypoglossal Nerve Neurilemmoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve confirmed hypoglossal nerve neurilemmoma NCIT:C5434 NCIT MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal nerve schwannoma hypoglossal nerve schwannoma Hypoglossal Nerve Schwannoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve confirmed hypoglossal nerve schwannoma NCIT:C5434 NCIT MONDO:0002549 schwannoma of twelfth cranial nerve oio:hasExactSynonym hypoglossal neurilemmoma hypoglossal neurilemmoma Hypoglossal Neurilemmoma NCIT:C5434 Schwannoma of the Twelfth Cranial Nerve confirmed hypoglossal neurilemmoma NCIT:C5434 NCIT @@ -84929,11 +84929,11 @@ MONDO:0002556 microcystic/reticular schwannoma oio:hasExactSynonym microcystic/ MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanocytic neurilemmoma melanocytic neurilemmoma Melanocytic Neurilemmoma NCIT:C6970 Melanotic Schwannoma confirmed melanocytic neurilemmoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanocytic schwannoma melanocytic schwannoma Melanocytic Schwannoma NCIT:C6970 Melanotic Schwannoma confirmed melanocytic schwannoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic neurinoma melanotic neurinoma Melanotic Neurinoma NCIT:C6970 Melanotic Schwannoma confirmed melanotic neurinoma NCIT:C6970 NCIT -MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic schwannoma NCIT:C6970 Melanotic Schwannoma confirmed melanotic schwannoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic Schwannoma NCIT:C6970 Melanotic Schwannoma confirmed melanotic schwannoma NCIT:C6970 NCIT +MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym melanotic schwannoma melanotic schwannoma Melanotic schwannoma NCIT:C6970 Melanotic Schwannoma confirmed melanotic schwannoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented neurilemmoma pigmented neurilemmoma Pigmented Neurilemmoma NCIT:C6970 Melanotic Schwannoma confirmed pigmented neurilemmoma NCIT:C6970 NCIT -MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented schwannoma pigmented schwannoma Pigmented Schwannoma NCIT:C6970 Melanotic Schwannoma confirmed pigmented schwannoma NCIT:C6970 NCIT MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented schwannoma pigmented schwannoma Pigmented schwannoma NCIT:C6970 Melanotic Schwannoma confirmed pigmented schwannoma NCIT:C6970 NCIT +MONDO:0002558 melanotic neurilemmoma oio:hasExactSynonym pigmented schwannoma pigmented schwannoma Pigmented Schwannoma NCIT:C6970 Melanotic Schwannoma confirmed pigmented schwannoma NCIT:C6970 NCIT MONDO:0002559 plexiform schwannoma oio:hasExactSynonym plexiform neurilemmoma plexiform neurilemmoma Plexiform Neurilemmoma NCIT:C6969 Plexiform Schwannoma confirmed plexiform neurilemmoma NCIT:C6969 NCIT MONDO:0002559 plexiform schwannoma oio:hasExactSynonym plexiform neurinoma plexiform neurinoma Plexiform Neurinoma NCIT:C6969 Plexiform Schwannoma confirmed plexiform neurinoma NCIT:C6969 NCIT MONDO:0002559 plexiform schwannoma oio:hasExactSynonym plexiform schwannoma plexiform schwannoma Plexiform Schwannoma NCIT:C6969 Plexiform Schwannoma confirmed plexiform schwannoma NCIT:C6969 NCIT @@ -84971,11 +84971,11 @@ MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma oio:hasExactSyno MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym extrahepatic bile duct rhabdomyosarcoma extrahepatic bile duct rhabdomyosarcoma Extrahepatic Bile Duct Rhabdomyosarcoma NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma confirmed extrahepatic bile duct rhabdomyosarcoma NCIT:C5860 NCIT MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym rhabdomyosarcoma of extrahepatic bile duct rhabdomyosarcoma of extrahepatic bile duct Rhabdomyosarcoma of Extrahepatic Bile Duct NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma confirmed rhabdomyosarcoma of extrahepatic bile duct NCIT:C5860 NCIT MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma oio:hasExactSynonym rhabdomyosarcoma of the extrahepatic bile duct rhabdomyosarcoma of the extrahepatic bile duct Rhabdomyosarcoma of the Extrahepatic Bile Duct NCIT:C5860 Extrahepatic Bile Duct Rhabdomyosarcoma confirmed rhabdomyosarcoma of the extrahepatic bile duct NCIT:C5860 NCIT -MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid Sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed botryoid sarcoma NCIT:C9150 NCIT MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed botryoid sarcoma NCIT:C9150 NCIT +MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid sarcoma botryoid sarcoma Botryoid Sarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed botryoid sarcoma NCIT:C9150 NCIT MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym botryoid-type embryonal rhabdomyosarcoma botryoid-type embryonal rhabdomyosarcoma Botryoid-Type Embryonal Rhabdomyosarcoma NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed botryoid-type embryonal rhabdomyosarcoma NCIT:C9150 NCIT -MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym sarcoma botryoides sarcoma botryoides Sarcoma Botryoides NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed sarcoma botryoides NCIT:C9150 NCIT MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym sarcoma botryoides sarcoma botryoides Sarcoma botryoides NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed sarcoma botryoides NCIT:C9150 NCIT +MONDO:0002578 botryoid rhabdomyosarcoma oio:hasExactSynonym sarcoma botryoides sarcoma botryoides Sarcoma Botryoides NCIT:C9150 Botryoid-Type Embryonal Rhabdomyosarcoma confirmed sarcoma botryoides NCIT:C9150 NCIT MONDO:0002579 orbit embryonal rhabdomyosarcoma oio:hasExactSynonym embryonal rhabdomyosarcoma of orbit embryonal rhabdomyosarcoma of orbit Embryonal Rhabdomyosarcoma of Orbit NCIT:C6246 Orbit Embryonal Rhabdomyosarcoma confirmed embryonal rhabdomyosarcoma of orbit NCIT:C6246 NCIT MONDO:0002579 orbit embryonal rhabdomyosarcoma oio:hasExactSynonym embryonal rhabdomyosarcoma of the orbit embryonal rhabdomyosarcoma of the orbit Embryonal Rhabdomyosarcoma of the Orbit NCIT:C6246 Orbit Embryonal Rhabdomyosarcoma confirmed embryonal rhabdomyosarcoma of the orbit NCIT:C6246 NCIT MONDO:0002580 orbit rhabdomyosarcoma oio:hasExactSynonym rhabdomyosarcoma of orbit rhabdomyosarcoma of orbit Rhabdomyosarcoma of Orbit NCIT:C4543 Orbit Rhabdomyosarcoma confirmed rhabdomyosarcoma of orbit NCIT:C4543 NCIT @@ -85014,8 +85014,8 @@ MONDO:0002592 invasive malignant thymoma oio:hasExactSynonym malignant thymoma, MONDO:0002592 invasive malignant thymoma oio:hasExactSynonym thymoma malignant invasive thymoma malignant invasive Thymoma Malignant Invasive NCIT:C7904 Invasive Malignant Thymoma confirmed thymoma malignant invasive NCIT:C7904 NCIT MONDO:0002597 notochordal tumor oio:hasExactSynonym notochordal neoplasm notochordal neoplasm Notochordal Neoplasm NCIT:C7063 Notochordal Tumor confirmed notochordal neoplasm NCIT:C7063 NCIT MONDO:0002597 notochordal tumor oio:hasExactSynonym notochordal tumor notochordal tumor Notochordal Tumor NCIT:C7063 Notochordal Tumor confirmed notochordal tumor NCIT:C7063 NCIT -MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed Embryonal Carcinoma and Teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma confirmed mixed embryonal carcinoma and teratoma NCIT:C3756 NCIT MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed embryonal carcinoma and teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma confirmed mixed embryonal carcinoma and teratoma NCIT:C3756 NCIT +MONDO:0002599 teratocarcinoma oio:hasExactSynonym mixed embryonal carcinoma and teratoma mixed embryonal carcinoma and teratoma Mixed Embryonal Carcinoma and Teratoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma confirmed mixed embryonal carcinoma and teratoma NCIT:C3756 NCIT MONDO:0002599 teratocarcinoma oio:hasExactSynonym teratocarcinoma teratocarcinoma Teratocarcinoma NCIT:C3756 Mixed Embryonal Carcinoma and Teratoma confirmed teratocarcinoma NCIT:C3756 NCIT MONDO:0002601 teratoma oio:hasExactSynonym teratoma teratoma Teratoma NCIT:C3403 Teratoma confirmed teratoma NCIT:C3403 NCIT MONDO:0002602 central nervous system disorder oio:hasExactSynonym central nervous system disease central nervous system disease Central Nervous System Disease NCIT:C2934 Central Nervous System Disorder confirmed central nervous system disease NCIT:C2934 NCIT @@ -85044,8 +85044,8 @@ MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone oio:hasExa MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone oio:hasExactSynonym malignant fibrous histiocytoma of the bone malignant fibrous histiocytoma of the bone Malignant Fibrous Histiocytoma of the Bone NCIT:C8563 Undifferentiated High Grade Pleomorphic Sarcoma of Bone confirmed malignant fibrous histiocytoma of the bone NCIT:C8563 NCIT MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma undifferentiated high grade pleomorphic sarcoma Undifferentiated High Grade Pleomorphic Sarcoma NCIT:C8563 Undifferentiated High Grade Pleomorphic Sarcoma of Bone confirmed undifferentiated high grade pleomorphic sarcoma NCIT:C8563 NCIT MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone oio:hasExactSynonym undifferentiated high grade pleomorphic sarcoma of bone undifferentiated high grade pleomorphic sarcoma of bone Undifferentiated High Grade Pleomorphic Sarcoma of Bone NCIT:C8563 Undifferentiated High Grade Pleomorphic Sarcoma of Bone confirmed undifferentiated high grade pleomorphic sarcoma of bone NCIT:C8563 NCIT -MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone oio:hasExactSynonym undifferentiated high-grade pleomorphic sarcoma undifferentiated high-grade pleomorphic sarcoma Undifferentiated High-Grade Pleomorphic Sarcoma NCIT:C8563 Undifferentiated High Grade Pleomorphic Sarcoma of Bone confirmed undifferentiated high-grade pleomorphic sarcoma NCIT:C8563 NCIT MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone oio:hasExactSynonym undifferentiated high-grade pleomorphic sarcoma undifferentiated high-grade pleomorphic sarcoma Undifferentiated high-grade pleomorphic sarcoma NCIT:C8563 Undifferentiated High Grade Pleomorphic Sarcoma of Bone confirmed undifferentiated high-grade pleomorphic sarcoma NCIT:C8563 NCIT +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone oio:hasExactSynonym undifferentiated high-grade pleomorphic sarcoma undifferentiated high-grade pleomorphic sarcoma Undifferentiated High-Grade Pleomorphic Sarcoma NCIT:C8563 Undifferentiated High Grade Pleomorphic Sarcoma of Bone confirmed undifferentiated high-grade pleomorphic sarcoma NCIT:C8563 NCIT MONDO:0002619 bone fibrosarcoma oio:hasExactSynonym bone fibrosarcoma bone fibrosarcoma Bone Fibrosarcoma NCIT:C6604 Bone Fibrosarcoma confirmed bone fibrosarcoma NCIT:C6604 NCIT MONDO:0002619 bone fibrosarcoma oio:hasExactSynonym fibrosarcoma of bone fibrosarcoma of bone Fibrosarcoma of Bone NCIT:C6604 Bone Fibrosarcoma confirmed fibrosarcoma of bone NCIT:C6604 NCIT MONDO:0002619 bone fibrosarcoma oio:hasExactSynonym fibrosarcoma of the bone fibrosarcoma of the bone Fibrosarcoma of the Bone NCIT:C6604 Bone Fibrosarcoma confirmed fibrosarcoma of the bone NCIT:C6604 NCIT @@ -85099,18 +85099,18 @@ MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym peripheral osteosarco MONDO:0002628 peripheral osteosarcoma oio:hasExactSynonym surface osteosarcoma surface osteosarcoma Surface Osteosarcoma NCIT:C7134 Bone Surface (Peripheral) Osteosarcoma confirmed surface osteosarcoma NCIT:C7134 NCIT MONDO:0002629 bone osteosarcoma oio:hasExactSynonym bone osteosarcoma bone osteosarcoma Bone Osteosarcoma NCIT:C53707 Bone Osteosarcoma confirmed bone osteosarcoma NCIT:C53707 NCIT MONDO:0002629 bone osteosarcoma oio:hasExactSynonym osteosarcoma of bone osteosarcoma of bone Osteosarcoma of Bone NCIT:C53707 Bone Osteosarcoma confirmed osteosarcoma of bone NCIT:C53707 NCIT -MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym small cell osteosarcoma small cell osteosarcoma Small cell osteosarcoma NCIT:C4023 Small Cell Osteosarcoma confirmed small cell osteosarcoma NCIT:C4023 NCIT MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym small cell osteosarcoma small cell osteosarcoma Small Cell Osteosarcoma NCIT:C4023 Small Cell Osteosarcoma confirmed small cell osteosarcoma NCIT:C4023 NCIT +MONDO:0002630 small cell osteogenic sarcoma oio:hasExactSynonym small cell osteosarcoma small cell osteosarcoma Small cell osteosarcoma NCIT:C4023 Small Cell Osteosarcoma confirmed small cell osteosarcoma NCIT:C4023 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed central osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym central osteosarcoma central osteosarcoma Central osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed central osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional central osteosarcoma conventional central osteosarcoma Conventional Central Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed conventional central osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional central osteosarcoma conventional central osteosarcoma Conventional central osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed conventional central osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym conventional osteosarcoma conventional osteosarcoma Conventional Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed conventional osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteogenic sarcoma intracortical osteogenic sarcoma Intracortical Osteogenic Sarcoma NCIT:C35870 Conventional Osteosarcoma confirmed intracortical osteogenic sarcoma NCIT:C35870 NCIT -MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed intracortical osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed intracortical osteosarcoma NCIT:C35870 NCIT -MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym medullary osteosarcoma medullary osteosarcoma Medullary Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed medullary osteosarcoma NCIT:C35870 NCIT +MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym intracortical osteosarcoma intracortical osteosarcoma Intracortical osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed intracortical osteosarcoma NCIT:C35870 NCIT MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym medullary osteosarcoma medullary osteosarcoma Medullary osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed medullary osteosarcoma NCIT:C35870 NCIT +MONDO:0002631 conventional osteosarcoma oio:hasExactSynonym medullary osteosarcoma medullary osteosarcoma Medullary Osteosarcoma NCIT:C35870 Conventional Osteosarcoma confirmed medullary osteosarcoma NCIT:C35870 NCIT MONDO:0002632 metachronous osteosarcoma of the bone oio:hasExactSynonym metachronous osteosarcoma metachronous osteosarcoma Metachronous Osteosarcoma NCIT:C38157 Metachronous Osteosarcoma confirmed metachronous osteosarcoma NCIT:C38157 NCIT MONDO:0002632 metachronous osteosarcoma of the bone oio:hasExactSynonym metachronous osteosarcoma of the bone metachronous osteosarcoma of the bone Metachronous Osteosarcoma of the Bone NCIT:C38157 Metachronous Osteosarcoma confirmed metachronous osteosarcoma of the bone NCIT:C38157 NCIT MONDO:0002633 cranial nerve neoplasm oio:hasExactSynonym cranial nerve neoplasm cranial nerve neoplasm Cranial Nerve Neoplasm NCIT:C2963 Cranial Nerve Neoplasm confirmed cranial nerve neoplasm NCIT:C2963 NCIT @@ -85217,8 +85217,8 @@ MONDO:0002656 skin carcinoma oio:hasExactSynonym carcinoma of skin carcinoma of MONDO:0002656 skin carcinoma oio:hasExactSynonym carcinoma of the skin carcinoma of the skin Carcinoma of the Skin NCIT:C4914 Skin Carcinoma confirmed carcinoma of the skin NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma cancer of skin non-melanoma cancer of skin Non-Melanoma Cancer of Skin NCIT:C4914 Skin Carcinoma confirmed non-melanoma cancer of skin NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma cancer of the skin non-melanoma cancer of the skin Non-Melanoma Cancer of the Skin NCIT:C4914 Skin Carcinoma confirmed non-melanoma cancer of the skin NCIT:C4914 NCIT -MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-melanoma Skin Cancer NCIT:C4914 Skin Carcinoma confirmed non-melanoma skin cancer NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-Melanoma Skin Cancer NCIT:C4914 Skin Carcinoma confirmed non-melanoma skin cancer NCIT:C4914 NCIT +MONDO:0002656 skin carcinoma oio:hasExactSynonym non-melanoma skin cancer non-melanoma skin cancer Non-melanoma Skin Cancer NCIT:C4914 Skin Carcinoma confirmed non-melanoma skin cancer NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym skin cancer, non-melanoma skin cancer, non-melanoma Skin Cancer, Non-Melanoma NCIT:C4914 Skin Carcinoma confirmed skin cancer, non-melanoma NCIT:C4914 NCIT MONDO:0002656 skin carcinoma oio:hasExactSynonym skin carcinoma skin carcinoma Skin Carcinoma NCIT:C4914 Skin Carcinoma confirmed skin carcinoma NCIT:C4914 NCIT MONDO:0002657 breast disorder oio:hasExactSynonym breast disease breast disease Breast Disease NCIT:C26709 Breast Disorder confirmed breast disease NCIT:C26709 NCIT @@ -85585,8 +85585,8 @@ MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym adenocarcinoma of ovar MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym adenocarcinoma of the ovary adenocarcinoma of the ovary Adenocarcinoma of the Ovary NCIT:C7700 Ovarian Adenocarcinoma confirmed adenocarcinoma of the ovary NCIT:C7700 NCIT MONDO:0002752 ovarian adenocarcinoma oio:hasExactSynonym ovarian adenocarcinoma ovarian adenocarcinoma Ovarian Adenocarcinoma NCIT:C7700 Ovarian Adenocarcinoma confirmed ovarian adenocarcinoma NCIT:C7700 NCIT MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extramedullary plasmacytoma extramedullary plasmacytoma Extramedullary Plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma confirmed extramedullary plasmacytoma NCIT:C4002 NCIT -MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma confirmed extraosseous plasmacytoma NCIT:C4002 NCIT MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous Plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma confirmed extraosseous plasmacytoma NCIT:C4002 NCIT +MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym extraosseous plasmacytoma extraosseous plasmacytoma Extraosseous plasmacytoma NCIT:C4002 Extraosseous Plasmacytoma confirmed extraosseous plasmacytoma NCIT:C4002 NCIT MONDO:0002754 extramedullary plasmacytoma oio:hasExactSynonym plasmacytoma, extramedullary plasmacytoma, extramedullary Plasmacytoma, extramedullary NCIT:C4002 Extraosseous Plasmacytoma confirmed plasmacytoma, extramedullary NCIT:C4002 NCIT MONDO:0002755 solitary osseous plasmacytoma oio:hasExactSynonym solitary plasmacytoma of bone solitary plasmacytoma of bone Solitary Plasmacytoma of Bone NCIT:C7812 Solitary Plasmacytoma of Bone confirmed solitary plasmacytoma of bone NCIT:C7812 NCIT MONDO:0002756 solitary plasmacytoma of chest wall oio:hasExactSynonym chest wall solitary plasmacytoma chest wall solitary plasmacytoma Chest Wall Solitary Plasmacytoma NCIT:C6711 Chest Wall Solitary Plasmacytoma confirmed chest wall solitary plasmacytoma NCIT:C6711 NCIT @@ -85737,10 +85737,10 @@ MONDO:0002817 adrenal gland cancer oio:hasExactSynonym malignant neoplasm of ad MONDO:0002817 adrenal gland cancer oio:hasExactSynonym malignant neoplasm of the adrenal gland malignant neoplasm of the adrenal gland Malignant Neoplasm of the Adrenal Gland NCIT:C9338 Malignant Adrenal Gland Neoplasm confirmed malignant neoplasm of the adrenal gland NCIT:C9338 NCIT MONDO:0002817 adrenal gland cancer oio:hasExactSynonym malignant tumor of adrenal gland malignant tumor of adrenal gland Malignant Tumor of Adrenal Gland NCIT:C9338 Malignant Adrenal Gland Neoplasm confirmed malignant tumor of adrenal gland NCIT:C9338 NCIT MONDO:0002817 adrenal gland cancer oio:hasExactSynonym malignant tumor of the adrenal gland malignant tumor of the adrenal gland Malignant Tumor of the Adrenal Gland NCIT:C9338 Malignant Adrenal Gland Neoplasm confirmed malignant tumor of the adrenal gland NCIT:C9338 NCIT -MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym trabecular adenocarcinoma trabecular adenocarcinoma Trabecular Adenocarcinoma NCIT:C4068 Trabecular Adenocarcinoma confirmed trabecular adenocarcinoma NCIT:C4068 NCIT MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym trabecular adenocarcinoma trabecular adenocarcinoma Trabecular adenocarcinoma NCIT:C4068 Trabecular Adenocarcinoma confirmed trabecular adenocarcinoma NCIT:C4068 NCIT -MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym trabecular carcinoma trabecular carcinoma Trabecular Carcinoma NCIT:C4068 Trabecular Adenocarcinoma confirmed trabecular carcinoma NCIT:C4068 NCIT +MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym trabecular adenocarcinoma trabecular adenocarcinoma Trabecular Adenocarcinoma NCIT:C4068 Trabecular Adenocarcinoma confirmed trabecular adenocarcinoma NCIT:C4068 NCIT MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym trabecular carcinoma trabecular carcinoma Trabecular carcinoma NCIT:C4068 Trabecular Adenocarcinoma confirmed trabecular carcinoma NCIT:C4068 NCIT +MONDO:0002822 trabecular adenocarcinoma oio:hasExactSynonym trabecular carcinoma trabecular carcinoma Trabecular Carcinoma NCIT:C4068 Trabecular Adenocarcinoma confirmed trabecular carcinoma NCIT:C4068 NCIT MONDO:0002828 Bartholin gland transitional cell carcinoma oio:hasExactSynonym Bartholin gland transitional cell carcinoma Bartholin gland transitional cell carcinoma Bartholin Gland Transitional Cell Carcinoma NCIT:C40297 Bartholin Gland Transitional Cell Carcinoma confirmed Bartholin gland transitional cell carcinoma NCIT:C40297 NCIT MONDO:0002828 Bartholin gland transitional cell carcinoma oio:hasExactSynonym Bartholin's gland transitional cell carcinoma Bartholin's gland transitional cell carcinoma Bartholin's Gland Transitional Cell Carcinoma NCIT:C40297 Bartholin Gland Transitional Cell Carcinoma confirmed Bartholin's gland transitional cell carcinoma NCIT:C40297 NCIT MONDO:0002829 bartholin gland carcinoma oio:hasExactSynonym Bartholin gland cancer Bartholin gland cancer Bartholin Gland Cancer NCIT:C9055 Bartholin Gland Carcinoma confirmed Bartholin gland cancer NCIT:C9055 NCIT @@ -86015,8 +86015,8 @@ MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynon MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynonym intraparenchymal clear cell meningioma of brainstem intraparenchymal clear cell meningioma of brainstem Intraparenchymal Clear Cell Meningioma of Brainstem NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma confirmed intraparenchymal clear cell meningioma of brainstem NCIT:C5295 NCIT MONDO:0002916 brainstem intraparenchymal clear cell meningioma oio:hasExactSynonym intraparenchymal clear cell meningioma of the brainstem intraparenchymal clear cell meningioma of the brainstem Intraparenchymal Clear Cell Meningioma of the Brainstem NCIT:C5295 Brain Stem Intraparenchymal Clear Cell Meningioma confirmed intraparenchymal clear cell meningioma of the brainstem NCIT:C5295 NCIT MONDO:0002917 disorder of pilosebaceous unit oio:hasExactSynonym hair disorder hair disorder Hair Disorder NCIT:C34656 Hair Disorder confirmed hair disorder NCIT:C34656 NCIT -MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear cell meningioma NCIT:C4722 Clear Cell Meningioma confirmed clear cell meningioma NCIT:C4722 NCIT MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear Cell Meningioma NCIT:C4722 Clear Cell Meningioma confirmed clear cell meningioma NCIT:C4722 NCIT +MONDO:0002918 clear cell meningioma oio:hasExactSynonym clear cell meningioma clear cell meningioma Clear cell meningioma NCIT:C4722 Clear Cell Meningioma confirmed clear cell meningioma NCIT:C4722 NCIT MONDO:0002919 posterior cranial fossa meningioma oio:hasExactSynonym meningioma of posterior cranial fossa meningioma of posterior cranial fossa Meningioma of Posterior Cranial Fossa NCIT:C6775 Posterior Fossa Meningioma confirmed meningioma of posterior cranial fossa NCIT:C6775 NCIT MONDO:0002919 posterior cranial fossa meningioma oio:hasExactSynonym meningioma of the posterior cranial fossa meningioma of the posterior cranial fossa Meningioma of the Posterior Cranial Fossa NCIT:C6775 Posterior Fossa Meningioma confirmed meningioma of the posterior cranial fossa NCIT:C6775 NCIT MONDO:0002920 malignant ovarian Brenner tumor oio:hasExactSynonym malignant Brenner tumor of ovary malignant Brenner tumor of ovary Malignant Brenner Tumor of Ovary NCIT:C4270 Malignant Ovarian Brenner Tumor confirmed malignant Brenner tumor of ovary NCIT:C4270 NCIT @@ -86034,8 +86034,8 @@ MONDO:0002924 smooth muscle cancer oio:hasExactSynonym malignant tumor of smoot MONDO:0002924 smooth muscle cancer oio:hasExactSynonym malignant tumor of the smooth muscle malignant tumor of the smooth muscle Malignant Tumor of the Smooth Muscle NCIT:C6511 Malignant Smooth Muscle Neoplasm confirmed malignant tumor of the smooth muscle NCIT:C6511 NCIT MONDO:0002924 smooth muscle cancer oio:hasExactSynonym smooth muscle cancer smooth muscle cancer Smooth Muscle Cancer NCIT:C6511 Malignant Smooth Muscle Neoplasm confirmed smooth muscle cancer NCIT:C6511 NCIT MONDO:0002926 clear cell sarcoma oio:hasExactSynonym clear cell sarcoma of soft parts clear cell sarcoma of soft parts Clear Cell Sarcoma of Soft Parts NCIT:C3745 Clear Cell Sarcoma of Soft Tissue confirmed clear cell sarcoma of soft parts NCIT:C3745 NCIT -MONDO:0002926 clear cell sarcoma oio:hasExactSynonym clear cell sarcoma of soft tissue clear cell sarcoma of soft tissue Clear cell sarcoma of soft tissue NCIT:C3745 Clear Cell Sarcoma of Soft Tissue confirmed clear cell sarcoma of soft tissue NCIT:C3745 NCIT MONDO:0002926 clear cell sarcoma oio:hasExactSynonym clear cell sarcoma of soft tissue clear cell sarcoma of soft tissue Clear Cell Sarcoma of Soft Tissue NCIT:C3745 Clear Cell Sarcoma of Soft Tissue confirmed clear cell sarcoma of soft tissue NCIT:C3745 NCIT +MONDO:0002926 clear cell sarcoma oio:hasExactSynonym clear cell sarcoma of soft tissue clear cell sarcoma of soft tissue Clear cell sarcoma of soft tissue NCIT:C3745 Clear Cell Sarcoma of Soft Tissue confirmed clear cell sarcoma of soft tissue NCIT:C3745 NCIT MONDO:0002926 clear cell sarcoma oio:hasExactSynonym melanoma, malignant, of soft parts melanoma, malignant, of soft parts Melanoma, malignant, of soft parts NCIT:C3745 Clear Cell Sarcoma of Soft Tissue confirmed melanoma, malignant, of soft parts NCIT:C3745 NCIT MONDO:0002927 spindle cell sarcoma oio:hasExactSynonym spindle cell sarcoma spindle cell sarcoma Spindle Cell Sarcoma NCIT:C27005 Spindle Cell Sarcoma confirmed spindle cell sarcoma NCIT:C27005 NCIT MONDO:0002927 spindle cell sarcoma oio:hasExactSynonym spindle cell sarcoma spindle cell sarcoma Spindle cell sarcoma NCIT:C27005 Spindle Cell Sarcoma confirmed spindle cell sarcoma NCIT:C27005 NCIT @@ -86082,8 +86082,8 @@ MONDO:0002944 external ear carcinoma oio:hasExactSynonym external Ear carcinoma MONDO:0002944 external ear carcinoma oio:hasExactSynonym external ear carcinoma external ear carcinoma External Ear Carcinoma NCIT:C6081 External Ear Carcinoma confirmed external ear carcinoma NCIT:C6081 NCIT MONDO:0002945 micronodular basal cell carcinoma oio:hasExactSynonym skin micronodular basal cell carcinoma skin micronodular basal cell carcinoma Skin Micronodular Basal Cell Carcinoma NCIT:C27541 Skin Micronodular Basal Cell Carcinoma confirmed skin micronodular basal cell carcinoma NCIT:C27541 NCIT MONDO:0002947 adamantinoid basal cell epithelioma oio:hasExactSynonym skin adamantinoid basal cell carcinoma skin adamantinoid basal cell carcinoma Skin Adamantinoid Basal Cell Carcinoma NCIT:C7585 Skin Adamantinoid Basal Cell Carcinoma confirmed skin adamantinoid basal cell carcinoma NCIT:C7585 NCIT -MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed Pinkus tumor NCIT:C4109 NCIT MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor Pinkus tumor Pinkus Tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed Pinkus tumor NCIT:C4109 NCIT +MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym Pinkus tumor NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed Pinkus tumor NCIT:C4109 NCIT MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym fibroepithelioma of Pinkus fibroepithelioma of Pinkus Fibroepithelioma of Pinkus NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed fibroepithelioma of Pinkus NCIT:C4109 NCIT MONDO:0002948 skin fibroepithelial basal cell carcinoma oio:hasExactSynonym fibroepithelioma of Pinkus type fibroepithelioma of Pinkus type Fibroepithelioma of Pinkus type NCIT:C4109 Skin Fibroepithelial Basal Cell Carcinoma confirmed fibroepithelioma of Pinkus type NCIT:C4109 NCIT MONDO:0002949 morpheaform basal cell carcinoma oio:hasExactSynonym basal cell carcinoma sclerosing type basal cell carcinoma sclerosing type Basal Cell Carcinoma Sclerosing Type NCIT:C27182 Skin Sclerosing/Morphoeic Basal Cell Carcinoma confirmed basal cell carcinoma sclerosing type NCIT:C27182 NCIT @@ -86099,8 +86099,8 @@ MONDO:0002951 skin adenoid basal cell carcinoma oio:hasExactSynonym skin adenoi MONDO:0002952 follicular basal cell carcinoma oio:hasExactSynonym skin follicular basal cell carcinoma skin follicular basal cell carcinoma Skin Follicular Basal Cell Carcinoma NCIT:C27538 Skin Follicular Basal Cell Carcinoma confirmed skin follicular basal cell carcinoma NCIT:C27538 NCIT MONDO:0002953 skin infiltrative basal cell carcinoma oio:hasExactSynonym infiltrating basal cell carcinoma infiltrating basal cell carcinoma Infiltrating Basal Cell Carcinoma NCIT:C27539 Skin Infiltrating Basal Cell Carcinoma confirmed infiltrating basal cell carcinoma NCIT:C27539 NCIT MONDO:0002953 skin infiltrative basal cell carcinoma oio:hasExactSynonym skin infiltrating basal cell carcinoma skin infiltrating basal cell carcinoma Skin Infiltrating Basal Cell Carcinoma NCIT:C27539 Skin Infiltrating Basal Cell Carcinoma confirmed skin infiltrating basal cell carcinoma NCIT:C27539 NCIT -MONDO:0002954 superficial multifocal basal cell carcinoma oio:hasExactSynonym multicentric basal cell carcinoma multicentric basal cell carcinoma Multicentric basal cell carcinoma NCIT:C4108 Superficial Multifocal Basal Cell Carcinoma confirmed multicentric basal cell carcinoma NCIT:C4108 NCIT MONDO:0002954 superficial multifocal basal cell carcinoma oio:hasExactSynonym multicentric basal cell carcinoma multicentric basal cell carcinoma Multicentric Basal Cell Carcinoma NCIT:C4108 Superficial Multifocal Basal Cell Carcinoma confirmed multicentric basal cell carcinoma NCIT:C4108 NCIT +MONDO:0002954 superficial multifocal basal cell carcinoma oio:hasExactSynonym multicentric basal cell carcinoma multicentric basal cell carcinoma Multicentric basal cell carcinoma NCIT:C4108 Superficial Multifocal Basal Cell Carcinoma confirmed multicentric basal cell carcinoma NCIT:C4108 NCIT MONDO:0002954 superficial multifocal basal cell carcinoma oio:hasExactSynonym multifocal superficial basal cell carcinoma multifocal superficial basal cell carcinoma Multifocal superficial basal cell carcinoma NCIT:C4108 Superficial Multifocal Basal Cell Carcinoma confirmed multifocal superficial basal cell carcinoma NCIT:C4108 NCIT MONDO:0002954 superficial multifocal basal cell carcinoma oio:hasExactSynonym superficial multifocal basal cell carcinoma superficial multifocal basal cell carcinoma Superficial Multifocal Basal Cell Carcinoma NCIT:C4108 Superficial Multifocal Basal Cell Carcinoma confirmed superficial multifocal basal cell carcinoma NCIT:C4108 NCIT MONDO:0002955 vulva basal cell carcinoma oio:hasExactSynonym basal cell carcinoma of the vulva basal cell carcinoma of the vulva Basal Cell Carcinoma of the Vulva NCIT:C6381 Vulvar Basal Cell Carcinoma confirmed basal cell carcinoma of the vulva NCIT:C6381 NCIT @@ -86128,8 +86128,8 @@ MONDO:0002971 amelanotic melanoma oio:hasExactSynonym amelanotic melanoma amela MONDO:0002971 amelanotic melanoma oio:hasExactSynonym amelanotic melanoma amelanotic melanoma Amelanotic Melanoma NCIT:C3802 Amelanotic Melanoma confirmed amelanotic melanoma NCIT:C3802 NCIT MONDO:0002971 amelanotic melanoma oio:hasExactSynonym melanoma, amelanotic, malignant melanoma, amelanotic, malignant MELANOMA, AMELANOTIC, MALIGNANT NCIT:C3802 Amelanotic Melanoma confirmed melanoma, amelanotic, malignant NCIT:C3802 NCIT MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell malignant melanoma epithelioid cell malignant melanoma Epithelioid Cell Malignant Melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid cell malignant melanoma NCIT:C4236 NCIT -MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid cell melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid cell melanoma NCIT:C4236 NCIT MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid Cell Melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid cell melanoma NCIT:C4236 NCIT +MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma epithelioid cell melanoma Epithelioid cell melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid cell melanoma NCIT:C4236 NCIT MONDO:0002973 epithelioid cell melanoma oio:hasExactSynonym epithelioid melanoma epithelioid melanoma Epithelioid Melanoma NCIT:C4236 Epithelioid Cell Melanoma confirmed epithelioid melanoma NCIT:C4236 NCIT MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervical neoplasm malignant cervical neoplasm Malignant Cervical Neoplasm NCIT:C9311 Malignant Cervical Neoplasm confirmed malignant cervical neoplasm NCIT:C9311 NCIT MONDO:0002974 cervical cancer oio:hasExactSynonym malignant cervical tumor malignant cervical tumor Malignant Cervical Tumor NCIT:C9311 Malignant Cervical Neoplasm confirmed malignant cervical tumor NCIT:C9311 NCIT @@ -86366,12 +86366,12 @@ MONDO:0003054 benign meningioma oio:hasExactSynonym meningioma, benign meningio MONDO:0003054 benign meningioma oio:hasExactSynonym meningioma, benign meningioma, benign MENINGIOMA, BENIGN NCIT:C4055 Benign Meningioma confirmed meningioma, benign NCIT:C4055 NCIT MONDO:0003055 secretory meningioma oio:hasExactSynonym secretory meningioma secretory meningioma Secretory meningioma NCIT:C4718 Secretory Meningioma confirmed secretory meningioma NCIT:C4718 NCIT MONDO:0003055 secretory meningioma oio:hasExactSynonym secretory meningioma secretory meningioma Secretory Meningioma NCIT:C4718 Secretory Meningioma confirmed secretory meningioma NCIT:C4718 NCIT -MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-Rich Meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma confirmed lymphoplasmacyte-rich meningioma NCIT:C4720 NCIT MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-rich meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma confirmed lymphoplasmacyte-rich meningioma NCIT:C4720 NCIT +MONDO:0003056 lymphoplasmacyte-rich meningioma oio:hasExactSynonym lymphoplasmacyte-rich meningioma lymphoplasmacyte-rich meningioma Lymphoplasmacyte-Rich Meningioma NCIT:C4720 Lymphoplasmacyte-Rich Meningioma confirmed lymphoplasmacyte-rich meningioma NCIT:C4720 NCIT MONDO:0003057 pediatric meningioma oio:hasExactSynonym childhood meningioma childhood meningioma Childhood Meningioma NCIT:C8264 Childhood Meningioma confirmed childhood meningioma NCIT:C8264 NCIT MONDO:0003057 pediatric meningioma oio:hasExactSynonym pediatric meningioma pediatric meningioma Pediatric Meningioma NCIT:C8264 Childhood Meningioma confirmed pediatric meningioma NCIT:C8264 NCIT -MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic Meningioma NCIT:C4721 Microcystic Meningioma confirmed microcystic meningioma NCIT:C4721 NCIT MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic meningioma NCIT:C4721 Microcystic Meningioma confirmed microcystic meningioma NCIT:C4721 NCIT +MONDO:0003058 microcystic meningioma oio:hasExactSynonym microcystic meningioma microcystic meningioma Microcystic Meningioma NCIT:C4721 Microcystic Meningioma confirmed microcystic meningioma NCIT:C4721 NCIT MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign muscle neoplasm benign muscle neoplasm Benign Muscle Neoplasm NCIT:C4882 Benign Muscle Neoplasm confirmed benign muscle neoplasm NCIT:C4882 NCIT MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign muscle tumor benign muscle tumor Benign Muscle Tumor NCIT:C4882 Benign Muscle Neoplasm confirmed benign muscle tumor NCIT:C4882 NCIT MONDO:0003061 benign muscle neoplasm oio:hasExactSynonym benign neoplasm of muscle benign neoplasm of muscle Benign Neoplasm of Muscle NCIT:C4882 Benign Muscle Neoplasm confirmed benign neoplasm of muscle NCIT:C4882 NCIT @@ -86606,8 +86606,8 @@ MONDO:0003155 cavernous hemangioma oio:hasExactSynonym cavernoma cavernoma Cave MONDO:0003155 cavernous hemangioma oio:hasExactSynonym cavernous angioma cavernous angioma Cavernous Angioma NCIT:C3086 Cavernous Hemangioma confirmed cavernous angioma NCIT:C3086 NCIT MONDO:0003155 cavernous hemangioma oio:hasExactSynonym cavernous hemangioma cavernous hemangioma Cavernous Hemangioma NCIT:C3086 Cavernous Hemangioma confirmed cavernous hemangioma NCIT:C3086 NCIT MONDO:0003155 cavernous hemangioma oio:hasExactSynonym cavernous hemangioma cavernous hemangioma Cavernous hemangioma NCIT:C3086 Cavernous Hemangioma confirmed cavernous hemangioma NCIT:C3086 NCIT -MONDO:0003158 malignant myoepithelioma oio:hasExactSynonym malignant myoepithelioma malignant myoepithelioma Malignant myoepithelioma NCIT:C7596 Malignant Myoepithelioma confirmed malignant myoepithelioma NCIT:C7596 NCIT MONDO:0003158 malignant myoepithelioma oio:hasExactSynonym malignant myoepithelioma malignant myoepithelioma Malignant Myoepithelioma NCIT:C7596 Malignant Myoepithelioma confirmed malignant myoepithelioma NCIT:C7596 NCIT +MONDO:0003158 malignant myoepithelioma oio:hasExactSynonym malignant myoepithelioma malignant myoepithelioma Malignant myoepithelioma NCIT:C7596 Malignant Myoepithelioma confirmed malignant myoepithelioma NCIT:C7596 NCIT MONDO:0003158 malignant myoepithelioma oio:hasExactSynonym myoepithelial carcinoma myoepithelial carcinoma Myoepithelial carcinoma NCIT:C7596 Malignant Myoepithelioma confirmed myoepithelial carcinoma NCIT:C7596 NCIT MONDO:0003158 malignant myoepithelioma oio:hasExactSynonym myoepithelial carcinoma myoepithelial carcinoma Myoepithelial Carcinoma NCIT:C7596 Malignant Myoepithelioma confirmed myoepithelial carcinoma NCIT:C7596 NCIT MONDO:0003158 malignant myoepithelioma oio:hasExactSynonym myoepithelioma, malignant myoepithelioma, malignant MYOEPITHELIOMA, MALIGNANT NCIT:C7596 Malignant Myoepithelioma confirmed myoepithelioma, malignant NCIT:C7596 NCIT @@ -86695,15 +86695,15 @@ MONDO:0003190 middle ear carcinoma oio:hasExactSynonym carcinoma of the middle MONDO:0003190 middle ear carcinoma oio:hasExactSynonym middle Ear carcinoma middle Ear carcinoma Middle Ear Carcinoma NCIT:C6089 Middle Ear Carcinoma confirmed middle Ear carcinoma NCIT:C6089 NCIT MONDO:0003190 middle ear carcinoma oio:hasExactSynonym middle ear carcinoma middle ear carcinoma Middle Ear Carcinoma NCIT:C6089 Middle Ear Carcinoma confirmed middle ear carcinoma NCIT:C6089 NCIT MONDO:0003191 rete ovarii adenocarcinoma oio:hasExactSynonym rete ovarii adenocarcinoma rete ovarii adenocarcinoma Rete Ovarii Adenocarcinoma NCIT:C40017 Rete Ovarii Adenocarcinoma confirmed rete ovarii adenocarcinoma NCIT:C40017 NCIT -MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile Duct Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma confirmed bile duct adenocarcinoma NCIT:C27813 NCIT MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile duct adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma confirmed bile duct adenocarcinoma NCIT:C27813 NCIT +MONDO:0003193 bile duct adenocarcinoma oio:hasExactSynonym bile duct adenocarcinoma bile duct adenocarcinoma Bile Duct Adenocarcinoma NCIT:C27813 Bile Duct Adenocarcinoma confirmed bile duct adenocarcinoma NCIT:C27813 NCIT MONDO:0003196 appendix carcinoma oio:hasExactSynonym appendix carcinoma appendix carcinoma Appendix Carcinoma NCIT:C9330 Appendix Carcinoma confirmed appendix carcinoma NCIT:C9330 NCIT MONDO:0003196 appendix carcinoma oio:hasExactSynonym carcinoma of appendix carcinoma of appendix Carcinoma of Appendix NCIT:C9330 Appendix Carcinoma confirmed carcinoma of appendix NCIT:C9330 NCIT MONDO:0003196 appendix carcinoma oio:hasExactSynonym carcinoma of the appendix carcinoma of the appendix Carcinoma of the Appendix NCIT:C9330 Appendix Carcinoma confirmed carcinoma of the appendix NCIT:C9330 NCIT -MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular cell adenocarcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell adenocarcinoma NCIT:C3681 NCIT MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular Cell Adenocarcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell adenocarcinoma NCIT:C3681 NCIT -MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular cell carcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell carcinoma NCIT:C3681 NCIT +MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell adenocarcinoma granular cell adenocarcinoma Granular cell adenocarcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell adenocarcinoma NCIT:C3681 NCIT MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular Cell Carcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell carcinoma NCIT:C3681 NCIT +MONDO:0003197 granular cell carcinoma oio:hasExactSynonym granular cell carcinoma granular cell carcinoma Granular cell carcinoma NCIT:C3681 Granular Cell Carcinoma confirmed granular cell carcinoma NCIT:C3681 NCIT MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of small bowel adenocarcinoma of small bowel Adenocarcinoma of Small Bowel NCIT:C7888 Small Intestinal Adenocarcinoma confirmed adenocarcinoma of small bowel NCIT:C7888 NCIT MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of small intestine adenocarcinoma of small intestine Adenocarcinoma of Small Intestine NCIT:C7888 Small Intestinal Adenocarcinoma confirmed adenocarcinoma of small intestine NCIT:C7888 NCIT MONDO:0003198 small intestine adenocarcinoma oio:hasExactSynonym adenocarcinoma of the small bowel adenocarcinoma of the small bowel Adenocarcinoma of the Small Bowel NCIT:C7888 Small Intestinal Adenocarcinoma confirmed adenocarcinoma of the small bowel NCIT:C7888 NCIT @@ -86781,8 +86781,8 @@ MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym adenocarcinoma of the u MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym adenocarcinoma of ureter adenocarcinoma of ureter Adenocarcinoma of Ureter NCIT:C6155 Ureter Adenocarcinoma confirmed adenocarcinoma of ureter NCIT:C6155 NCIT MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym ureter adenocarcinoma ureter adenocarcinoma Ureter Adenocarcinoma NCIT:C6155 Ureter Adenocarcinoma confirmed ureter adenocarcinoma NCIT:C6155 NCIT MONDO:0003216 ureter adenocarcinoma oio:hasExactSynonym ureteral adenocarcinoma ureteral adenocarcinoma Ureteral Adenocarcinoma NCIT:C6155 Ureter Adenocarcinoma confirmed ureteral adenocarcinoma NCIT:C6155 NCIT -MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma in situ NCIT:C4123 Adenocarcinoma In Situ confirmed adenocarcinoma in situ NCIT:C4123 NCIT MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma In Situ NCIT:C4123 Adenocarcinoma In Situ confirmed adenocarcinoma in situ NCIT:C4123 NCIT +MONDO:0003218 adenocarcinoma in situ oio:hasExactSynonym adenocarcinoma in situ adenocarcinoma in situ Adenocarcinoma in situ NCIT:C4123 Adenocarcinoma In Situ confirmed adenocarcinoma in situ NCIT:C4123 NCIT MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of cardioesophageal junction adenocarcinoma of cardioesophageal junction Adenocarcinoma of Cardioesophageal Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma confirmed adenocarcinoma of cardioesophageal junction NCIT:C9296 NCIT MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of gastroesophageal junction adenocarcinoma of gastroesophageal junction Adenocarcinoma of Gastroesophageal Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma confirmed adenocarcinoma of gastroesophageal junction NCIT:C9296 NCIT MONDO:0003219 gastroesophageal junction adenocarcinoma oio:hasExactSynonym adenocarcinoma of the EG junction adenocarcinoma of the EG junction Adenocarcinoma of the EG Junction NCIT:C9296 Gastroesophageal Junction Adenocarcinoma confirmed adenocarcinoma of the EG junction NCIT:C9296 NCIT @@ -86903,8 +86903,8 @@ MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell neoplasm of the esophagus granular cell neoplasm of the esophagus Granular Cell Neoplasm of the Esophagus NCIT:C5700 Esophageal Granular Cell Tumor confirmed granular cell neoplasm of the esophagus NCIT:C5700 NCIT MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell tumor of esophagus granular cell tumor of esophagus Granular Cell Tumor of Esophagus NCIT:C5700 Esophageal Granular Cell Tumor confirmed granular cell tumor of esophagus NCIT:C5700 NCIT MONDO:0003251 esophageal granular cell tumor oio:hasExactSynonym granular cell tumor of the esophagus granular cell tumor of the esophagus Granular Cell Tumor of the Esophagus NCIT:C5700 Esophageal Granular Cell Tumor confirmed granular cell tumor of the esophagus NCIT:C5700 NCIT -MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant GRANULAR CELL TUMOR, MALIGNANT NCIT:C4336 Malignant Granular Cell Tumor confirmed granular cell tumor, malignant NCIT:C4336 NCIT MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant Granular cell tumor, malignant NCIT:C4336 Malignant Granular Cell Tumor confirmed granular cell tumor, malignant NCIT:C4336 NCIT +MONDO:0003252 granular cell cancer oio:hasExactSynonym granular cell tumor, malignant granular cell tumor, malignant GRANULAR CELL TUMOR, MALIGNANT NCIT:C4336 Malignant Granular Cell Tumor confirmed granular cell tumor, malignant NCIT:C4336 NCIT MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell myoblastoma malignant granular cell myoblastoma Malignant Granular Cell Myoblastoma NCIT:C4336 Malignant Granular Cell Tumor confirmed malignant granular cell myoblastoma NCIT:C4336 NCIT MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell neoplasm malignant granular cell neoplasm Malignant Granular Cell Neoplasm NCIT:C4336 Malignant Granular Cell Tumor confirmed malignant granular cell neoplasm NCIT:C4336 NCIT MONDO:0003252 granular cell cancer oio:hasExactSynonym malignant granular cell tumor malignant granular cell tumor Malignant Granular Cell Tumor NCIT:C4336 Malignant Granular Cell Tumor confirmed malignant granular cell tumor NCIT:C4336 NCIT @@ -86967,8 +86967,8 @@ MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric neopl MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric neoplasm of the cerebellum pediatric neoplasm of the cerebellum Pediatric Neoplasm of the Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm confirmed pediatric neoplasm of the cerebellum NCIT:C5970 NCIT MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric tumor of cerebellum pediatric tumor of cerebellum Pediatric Tumor of Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm confirmed pediatric tumor of cerebellum NCIT:C5970 NCIT MONDO:0003263 childhood cerebellar neoplasm oio:hasExactSynonym pediatric tumor of the cerebellum pediatric tumor of the cerebellum Pediatric Tumor of the Cerebellum NCIT:C5970 Childhood Cerebellar Neoplasm confirmed pediatric tumor of the cerebellum NCIT:C5970 NCIT -MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous carcinoma NCIT:C2922 NCIT MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous carcinoma NCIT:C2922 NCIT +MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous carcinoma basosquamous carcinoma Basosquamous carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous carcinoma NCIT:C2922 NCIT MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous cell carcinoma basosquamous cell carcinoma Basosquamous Cell Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous cell carcinoma NCIT:C2922 NCIT MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym basosquamous tumor, malignant basosquamous tumor, malignant BASOSQUAMOUS TUMOR, MALIGNANT NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed basosquamous tumor, malignant NCIT:C2922 NCIT MONDO:0003264 basosquamous carcinoma oio:hasExactSynonym skin basosquamous cell carcinoma skin basosquamous cell carcinoma Skin Basosquamous Cell Carcinoma NCIT:C2922 Skin Basosquamous Cell Carcinoma confirmed skin basosquamous cell carcinoma NCIT:C2922 NCIT @@ -86980,8 +86980,8 @@ MONDO:0003268 mixed glioma oio:hasExactSynonym glioma, mixed glioma, mixed Glio MONDO:0003268 mixed glioma oio:hasExactSynonym glioma, mixed, malignant glioma, mixed, malignant GLIOMA, MIXED, MALIGNANT NCIT:C3903 Mixed Glioma confirmed glioma, mixed, malignant NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glial neoplasm mixed glial neoplasm Mixed Glial Neoplasm NCIT:C3903 Mixed Glioma confirmed mixed glial neoplasm NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glial tumor mixed glial tumor Mixed Glial Tumor NCIT:C3903 Mixed Glioma confirmed mixed glial tumor NCIT:C3903 NCIT -MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed glioma NCIT:C3903 Mixed Glioma confirmed mixed glioma NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed Glioma NCIT:C3903 Mixed Glioma confirmed mixed glioma NCIT:C3903 NCIT +MONDO:0003268 mixed glioma oio:hasExactSynonym mixed glioma mixed glioma Mixed glioma NCIT:C3903 Mixed Glioma confirmed mixed glioma NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed neuroglial neoplasm mixed neuroglial neoplasm Mixed Neuroglial Neoplasm NCIT:C3903 Mixed Glioma confirmed mixed neuroglial neoplasm NCIT:C3903 NCIT MONDO:0003268 mixed glioma oio:hasExactSynonym mixed neuroglial tumor mixed neuroglial tumor Mixed Neuroglial Tumor NCIT:C3903 Mixed Glioma confirmed mixed neuroglial tumor NCIT:C3903 NCIT MONDO:0003273 sternum cancer oio:hasExactSynonym malignant neoplasm of sternum malignant neoplasm of sternum Malignant Neoplasm of Sternum NCIT:C8408 Malignant Sternal Neoplasm confirmed malignant neoplasm of sternum NCIT:C8408 NCIT @@ -87026,10 +87026,10 @@ MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of central nervous system leiomyoma of central nervous system Leiomyoma of Central Nervous System NCIT:C6998 Central Nervous System Leiomyoma confirmed leiomyoma of central nervous system NCIT:C6998 NCIT MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of the CNS leiomyoma of the CNS Leiomyoma of the CNS NCIT:C6998 Central Nervous System Leiomyoma confirmed leiomyoma of the CNS NCIT:C6998 NCIT MONDO:0003287 central nervous system leiomyoma oio:hasExactSynonym leiomyoma of the central nervous system leiomyoma of the central nervous system Leiomyoma of the Central Nervous System NCIT:C6998 Central Nervous System Leiomyoma confirmed leiomyoma of the central nervous system NCIT:C6998 NCIT -MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed atypical leiomyoma NCIT:C4257 NCIT MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical Leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed atypical leiomyoma NCIT:C4257 NCIT -MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym bizarre leiomyoma bizarre leiomyoma Bizarre Leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed bizarre leiomyoma NCIT:C4257 NCIT +MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym atypical leiomyoma atypical leiomyoma Atypical leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed atypical leiomyoma NCIT:C4257 NCIT MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym bizarre leiomyoma bizarre leiomyoma Bizarre leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed bizarre leiomyoma NCIT:C4257 NCIT +MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym bizarre leiomyoma bizarre leiomyoma Bizarre Leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed bizarre leiomyoma NCIT:C4257 NCIT MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic Leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed pleomorphic leiomyoma NCIT:C4257 NCIT MONDO:0003288 bizarre leiomyoma oio:hasExactSynonym pleomorphic leiomyoma pleomorphic leiomyoma Pleomorphic leiomyoma NCIT:C4257 Bizarre Leiomyoma confirmed pleomorphic leiomyoma NCIT:C4257 NCIT MONDO:0003289 deep leiomyoma oio:hasExactSynonym deep leiomyoma deep leiomyoma Deep Leiomyoma NCIT:C6512 Deep Leiomyoma confirmed deep leiomyoma NCIT:C6512 NCIT @@ -87073,8 +87073,8 @@ MONDO:0003302 epithelioid neurofibroma oio:hasExactSynonym epithelioid neurofib MONDO:0003303 neurofibroma of gallbladder oio:hasExactSynonym gallbladder neurofibroma gallbladder neurofibroma Gallbladder Neurofibroma NCIT:C5746 Gallbladder Neurofibroma confirmed gallbladder neurofibroma NCIT:C5746 NCIT MONDO:0003303 neurofibroma of gallbladder oio:hasExactSynonym neurofibroma of gallbladder neurofibroma of gallbladder Neurofibroma of Gallbladder NCIT:C5746 Gallbladder Neurofibroma confirmed neurofibroma of gallbladder NCIT:C5746 NCIT MONDO:0003303 neurofibroma of gallbladder oio:hasExactSynonym neurofibroma of the gallbladder neurofibroma of the gallbladder Neurofibroma of the Gallbladder NCIT:C5746 Gallbladder Neurofibroma confirmed neurofibroma of the gallbladder NCIT:C5746 NCIT -MONDO:0003304 plexiform neurofibroma oio:hasExactSynonym plexiform neurofibroma plexiform neurofibroma Plexiform neurofibroma NCIT:C3797 Plexiform Neurofibroma confirmed plexiform neurofibroma NCIT:C3797 NCIT MONDO:0003304 plexiform neurofibroma oio:hasExactSynonym plexiform neurofibroma plexiform neurofibroma Plexiform Neurofibroma NCIT:C3797 Plexiform Neurofibroma confirmed plexiform neurofibroma NCIT:C3797 NCIT +MONDO:0003304 plexiform neurofibroma oio:hasExactSynonym plexiform neurofibroma plexiform neurofibroma Plexiform neurofibroma NCIT:C3797 Plexiform Neurofibroma confirmed plexiform neurofibroma NCIT:C3797 NCIT MONDO:0003305 cellular neurofibroma oio:hasExactSynonym cellular neurofibroma cellular neurofibroma Cellular Neurofibroma NCIT:C41427 Cellular Neurofibroma confirmed cellular neurofibroma NCIT:C41427 NCIT MONDO:0003308 pleural mesothelioma oio:hasExactSynonym pleural mesothelioma pleural mesothelioma Pleural Mesothelioma NCIT:C9351 Pleural Mesothelial Neoplasm confirmed pleural mesothelioma NCIT:C9351 NCIT MONDO:0003310 Monckeberg arteriosclerosis oio:hasExactSynonym Mönckeberg arteriosclerosis Mönckeberg arteriosclerosis Mönckeberg Arteriosclerosis NCIT:C35770 Monckeberg Arteriosclerosis confirmed Mönckeberg arteriosclerosis NCIT:C35770 NCIT @@ -87178,8 +87178,8 @@ MONDO:0003354 heart sarcoma oio:hasExactSynonym sarcoma of the heart sarcoma of MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of ovary leiomyosarcoma of ovary Leiomyosarcoma of Ovary NCIT:C5234 Ovarian Leiomyosarcoma confirmed leiomyosarcoma of ovary NCIT:C5234 NCIT MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of the ovary leiomyosarcoma of the ovary Leiomyosarcoma of the Ovary NCIT:C5234 Ovarian Leiomyosarcoma confirmed leiomyosarcoma of the ovary NCIT:C5234 NCIT MONDO:0003355 ovary leiomyosarcoma oio:hasExactSynonym ovarian leiomyosarcoma ovarian leiomyosarcoma Ovarian Leiomyosarcoma NCIT:C5234 Ovarian Leiomyosarcoma confirmed ovarian leiomyosarcoma NCIT:C5234 NCIT -MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid Leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma confirmed epithelioid leiomyosarcoma NCIT:C3700 NCIT MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma confirmed epithelioid leiomyosarcoma NCIT:C3700 NCIT +MONDO:0003356 epithelioid leiomyosarcoma oio:hasExactSynonym epithelioid leiomyosarcoma epithelioid leiomyosarcoma Epithelioid Leiomyosarcoma NCIT:C3700 Epithelioid Leiomyosarcoma confirmed epithelioid leiomyosarcoma NCIT:C3700 NCIT MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of lung leiomyosarcoma of lung Leiomyosarcoma of Lung NCIT:C5667 Lung Leiomyosarcoma confirmed leiomyosarcoma of lung NCIT:C5667 NCIT MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym leiomyosarcoma of the lung leiomyosarcoma of the lung Leiomyosarcoma of the Lung NCIT:C5667 Lung Leiomyosarcoma confirmed leiomyosarcoma of the lung NCIT:C5667 NCIT MONDO:0003357 lung leiomyosarcoma oio:hasExactSynonym lung leiomyosarcoma lung leiomyosarcoma Lung Leiomyosarcoma NCIT:C5667 Lung Leiomyosarcoma confirmed lung leiomyosarcoma NCIT:C5667 NCIT @@ -87274,8 +87274,8 @@ MONDO:0003387 urethra clear cell adenocarcinoma oio:hasExactSynonym clear cell MONDO:0003387 urethra clear cell adenocarcinoma oio:hasExactSynonym urethra clear cell adenocarcinoma urethra clear cell adenocarcinoma Urethra Clear Cell Adenocarcinoma NCIT:C6172 Urethral Clear Cell Adenocarcinoma confirmed urethra clear cell adenocarcinoma NCIT:C6172 NCIT MONDO:0003387 urethra clear cell adenocarcinoma oio:hasExactSynonym urethral clear cell adenocarcinoma urethral clear cell adenocarcinoma Urethral Clear Cell Adenocarcinoma NCIT:C6172 Urethral Clear Cell Adenocarcinoma confirmed urethral clear cell adenocarcinoma NCIT:C6172 NCIT MONDO:0003388 ampulla of vater clear cell adenocarcinoma oio:hasExactSynonym ampulla of Vater clear cell adenocarcinoma ampulla of Vater clear cell adenocarcinoma Ampulla of Vater Clear Cell Adenocarcinoma NCIT:C27414 Ampulla of Vater Clear Cell Adenocarcinoma confirmed ampulla of Vater clear cell adenocarcinoma NCIT:C27414 NCIT -MONDO:0003389 epithelial-myoepithelial carcinoma oio:hasExactSynonym epithelial-myoepithelial carcinoma epithelial-myoepithelial carcinoma Epithelial-myoepithelial carcinoma NCIT:C4199 Epithelial-Myoepithelial Carcinoma confirmed epithelial-myoepithelial carcinoma NCIT:C4199 NCIT MONDO:0003389 epithelial-myoepithelial carcinoma oio:hasExactSynonym epithelial-myoepithelial carcinoma epithelial-myoepithelial carcinoma Epithelial-Myoepithelial Carcinoma NCIT:C4199 Epithelial-Myoepithelial Carcinoma confirmed epithelial-myoepithelial carcinoma NCIT:C4199 NCIT +MONDO:0003389 epithelial-myoepithelial carcinoma oio:hasExactSynonym epithelial-myoepithelial carcinoma epithelial-myoepithelial carcinoma Epithelial-myoepithelial carcinoma NCIT:C4199 Epithelial-Myoepithelial Carcinoma confirmed epithelial-myoepithelial carcinoma NCIT:C4199 NCIT MONDO:0003390 glycogen-rich clear cell breast carcinoma oio:hasExactSynonym glycogen-rich, clear cell breast carcinoma glycogen-rich, clear cell breast carcinoma Glycogen-Rich, Clear Cell Breast Carcinoma NCIT:C40368 Glycogen-Rich, Clear Cell Breast Carcinoma confirmed glycogen-rich, clear cell breast carcinoma NCIT:C40368 NCIT MONDO:0003392 fallopian tube germ cell tumor oio:hasExactSynonym fallopian tube germ cell neoplasm fallopian tube germ cell neoplasm Fallopian Tube Germ Cell Neoplasm NCIT:C40130 Fallopian Tube Germ Cell Tumor confirmed fallopian tube germ cell neoplasm NCIT:C40130 NCIT MONDO:0003392 fallopian tube germ cell tumor oio:hasExactSynonym fallopian tube germ cell tumor fallopian tube germ cell tumor Fallopian Tube Germ Cell Tumor NCIT:C40130 Fallopian Tube Germ Cell Tumor confirmed fallopian tube germ cell tumor NCIT:C40130 NCIT @@ -87334,8 +87334,8 @@ MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym neoplasm of hair folli MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym neoplasm of the hair follicle neoplasm of the hair follicle Neoplasm of the Hair Follicle NCIT:C7367 Hair Follicle Neoplasm confirmed neoplasm of the hair follicle NCIT:C7367 NCIT MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym Pilomatrical carcinoma Pilomatrical carcinoma Pilomatrical Carcinoma NCIT:C4114 Pilomatrical Carcinoma confirmed Pilomatrical carcinoma NCIT:C4114 NCIT MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym invasive pilomatrixoma invasive pilomatrixoma Invasive Pilomatrixoma NCIT:C4114 Pilomatrical Carcinoma confirmed invasive pilomatrixoma NCIT:C4114 NCIT -MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym matrical carcinoma matrical carcinoma Matrical Carcinoma NCIT:C4114 Pilomatrical Carcinoma confirmed matrical carcinoma NCIT:C4114 NCIT MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym matrical carcinoma matrical carcinoma Matrical carcinoma NCIT:C4114 Pilomatrical Carcinoma confirmed matrical carcinoma NCIT:C4114 NCIT +MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym matrical carcinoma matrical carcinoma Matrical Carcinoma NCIT:C4114 Pilomatrical Carcinoma confirmed matrical carcinoma NCIT:C4114 NCIT MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym pilomatrix carcinoma pilomatrix carcinoma Pilomatrix Carcinoma NCIT:C4114 Pilomatrical Carcinoma confirmed pilomatrix carcinoma NCIT:C4114 NCIT MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym pilomatrix carcinoma pilomatrix carcinoma Pilomatrix carcinoma NCIT:C4114 Pilomatrical Carcinoma confirmed pilomatrix carcinoma NCIT:C4114 NCIT MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym pilomatrix carcinoma of skin pilomatrix carcinoma of skin Pilomatrix Carcinoma of Skin NCIT:C4114 Pilomatrical Carcinoma confirmed pilomatrix carcinoma of skin NCIT:C4114 NCIT @@ -87343,8 +87343,8 @@ MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym pilomatrix carcinom MONDO:0003414 skin pilomatrix carcinoma oio:hasExactSynonym pilomatrix skin carcinoma pilomatrix skin carcinoma Pilomatrix Skin Carcinoma NCIT:C4114 Pilomatrical Carcinoma confirmed pilomatrix skin carcinoma NCIT:C4114 NCIT MONDO:0003419 Bartholin gland adenoma oio:hasExactSynonym Bartholin gland adenoma Bartholin gland adenoma Bartholin Gland Adenoma NCIT:C40299 Bartholin Gland Adenoma confirmed Bartholin gland adenoma NCIT:C40299 NCIT MONDO:0003419 Bartholin gland adenoma oio:hasExactSynonym Bartholin's gland adenoma Bartholin's gland adenoma Bartholin's Gland Adenoma NCIT:C40299 Bartholin Gland Adenoma confirmed Bartholin's gland adenoma NCIT:C40299 NCIT -MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct cystadenoma bile duct cystadenoma Bile duct cystadenoma NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm confirmed bile duct cystadenoma NCIT:C4129 NCIT MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct cystadenoma bile duct cystadenoma Bile Duct Cystadenoma NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm confirmed bile duct cystadenoma NCIT:C4129 NCIT +MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct cystadenoma bile duct cystadenoma Bile duct cystadenoma NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm confirmed bile duct cystadenoma NCIT:C4129 NCIT MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym bile duct mucinous cystic neoplasm bile duct mucinous cystic neoplasm Bile Duct Mucinous Cystic Neoplasm NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm confirmed bile duct mucinous cystic neoplasm NCIT:C4129 NCIT MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym cystadenoma of bile duct cystadenoma of bile duct Cystadenoma of Bile Duct NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm confirmed cystadenoma of bile duct NCIT:C4129 NCIT MONDO:0003420 bile duct cystadenoma oio:hasExactSynonym cystadenoma of the bile duct cystadenoma of the bile duct Cystadenoma of the Bile Duct NCIT:C4129 Bile Duct Mucinous Cystic Neoplasm confirmed cystadenoma of the bile duct NCIT:C4129 NCIT @@ -87431,8 +87431,8 @@ MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym adenoma of the MONDO:0003445 extrahepatic bile duct adenoma oio:hasExactSynonym extrahepatic bile duct adenoma extrahepatic bile duct adenoma Extrahepatic Bile Duct Adenoma NCIT:C5857 Extrahepatic Bile Duct Adenoma confirmed extrahepatic bile duct adenoma NCIT:C5857 NCIT MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma papilliferum NCIT:C4171 Hidradenoma Papilliferum confirmed hidradenoma papilliferum NCIT:C4171 NCIT MONDO:0003446 papillary hidradenoma oio:hasExactSynonym hidradenoma papilliferum hidradenoma papilliferum Hidradenoma Papilliferum NCIT:C4171 Hidradenoma Papilliferum confirmed hidradenoma papilliferum NCIT:C4171 NCIT -MONDO:0003447 clear cell hidradenoma oio:hasExactSynonym clear cell hidradenoma clear cell hidradenoma Clear cell hidradenoma NCIT:C7567 Clear Cell Hidradenoma confirmed clear cell hidradenoma NCIT:C7567 NCIT MONDO:0003447 clear cell hidradenoma oio:hasExactSynonym clear cell hidradenoma clear cell hidradenoma Clear Cell Hidradenoma NCIT:C7567 Clear Cell Hidradenoma confirmed clear cell hidradenoma NCIT:C7567 NCIT +MONDO:0003447 clear cell hidradenoma oio:hasExactSynonym clear cell hidradenoma clear cell hidradenoma Clear cell hidradenoma NCIT:C7567 Clear Cell Hidradenoma confirmed clear cell hidradenoma NCIT:C7567 NCIT MONDO:0003448 benign spiradenoma oio:hasExactSynonym spiradenoma spiradenoma Spiradenoma NCIT:C4170 Spiradenoma confirmed spiradenoma NCIT:C4170 NCIT MONDO:0003453 conjunctival intraepithelial neoplasm oio:hasExactSynonym conjunctiva intraepithelial neoplasia conjunctiva intraepithelial neoplasia Conjunctiva Intraepithelial Neoplasia NCIT:C6120 Conjunctival Squamous Intraepithelial Neoplasia confirmed conjunctiva intraepithelial neoplasia NCIT:C6120 NCIT MONDO:0003453 conjunctival intraepithelial neoplasm oio:hasExactSynonym conjunctival intraepithelial neoplasia conjunctival intraepithelial neoplasia Conjunctival Intraepithelial Neoplasia NCIT:C6120 Conjunctival Squamous Intraepithelial Neoplasia confirmed conjunctival intraepithelial neoplasia NCIT:C6120 NCIT @@ -87462,8 +87462,8 @@ MONDO:0003460 clear cell adenofibroma oio:hasExactSynonym clear cell adenofibro MONDO:0003460 clear cell adenofibroma oio:hasExactSynonym clear cell adenofibroma clear cell adenofibroma Clear Cell Adenofibroma NCIT:C8987 Clear Cell Adenofibroma confirmed clear cell adenofibroma NCIT:C8987 NCIT MONDO:0003461 fallopian tube serous adenofibroma oio:hasExactSynonym fallopian tube adenofibroma fallopian tube adenofibroma Fallopian Tube Adenofibroma NCIT:C40113 Fallopian Tube Serous Adenofibroma confirmed fallopian tube adenofibroma NCIT:C40113 NCIT MONDO:0003461 fallopian tube serous adenofibroma oio:hasExactSynonym fallopian tube serous adenofibroma fallopian tube serous adenofibroma Fallopian Tube Serous Adenofibroma NCIT:C40113 Fallopian Tube Serous Adenofibroma confirmed fallopian tube serous adenofibroma NCIT:C40113 NCIT -MONDO:0003462 papillary adenofibroma oio:hasExactSynonym papillary adenofibroma papillary adenofibroma Papillary adenofibroma NCIT:C8986 Papillary Adenofibroma confirmed papillary adenofibroma NCIT:C8986 NCIT MONDO:0003462 papillary adenofibroma oio:hasExactSynonym papillary adenofibroma papillary adenofibroma Papillary Adenofibroma NCIT:C8986 Papillary Adenofibroma confirmed papillary adenofibroma NCIT:C8986 NCIT +MONDO:0003462 papillary adenofibroma oio:hasExactSynonym papillary adenofibroma papillary adenofibroma Papillary adenofibroma NCIT:C8986 Papillary Adenofibroma confirmed papillary adenofibroma NCIT:C8986 NCIT MONDO:0003463 ovarian endometrioid adenofibroma oio:hasExactSynonym ovarian endometrioid adenofibroma ovarian endometrioid adenofibroma Ovarian Endometrioid Adenofibroma NCIT:C27287 Ovarian Endometrioid Adenofibroma confirmed ovarian endometrioid adenofibroma NCIT:C27287 NCIT MONDO:0003464 cystadenofibroma oio:hasExactSynonym cystadenofibroma cystadenofibroma Cystadenofibroma NCIT:C8985 Cystadenofibroma confirmed cystadenofibroma NCIT:C8985 NCIT MONDO:0003465 fibrous synovial sarcoma oio:hasExactSynonym fibrous sarcoma of synovium fibrous sarcoma of synovium Fibrous Sarcoma of Synovium NCIT:C6533 Fibrous Synovial Sarcoma confirmed fibrous sarcoma of synovium NCIT:C6533 NCIT @@ -87487,10 +87487,10 @@ MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym ependymoma of the spin MONDO:0003473 spinal cord ependymoma oio:hasExactSynonym spinal cord ependymoma spinal cord ependymoma Spinal Cord Ependymoma NCIT:C3875 Spinal Cord Ependymoma confirmed spinal cord ependymoma NCIT:C3875 NCIT MONDO:0003474 tanycytic ependymoma oio:hasExactSynonym tanycytic ependymoma tanycytic ependymoma Tanycytic ependymoma NCIT:C6903 Tanycytic Ependymoma confirmed tanycytic ependymoma NCIT:C6903 NCIT MONDO:0003474 tanycytic ependymoma oio:hasExactSynonym tanycytic ependymoma tanycytic ependymoma Tanycytic Ependymoma NCIT:C6903 Tanycytic Ependymoma confirmed tanycytic ependymoma NCIT:C6903 NCIT -MONDO:0003475 papillary ependymoma oio:hasExactSynonym papillary ependymoma papillary ependymoma Papillary Ependymoma NCIT:C4319 Papillary Ependymoma confirmed papillary ependymoma NCIT:C4319 NCIT MONDO:0003475 papillary ependymoma oio:hasExactSynonym papillary ependymoma papillary ependymoma Papillary ependymoma NCIT:C4319 Papillary Ependymoma confirmed papillary ependymoma NCIT:C4319 NCIT -MONDO:0003476 clear cell ependymoma oio:hasExactSynonym clear cell ependymoma clear cell ependymoma Clear Cell Ependymoma NCIT:C4714 Clear Cell Ependymoma confirmed clear cell ependymoma NCIT:C4714 NCIT +MONDO:0003475 papillary ependymoma oio:hasExactSynonym papillary ependymoma papillary ependymoma Papillary Ependymoma NCIT:C4319 Papillary Ependymoma confirmed papillary ependymoma NCIT:C4319 NCIT MONDO:0003476 clear cell ependymoma oio:hasExactSynonym clear cell ependymoma clear cell ependymoma Clear cell ependymoma NCIT:C4714 Clear Cell Ependymoma confirmed clear cell ependymoma NCIT:C4714 NCIT +MONDO:0003476 clear cell ependymoma oio:hasExactSynonym clear cell ependymoma clear cell ependymoma Clear Cell Ependymoma NCIT:C4714 Clear Cell Ependymoma confirmed clear cell ependymoma NCIT:C4714 NCIT MONDO:0003477 brain stem ependymoma oio:hasExactSynonym brain stem ependymoma brain stem ependymoma Brain Stem Ependymoma NCIT:C5098 Brain Stem Ependymoma confirmed brain stem ependymoma NCIT:C5098 NCIT MONDO:0003478 childhood ependymoma oio:hasExactSynonym childhood ependymoma childhood ependymoma Childhood Ependymoma NCIT:C8578 Childhood Ependymoma confirmed childhood ependymoma NCIT:C8578 NCIT MONDO:0003478 childhood ependymoma oio:hasExactSynonym pediatric ependymoma pediatric ependymoma Pediatric Ependymoma NCIT:C8578 Childhood Ependymoma confirmed pediatric ependymoma NCIT:C8578 NCIT @@ -87502,8 +87502,8 @@ MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym germ cell dysgerminoma MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym germ cell dysgerminoma of the ovary germ cell dysgerminoma of the ovary Germ Cell Dysgerminoma of the Ovary NCIT:C8106 Ovarian Dysgerminoma confirmed germ cell dysgerminoma of the ovary NCIT:C8106 NCIT MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym ovarian dysgerminoma ovarian dysgerminoma Ovarian Dysgerminoma NCIT:C8106 Ovarian Dysgerminoma confirmed ovarian dysgerminoma NCIT:C8106 NCIT MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym ovarian germ cell dysgerminoma ovarian germ cell dysgerminoma Ovarian Germ Cell Dysgerminoma NCIT:C8106 Ovarian Dysgerminoma confirmed ovarian germ cell dysgerminoma NCIT:C8106 NCIT -MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym basaloid squamous cell carcinoma basaloid squamous cell carcinoma Basaloid squamous cell carcinoma NCIT:C54244 Basaloid Squamous Cell Carcinoma confirmed basaloid squamous cell carcinoma NCIT:C54244 NCIT MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym basaloid squamous cell carcinoma basaloid squamous cell carcinoma Basaloid Squamous Cell Carcinoma NCIT:C54244 Basaloid Squamous Cell Carcinoma confirmed basaloid squamous cell carcinoma NCIT:C54244 NCIT +MONDO:0003486 basaloid squamous cell carcinoma oio:hasExactSynonym basaloid squamous cell carcinoma basaloid squamous cell carcinoma Basaloid squamous cell carcinoma NCIT:C54244 Basaloid Squamous Cell Carcinoma confirmed basaloid squamous cell carcinoma NCIT:C54244 NCIT MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym adenoid squamous carcinoma adenoid squamous carcinoma Adenoid Squamous Carcinoma NCIT:C4106 Pseudoglandular Squamous Cell Carcinoma confirmed adenoid squamous carcinoma NCIT:C4106 NCIT MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym adenoid squamous cell carcinoma adenoid squamous cell carcinoma Adenoid Squamous Cell Carcinoma NCIT:C4106 Pseudoglandular Squamous Cell Carcinoma confirmed adenoid squamous cell carcinoma NCIT:C4106 NCIT MONDO:0003487 pseudoglandular squamous cell carcinoma oio:hasExactSynonym pseudoglandular epidermoid carcinoma pseudoglandular epidermoid carcinoma Pseudoglandular Epidermoid Carcinoma NCIT:C4106 Pseudoglandular Squamous Cell Carcinoma confirmed pseudoglandular epidermoid carcinoma NCIT:C4106 NCIT @@ -87602,13 +87602,13 @@ MONDO:0003513 gastric teratoma oio:hasExactSynonym teratoma of the stomach tera MONDO:0003514 malignant teratoma oio:hasExactSynonym teratoma, malignant teratoma, malignant TERATOMA, MALIGNANT NCIT:C4287 Malignant Teratoma confirmed teratoma, malignant NCIT:C4287 NCIT MONDO:0003515 fallopian tube teratoma oio:hasExactSynonym fallopian tube teratoma fallopian tube teratoma Fallopian Tube Teratoma NCIT:C40131 Fallopian Tube Teratoma confirmed fallopian tube teratoma NCIT:C40131 NCIT MONDO:0003516 adult teratoma oio:hasExactSynonym adult teratoma adult teratoma Adult Teratoma NCIT:C9013 Adult Teratoma confirmed adult teratoma NCIT:C9013 NCIT -MONDO:0003517 mature teratoma oio:hasExactSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma confirmed mature teratoma NCIT:C9015 NCIT MONDO:0003517 mature teratoma oio:hasExactSynonym mature teratoma mature teratoma Mature Teratoma NCIT:C9015 Mature Teratoma confirmed mature teratoma NCIT:C9015 NCIT +MONDO:0003517 mature teratoma oio:hasExactSynonym mature teratoma mature teratoma Mature teratoma NCIT:C9015 Mature Teratoma confirmed mature teratoma NCIT:C9015 NCIT MONDO:0003518 mediastinum teratoma oio:hasExactSynonym teratoma of mediastinum teratoma of mediastinum Teratoma of Mediastinum NCIT:C6438 Mediastinal Teratoma confirmed teratoma of mediastinum NCIT:C6438 NCIT MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic Adnexal Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed microcystic adnexal carcinoma NCIT:C7581 NCIT MONDO:0003519 malignant syringoma oio:hasExactSynonym microcystic adnexal carcinoma microcystic adnexal carcinoma Microcystic adnexal carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed microcystic adnexal carcinoma NCIT:C7581 NCIT -MONDO:0003519 malignant syringoma oio:hasExactSynonym syringomatous carcinoma syringomatous carcinoma Syringomatous Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed syringomatous carcinoma NCIT:C7581 NCIT MONDO:0003519 malignant syringoma oio:hasExactSynonym syringomatous carcinoma syringomatous carcinoma Syringomatous carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed syringomatous carcinoma NCIT:C7581 NCIT +MONDO:0003519 malignant syringoma oio:hasExactSynonym syringomatous carcinoma syringomatous carcinoma Syringomatous Carcinoma NCIT:C7581 Microcystic Adnexal Carcinoma confirmed syringomatous carcinoma NCIT:C7581 NCIT MONDO:0003522 male orgasm disorder oio:hasExactSynonym male orgasmic disorder male orgasmic disorder Male Orgasmic Disorder NCIT:C34959 Male Orgasmic Disorder confirmed male orgasmic disorder NCIT:C34959 NCIT MONDO:0003523 gastrin-producing neuroendocrine tumor oio:hasExactSynonym G cell tumor G cell tumor G Cell Tumor NCIT:C3050 Gastrin-Producing Neuroendocrine Tumor confirmed G cell tumor NCIT:C3050 NCIT MONDO:0003523 gastrin-producing neuroendocrine tumor oio:hasExactSynonym G-cell gastrin producing tumor G-cell gastrin producing tumor G-Cell Gastrin Producing Tumor NCIT:C3050 Gastrin-Producing Neuroendocrine Tumor confirmed G-cell gastrin producing tumor NCIT:C3050 NCIT @@ -87639,8 +87639,8 @@ MONDO:0003534 papillary thymic adenocarcinoma oio:hasExactSynonym papillary car MONDO:0003534 papillary thymic adenocarcinoma oio:hasExactSynonym thymic papillary adenocarcinoma thymic papillary adenocarcinoma Thymic Papillary Adenocarcinoma NCIT:C27937 Thymic Low Grade Papillary Adenocarcinoma confirmed thymic papillary adenocarcinoma NCIT:C27937 NCIT MONDO:0003534 papillary thymic adenocarcinoma oio:hasExactSynonym thymic papillary carcinoma thymic papillary carcinoma Thymic Papillary Carcinoma NCIT:C27937 Thymic Low Grade Papillary Adenocarcinoma confirmed thymic papillary carcinoma NCIT:C27937 NCIT MONDO:0003535 fallopian tube papillary adenocarcinoma oio:hasExactSynonym fallopian tube papillary adenocarcinoma fallopian tube papillary adenocarcinoma Fallopian Tube Papillary Adenocarcinoma NCIT:C6267 Fallopian Tube Papillary Adenocarcinoma confirmed fallopian tube papillary adenocarcinoma NCIT:C6267 NCIT -MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia oio:hasExactSynonym T lymphoblastic leukemia/lymphoma NCIT:C8694 T Lymphoblastic Leukemia/Lymphoma confirmed T lymphoblastic leukemia/lymphoma NCIT:C8694 NCIT MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia oio:hasExactSynonym T lymphoblastic leukemia/lymphoma T lymphoblastic leukemia/lymphoma T Lymphoblastic Leukemia/Lymphoma NCIT:C8694 T Lymphoblastic Leukemia/Lymphoma confirmed T lymphoblastic leukemia/lymphoma NCIT:C8694 NCIT +MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia oio:hasExactSynonym T lymphoblastic leukemia/lymphoma NCIT:C8694 T Lymphoblastic Leukemia/Lymphoma confirmed T lymphoblastic leukemia/lymphoma NCIT:C8694 NCIT MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor T lymphoblastic leukemia/lymphoma precursor T lymphoblastic leukemia/lymphoma Precursor T Lymphoblastic Leukemia/Lymphoma NCIT:C8694 T Lymphoblastic Leukemia/Lymphoma confirmed precursor T lymphoblastic leukemia/lymphoma NCIT:C8694 NCIT MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor T lymphoblastic lymphoma/leukemia precursor T lymphoblastic lymphoma/leukemia Precursor T Lymphoblastic Lymphoma/Leukemia NCIT:C8694 T Lymphoblastic Leukemia/Lymphoma confirmed precursor T lymphoblastic lymphoma/leukemia NCIT:C8694 NCIT MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia oio:hasExactSynonym precursor T-lymphoblastic lymphoma/leukemia precursor T-lymphoblastic lymphoma/leukemia Precursor T-Lymphoblastic Lymphoma/Leukemia NCIT:C8694 T Lymphoblastic Leukemia/Lymphoma confirmed precursor T-lymphoblastic lymphoma/leukemia NCIT:C8694 NCIT @@ -87704,8 +87704,8 @@ MONDO:0003558 adenosquamous prostate carcinoma oio:hasExactSynonym prostate ade MONDO:0003561 malignant giant cell tumor of soft parts oio:hasExactSynonym giant cell fibrous histiocytoma giant cell fibrous histiocytoma Giant Cell Fibrous Histiocytoma NCIT:C8380 Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells confirmed giant cell fibrous histiocytoma NCIT:C8380 NCIT MONDO:0003561 malignant giant cell tumor of soft parts oio:hasExactSynonym giant cell malignant fibrous histiocytoma giant cell malignant fibrous histiocytoma Giant Cell Malignant Fibrous Histiocytoma NCIT:C8380 Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells confirmed giant cell malignant fibrous histiocytoma NCIT:C8380 NCIT MONDO:0003561 malignant giant cell tumor of soft parts oio:hasExactSynonym malignant giant cell neoplasm of soft parts malignant giant cell neoplasm of soft parts Malignant Giant Cell Neoplasm of Soft Parts NCIT:C8380 Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells confirmed malignant giant cell neoplasm of soft parts NCIT:C8380 NCIT -MONDO:0003561 malignant giant cell tumor of soft parts oio:hasExactSynonym malignant giant cell tumor of soft parts malignant giant cell tumor of soft parts Malignant giant cell tumor of soft parts NCIT:C8380 Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells confirmed malignant giant cell tumor of soft parts NCIT:C8380 NCIT MONDO:0003561 malignant giant cell tumor of soft parts oio:hasExactSynonym malignant giant cell tumor of soft parts malignant giant cell tumor of soft parts Malignant Giant Cell Tumor of Soft Parts NCIT:C8380 Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells confirmed malignant giant cell tumor of soft parts NCIT:C8380 NCIT +MONDO:0003561 malignant giant cell tumor of soft parts oio:hasExactSynonym malignant giant cell tumor of soft parts malignant giant cell tumor of soft parts Malignant giant cell tumor of soft parts NCIT:C8380 Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells confirmed malignant giant cell tumor of soft parts NCIT:C8380 NCIT MONDO:0003561 malignant giant cell tumor of soft parts oio:hasExactSynonym undifferentiated pleomorphic sarcoma with osteoclast-like giant cells undifferentiated pleomorphic sarcoma with osteoclast-like giant cells Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells NCIT:C8380 Undifferentiated Pleomorphic Sarcoma with Osteoclast-Like Giant Cells confirmed undifferentiated pleomorphic sarcoma with osteoclast-like giant cells NCIT:C8380 NCIT MONDO:0003562 rete testis neoplasm oio:hasExactSynonym rete testis neoplasm rete testis neoplasm Rete Testis Neoplasm NCIT:C39955 Rete Testis Neoplasm confirmed rete testis neoplasm NCIT:C39955 NCIT MONDO:0003565 urethral villous adenoma oio:hasExactSynonym urethral villous adenoma urethral villous adenoma Urethral Villous Adenoma NCIT:C39872 Urethral Villous Adenoma confirmed urethral villous adenoma NCIT:C39872 NCIT @@ -87713,11 +87713,11 @@ MONDO:0003569 cranial nerve neuropathy oio:hasExactSynonym cranial nerve diseas MONDO:0003569 cranial nerve neuropathy oio:hasExactSynonym cranial nerve disorder cranial nerve disorder Cranial Nerve Disorder NCIT:C26733 Cranial Nerve Disorder confirmed cranial nerve disorder NCIT:C26733 NCIT MONDO:0003569 cranial nerve neuropathy oio:hasExactSynonym cranial neuropathy cranial neuropathy Cranial Neuropathy NCIT:C26733 Cranial Nerve Disorder confirmed cranial neuropathy NCIT:C26733 NCIT MONDO:0003569 cranial nerve neuropathy oio:hasExactSynonym disorder of cranial nerve disorder of cranial nerve Disorder of Cranial Nerve NCIT:C26733 Cranial Nerve Disorder confirmed disorder of cranial nerve NCIT:C26733 NCIT -MONDO:0003570 lipid-rich carcinoma oio:hasExactSynonym lipid-rich carcinoma lipid-rich carcinoma Lipid-Rich Carcinoma NCIT:C4152 Lipid-Rich Carcinoma confirmed lipid-rich carcinoma NCIT:C4152 NCIT MONDO:0003570 lipid-rich carcinoma oio:hasExactSynonym lipid-rich carcinoma lipid-rich carcinoma Lipid-rich carcinoma NCIT:C4152 Lipid-Rich Carcinoma confirmed lipid-rich carcinoma NCIT:C4152 NCIT +MONDO:0003570 lipid-rich carcinoma oio:hasExactSynonym lipid-rich carcinoma lipid-rich carcinoma Lipid-Rich Carcinoma NCIT:C4152 Lipid-Rich Carcinoma confirmed lipid-rich carcinoma NCIT:C4152 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym Schmincke tumor Schmincke tumor Schmincke Tumor NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed Schmincke tumor NCIT:C4107 NCIT -MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelial carcinoma NCIT:C4107 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelial carcinoma NCIT:C4107 NCIT +MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelial carcinoma lymphoepithelial carcinoma Lymphoepithelial Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelial carcinoma NCIT:C4107 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma lymphoepithelioma Lymphoepithelioma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelioma NCIT:C4107 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma-like carcinoma lymphoepithelioma-like carcinoma Lymphoepithelioma-Like Carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelioma-like carcinoma NCIT:C4107 NCIT MONDO:0003572 nasopharyngeal type undifferentiated carcinoma oio:hasExactSynonym lymphoepithelioma-like carcinoma lymphoepithelioma-like carcinoma Lymphoepithelioma-like carcinoma NCIT:C4107 Nasopharyngeal-Type Undifferentiated Carcinoma confirmed lymphoepithelioma-like carcinoma NCIT:C4107 NCIT @@ -87935,8 +87935,8 @@ MONDO:0003680 periosteal chondrosarcoma oio:hasExactSynonym periosteal chondros MONDO:0003680 periosteal chondrosarcoma oio:hasExactSynonym periosteal chondrosarcoma periosteal chondrosarcoma Periosteal chondrosarcoma NCIT:C7357 Periosteal Chondrosarcoma confirmed periosteal chondrosarcoma NCIT:C7357 NCIT MONDO:0003682 localized chondrosarcoma oio:hasExactSynonym chondrosarcoma, localized chondrosarcoma, localized Chondrosarcoma, Localized NCIT:C8778 Localized Chondrosarcoma confirmed chondrosarcoma, localized NCIT:C8778 NCIT MONDO:0003682 localized chondrosarcoma oio:hasExactSynonym localized chondrosarcoma localized chondrosarcoma Localized Chondrosarcoma NCIT:C8778 Localized Chondrosarcoma confirmed localized chondrosarcoma NCIT:C8778 NCIT -MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear cell chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma confirmed clear cell chondrosarcoma NCIT:C6475 NCIT MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear Cell Chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma confirmed clear cell chondrosarcoma NCIT:C6475 NCIT +MONDO:0003684 clear cell chondrosarcoma oio:hasExactSynonym clear cell chondrosarcoma clear cell chondrosarcoma Clear cell chondrosarcoma NCIT:C6475 Clear Cell Chondrosarcoma confirmed clear cell chondrosarcoma NCIT:C6475 NCIT MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell neoplasm of retroperitoneum germ cell neoplasm of retroperitoneum Germ Cell Neoplasm of Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor confirmed germ cell neoplasm of retroperitoneum NCIT:C6447 NCIT MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell neoplasm of the retroperitoneum germ cell neoplasm of the retroperitoneum Germ Cell Neoplasm of the Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor confirmed germ cell neoplasm of the retroperitoneum NCIT:C6447 NCIT MONDO:0003685 retroperitoneal germ cell neoplasm oio:hasExactSynonym germ cell tumor of retroperitoneum germ cell tumor of retroperitoneum Germ Cell Tumor of Retroperitoneum NCIT:C6447 Retroperitoneal Germ Cell Tumor confirmed germ cell tumor of retroperitoneum NCIT:C6447 NCIT @@ -87969,8 +87969,8 @@ MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym adult malignant e MONDO:0003690 adult anaplastic ependymoma oio:hasExactSynonym malignant adult ependymoma malignant adult ependymoma Malignant Adult Ependymoma NCIT:C8269 Adult Anaplastic Ependymoma confirmed malignant adult ependymoma NCIT:C8269 NCIT MONDO:0003691 childhood malignant mesenchymoma oio:hasExactSynonym childhood malignant mesenchymoma childhood malignant mesenchymoma Childhood Malignant Mesenchymoma NCIT:C8097 Childhood Malignant Mesenchymoma confirmed childhood malignant mesenchymoma NCIT:C8097 NCIT MONDO:0003692 adult malignant mesenchymoma oio:hasExactSynonym adult malignant mesenchymoma adult malignant mesenchymoma Adult Malignant Mesenchymoma NCIT:C7947 Adult Malignant Mesenchymoma confirmed adult malignant mesenchymoma NCIT:C7947 NCIT -MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear Cell Cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma confirmed clear cell cystadenofibroma NCIT:C8988 NCIT MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear cell cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma confirmed clear cell cystadenofibroma NCIT:C8988 NCIT +MONDO:0003693 clear cell cystadenofibroma oio:hasExactSynonym clear cell cystadenofibroma clear cell cystadenofibroma Clear Cell Cystadenofibroma NCIT:C8988 Clear Cell Cystadenofibroma confirmed clear cell cystadenofibroma NCIT:C8988 NCIT MONDO:0003694 ovarian clear cell cystadenofibroma oio:hasExactSynonym ovarian clear cell cystadenofibroma ovarian clear cell cystadenofibroma Ovarian Clear Cell Cystadenofibroma NCIT:C40086 Ovarian Clear Cell Cystadenofibroma confirmed ovarian clear cell cystadenofibroma NCIT:C40086 NCIT MONDO:0003695 ovarian clear cell adenofibroma oio:hasExactSynonym ovarian clear cell adenofibroma ovarian clear cell adenofibroma Ovarian Clear Cell Adenofibroma NCIT:C40085 Ovarian Clear Cell Adenofibroma confirmed ovarian clear cell adenofibroma NCIT:C40085 NCIT MONDO:0003697 non-invasive verrucous carcinoma of the penis oio:hasExactSynonym non-invasive penile verrucous carcinoma non-invasive penile verrucous carcinoma Non-Invasive Penile Verrucous Carcinoma NCIT:C27791 Non-Invasive Verrucous Carcinoma of the Penis confirmed non-invasive penile verrucous carcinoma NCIT:C27791 NCIT @@ -87994,8 +87994,8 @@ MONDO:0003700 brachial plexus neoplasm oio:hasExactSynonym tumor of brachial pl MONDO:0003700 brachial plexus neoplasm oio:hasExactSynonym tumor of the brachial plexus tumor of the brachial plexus Tumor of the Brachial Plexus NCIT:C5823 Brachial Plexus Neoplasm confirmed tumor of the brachial plexus NCIT:C5823 NCIT MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma oio:hasExactSynonym nonencapsulated sclerosing adenocarcinoma nonencapsulated sclerosing adenocarcinoma Nonencapsulated Sclerosing Adenocarcinoma NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma confirmed nonencapsulated sclerosing adenocarcinoma NCIT:C7427 NCIT MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma oio:hasExactSynonym nonencapsulated sclerosing adenocarcinoma nonencapsulated sclerosing adenocarcinoma Nonencapsulated sclerosing adenocarcinoma NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma confirmed nonencapsulated sclerosing adenocarcinoma NCIT:C7427 NCIT -MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma oio:hasExactSynonym nonencapsulated sclerosing carcinoma nonencapsulated sclerosing carcinoma Nonencapsulated Sclerosing Carcinoma NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma confirmed nonencapsulated sclerosing carcinoma NCIT:C7427 NCIT MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma oio:hasExactSynonym nonencapsulated sclerosing carcinoma nonencapsulated sclerosing carcinoma Nonencapsulated sclerosing carcinoma NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma confirmed nonencapsulated sclerosing carcinoma NCIT:C7427 NCIT +MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma oio:hasExactSynonym nonencapsulated sclerosing carcinoma nonencapsulated sclerosing carcinoma Nonencapsulated Sclerosing Carcinoma NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma confirmed nonencapsulated sclerosing carcinoma NCIT:C7427 NCIT MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma oio:hasExactSynonym nonencapsulated sclerosing neoplasm nonencapsulated sclerosing neoplasm Nonencapsulated Sclerosing Neoplasm NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma confirmed nonencapsulated sclerosing neoplasm NCIT:C7427 NCIT MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma oio:hasExactSynonym nonencapsulated sclerosing papillary thyroid carcinoma nonencapsulated sclerosing papillary thyroid carcinoma Nonencapsulated Sclerosing Papillary Thyroid Carcinoma NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma confirmed nonencapsulated sclerosing papillary thyroid carcinoma NCIT:C7427 NCIT MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma oio:hasExactSynonym nonencapsulated sclerosing tumor nonencapsulated sclerosing tumor Nonencapsulated sclerosing tumor NCIT:C7427 Diffuse Sclerosing Variant Thyroid Gland Papillary Carcinoma confirmed nonencapsulated sclerosing tumor NCIT:C7427 NCIT @@ -88187,8 +88187,8 @@ MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym pediatric o MONDO:0003760 pediatric ovarian germ cell tumor oio:hasExactSynonym pediatric ovarian germ cell tumor pediatric ovarian germ cell tumor Pediatric Ovarian Germ Cell Tumor NCIT:C8588 Childhood Ovarian Germ Cell Tumor confirmed pediatric ovarian germ cell tumor NCIT:C8588 NCIT MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym leptomeningeal melanoma leptomeningeal melanoma Leptomeningeal Melanoma NCIT:C5317 Meningeal Melanoma confirmed leptomeningeal melanoma NCIT:C5317 NCIT MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym melanoma of the leptomeninges melanoma of the leptomeninges Melanoma of the Leptomeninges NCIT:C5317 Meningeal Melanoma confirmed melanoma of the leptomeninges NCIT:C5317 NCIT -MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal melanoma NCIT:C5317 Meningeal Melanoma confirmed meningeal melanoma NCIT:C5317 NCIT MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal Melanoma NCIT:C5317 Meningeal Melanoma confirmed meningeal melanoma NCIT:C5317 NCIT +MONDO:0003761 leptomeningeal melanoma oio:hasExactSynonym meningeal melanoma meningeal melanoma Meningeal melanoma NCIT:C5317 Meningeal Melanoma confirmed meningeal melanoma NCIT:C5317 NCIT MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant leptomeningeal neoplasm malignant leptomeningeal neoplasm Malignant Leptomeningeal Neoplasm NCIT:C8506 Malignant Leptomeningeal Neoplasm confirmed malignant leptomeningeal neoplasm NCIT:C8506 NCIT MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant leptomeningeal tumor malignant leptomeningeal tumor Malignant Leptomeningeal Tumor NCIT:C8506 Malignant Leptomeningeal Neoplasm confirmed malignant leptomeningeal tumor NCIT:C8506 NCIT MONDO:0003762 malignant leptomeningeal tumor oio:hasExactSynonym malignant tumor of leptomeninges malignant tumor of leptomeninges Malignant Tumor of Leptomeninges NCIT:C8506 Malignant Leptomeningeal Neoplasm confirmed malignant tumor of leptomeninges NCIT:C8506 NCIT @@ -88562,8 +88562,8 @@ MONDO:0003866 liver extraskeletal osteosarcoma oio:hasExactSynonym osteogenic s MONDO:0003866 liver extraskeletal osteosarcoma oio:hasExactSynonym osteogenic sarcoma of the liver osteogenic sarcoma of the liver Osteogenic Sarcoma of the Liver NCIT:C5833 Liver Extraskeletal Osteosarcoma confirmed osteogenic sarcoma of the liver NCIT:C5833 NCIT MONDO:0003866 liver extraskeletal osteosarcoma oio:hasExactSynonym osteosarcoma of liver osteosarcoma of liver Osteosarcoma of Liver NCIT:C5833 Liver Extraskeletal Osteosarcoma confirmed osteosarcoma of liver NCIT:C5833 NCIT MONDO:0003866 liver extraskeletal osteosarcoma oio:hasExactSynonym osteosarcoma of the liver osteosarcoma of the liver Osteosarcoma of the Liver NCIT:C5833 Liver Extraskeletal Osteosarcoma confirmed osteosarcoma of the liver NCIT:C5833 NCIT -MONDO:0003867 diffuse meningeal melanocytosis oio:hasExactSynonym diffuse melanocytosis diffuse melanocytosis Diffuse Melanocytosis NCIT:C6890 Meningeal Melanocytosis confirmed diffuse melanocytosis NCIT:C6890 NCIT MONDO:0003867 diffuse meningeal melanocytosis oio:hasExactSynonym diffuse melanocytosis diffuse melanocytosis Diffuse melanocytosis NCIT:C6890 Meningeal Melanocytosis confirmed diffuse melanocytosis NCIT:C6890 NCIT +MONDO:0003867 diffuse meningeal melanocytosis oio:hasExactSynonym diffuse melanocytosis diffuse melanocytosis Diffuse Melanocytosis NCIT:C6890 Meningeal Melanocytosis confirmed diffuse melanocytosis NCIT:C6890 NCIT MONDO:0003867 diffuse meningeal melanocytosis oio:hasExactSynonym diffuse melanosis diffuse melanosis Diffuse Melanosis NCIT:C6890 Meningeal Melanocytosis confirmed diffuse melanosis NCIT:C6890 NCIT MONDO:0003867 diffuse meningeal melanocytosis oio:hasExactSynonym meningeal melanocytosis meningeal melanocytosis Meningeal Melanocytosis NCIT:C6890 Meningeal Melanocytosis confirmed meningeal melanocytosis NCIT:C6890 NCIT MONDO:0003868 anterior foramen magnum meningioma oio:hasExactSynonym meningioma of anterior Foramen magnum meningioma of anterior Foramen magnum Meningioma of Anterior Foramen Magnum NCIT:C5281 Anterior Foramen Magnum Meningioma confirmed meningioma of anterior Foramen magnum NCIT:C5281 NCIT @@ -88601,8 +88601,8 @@ MONDO:0003878 malignant choroid melanoma oio:hasExactSynonym melanoma of the ch MONDO:0003879 ovarian endometrioid adenocarcinofibroma oio:hasExactSynonym ovarian endometrioid adenocarcinofibroma ovarian endometrioid adenocarcinofibroma Ovarian Endometrioid Adenocarcinofibroma NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma confirmed ovarian endometrioid adenocarcinofibroma NCIT:C40060 NCIT MONDO:0003879 ovarian endometrioid adenocarcinofibroma oio:hasExactSynonym ovarian endometrioid malignant adenofibroma ovarian endometrioid malignant adenofibroma Ovarian Endometrioid Malignant Adenofibroma NCIT:C40060 Ovarian Endometrioid Adenocarcinofibroma confirmed ovarian endometrioid malignant adenofibroma NCIT:C40060 NCIT MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym carcinoma, ceruminous gland, malignant carcinoma, ceruminous gland, malignant CARCINOMA, CERUMINOUS GLAND, MALIGNANT NCIT:C4176 Ceruminous Adenocarcinoma confirmed carcinoma, ceruminous gland, malignant NCIT:C4176 NCIT -MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma confirmed ceruminous adenocarcinoma NCIT:C4176 NCIT MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous Adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma confirmed ceruminous adenocarcinoma NCIT:C4176 NCIT +MONDO:0003880 ceruminous carcinoma oio:hasExactSynonym ceruminous adenocarcinoma ceruminous adenocarcinoma Ceruminous adenocarcinoma NCIT:C4176 Ceruminous Adenocarcinoma confirmed ceruminous adenocarcinoma NCIT:C4176 NCIT MONDO:0003881 vulvar apocrine adenocarcinoma oio:hasExactSynonym vulvar apocrine adenocarcinoma vulvar apocrine adenocarcinoma Vulvar Apocrine Adenocarcinoma NCIT:C40308 Vulvar Apocrine Adenocarcinoma confirmed vulvar apocrine adenocarcinoma NCIT:C40308 NCIT MONDO:0003882 central nervous system fibrosarcoma oio:hasExactSynonym CNS fibrosarcoma CNS fibrosarcoma CNS Fibrosarcoma NCIT:C5465 Central Nervous System Fibrosarcoma confirmed CNS fibrosarcoma NCIT:C5465 NCIT MONDO:0003882 central nervous system fibrosarcoma oio:hasExactSynonym central nervous system fibrosarcoma central nervous system fibrosarcoma Central Nervous System Fibrosarcoma NCIT:C5465 Central Nervous System Fibrosarcoma confirmed central nervous system fibrosarcoma NCIT:C5465 NCIT @@ -88642,8 +88642,8 @@ MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocy MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocytic schwannoma of mediastinum melanocytic schwannoma of mediastinum Melanocytic Schwannoma of Mediastinum NCIT:C6635 Mediastinal Melanotic Schwannoma confirmed melanocytic schwannoma of mediastinum NCIT:C6635 NCIT MONDO:0003894 mediastinal melanocytic neurilemmoma oio:hasExactSynonym melanocytic schwannoma of the mediastinum melanocytic schwannoma of the mediastinum Melanocytic Schwannoma of the Mediastinum NCIT:C6635 Mediastinal Melanotic Schwannoma confirmed melanocytic schwannoma of the mediastinum NCIT:C6635 NCIT MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym juxtacortical chondroblastic osteosarcoma juxtacortical chondroblastic osteosarcoma Juxtacortical Chondroblastic Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma confirmed juxtacortical chondroblastic osteosarcoma NCIT:C8970 NCIT -MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal osteosarcoma NCIT:C8970 Periosteal Osteosarcoma confirmed periosteal osteosarcoma NCIT:C8970 NCIT MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal Osteosarcoma NCIT:C8970 Periosteal Osteosarcoma confirmed periosteal osteosarcoma NCIT:C8970 NCIT +MONDO:0003895 periosteal osteogenic sarcoma oio:hasExactSynonym periosteal osteosarcoma periosteal osteosarcoma Periosteal osteosarcoma NCIT:C8970 Periosteal Osteosarcoma confirmed periosteal osteosarcoma NCIT:C8970 NCIT MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym breast capillary angioma breast capillary angioma Breast Capillary Angioma NCIT:C5210 Breast Capillary Hemangioma confirmed breast capillary angioma NCIT:C5210 NCIT MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym breast capillary hemangioma breast capillary hemangioma Breast Capillary Hemangioma NCIT:C5210 Breast Capillary Hemangioma confirmed breast capillary hemangioma NCIT:C5210 NCIT MONDO:0003896 breast capillary hemangioma oio:hasExactSynonym capillary angioma of breast capillary angioma of breast Capillary Angioma of Breast NCIT:C5210 Breast Capillary Hemangioma confirmed capillary angioma of breast NCIT:C5210 NCIT @@ -89161,8 +89161,8 @@ MONDO:0004082 childhood immature teratoma of ovary oio:hasExactSynonym childhoo MONDO:0004082 childhood immature teratoma of ovary oio:hasExactSynonym pediatric immature teratoma of ovary pediatric immature teratoma of ovary Pediatric Immature Teratoma of Ovary NCIT:C6547 Childhood Ovarian Immature Teratoma confirmed pediatric immature teratoma of ovary NCIT:C6547 NCIT MONDO:0004082 childhood immature teratoma of ovary oio:hasExactSynonym pediatric immature teratoma of the ovary pediatric immature teratoma of the ovary Pediatric Immature Teratoma of the Ovary NCIT:C6547 Childhood Ovarian Immature Teratoma confirmed pediatric immature teratoma of the ovary NCIT:C6547 NCIT MONDO:0004082 childhood immature teratoma of ovary oio:hasExactSynonym pediatric ovarian immature teratoma pediatric ovarian immature teratoma Pediatric Ovarian Immature Teratoma NCIT:C6547 Childhood Ovarian Immature Teratoma confirmed pediatric ovarian immature teratoma NCIT:C6547 NCIT -MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma oio:hasExactSynonym intraepidermal epithelioma of Jadassohn intraepidermal epithelioma of Jadassohn Intraepidermal epithelioma of Jadassohn NCIT:C4110 Intraepidermal Epithelioma of Jadassohn confirmed intraepidermal epithelioma of Jadassohn NCIT:C4110 NCIT MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma oio:hasExactSynonym intraepidermal epithelioma of Jadassohn intraepidermal epithelioma of Jadassohn Intraepidermal Epithelioma of Jadassohn NCIT:C4110 Intraepidermal Epithelioma of Jadassohn confirmed intraepidermal epithelioma of Jadassohn NCIT:C4110 NCIT +MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma oio:hasExactSynonym intraepidermal epithelioma of Jadassohn intraepidermal epithelioma of Jadassohn Intraepidermal epithelioma of Jadassohn NCIT:C4110 Intraepidermal Epithelioma of Jadassohn confirmed intraepidermal epithelioma of Jadassohn NCIT:C4110 NCIT MONDO:0004085 choroid epithelioid cell melanoma oio:hasExactSynonym choroid epithelioid cell melanoma choroid epithelioid cell melanoma Choroid Epithelioid Cell Melanoma NCIT:C6102 Choroid Epithelioid Cell Melanoma confirmed choroid epithelioid cell melanoma NCIT:C6102 NCIT MONDO:0004085 choroid epithelioid cell melanoma oio:hasExactSynonym choroidal epithelioid cell melanoma choroidal epithelioid cell melanoma Choroidal Epithelioid Cell Melanoma NCIT:C6102 Choroid Epithelioid Cell Melanoma confirmed choroidal epithelioid cell melanoma NCIT:C6102 NCIT MONDO:0004085 choroid epithelioid cell melanoma oio:hasExactSynonym epithelioid cell melanoma of choroid epithelioid cell melanoma of choroid Epithelioid Cell Melanoma of Choroid NCIT:C6102 Choroid Epithelioid Cell Melanoma confirmed epithelioid cell melanoma of choroid NCIT:C6102 NCIT @@ -89198,8 +89198,8 @@ MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym malignant melanocytic peripheral nerve sheath tumor of mediastinum malignant melanocytic peripheral nerve sheath tumor of mediastinum Malignant Melanocytic Peripheral Nerve Sheath Tumor of Mediastinum NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum confirmed malignant melanocytic peripheral nerve sheath tumor of mediastinum NCIT:C6630 NCIT MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym malignant melanotic peripheral nerve sheath tumor of the mediastinum malignant melanotic peripheral nerve sheath tumor of the mediastinum Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum confirmed malignant melanotic peripheral nerve sheath tumor of the mediastinum NCIT:C6630 NCIT MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum oio:hasExactSynonym mediastinal melanocytic MPNST mediastinal melanocytic MPNST Mediastinal Melanocytic MPNST NCIT:C6630 Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum confirmed mediastinal melanocytic MPNST NCIT:C6630 NCIT -MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult Cystic Teratoma NCIT:C9012 Adult Cystic Teratoma confirmed adult cystic teratoma NCIT:C9012 NCIT MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult cystic teratoma NCIT:C9012 Adult Cystic Teratoma confirmed adult cystic teratoma NCIT:C9012 NCIT +MONDO:0004099 adult cystic teratoma oio:hasExactSynonym adult cystic teratoma adult cystic teratoma Adult Cystic Teratoma NCIT:C9012 Adult Cystic Teratoma confirmed adult cystic teratoma NCIT:C9012 NCIT MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym combined small cell and squamous cell lung carcinoma combined small cell and squamous cell lung carcinoma Combined Small Cell and Squamous Cell Lung Carcinoma NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma confirmed combined small cell and squamous cell lung carcinoma NCIT:C9423 NCIT MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym mixed small cell and squamous cell carcinoma of the lung mixed small cell and squamous cell carcinoma of the lung Mixed Small Cell and Squamous Cell Carcinoma of the Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma confirmed mixed small cell and squamous cell carcinoma of the lung NCIT:C9423 NCIT MONDO:0004100 lung mixed small cell and squamous cell carcinoma oio:hasExactSynonym small cell and squamous cell carcinoma of lung small cell and squamous cell carcinoma of lung Small Cell and Squamous Cell Carcinoma of Lung NCIT:C9423 Combined Lung Small Cell and Squamous Cell Carcinoma confirmed small cell and squamous cell carcinoma of lung NCIT:C9423 NCIT @@ -89290,8 +89290,8 @@ MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal Buschke-Lowenst MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal giant (malignant) condyloma anal giant (malignant) condyloma Anal Giant (Malignant) Condyloma NCIT:C7470 Anal Verrucous Carcinoma confirmed anal giant (malignant) condyloma NCIT:C7470 NCIT MONDO:0004131 anal verrucous carcinoma oio:hasExactSynonym anal verrucous carcinoma anal verrucous carcinoma Anal Verrucous Carcinoma NCIT:C7470 Anal Verrucous Carcinoma confirmed anal verrucous carcinoma NCIT:C7470 NCIT MONDO:0004132 anal canal squamous cell carcinoma oio:hasExactSynonym anal canal squamous cell carcinoma anal canal squamous cell carcinoma Anal Canal Squamous Cell Carcinoma NCIT:C7469 Anal Canal Squamous Cell Carcinoma confirmed anal canal squamous cell carcinoma NCIT:C7469 NCIT -MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed acidophil-basophil adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma confirmed mixed acidophil-basophil adenoma NCIT:C4148 NCIT MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed Acidophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma confirmed mixed acidophil-basophil adenoma NCIT:C4148 NCIT +MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym mixed acidophil-basophil adenoma mixed acidophil-basophil adenoma Mixed acidophil-basophil adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma confirmed mixed acidophil-basophil adenoma NCIT:C4148 NCIT MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma oio:hasExactSynonym pituitary gland mixed acidophil-basophil adenoma pituitary gland mixed acidophil-basophil adenoma Pituitary Gland Mixed Acidophil-Basophil Adenoma NCIT:C4148 Pituitary Gland Mixed Acidophil-Basophil Adenoma confirmed pituitary gland mixed acidophil-basophil adenoma NCIT:C4148 NCIT MONDO:0004134 benign dermal neurilemmoma oio:hasExactSynonym benign dermal schwannoma benign dermal schwannoma Benign Dermal Schwannoma NCIT:C5569 Cutaneous Schwannoma confirmed benign dermal schwannoma NCIT:C5569 NCIT MONDO:0004134 benign dermal neurilemmoma oio:hasExactSynonym benign neurilemmoma of skin benign neurilemmoma of skin Benign Neurilemmoma of Skin NCIT:C5569 Cutaneous Schwannoma confirmed benign neurilemmoma of skin NCIT:C5569 NCIT @@ -89311,11 +89311,11 @@ MONDO:0004142 lung combined large cell neuroendocrine carcinoma oio:hasExactSyno MONDO:0004142 lung combined large cell neuroendocrine carcinoma oio:hasExactSynonym combined large cell neuroendocrine carcinoma of lung combined large cell neuroendocrine carcinoma of lung Combined Large Cell Neuroendocrine Carcinoma of Lung NCIT:C7267 Combined Lung Large Cell Neuroendocrine Carcinoma confirmed combined large cell neuroendocrine carcinoma of lung NCIT:C7267 NCIT MONDO:0004142 lung combined large cell neuroendocrine carcinoma oio:hasExactSynonym combined large cell neuroendocrine carcinoma of the lung combined large cell neuroendocrine carcinoma of the lung Combined Large Cell Neuroendocrine Carcinoma of the Lung NCIT:C7267 Combined Lung Large Cell Neuroendocrine Carcinoma confirmed combined large cell neuroendocrine carcinoma of the lung NCIT:C7267 NCIT MONDO:0004142 lung combined large cell neuroendocrine carcinoma oio:hasExactSynonym pulmonary combined large cell neuroendocrine carcinoma pulmonary combined large cell neuroendocrine carcinoma Pulmonary Combined Large Cell Neuroendocrine Carcinoma NCIT:C7267 Combined Lung Large Cell Neuroendocrine Carcinoma confirmed pulmonary combined large cell neuroendocrine carcinoma NCIT:C7267 NCIT -MONDO:0004144 fibrous meningioma oio:hasExactSynonym fibroblastic meningioma fibroblastic meningioma Fibroblastic Meningioma NCIT:C4330 Fibrous Meningioma confirmed fibroblastic meningioma NCIT:C4330 NCIT MONDO:0004144 fibrous meningioma oio:hasExactSynonym fibroblastic meningioma fibroblastic meningioma Fibroblastic meningioma NCIT:C4330 Fibrous Meningioma confirmed fibroblastic meningioma NCIT:C4330 NCIT +MONDO:0004144 fibrous meningioma oio:hasExactSynonym fibroblastic meningioma fibroblastic meningioma Fibroblastic Meningioma NCIT:C4330 Fibrous Meningioma confirmed fibroblastic meningioma NCIT:C4330 NCIT MONDO:0004145 meningothelial meningioma oio:hasExactSynonym Meningotheliomatous meningioma Meningotheliomatous meningioma Meningotheliomatous Meningioma NCIT:C4329 Meningothelial Meningioma confirmed Meningotheliomatous meningioma NCIT:C4329 NCIT -MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed meningioma NCIT:C4333 Transitional Meningioma confirmed mixed meningioma NCIT:C4333 NCIT MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed Meningioma NCIT:C4333 Transitional Meningioma confirmed mixed meningioma NCIT:C4333 NCIT +MONDO:0004146 transitional meningioma oio:hasExactSynonym mixed meningioma mixed meningioma Mixed meningioma NCIT:C4333 Transitional Meningioma confirmed mixed meningioma NCIT:C4333 NCIT MONDO:0004146 transitional meningioma oio:hasExactSynonym transitional (mixed) meningioma transitional (mixed) meningioma Transitional (Mixed) Meningioma NCIT:C4333 Transitional Meningioma confirmed transitional (mixed) meningioma NCIT:C4333 NCIT MONDO:0004147 noninvasive malignant thymoma oio:hasExactSynonym malignant thymoma, noninvasive malignant thymoma, noninvasive Malignant Thymoma, Noninvasive NCIT:C9080 Noninvasive Malignant Thymoma confirmed malignant thymoma, noninvasive NCIT:C9080 NCIT MONDO:0004147 noninvasive malignant thymoma oio:hasExactSynonym thymoma malignant noninvasive thymoma malignant noninvasive Thymoma Malignant Noninvasive NCIT:C9080 Noninvasive Malignant Thymoma confirmed thymoma malignant noninvasive NCIT:C9080 NCIT @@ -89504,8 +89504,8 @@ MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynony MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance monoclonal gammopathy of undetermined significance Monoclonal gammopathy of undetermined significance NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance confirmed monoclonal gammopathy of undetermined significance NCIT:C3996 NCIT MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym monoclonal gammopathy of undetermined significance (MGUS) monoclonal gammopathy of undetermined significance (MGUS) Monoclonal Gammopathy of Undetermined Significance (MGUS) NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance confirmed monoclonal gammopathy of undetermined significance (MGUS) NCIT:C3996 NCIT MONDO:0004225 monoclonal gammopathy of uncertain significance oio:hasExactSynonym MGUS NCIT:C3996 Monoclonal Gammopathy of Undetermined Significance http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MGUS NCIT:C3996 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0004226 diffuse intraductal papillomatosis oio:hasExactSynonym diffuse intraductal papillomatosis diffuse intraductal papillomatosis Diffuse Intraductal Papillomatosis NCIT:C7364 Diffuse Intraductal Papillomatosis confirmed diffuse intraductal papillomatosis NCIT:C7364 NCIT MONDO:0004226 diffuse intraductal papillomatosis oio:hasExactSynonym diffuse intraductal papillomatosis diffuse intraductal papillomatosis Diffuse intraductal papillomatosis NCIT:C7364 Diffuse Intraductal Papillomatosis confirmed diffuse intraductal papillomatosis NCIT:C7364 NCIT +MONDO:0004226 diffuse intraductal papillomatosis oio:hasExactSynonym diffuse intraductal papillomatosis diffuse intraductal papillomatosis Diffuse Intraductal Papillomatosis NCIT:C7364 Diffuse Intraductal Papillomatosis confirmed diffuse intraductal papillomatosis NCIT:C7364 NCIT MONDO:0004227 epididymal adenomatoid tumor oio:hasExactSynonym adenomatoid tumor of epididymis adenomatoid tumor of epididymis Adenomatoid Tumor of Epididymis NCIT:C6382 Epididymal Adenomatoid Tumor confirmed adenomatoid tumor of epididymis NCIT:C6382 NCIT MONDO:0004227 epididymal adenomatoid tumor oio:hasExactSynonym adenomatoid tumor of the epididymis adenomatoid tumor of the epididymis Adenomatoid Tumor of the Epididymis NCIT:C6382 Epididymal Adenomatoid Tumor confirmed adenomatoid tumor of the epididymis NCIT:C6382 NCIT MONDO:0004227 epididymal adenomatoid tumor oio:hasExactSynonym epididymal adenomatoid tumor epididymal adenomatoid tumor Epididymal Adenomatoid Tumor NCIT:C6382 Epididymal Adenomatoid Tumor confirmed epididymal adenomatoid tumor NCIT:C6382 NCIT @@ -89747,8 +89747,8 @@ MONDO:0004328 maxillary sinus adenocarcinoma oio:hasExactSynonym maxillary sinu MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia Pancreatic Intraductal Papillary Mucinous Neoplasm with High Grade Dysplasia NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade confirmed pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia NCIT:C41251 NCIT MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia Pancreatic Intraductal Papillary-Mucinous Neoplasm with High Grade Dysplasia NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade confirmed pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia NCIT:C41251 NCIT MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia oio:hasExactSynonym pancreatic non-invasive intraductal papillary-mucinous carcinoma pancreatic non-invasive intraductal papillary-mucinous carcinoma Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma NCIT:C41251 Pancreatic Intraductal Papillary-Mucinous Neoplasm, High Grade confirmed pancreatic non-invasive intraductal papillary-mucinous carcinoma NCIT:C41251 NCIT -MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal Sarcoma NCIT:C8312 Leptomeningeal Sarcoma confirmed leptomeningeal sarcoma NCIT:C8312 NCIT MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal sarcoma NCIT:C8312 Leptomeningeal Sarcoma confirmed leptomeningeal sarcoma NCIT:C8312 NCIT +MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym leptomeningeal sarcoma leptomeningeal sarcoma Leptomeningeal Sarcoma NCIT:C8312 Leptomeningeal Sarcoma confirmed leptomeningeal sarcoma NCIT:C8312 NCIT MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma of leptomeninges sarcoma of leptomeninges Sarcoma of Leptomeninges NCIT:C8312 Leptomeningeal Sarcoma confirmed sarcoma of leptomeninges NCIT:C8312 NCIT MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma of the leptomeninges sarcoma of the leptomeninges Sarcoma of the Leptomeninges NCIT:C8312 Leptomeningeal Sarcoma confirmed sarcoma of the leptomeninges NCIT:C8312 NCIT MONDO:0004330 leptomeningeal sarcoma oio:hasExactSynonym sarcoma, leptomeningeal, malignant sarcoma, leptomeningeal, malignant SARCOMA, LEPTOMENINGEAL, MALIGNANT NCIT:C8312 Leptomeningeal Sarcoma confirmed sarcoma, leptomeningeal, malignant NCIT:C8312 NCIT @@ -89987,8 +89987,8 @@ MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor oio:hasExactSynony MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor oio:hasExactSynonym gastrinoma of duodenum gastrinoma of duodenum Gastrinoma of Duodenum NCIT:C5731 Duodenal Gastrin-Producing Neuroendocrine Tumor confirmed gastrinoma of duodenum NCIT:C5731 NCIT MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor oio:hasExactSynonym gastrinoma of the duodenum gastrinoma of the duodenum Gastrinoma of the Duodenum NCIT:C5731 Duodenal Gastrin-Producing Neuroendocrine Tumor confirmed gastrinoma of the duodenum NCIT:C5731 NCIT MONDO:0004412 malignant spiradenoma oio:hasExactSynonym Spiradenocarcinoma NCIT:C5117 Spiradenocarcinoma confirmed Spiradenocarcinoma NCIT:C5117 NCIT -MONDO:0004412 malignant spiradenoma oio:hasExactSynonym malignant eccrine spiradenoma malignant eccrine spiradenoma Malignant Eccrine Spiradenoma NCIT:C5117 Spiradenocarcinoma confirmed malignant eccrine spiradenoma NCIT:C5117 NCIT MONDO:0004412 malignant spiradenoma oio:hasExactSynonym malignant eccrine spiradenoma malignant eccrine spiradenoma Malignant eccrine spiradenoma NCIT:C5117 Spiradenocarcinoma confirmed malignant eccrine spiradenoma NCIT:C5117 NCIT +MONDO:0004412 malignant spiradenoma oio:hasExactSynonym malignant eccrine spiradenoma malignant eccrine spiradenoma Malignant Eccrine Spiradenoma NCIT:C5117 Spiradenocarcinoma confirmed malignant eccrine spiradenoma NCIT:C5117 NCIT MONDO:0004412 malignant spiradenoma oio:hasExactSynonym malignant spiradenoma malignant spiradenoma Malignant Spiradenoma NCIT:C5117 Spiradenocarcinoma confirmed malignant spiradenoma NCIT:C5117 NCIT MONDO:0004414 tamoxifen-related endometrial lesion oio:hasExactSynonym tamoxifen-related endometrial disorder tamoxifen-related endometrial disorder Tamoxifen-Related Endometrial Disorder NCIT:C40159 Tamoxifen-Related Endometrial Disorder confirmed tamoxifen-related endometrial disorder NCIT:C40159 NCIT MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma oio:hasExactSynonym infiltrating bladder urothelial carcinoma, Lipid-cell variant infiltrating bladder urothelial carcinoma, Lipid-cell variant Infiltrating Bladder Urothelial Carcinoma, Lipid-Cell Variant NCIT:C39828 Invasive Bladder Lipid-Rich Urothelial Carcinoma confirmed infiltrating bladder urothelial carcinoma, Lipid-cell variant NCIT:C39828 NCIT @@ -90024,8 +90024,8 @@ MONDO:0004427 supraglottis neoplasm oio:hasExactSynonym tumor of the supraglott MONDO:0004428 alveoli adenoma oio:hasExactSynonym adenoma of alveoli adenoma of alveoli Adenoma of Alveoli NCIT:C4140 Alveolar Adenoma confirmed adenoma of alveoli NCIT:C4140 NCIT MONDO:0004428 alveoli adenoma oio:hasExactSynonym adenoma of the alveoli adenoma of the alveoli Adenoma of the Alveoli NCIT:C4140 Alveolar Adenoma confirmed adenoma of the alveoli NCIT:C4140 NCIT MONDO:0004428 alveoli adenoma oio:hasExactSynonym adenoma, bronchioloalveolar, benign adenoma, bronchioloalveolar, benign ADENOMA, BRONCHIOLOALVEOLAR, BENIGN NCIT:C4140 Alveolar Adenoma confirmed adenoma, bronchioloalveolar, benign NCIT:C4140 NCIT -MONDO:0004428 alveoli adenoma oio:hasExactSynonym alveolar adenoma alveolar adenoma Alveolar adenoma NCIT:C4140 Alveolar Adenoma confirmed alveolar adenoma NCIT:C4140 NCIT MONDO:0004428 alveoli adenoma oio:hasExactSynonym alveolar adenoma alveolar adenoma Alveolar Adenoma NCIT:C4140 Alveolar Adenoma confirmed alveolar adenoma NCIT:C4140 NCIT +MONDO:0004428 alveoli adenoma oio:hasExactSynonym alveolar adenoma alveolar adenoma Alveolar adenoma NCIT:C4140 Alveolar Adenoma confirmed alveolar adenoma NCIT:C4140 NCIT MONDO:0004430 penis mixed squamous cell carcinoma oio:hasExactSynonym mixed squamous cell carcinoma of the penis mixed squamous cell carcinoma of the penis Mixed Squamous Cell Carcinoma of the Penis NCIT:C39959 Penile Mixed Squamous Cell Carcinoma confirmed mixed squamous cell carcinoma of the penis NCIT:C39959 NCIT MONDO:0004432 mature pericardial teratoma oio:hasExactSynonym mature pericardial teratoma mature pericardial teratoma Mature Pericardial Teratoma NCIT:C6744 Pericardial Mature Teratoma confirmed mature pericardial teratoma NCIT:C6744 NCIT MONDO:0004432 mature pericardial teratoma oio:hasExactSynonym mature teratoma of pericardium mature teratoma of pericardium Mature Teratoma of Pericardium NCIT:C6744 Pericardial Mature Teratoma confirmed mature teratoma of pericardium NCIT:C6744 NCIT @@ -90237,8 +90237,8 @@ MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant neoplasm of MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant tumor of aorta malignant tumor of aorta Malignant Tumor of Aorta NCIT:C5375 Malignant Aortic Neoplasm confirmed malignant tumor of aorta NCIT:C5375 NCIT MONDO:0004539 aortic malignant tumor oio:hasExactSynonym malignant tumor of the aorta malignant tumor of the aorta Malignant Tumor of the Aorta NCIT:C5375 Malignant Aortic Neoplasm confirmed malignant tumor of the aorta NCIT:C5375 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid MPNST epithelioid MPNST Epithelioid MPNST NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed epithelioid MPNST NCIT:C6561 NCIT -MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid Malignant Peripheral Nerve Sheath Tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 NCIT +MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym epithelioid malignant peripheral nerve sheath tumor epithelioid malignant peripheral nerve sheath tumor Epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed epithelioid malignant peripheral nerve sheath tumor NCIT:C6561 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid neoplasm of peripheral nerve sheath malignant epithelioid neoplasm of peripheral nerve sheath Malignant Epithelioid Neoplasm of Peripheral Nerve Sheath NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed malignant epithelioid neoplasm of peripheral nerve sheath NCIT:C6561 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid neoplasm of the peripheral nerve sheath malignant epithelioid neoplasm of the peripheral nerve sheath Malignant Epithelioid Neoplasm of the Peripheral Nerve Sheath NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed malignant epithelioid neoplasm of the peripheral nerve sheath NCIT:C6561 NCIT MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSynonym malignant epithelioid peripheral nerve sheath neoplasm malignant epithelioid peripheral nerve sheath neoplasm Malignant Epithelioid Peripheral Nerve Sheath Neoplasm NCIT:C6561 Epithelioid Malignant Peripheral Nerve Sheath Tumor confirmed malignant epithelioid peripheral nerve sheath neoplasm NCIT:C6561 NCIT @@ -90248,8 +90248,8 @@ MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor oio:hasExactSy MONDO:0004541 pseudoglandular variant testicular seminoma oio:hasExactSynonym testicular seminoma, pseudoglandular variant testicular seminoma, pseudoglandular variant Testicular Seminoma, Pseudoglandular Variant NCIT:C40958 Testicular Seminoma, Pseudoglandular Variant confirmed testicular seminoma, pseudoglandular variant NCIT:C40958 NCIT MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant oio:hasExactSynonym cervical adenosquamous carcinoma, glassy cell variant cervical adenosquamous carcinoma, glassy cell variant Cervical Adenosquamous Carcinoma, Glassy Cell Variant NCIT:C40212 Cervical Poorly Differentiated Adenosquamous Carcinoma confirmed cervical adenosquamous carcinoma, glassy cell variant NCIT:C40212 NCIT MONDO:0004543 enteric pattern testicular yolk sac tumor oio:hasExactSynonym testicular yolk Sac tumor, enteric pattern testicular yolk Sac tumor, enteric pattern Testicular Yolk Sac Tumor, Enteric Pattern NCIT:C39932 Testicular Yolk Sac Tumor, Enteric Pattern confirmed testicular yolk Sac tumor, enteric pattern NCIT:C39932 NCIT -MONDO:0004544 chordoid meningioma oio:hasExactSynonym chordoid meningioma chordoid meningioma Chordoid Meningioma NCIT:C6908 Chordoid Meningioma confirmed chordoid meningioma NCIT:C6908 NCIT MONDO:0004544 chordoid meningioma oio:hasExactSynonym chordoid meningioma chordoid meningioma Chordoid meningioma NCIT:C6908 Chordoid Meningioma confirmed chordoid meningioma NCIT:C6908 NCIT +MONDO:0004544 chordoid meningioma oio:hasExactSynonym chordoid meningioma chordoid meningioma Chordoid Meningioma NCIT:C6908 Chordoid Meningioma confirmed chordoid meningioma NCIT:C6908 NCIT MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym adult MPNST adult MPNST Adult MPNST NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor confirmed adult MPNST NCIT:C7814 NCIT MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym adult malignant neoplasm of peripheral nerve sheath adult malignant neoplasm of peripheral nerve sheath Adult Malignant Neoplasm of Peripheral Nerve Sheath NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor confirmed adult malignant neoplasm of peripheral nerve sheath NCIT:C7814 NCIT MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym adult malignant neoplasm of the peripheral nerve sheath adult malignant neoplasm of the peripheral nerve sheath Adult Malignant Neoplasm of the Peripheral Nerve Sheath NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor confirmed adult malignant neoplasm of the peripheral nerve sheath NCIT:C7814 NCIT @@ -90287,12 +90287,12 @@ MONDO:0004555 kidney angiomyolipoma oio:hasExactSynonym angiomyolipoma of the k MONDO:0004555 kidney angiomyolipoma oio:hasExactSynonym kidney angiomyolipoma kidney angiomyolipoma Kidney Angiomyolipoma NCIT:C3888 Kidney Angiomyolipoma confirmed kidney angiomyolipoma NCIT:C3888 NCIT MONDO:0004555 kidney angiomyolipoma oio:hasExactSynonym renal angiomyolipoma renal angiomyolipoma Renal Angiomyolipoma NCIT:C3888 Kidney Angiomyolipoma confirmed renal angiomyolipoma NCIT:C3888 NCIT MONDO:0004556 carcinoma arising in nasal papillomatosis oio:hasExactSynonym carcinoma arising in nasal papillomatosis carcinoma arising in nasal papillomatosis Carcinoma Arising in Nasal Papillomatosis NCIT:C27389 Carcinoma Arising in Nasal Papillomatosis confirmed carcinoma arising in nasal papillomatosis NCIT:C27389 NCIT -MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym congenital fibrosarcoma congenital fibrosarcoma Congenital Fibrosarcoma NCIT:C4244 Infantile Fibrosarcoma confirmed congenital fibrosarcoma NCIT:C4244 NCIT MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym congenital fibrosarcoma congenital fibrosarcoma Congenital fibrosarcoma NCIT:C4244 Infantile Fibrosarcoma confirmed congenital fibrosarcoma NCIT:C4244 NCIT -MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym infantile fibrosarcoma infantile fibrosarcoma Infantile fibrosarcoma NCIT:C4244 Infantile Fibrosarcoma confirmed infantile fibrosarcoma NCIT:C4244 NCIT +MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym congenital fibrosarcoma congenital fibrosarcoma Congenital Fibrosarcoma NCIT:C4244 Infantile Fibrosarcoma confirmed congenital fibrosarcoma NCIT:C4244 NCIT MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym infantile fibrosarcoma infantile fibrosarcoma Infantile Fibrosarcoma NCIT:C4244 Infantile Fibrosarcoma confirmed infantile fibrosarcoma NCIT:C4244 NCIT -MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym macrofollicular adenoma macrofollicular adenoma Macrofollicular Adenoma NCIT:C4161 Thyroid Gland Macrofollicular Adenoma confirmed macrofollicular adenoma NCIT:C4161 NCIT +MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym infantile fibrosarcoma infantile fibrosarcoma Infantile fibrosarcoma NCIT:C4244 Infantile Fibrosarcoma confirmed infantile fibrosarcoma NCIT:C4244 NCIT MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym macrofollicular adenoma macrofollicular adenoma Macrofollicular adenoma NCIT:C4161 Thyroid Gland Macrofollicular Adenoma confirmed macrofollicular adenoma NCIT:C4161 NCIT +MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym macrofollicular adenoma macrofollicular adenoma Macrofollicular Adenoma NCIT:C4161 Thyroid Gland Macrofollicular Adenoma confirmed macrofollicular adenoma NCIT:C4161 NCIT MONDO:0004559 malignant glandular tumor of peripheral nerve sheath oio:hasExactSynonym glandular MPNST glandular MPNST Glandular MPNST NCIT:C6560 Glandular Malignant Peripheral Nerve Sheath Tumor confirmed glandular MPNST NCIT:C6560 NCIT MONDO:0004559 malignant glandular tumor of peripheral nerve sheath oio:hasExactSynonym glandular malignant peripheral nerve sheath tumor glandular malignant peripheral nerve sheath tumor Glandular Malignant Peripheral Nerve Sheath Tumor NCIT:C6560 Glandular Malignant Peripheral Nerve Sheath Tumor confirmed glandular malignant peripheral nerve sheath tumor NCIT:C6560 NCIT MONDO:0004559 malignant glandular tumor of peripheral nerve sheath oio:hasExactSynonym malignant glandular neoplasm of peripheral nerve sheath malignant glandular neoplasm of peripheral nerve sheath Malignant Glandular Neoplasm of Peripheral Nerve Sheath NCIT:C6560 Glandular Malignant Peripheral Nerve Sheath Tumor confirmed malignant glandular neoplasm of peripheral nerve sheath NCIT:C6560 NCIT @@ -90426,8 +90426,8 @@ MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant neoplasm of buc MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant neoplasm of the buccal mucosa malignant neoplasm of the buccal mucosa Malignant Neoplasm of the Buccal Mucosa NCIT:C9320 Malignant Buccal Mucosa Neoplasm confirmed malignant neoplasm of the buccal mucosa NCIT:C9320 NCIT MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant tumor of buccal mucosa malignant tumor of buccal mucosa Malignant Tumor of Buccal Mucosa NCIT:C9320 Malignant Buccal Mucosa Neoplasm confirmed malignant tumor of buccal mucosa NCIT:C9320 NCIT MONDO:0004645 cheek mucosa cancer oio:hasExactSynonym malignant tumor of the buccal mucosa malignant tumor of the buccal mucosa Malignant Tumor of the Buccal Mucosa NCIT:C9320 Malignant Buccal Mucosa Neoplasm confirmed malignant tumor of the buccal mucosa NCIT:C9320 NCIT -MONDO:0004647 in situ carcinoma oio:hasExactSynonym carcinoma in situ carcinoma in situ Carcinoma in situ NCIT:C2917 Carcinoma In Situ confirmed carcinoma in situ NCIT:C2917 NCIT MONDO:0004647 in situ carcinoma oio:hasExactSynonym carcinoma in situ carcinoma in situ Carcinoma In Situ NCIT:C2917 Carcinoma In Situ confirmed carcinoma in situ NCIT:C2917 NCIT +MONDO:0004647 in situ carcinoma oio:hasExactSynonym carcinoma in situ carcinoma in situ Carcinoma in situ NCIT:C2917 Carcinoma In Situ confirmed carcinoma in situ NCIT:C2917 NCIT MONDO:0004647 in situ carcinoma oio:hasExactSynonym carcinoma, in situ, malignant carcinoma, in situ, malignant CARCINOMA, IN SITU, MALIGNANT NCIT:C2917 Carcinoma In Situ confirmed carcinoma, in situ, malignant NCIT:C2917 NCIT MONDO:0004647 in situ carcinoma oio:hasExactSynonym epithelial tumor, in situ, malignant epithelial tumor, in situ, malignant Epithelial Tumor, In situ, Malignant NCIT:C2917 Carcinoma In Situ confirmed epithelial tumor, in situ, malignant NCIT:C2917 NCIT MONDO:0004647 in situ carcinoma oio:hasExactSynonym intraepithelial carcinoma intraepithelial carcinoma Intraepithelial Carcinoma NCIT:C2917 Carcinoma In Situ confirmed intraepithelial carcinoma NCIT:C2917 NCIT @@ -90441,8 +90441,8 @@ MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactS MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute granulocytic leukemia subacute granulocytic leukemia Subacute granulocytic leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute granulocytic leukemia NCIT:C3519 NCIT MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute Myelogenous Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myelogenous leukemia NCIT:C3519 NCIT MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myelogenous leukemia subacute myelogenous leukemia Subacute myelogenous leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myelogenous leukemia NCIT:C3519 NCIT -MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute Myeloid Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myeloid leukemia NCIT:C3519 NCIT MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute myeloid leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myeloid leukemia NCIT:C3519 NCIT +MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym subacute myeloid leukemia subacute myeloid leukemia Subacute Myeloid Leukemia NCIT:C3519 Atypical Chronic Myeloid Leukemia confirmed subacute myeloid leukemia NCIT:C3519 NCIT MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative oio:hasExactSynonym aCML NCIT:C3519 Atypical Chronic Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed aCML NCIT:C3519 NCIT MONDO:0004656 rubella oio:hasExactSynonym Rubella infection Rubella infection Rubella Infection NCIT:C85051 Rubella Infection confirmed Rubella infection NCIT:C85051 NCIT MONDO:0004656 rubella oio:hasExactSynonym german measles german measles German Measles NCIT:C85051 Rubella Infection confirmed german measles NCIT:C85051 NCIT @@ -90540,20 +90540,20 @@ MONDO:0004684 plantar fibromatosis oio:hasExactSynonym Ledderhose's disease Led MONDO:0004684 plantar fibromatosis oio:hasExactSynonym plantar fibromatosis plantar fibromatosis Plantar Fibromatosis NCIT:C4680 Plantar Fibromatosis confirmed plantar fibromatosis NCIT:C4680 NCIT MONDO:0004691 autosomal dominant polycystic kidney disease oio:hasExactSynonym autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease Autosomal Dominant Polycystic Kidney Disease NCIT:C84578 Autosomal Dominant Polycystic Kidney Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed autosomal dominant polycystic kidney disease NCIT:C84578 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym carcinoma, squamous cell, in situ, malignant carcinoma, squamous cell, in situ, malignant CARCINOMA, SQUAMOUS CELL, IN SITU, MALIGNANT NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed carcinoma, squamous cell, in situ, malignant NCIT:C27093 NCIT -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid carcinoma in situ NCIT:C27093 NCIT -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid cell carcinoma in situ epidermoid cell carcinoma in situ Epidermoid Cell Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid cell carcinoma in situ NCIT:C27093 NCIT +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid carcinoma in situ epidermoid carcinoma in situ Epidermoid Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid cell carcinoma in situ epidermoid cell carcinoma in situ Epidermoid Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid cell carcinoma in situ NCIT:C27093 NCIT +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym epidermoid cell carcinoma in situ epidermoid cell carcinoma in situ Epidermoid Cell Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed epidermoid cell carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade 3 SIN grade 3 SIN Grade 3 SIN NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed grade 3 SIN NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade 3 squamous intraepithelial neoplasia grade 3 squamous intraepithelial neoplasia Grade 3 Squamous Intraepithelial Neoplasia NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed grade 3 squamous intraepithelial neoplasia NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade III SIN grade III SIN Grade III SIN NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed grade III SIN NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym grade III squamous intraepithelial neoplasia grade III squamous intraepithelial neoplasia Grade III Squamous Intraepithelial Neoplasia NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed grade III squamous intraepithelial neoplasia NCIT:C27093 NCIT -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym intraepithelial squamous cell carcinoma intraepithelial squamous cell carcinoma Intraepithelial Squamous Cell Carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed intraepithelial squamous cell carcinoma NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym intraepithelial squamous cell carcinoma intraepithelial squamous cell carcinoma Intraepithelial squamous cell carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed intraepithelial squamous cell carcinoma NCIT:C27093 NCIT -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous carcinoma in situ NCIT:C27093 NCIT +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym intraepithelial squamous cell carcinoma intraepithelial squamous cell carcinoma Intraepithelial Squamous Cell Carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed intraepithelial squamous cell carcinoma NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous carcinoma in situ NCIT:C27093 NCIT -MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous cell carcinoma in situ NCIT:C27093 NCIT +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous carcinoma in situ squamous carcinoma in situ Squamous Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma In situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous cell carcinoma in situ NCIT:C27093 NCIT +MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in situ squamous cell carcinoma in situ Squamous Cell Carcinoma in situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous cell carcinoma in situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym squamous cell carcinoma in-situ squamous cell carcinoma in-situ Squamous Cell Carcinoma in-situ NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed squamous cell carcinoma in-situ NCIT:C27093 NCIT MONDO:0004693 squamous carcinoma in situ oio:hasExactSynonym stage 0 squamous cell carcinoma stage 0 squamous cell carcinoma Stage 0 Squamous Cell Carcinoma NCIT:C27093 Stage 0 Squamous Cell Carcinoma confirmed stage 0 squamous cell carcinoma NCIT:C27093 NCIT MONDO:0004695 liver lymphoma oio:hasExactSynonym hepatic lymphoma hepatic lymphoma Hepatic Lymphoma NCIT:C4949 Liver Lymphoma confirmed hepatic lymphoma NCIT:C4949 NCIT @@ -90768,9 +90768,9 @@ MONDO:0004767 vesiculitis oio:hasExactSynonym seminal vesicles seminal vesicles MONDO:0004770 exophthalmos oio:hasExactSynonym exophthalmos exophthalmos Exophthalmos NCIT:C118763 Exophthalmos confirmed exophthalmos NCIT:C118763 NCIT MONDO:0004773 iridocyclitis oio:hasExactSynonym iridocyclitis iridocyclitis Iridocyclitis NCIT:C34736 Iridocyclitis confirmed iridocyclitis NCIT:C34736 NCIT MONDO:0004779 epididymitis oio:hasExactSynonym epididymal epididymal Epididymal NCIT:C12328 Epididymis confirmed epididymal NCIT:C12328 NCIT -MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis EPIDIDYMIS NCIT:C12328 Epididymis confirmed epididymis NCIT:C12328 NCIT MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis Epididymis NCIT:C12328 Epididymis confirmed epididymis NCIT:C12328 NCIT MONDO:0004779 epididymitis oio:hasExactSynonym epididymis NCIT:C12328 Epididymis confirmed epididymis NCIT:C12328 NCIT +MONDO:0004779 epididymitis oio:hasExactSynonym epididymis epididymis EPIDIDYMIS NCIT:C12328 Epididymis confirmed epididymis NCIT:C12328 NCIT MONDO:0004787 cervical mullerian papilloma oio:hasExactSynonym cervical Mullerian papilloma cervical Mullerian papilloma Cervical Mullerian Papilloma NCIT:C40215 Cervical Mullerian Papilloma confirmed cervical Mullerian papilloma NCIT:C40215 NCIT MONDO:0004787 cervical mullerian papilloma oio:hasExactSynonym cervical Müllerian papilloma cervical Müllerian papilloma Cervical Müllerian Papilloma NCIT:C40215 Cervical Mullerian Papilloma confirmed cervical Müllerian papilloma NCIT:C40215 NCIT MONDO:0004788 cervix squamous papilloma oio:hasExactSynonym cervical squamous papilloma cervical squamous papilloma Cervical Squamous Papilloma NCIT:C6342 Cervical Squamous Papilloma confirmed cervical squamous papilloma NCIT:C6342 NCIT @@ -90805,8 +90805,8 @@ MONDO:0004827 esophagus squamous cell papilloma oio:hasExactSynonym esophagus s MONDO:0004827 esophagus squamous cell papilloma oio:hasExactSynonym squamous cell papilloma of esophagus squamous cell papilloma of esophagus Squamous Cell Papilloma of Esophagus NCIT:C5344 Esophageal Squamous Papilloma confirmed squamous cell papilloma of esophagus NCIT:C5344 NCIT MONDO:0004827 esophagus squamous cell papilloma oio:hasExactSynonym squamous cell papilloma of the esophagus squamous cell papilloma of the esophagus Squamous Cell Papilloma of the Esophagus NCIT:C5344 Esophageal Squamous Papilloma confirmed squamous cell papilloma of the esophagus NCIT:C5344 NCIT MONDO:0004829 Krukenberg carcinoma oio:hasExactSynonym Krukenberg neoplasm Krukenberg neoplasm Krukenberg Neoplasm NCIT:C3153 Krukenberg Tumor confirmed Krukenberg neoplasm NCIT:C3153 NCIT -MONDO:0004829 Krukenberg carcinoma oio:hasExactSynonym Krukenberg tumor Krukenberg tumor Krukenberg Tumor NCIT:C3153 Krukenberg Tumor confirmed Krukenberg tumor NCIT:C3153 NCIT MONDO:0004829 Krukenberg carcinoma oio:hasExactSynonym Krukenberg tumor NCIT:C3153 Krukenberg Tumor confirmed Krukenberg tumor NCIT:C3153 NCIT +MONDO:0004829 Krukenberg carcinoma oio:hasExactSynonym Krukenberg tumor Krukenberg tumor Krukenberg Tumor NCIT:C3153 Krukenberg Tumor confirmed Krukenberg tumor NCIT:C3153 NCIT MONDO:0004830 fasciitis oio:hasExactSynonym Fascitis NCIT:C50559 Fasciitis confirmed Fascitis NCIT:C50559 NCIT MONDO:0004830 fasciitis oio:hasExactSynonym fasciitis fasciitis Fasciitis NCIT:C50559 Fasciitis confirmed fasciitis NCIT:C50559 NCIT MONDO:0004832 esophagus leiomyoma oio:hasExactSynonym esophageal leiomyoma esophageal leiomyoma Esophageal Leiomyoma NCIT:C3866 Esophageal Leiomyoma confirmed esophageal leiomyoma NCIT:C3866 NCIT @@ -90914,10 +90914,10 @@ MONDO:0004956 metastatic prostate carcinoma oio:hasExactSynonym prostate carcin MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym adenocarcinoma, mucinous, malignant adenocarcinoma, mucinous, malignant ADENOCARCINOMA, MUCINOUS, MALIGNANT NCIT:C26712 Mucinous Adenocarcinoma confirmed adenocarcinoma, mucinous, malignant NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid adenocarcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid adenocarcinoma colloid adenocarcinoma Colloid adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid adenocarcinoma NCIT:C26712 NCIT -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid carcinoma colloid carcinoma Colloid Carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid carcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid carcinoma colloid carcinoma Colloid carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid carcinoma NCIT:C26712 NCIT -MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous adenocarcinoma NCIT:C26712 NCIT +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym colloid carcinoma colloid carcinoma Colloid Carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed colloid carcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous adenocarcinoma NCIT:C26712 NCIT +MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous adenocarcinoma gelatinous adenocarcinoma Gelatinous Adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous adenocarcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous carcinoma gelatinous carcinoma Gelatinous carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous carcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym gelatinous carcinoma gelatinous carcinoma Gelatinous Carcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed gelatinous carcinoma NCIT:C26712 NCIT MONDO:0004957 mucinous adenocarcinoma oio:hasExactSynonym mucinous adenocarcinoma mucinous adenocarcinoma Mucinous adenocarcinoma NCIT:C26712 Mucinous Adenocarcinoma confirmed mucinous adenocarcinoma NCIT:C26712 NCIT @@ -90947,8 +90947,8 @@ MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym squamous MONDO:0004958 oral cavity squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of the oral cavity squamous cell carcinoma of the oral cavity Squamous Cell Carcinoma of the Oral Cavity NCIT:C4833 Oral Cavity Squamous Cell Carcinoma confirmed squamous cell carcinoma of the oral cavity NCIT:C4833 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell dyscrasia plasma cell dyscrasia Plasma Cell Dyscrasia NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell dyscrasia NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell neoplasm plasma cell neoplasm Plasma Cell Neoplasm NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell neoplasm NCIT:C4665 NCIT -MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma cell tumor NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell tumor NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma Cell Tumor NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell tumor NCIT:C4665 NCIT +MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor plasma cell tumor Plasma cell tumor NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell tumor NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasma cell tumor, malignant plasma cell tumor, malignant PLASMA CELL TUMOR, MALIGNANT NCIT:C4665 Plasma Cell Neoplasm confirmed plasma cell tumor, malignant NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasmacytic neoplasm plasmacytic neoplasm Plasmacytic Neoplasm NCIT:C4665 Plasma Cell Neoplasm confirmed plasmacytic neoplasm NCIT:C4665 NCIT MONDO:0004959 plasma cell neoplasm oio:hasExactSynonym plasmacytic tumor plasmacytic tumor Plasmacytic Tumor NCIT:C4665 Plasma Cell Neoplasm confirmed plasmacytic tumor NCIT:C4665 NCIT @@ -90965,10 +90965,10 @@ MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym acute T-c MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym precursor T-lymphoblastic leukemia precursor T-lymphoblastic leukemia Precursor T-Lymphoblastic Leukemia NCIT:C3183 T Acute Lymphoblastic Leukemia confirmed precursor T-lymphoblastic leukemia NCIT:C3183 NCIT MONDO:0004963 T-cell acute lymphoblastic leukemia oio:hasExactSynonym T-ALL NCIT:C3183 T Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed T-ALL NCIT:C3183 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified oio:hasExactSynonym peripheral T-cell lymphoma, not otherwise specified peripheral T-cell lymphoma, not otherwise specified Peripheral T-Cell Lymphoma, Not Otherwise Specified NCIT:C4340 Peripheral T-Cell Lymphoma, Not Otherwise Specified confirmed peripheral T-cell lymphoma, not otherwise specified NCIT:C4340 NCIT -MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar adenocarcinoma acinar adenocarcinoma Acinar Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar adenocarcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar adenocarcinoma acinar adenocarcinoma Acinar adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar adenocarcinoma NCIT:C3768 NCIT -MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar carcinoma NCIT:C3768 NCIT +MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar adenocarcinoma acinar adenocarcinoma Acinar Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar adenocarcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar Carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar carcinoma NCIT:C3768 NCIT +MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar carcinoma acinar carcinoma Acinar carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar carcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell adenocarcinoma acinar cell adenocarcinoma Acinar Cell Adenocarcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar cell adenocarcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar cell carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar cell carcinoma NCIT:C3768 NCIT MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym acinar cell carcinoma acinar cell carcinoma Acinar Cell Carcinoma NCIT:C3768 Acinar Cell Carcinoma confirmed acinar cell carcinoma NCIT:C3768 NCIT @@ -90979,10 +90979,10 @@ MONDO:0004965 acinar cell carcinoma oio:hasExactSynonym carcinoma, acinar cell, MONDO:0004966 gastritis oio:hasExactSynonym gastritis gastritis Gastritis NCIT:C26780 Gastritis confirmed gastritis NCIT:C26780 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym ALL - acute lymphocytic leukemia ALL - acute lymphocytic leukemia ALL - Acute Lymphocytic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed ALL - acute lymphocytic leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia acute lymphoblastic leukemia Acute Lymphoblastic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia NCIT:C3167 NCIT -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute lymphoblastic leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT -MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemia acute lymphocytic leukemia Acute lymphocytic leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphocytic leukemia NCIT:C3167 NCIT +MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (ALL) Acute Lymphoblastic Leukemia (ALL) NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoblastic leukemia (ALL) NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemia acute lymphocytic leukemia Acute Lymphocytic Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphocytic leukemia NCIT:C3167 NCIT +MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemia acute lymphocytic leukemia Acute lymphocytic leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphocytic leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocytic leukemias acute lymphocytic leukemias Acute Lymphocytic Leukemias NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphocytic leukemias NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphogenous leukemia acute lymphogenous leukemia Acute Lymphogenous Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphogenous leukemia NCIT:C3167 NCIT MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphoid leukemia acute lymphoid leukemia Acute Lymphoid Leukemia NCIT:C3167 Acute Lymphoblastic Leukemia confirmed acute lymphoid leukemia NCIT:C3167 NCIT @@ -90995,8 +90995,8 @@ MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym acute lymphocyti MONDO:0004967 acute lymphoblastic leukemia oio:hasExactSynonym ALL NCIT:C3167 Acute Lymphoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ALL NCIT:C3167 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma adenocarcinoma Adenocarcinoma NCIT:C2852 Adenocarcinoma confirmed adenocarcinoma NCIT:C2852 NCIT MONDO:0004970 adenocarcinoma oio:hasExactSynonym adenocarcinoma, malignant adenocarcinoma, malignant ADENOCARCINOMA, MALIGNANT NCIT:C2852 Adenocarcinoma confirmed adenocarcinoma, malignant NCIT:C2852 NCIT -MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenocystic carcinoma NCIT:C2970 NCIT MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenocystic carcinoma NCIT:C2970 NCIT +MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenocystic carcinoma adenocystic carcinoma Adenocystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenocystic carcinoma NCIT:C2970 NCIT MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid Cystic Carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenoid cystic carcinoma NCIT:C2970 NCIT MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma adenoid cystic carcinoma Adenoid cystic carcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed adenoid cystic carcinoma NCIT:C2970 NCIT MONDO:0004971 adenoid cystic carcinoma oio:hasExactSynonym cylindroid adenocarcinoma cylindroid adenocarcinoma Cylindroid Adenocarcinoma NCIT:C2970 Adenoid Cystic Carcinoma confirmed cylindroid adenocarcinoma NCIT:C2970 NCIT @@ -91010,8 +91010,8 @@ MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal gland MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal gland chromaffin paraganglioma adrenal gland chromaffin paraganglioma Adrenal Gland Chromaffin Paraganglioma NCIT:C3326 Adrenal Gland Pheochromocytoma confirmed adrenal gland chromaffin paraganglioma NCIT:C3326 NCIT MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal gland paraganglioma adrenal gland paraganglioma Adrenal Gland Paraganglioma NCIT:C3326 Adrenal Gland Pheochromocytoma confirmed adrenal gland paraganglioma NCIT:C3326 NCIT MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal gland pheochromocytoma adrenal gland pheochromocytoma Adrenal Gland Pheochromocytoma NCIT:C3326 Adrenal Gland Pheochromocytoma confirmed adrenal gland pheochromocytoma NCIT:C3326 NCIT -MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal medullary paraganglioma adrenal medullary paraganglioma Adrenal Medullary Paraganglioma NCIT:C3326 Adrenal Gland Pheochromocytoma confirmed adrenal medullary paraganglioma NCIT:C3326 NCIT MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal medullary paraganglioma adrenal medullary paraganglioma Adrenal medullary paraganglioma NCIT:C3326 Adrenal Gland Pheochromocytoma confirmed adrenal medullary paraganglioma NCIT:C3326 NCIT +MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal medullary paraganglioma adrenal medullary paraganglioma Adrenal Medullary Paraganglioma NCIT:C3326 Adrenal Gland Pheochromocytoma confirmed adrenal medullary paraganglioma NCIT:C3326 NCIT MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal medullary pheochromocytoma adrenal medullary pheochromocytoma Adrenal Medullary Pheochromocytoma NCIT:C3326 Adrenal Gland Pheochromocytoma confirmed adrenal medullary pheochromocytoma NCIT:C3326 NCIT MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym adrenal pheochromocytoma adrenal pheochromocytoma Adrenal Pheochromocytoma NCIT:C3326 Adrenal Gland Pheochromocytoma confirmed adrenal pheochromocytoma NCIT:C3326 NCIT MONDO:0004974 adrenal gland pheochromocytoma oio:hasExactSynonym chromaffin paraganglioma of the adrenal gland chromaffin paraganglioma of the adrenal gland Chromaffin Paraganglioma of the Adrenal Gland NCIT:C3326 Adrenal Gland Pheochromocytoma confirmed chromaffin paraganglioma of the adrenal gland NCIT:C3326 NCIT @@ -91090,8 +91090,8 @@ MONDO:0004992 cancer oio:hasExactSynonym malignant growth malignant growth Mali MONDO:0004992 cancer oio:hasExactSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C9305 Malignant Neoplasm confirmed malignant neoplasm NCIT:C9305 NCIT MONDO:0004992 cancer oio:hasExactSynonym malignant neoplastic disease malignant neoplastic disease Malignant Neoplastic Disease NCIT:C9305 Malignant Neoplasm confirmed malignant neoplastic disease NCIT:C9305 NCIT MONDO:0004992 cancer oio:hasExactSynonym malignant tumor malignant tumor Malignant Tumor NCIT:C9305 Malignant Neoplasm confirmed malignant tumor NCIT:C9305 NCIT -MONDO:0004992 cancer oio:hasExactSynonym neoplasm, malignant neoplasm, malignant Neoplasm, malignant NCIT:C9305 Malignant Neoplasm confirmed neoplasm, malignant NCIT:C9305 NCIT MONDO:0004992 cancer oio:hasExactSynonym neoplasm, malignant neoplasm, malignant NEOPLASM, MALIGNANT NCIT:C9305 Malignant Neoplasm confirmed neoplasm, malignant NCIT:C9305 NCIT +MONDO:0004992 cancer oio:hasExactSynonym neoplasm, malignant neoplasm, malignant Neoplasm, malignant NCIT:C9305 Malignant Neoplasm confirmed neoplasm, malignant NCIT:C9305 NCIT MONDO:0004992 cancer oio:hasExactSynonym CA NCIT:C9305 Malignant Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CA NCIT:C9305 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0004993 carcinoma oio:hasExactSynonym Other carcinoma Other carcinoma Other Carcinoma NCIT:C2916 Carcinoma confirmed Other carcinoma NCIT:C2916 NCIT MONDO:0004993 carcinoma oio:hasExactSynonym carcinoma carcinoma Carcinoma NCIT:C2916 Carcinoma confirmed carcinoma NCIT:C2916 NCIT @@ -91101,8 +91101,8 @@ MONDO:0004993 carcinoma oio:hasExactSynonym epithelioma malignant epithelioma m MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelial neoplasm malignant epithelial neoplasm Malignant Epithelial Neoplasm NCIT:C2916 Carcinoma confirmed malignant epithelial neoplasm NCIT:C2916 NCIT MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelial tumor malignant epithelial tumor Malignant Epithelial Tumor NCIT:C2916 Carcinoma confirmed malignant epithelial tumor NCIT:C2916 NCIT MONDO:0004993 carcinoma oio:hasExactSynonym malignant epithelioma malignant epithelioma Malignant Epithelioma NCIT:C2916 Carcinoma confirmed malignant epithelioma NCIT:C2916 NCIT -MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy CARDIOMYOPATHY NCIT:C34830 Cardiomyopathy confirmed cardiomyopathy NCIT:C34830 NCIT MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy Cardiomyopathy NCIT:C34830 Cardiomyopathy confirmed cardiomyopathy NCIT:C34830 NCIT +MONDO:0004994 cardiomyopathy oio:hasExactSynonym cardiomyopathy cardiomyopathy CARDIOMYOPATHY NCIT:C34830 Cardiomyopathy confirmed cardiomyopathy NCIT:C34830 NCIT MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disease cardiovascular disease Cardiovascular Disease NCIT:C2931 Cardiovascular Disorder confirmed cardiovascular disease NCIT:C2931 NCIT MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disease (CVD) cardiovascular disease (CVD) Cardiovascular Disease (CVD) NCIT:C2931 Cardiovascular Disorder confirmed cardiovascular disease (CVD) NCIT:C2931 NCIT MONDO:0004995 cardiovascular disorder oio:hasExactSynonym cardiovascular disorder cardiovascular disorder Cardiovascular Disorder NCIT:C2931 Cardiovascular Disorder confirmed cardiovascular disorder NCIT:C2931 NCIT @@ -91139,13 +91139,13 @@ MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym kidney clear cell MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym kidney clear cell carcinoma kidney clear cell carcinoma Kidney Clear Cell Carcinoma NCIT:C4033 Clear Cell Renal Cell Carcinoma confirmed kidney clear cell carcinoma NCIT:C4033 NCIT MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym renal clear cell adenocarcinoma renal clear cell adenocarcinoma Renal Clear Cell Adenocarcinoma NCIT:C4033 Clear Cell Renal Cell Carcinoma confirmed renal clear cell adenocarcinoma NCIT:C4033 NCIT MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym renal clear cell carcinoma renal clear cell carcinoma Renal Clear Cell Carcinoma NCIT:C4033 Clear Cell Renal Cell Carcinoma confirmed renal clear cell carcinoma NCIT:C4033 NCIT -MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym Grawitz tumor NCIT:C4033 Clear Cell Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Grawitz tumor NCIT:C4033 NCIT MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym Grawitz tumor Grawitz tumor Grawitz Tumor NCIT:C4033 Clear Cell Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Grawitz tumor NCIT:C4033 NCIT +MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym Grawitz tumor NCIT:C4033 Clear Cell Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Grawitz tumor NCIT:C4033 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood clear cell sarcoma of the kidney childhood clear cell sarcoma of the kidney Childhood Clear Cell Sarcoma of the Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed childhood clear cell sarcoma of the kidney NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood kidney clear cell sarcoma childhood kidney clear cell sarcoma Childhood Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed childhood kidney clear cell sarcoma NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym childhood renal clear cell sarcoma childhood renal clear cell sarcoma Childhood Renal Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed childhood renal clear cell sarcoma NCIT:C4264 NCIT -MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear cell sarcoma of kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed clear cell sarcoma of kidney NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear Cell Sarcoma of Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed clear cell sarcoma of kidney NCIT:C4264 NCIT +MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of kidney clear cell sarcoma of kidney Clear cell sarcoma of kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed clear cell sarcoma of kidney NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym clear cell sarcoma of the kidney clear cell sarcoma of the kidney Clear Cell Sarcoma of the Kidney NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed clear cell sarcoma of the kidney NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym kidney clear cell sarcoma kidney clear cell sarcoma Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed kidney clear cell sarcoma NCIT:C4264 NCIT MONDO:0005006 clear cell sarcoma of kidney oio:hasExactSynonym pediatric kidney clear cell sarcoma pediatric kidney clear cell sarcoma Pediatric Kidney Clear Cell Sarcoma NCIT:C4264 Clear Cell Sarcoma of the Kidney confirmed pediatric kidney clear cell sarcoma NCIT:C4264 NCIT @@ -91193,8 +91193,8 @@ MONDO:0005012 cutaneous melanoma oio:hasExactSynonym melanoma of skin melanoma MONDO:0005012 cutaneous melanoma oio:hasExactSynonym melanoma of the skin melanoma of the skin Melanoma of the Skin NCIT:C3510 Cutaneous Melanoma confirmed melanoma of the skin NCIT:C3510 NCIT MONDO:0005012 cutaneous melanoma oio:hasExactSynonym skin melanoma skin melanoma Skin Melanoma NCIT:C3510 Cutaneous Melanoma confirmed skin melanoma NCIT:C3510 NCIT MONDO:0005012 cutaneous melanoma oio:hasExactSynonym skin, melanoma skin, melanoma Skin, Melanoma NCIT:C3510 Cutaneous Melanoma confirmed skin, melanoma NCIT:C3510 NCIT -MONDO:0005013 dedifferentiated chondrosarcoma oio:hasExactSynonym Dedifferentiated chondrosarcoma NCIT:C6476 Dedifferentiated Chondrosarcoma confirmed Dedifferentiated chondrosarcoma NCIT:C6476 NCIT MONDO:0005013 dedifferentiated chondrosarcoma oio:hasExactSynonym Dedifferentiated chondrosarcoma Dedifferentiated chondrosarcoma Dedifferentiated Chondrosarcoma NCIT:C6476 Dedifferentiated Chondrosarcoma confirmed Dedifferentiated chondrosarcoma NCIT:C6476 NCIT +MONDO:0005013 dedifferentiated chondrosarcoma oio:hasExactSynonym Dedifferentiated chondrosarcoma NCIT:C6476 Dedifferentiated Chondrosarcoma confirmed Dedifferentiated chondrosarcoma NCIT:C6476 NCIT MONDO:0005015 diabetes mellitus oio:hasExactSynonym diabetes diabetes Diabetes NCIT:C2985 Diabetes Mellitus confirmed diabetes NCIT:C2985 NCIT MONDO:0005015 diabetes mellitus oio:hasExactSynonym diabetes mellitus diabetes mellitus Diabetes mellitus NCIT:C2985 Diabetes Mellitus confirmed diabetes mellitus NCIT:C2985 NCIT MONDO:0005015 diabetes mellitus oio:hasExactSynonym diabetes mellitus diabetes mellitus Diabetes Mellitus NCIT:C2985 Diabetes Mellitus confirmed diabetes mellitus NCIT:C2985 NCIT @@ -91241,8 +91241,8 @@ MONDO:0005023 ductal breast carcinoma in situ oio:hasExactSynonym non-invasive MONDO:0005023 ductal breast carcinoma in situ oio:hasExactSynonym DCIS NCIT:C2924 Breast Ductal Carcinoma In Situ http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DCIS NCIT:C2924 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005025 endocarditis oio:hasExactSynonym endocarditis endocarditis Endocarditis NCIT:C34582 Endocarditis confirmed endocarditis NCIT:C34582 NCIT MONDO:0005026 endometrioid adenocarcinoma oio:hasExactSynonym endometrioid adenocarcinoma endometrioid adenocarcinoma Endometrioid Adenocarcinoma NCIT:C3769 Endometrioid Adenocarcinoma confirmed endometrioid adenocarcinoma NCIT:C3769 NCIT -MONDO:0005026 endometrioid adenocarcinoma oio:hasExactSynonym endometrioid carcinoma endometrioid carcinoma Endometrioid Carcinoma NCIT:C3769 Endometrioid Adenocarcinoma confirmed endometrioid carcinoma NCIT:C3769 NCIT MONDO:0005026 endometrioid adenocarcinoma oio:hasExactSynonym endometrioid carcinoma endometrioid carcinoma Endometrioid carcinoma NCIT:C3769 Endometrioid Adenocarcinoma confirmed endometrioid carcinoma NCIT:C3769 NCIT +MONDO:0005026 endometrioid adenocarcinoma oio:hasExactSynonym endometrioid carcinoma endometrioid carcinoma Endometrioid Carcinoma NCIT:C3769 Endometrioid Adenocarcinoma confirmed endometrioid carcinoma NCIT:C3769 NCIT MONDO:0005027 epilepsy oio:hasExactSynonym seizure disorder seizure disorder Seizure Disorder NCIT:C3020 Seizure Disorder confirmed seizure disorder NCIT:C3020 NCIT MONDO:0005027 epilepsy oio:hasExactSynonym epilepsy epilepsy Epilepsy NCIT:C3020 Seizure Disorder http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed epilepsy NCIT:C3020 NCIT MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym adenocarcinoma of esophagus adenocarcinoma of esophagus Adenocarcinoma of Esophagus NCIT:C4025 Esophageal Adenocarcinoma confirmed adenocarcinoma of esophagus NCIT:C4025 NCIT @@ -91250,8 +91250,8 @@ MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym adenocarcinoma of t MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym esophageal adenocarcinoma esophageal adenocarcinoma Esophageal Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma confirmed esophageal adenocarcinoma NCIT:C4025 NCIT MONDO:0005028 esophageal adenocarcinoma oio:hasExactSynonym esophagus adenocarcinoma esophagus adenocarcinoma Esophagus Adenocarcinoma NCIT:C4025 Esophageal Adenocarcinoma confirmed esophagus adenocarcinoma NCIT:C4025 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocytemia essential thrombocytemia Essential Thrombocytemia NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocytemia NCIT:C3407 NCIT -MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential Thrombocythemia NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential thrombocythemia NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocythemia NCIT:C3407 NCIT +MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocythemia essential thrombocythemia Essential Thrombocythemia NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym essential thrombocytosis essential thrombocytosis Essential Thrombocytosis NCIT:C3407 Essential Thrombocythemia confirmed essential thrombocytosis NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym primary thrombocythemia primary thrombocythemia Primary Thrombocythemia NCIT:C3407 Essential Thrombocythemia confirmed primary thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym primary thrombocytosis primary thrombocytosis Primary Thrombocytosis NCIT:C3407 Essential Thrombocythemia confirmed primary thrombocytosis NCIT:C3407 NCIT @@ -91269,8 +91269,8 @@ MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of the thy MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of thyroid adenoma of thyroid Adenoma of Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed adenoma of thyroid NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma of thyroid gland adenoma of thyroid gland Adenoma of Thyroid Gland NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed adenoma of thyroid gland NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym adenoma, follicular cell, benign adenoma, follicular cell, benign ADENOMA, FOLLICULAR CELL, BENIGN NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed adenoma, follicular cell, benign NCIT:C3502 NCIT -MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular Adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma NCIT:C3502 NCIT +MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma follicular adenoma Follicular adenoma NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of the thyroid follicular adenoma of the thyroid Follicular Adenoma of the Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma of the thyroid NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of the thyroid gland follicular adenoma of the thyroid gland Follicular Adenoma of the Thyroid Gland NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma of the thyroid gland NCIT:C3502 NCIT MONDO:0005032 follicular thyroid adenoma oio:hasExactSynonym follicular adenoma of thyroid follicular adenoma of thyroid Follicular Adenoma of Thyroid NCIT:C3502 Thyroid Gland Follicular Adenoma confirmed follicular adenoma of thyroid NCIT:C3502 NCIT @@ -91294,8 +91294,8 @@ MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym follicular MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym follicular thyroid gland carcinoma follicular thyroid gland carcinoma Follicular Thyroid Gland Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma confirmed follicular thyroid gland carcinoma NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym thyroid follicular carcinoma thyroid follicular carcinoma Thyroid Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma confirmed thyroid follicular carcinoma NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym thyroid gland follicular carcinoma thyroid gland follicular carcinoma Thyroid Gland Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma confirmed thyroid gland follicular carcinoma NCIT:C8054 NCIT -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym well-differentiated follicular adenocarcinoma well-differentiated follicular adenocarcinoma Well-differentiated Follicular Adenocarcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma confirmed well-differentiated follicular adenocarcinoma NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym well-differentiated follicular adenocarcinoma well-differentiated follicular adenocarcinoma Well-Differentiated Follicular Adenocarcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma confirmed well-differentiated follicular adenocarcinoma NCIT:C8054 NCIT +MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym well-differentiated follicular adenocarcinoma well-differentiated follicular adenocarcinoma Well-differentiated Follicular Adenocarcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma confirmed well-differentiated follicular adenocarcinoma NCIT:C8054 NCIT MONDO:0005035 ganglioneuroblastoma oio:hasExactSynonym ganglioneuroblastoma ganglioneuroblastoma Ganglioneuroblastoma NCIT:C3790 Ganglioneuroblastoma confirmed ganglioneuroblastoma NCIT:C3790 NCIT MONDO:0005035 ganglioneuroblastoma oio:hasExactSynonym ganglioneuroblastoma, malignant ganglioneuroblastoma, malignant GANGLIONEUROBLASTOMA, MALIGNANT NCIT:C3790 Ganglioneuroblastoma confirmed ganglioneuroblastoma, malignant NCIT:C3790 NCIT MONDO:0005036 gastric adenocarcinoma oio:hasExactSynonym adenocarcinoma of stomach adenocarcinoma of stomach Adenocarcinoma of Stomach NCIT:C4004 Gastric Adenocarcinoma confirmed adenocarcinoma of stomach NCIT:C4004 NCIT @@ -91320,8 +91320,8 @@ MONDO:0005040 germ cell tumor oio:hasExactSynonym neoplasm of the germ cell neo MONDO:0005040 germ cell tumor oio:hasExactSynonym tumor of germ cell tumor of germ cell Tumor of Germ Cell NCIT:C3708 Germ Cell Tumor confirmed tumor of germ cell NCIT:C3708 NCIT MONDO:0005040 germ cell tumor oio:hasExactSynonym tumor of the germ cell tumor of the germ cell Tumor of the Germ Cell NCIT:C3708 Germ Cell Tumor confirmed tumor of the germ cell NCIT:C3708 NCIT MONDO:0005041 glaucoma oio:hasExactSynonym glaucoma glaucoma Glaucoma NCIT:C26782 Glaucoma confirmed glaucoma NCIT:C26782 NCIT -MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplasia hyperplasia Hyperplasia NCIT:C3113 Hyperplasia confirmed hyperplasia NCIT:C3113 NCIT MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplasia hyperplasia HYPERPLASIA NCIT:C3113 Hyperplasia confirmed hyperplasia NCIT:C3113 NCIT +MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplasia hyperplasia Hyperplasia NCIT:C3113 Hyperplasia confirmed hyperplasia NCIT:C3113 NCIT MONDO:0005043 hyperplasia oio:hasExactSynonym hyperplastic hyperplastic Hyperplastic NCIT:C3113 Hyperplasia confirmed hyperplastic NCIT:C3113 NCIT MONDO:0005044 hypertensive disorder oio:hasExactSynonym high blood pressure high blood pressure High blood pressure NCIT:C3117 Hypertension confirmed high blood pressure NCIT:C3117 NCIT MONDO:0005044 hypertensive disorder oio:hasExactSynonym high blood pressure high blood pressure High Blood Pressure NCIT:C3117 Hypertension confirmed high blood pressure NCIT:C3117 NCIT @@ -91358,8 +91358,8 @@ MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym infiltratin MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym infiltrating lobular carcinoma of the breast infiltrating lobular carcinoma of the breast Infiltrating Lobular Carcinoma of the Breast NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed infiltrating lobular carcinoma of the breast NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular adenocarcinoma invasive lobular adenocarcinoma Invasive Lobular Adenocarcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular adenocarcinoma NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular breast carcinoma invasive lobular breast carcinoma Invasive Lobular Breast Carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular breast carcinoma NCIT:C7950 NCIT -MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive Lobular Carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive lobular carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma NCIT:C7950 NCIT +MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma invasive lobular carcinoma Invasive Lobular Carcinoma NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma of breast invasive lobular carcinoma of breast Invasive Lobular Carcinoma of Breast NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma of breast NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma of the breast invasive lobular carcinoma of the breast Invasive Lobular Carcinoma of the Breast NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma of the breast NCIT:C7950 NCIT MONDO:0005051 invasive lobular breast carcinoma oio:hasExactSynonym invasive lobular carcinoma, classic type invasive lobular carcinoma, classic type Invasive Lobular Carcinoma, Classic Type NCIT:C7950 Invasive Breast Lobular Carcinoma confirmed invasive lobular carcinoma, classic type NCIT:C7950 NCIT @@ -91371,8 +91371,8 @@ MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym Kaposi's sarcoma Kaposi's sa MONDO:0005055 Kaposi's sarcoma oio:hasExactSynonym KS NCIT:C9087 Kaposi Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed KS NCIT:C9087 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005056 keratinizing squamous cell carcinoma oio:hasExactSynonym keratinizing squamous cell carcinoma keratinizing squamous cell carcinoma Keratinizing Squamous Cell Carcinoma NCIT:C4105 Keratinizing Squamous Cell Carcinoma confirmed keratinizing squamous cell carcinoma NCIT:C4105 NCIT MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell NEC large cell NEC Large Cell NEC NCIT:C6875 Large Cell Neuroendocrine Carcinoma confirmed large cell NEC NCIT:C6875 NCIT -MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma Large cell neuroendocrine carcinoma NCIT:C6875 Large Cell Neuroendocrine Carcinoma confirmed large cell neuroendocrine carcinoma NCIT:C6875 NCIT MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma Large Cell Neuroendocrine Carcinoma NCIT:C6875 Large Cell Neuroendocrine Carcinoma confirmed large cell neuroendocrine carcinoma NCIT:C6875 NCIT +MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large cell neuroendocrine carcinoma large cell neuroendocrine carcinoma Large cell neuroendocrine carcinoma NCIT:C6875 Large Cell Neuroendocrine Carcinoma confirmed large cell neuroendocrine carcinoma NCIT:C6875 NCIT MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym large-cell neuroendocrine carcinoma large-cell neuroendocrine carcinoma Large-cell neuroendocrine carcinoma NCIT:C6875 Large Cell Neuroendocrine Carcinoma confirmed large-cell neuroendocrine carcinoma NCIT:C6875 NCIT MONDO:0005057 large cell neuroendocrine carcinoma oio:hasExactSynonym LCNEC NCIT:C6875 Large Cell Neuroendocrine Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LCNEC NCIT:C6875 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005058 leiomyosarcoma oio:hasExactSynonym Leiomyosarcomas NCIT:C3158 Leiomyosarcoma confirmed Leiomyosarcomas NCIT:C3158 NCIT @@ -91424,11 +91424,11 @@ MONDO:0005071 nervous system disorder oio:hasExactSynonym neurologic disorder n MONDO:0005071 nervous system disorder oio:hasExactSynonym neurological disorder neurological disorder Neurological Disorder NCIT:C26835 Nervous System Disorder confirmed neurological disorder NCIT:C26835 NCIT MONDO:0005072 neuroblastoma oio:hasExactSynonym neural Crest tumor, malignant neural Crest tumor, malignant Neural Crest Tumor, Malignant NCIT:C3270 Neuroblastoma confirmed neural Crest tumor, malignant NCIT:C3270 NCIT MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma neuroblastoma Neuroblastoma NCIT:C3270 Neuroblastoma confirmed neuroblastoma NCIT:C3270 NCIT -MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-Poor) NCIT:C3270 Neuroblastoma confirmed neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 NCIT MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 Neuroblastoma confirmed neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 NCIT +MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma (Schwannian Stroma-poor) neuroblastoma (Schwannian Stroma-poor) Neuroblastoma (Schwannian Stroma-Poor) NCIT:C3270 Neuroblastoma confirmed neuroblastoma (Schwannian Stroma-poor) NCIT:C3270 NCIT MONDO:0005072 neuroblastoma oio:hasExactSynonym neuroblastoma, malignant neuroblastoma, malignant NEUROBLASTOMA, MALIGNANT NCIT:C3270 Neuroblastoma confirmed neuroblastoma, malignant NCIT:C3270 NCIT -MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanocytic Nevus melanocytic Nevus Melanocytic nevus NCIT:C7570 Melanocytic Nevus confirmed melanocytic Nevus NCIT:C7570 NCIT MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanocytic Nevus melanocytic Nevus Melanocytic Nevus NCIT:C7570 Melanocytic Nevus confirmed melanocytic Nevus NCIT:C7570 NCIT +MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanocytic Nevus melanocytic Nevus Melanocytic nevus NCIT:C7570 Melanocytic Nevus confirmed melanocytic Nevus NCIT:C7570 NCIT MONDO:0005073 melanocytic nevus oio:hasExactSynonym melanotic Nevus melanotic Nevus Melanotic Nevus NCIT:C7570 Melanocytic Nevus confirmed melanotic Nevus NCIT:C7570 NCIT MONDO:0005073 melanocytic nevus oio:hasExactSynonym mole mole Mole NCIT:C7570 Melanocytic Nevus confirmed mole NCIT:C7570 NCIT MONDO:0005073 melanocytic nevus oio:hasExactSynonym nevus nevus Nevus NCIT:C7570 Melanocytic Nevus confirmed nevus NCIT:C7570 NCIT @@ -91463,8 +91463,8 @@ MONDO:0005085 pterygium oio:hasExactSynonym pterygium of conjunctiva and cornea MONDO:0005087 respiratory system disorder oio:hasExactSynonym disorder of respiratory system disorder of respiratory system Disorder of Respiratory System NCIT:C26871 Respiratory System Disorder confirmed disorder of respiratory system NCIT:C26871 NCIT MONDO:0005087 respiratory system disorder oio:hasExactSynonym respiratory disorder respiratory disorder Respiratory Disorder NCIT:C26871 Respiratory System Disorder confirmed respiratory disorder NCIT:C26871 NCIT MONDO:0005087 respiratory system disorder oio:hasExactSynonym respiratory system disorder respiratory system disorder Respiratory System Disorder NCIT:C26871 Respiratory System Disorder confirmed respiratory system disorder NCIT:C26871 NCIT -MONDO:0005089 sarcoma oio:hasExactSynonym mesenchymal tumor, malignant mesenchymal tumor, malignant Mesenchymal Tumor, Malignant NCIT:C9118 Sarcoma confirmed mesenchymal tumor, malignant NCIT:C9118 NCIT MONDO:0005089 sarcoma oio:hasExactSynonym mesenchymal tumor, malignant mesenchymal tumor, malignant Mesenchymal tumor, malignant NCIT:C9118 Sarcoma confirmed mesenchymal tumor, malignant NCIT:C9118 NCIT +MONDO:0005089 sarcoma oio:hasExactSynonym mesenchymal tumor, malignant mesenchymal tumor, malignant Mesenchymal Tumor, Malignant NCIT:C9118 Sarcoma confirmed mesenchymal tumor, malignant NCIT:C9118 NCIT MONDO:0005089 sarcoma oio:hasExactSynonym sarcoma sarcoma Sarcoma NCIT:C9118 Sarcoma confirmed sarcoma NCIT:C9118 NCIT MONDO:0005089 sarcoma oio:hasExactSynonym sarcoma of soft tissue and bone sarcoma of soft tissue and bone Sarcoma of Soft Tissue and Bone NCIT:C9118 Sarcoma confirmed sarcoma of soft tissue and bone NCIT:C9118 NCIT MONDO:0005089 sarcoma oio:hasExactSynonym sarcoma of the soft tissue and bone sarcoma of the soft tissue and bone Sarcoma of the Soft Tissue and Bone NCIT:C9118 Sarcoma confirmed sarcoma of the soft tissue and bone NCIT:C9118 NCIT @@ -91489,12 +91489,12 @@ MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant epidermoid MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant epidermoid cell tumor malignant epidermoid cell tumor Malignant Epidermoid Cell Tumor NCIT:C2929 Squamous Cell Carcinoma confirmed malignant epidermoid cell tumor NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant squamous cell neoplasm malignant squamous cell neoplasm Malignant Squamous Cell Neoplasm NCIT:C2929 Squamous Cell Carcinoma confirmed malignant squamous cell neoplasm NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym malignant squamous cell tumor malignant squamous cell tumor Malignant Squamous Cell Tumor NCIT:C2929 Squamous Cell Carcinoma confirmed malignant squamous cell tumor NCIT:C2929 NCIT -MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous Carcinoma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous carcinoma NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous carcinoma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous carcinoma NCIT:C2929 NCIT +MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous carcinoma squamous carcinoma Squamous Carcinoma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous carcinoma NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell cancer squamous cell cancer Squamous Cell Cancer NCIT:C2929 Squamous Cell Carcinoma confirmed squamous cell cancer NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma squamous cell carcinoma Squamous Cell Carcinoma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous cell carcinoma NCIT:C2929 NCIT -MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell epithelioma squamous cell epithelioma Squamous cell epithelioma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous cell epithelioma NCIT:C2929 NCIT MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell epithelioma squamous cell epithelioma Squamous Cell Epithelioma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous cell epithelioma NCIT:C2929 NCIT +MONDO:0005096 squamous cell carcinoma oio:hasExactSynonym squamous cell epithelioma squamous cell epithelioma Squamous cell epithelioma NCIT:C2929 Squamous Cell Carcinoma confirmed squamous cell epithelioma NCIT:C2929 NCIT MONDO:0005097 squamous cell lung carcinoma oio:hasExactSynonym epidermoid cell carcinoma of lung epidermoid cell carcinoma of lung Epidermoid Cell Carcinoma of Lung NCIT:C3493 Lung Squamous Cell Carcinoma confirmed epidermoid cell carcinoma of lung NCIT:C3493 NCIT MONDO:0005097 squamous cell lung carcinoma oio:hasExactSynonym epidermoid cell carcinoma of the lung epidermoid cell carcinoma of the lung Epidermoid Cell Carcinoma of the Lung NCIT:C3493 Lung Squamous Cell Carcinoma confirmed epidermoid cell carcinoma of the lung NCIT:C3493 NCIT MONDO:0005097 squamous cell lung carcinoma oio:hasExactSynonym epidermoid cell lung carcinoma epidermoid cell lung carcinoma Epidermoid Cell Lung Carcinoma NCIT:C3493 Lung Squamous Cell Carcinoma confirmed epidermoid cell lung carcinoma NCIT:C3493 NCIT @@ -91518,8 +91518,8 @@ MONDO:0005100 systemic sclerosis oio:hasExactSynonym systemic scleroderma syste MONDO:0005100 systemic sclerosis oio:hasExactSynonym systemic sclerosis systemic sclerosis Systemic Sclerosis NCIT:C72070 Systemic Scleroderma confirmed systemic sclerosis NCIT:C72070 NCIT MONDO:0005101 ulcerative colitis oio:hasExactSynonym colitis ulcerative colitis ulcerative Colitis Ulcerative NCIT:C2952 Ulcerative Colitis confirmed colitis ulcerative NCIT:C2952 NCIT MONDO:0005101 ulcerative colitis oio:hasExactSynonym ulcerative colitis ulcerative colitis Ulcerative Colitis NCIT:C2952 Ulcerative Colitis confirmed ulcerative colitis NCIT:C2952 NCIT -MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal Sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed embryonal sarcoma NCIT:C27096 NCIT MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed embryonal sarcoma NCIT:C27096 NCIT +MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma embryonal sarcoma Embryonal Sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed embryonal sarcoma NCIT:C27096 NCIT MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym embryonal sarcoma (undifferentiated sarcoma) embryonal sarcoma (undifferentiated sarcoma) Embryonal Sarcoma (Undifferentiated Sarcoma) NCIT:C27096 Liver Embryonal Sarcoma confirmed embryonal sarcoma (undifferentiated sarcoma) NCIT:C27096 NCIT MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated (embryonal) sarcoma undifferentiated (embryonal) sarcoma Undifferentiated (Embryonal) Sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed undifferentiated (embryonal) sarcoma NCIT:C27096 NCIT MONDO:0005102 undifferentiated (embryonal) sarcoma oio:hasExactSynonym undifferentiated sarcoma undifferentiated sarcoma Undifferentiated sarcoma NCIT:C27096 Liver Embryonal Sarcoma confirmed undifferentiated sarcoma NCIT:C27096 NCIT @@ -91568,8 +91568,8 @@ MONDO:0005131 cervical carcinoma oio:hasExactSynonym uterine cervix carcinoma u MONDO:0005132 cytomegalovirus infection oio:hasExactSynonym CMV infection CMV infection CMV Infection NCIT:C53649 Cytomegaloviral Infection confirmed CMV infection NCIT:C53649 NCIT MONDO:0005132 cytomegalovirus infection oio:hasExactSynonym Cytomegaloviral infection Cytomegaloviral infection Cytomegaloviral Infection NCIT:C53649 Cytomegaloviral Infection confirmed Cytomegaloviral infection NCIT:C53649 NCIT MONDO:0005132 cytomegalovirus infection oio:hasExactSynonym HCMV infection HCMV infection HCMV Infection NCIT:C53649 Cytomegaloviral Infection confirmed HCMV infection NCIT:C53649 NCIT -MONDO:0005133 endometriosis oio:hasExactSynonym endometriosis endometriosis Endometriosis NCIT:C3014 Endometriosis confirmed endometriosis NCIT:C3014 NCIT MONDO:0005133 endometriosis oio:hasExactSynonym endometriosis endometriosis ENDOMETRIOSIS NCIT:C3014 Endometriosis confirmed endometriosis NCIT:C3014 NCIT +MONDO:0005133 endometriosis oio:hasExactSynonym endometriosis endometriosis Endometriosis NCIT:C3014 Endometriosis confirmed endometriosis NCIT:C3014 NCIT MONDO:0005135 parasitic infectious disease oio:hasExactSynonym parasitic disease parasitic disease Parasitic Disease NCIT:C27864 Parasitic Infection confirmed parasitic disease NCIT:C27864 NCIT MONDO:0005135 parasitic infectious disease oio:hasExactSynonym parasitic infection parasitic infection Parasitic Infection NCIT:C27864 Parasitic Infection confirmed parasitic infection NCIT:C27864 NCIT MONDO:0005137 nutritional disorder oio:hasExactSynonym nutritional disorder nutritional disorder Nutritional Disorder NCIT:C26836 Nutritional Disorder confirmed nutritional disorder NCIT:C26836 NCIT @@ -91596,10 +91596,10 @@ MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym diabetes, type 2 dia MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type 2 diabetes type 2 diabetes Type 2 Diabetes NCIT:C26747 Type 2 Diabetes Mellitus confirmed type 2 diabetes NCIT:C26747 NCIT MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type 2 diabetes mellitus type 2 diabetes mellitus Type 2 Diabetes Mellitus NCIT:C26747 Type 2 Diabetes Mellitus confirmed type 2 diabetes mellitus NCIT:C26747 NCIT MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type 2 diabetes mellitus non-insulin dependent type 2 diabetes mellitus non-insulin dependent Type 2 Diabetes Mellitus Non-Insulin Dependent NCIT:C26747 Type 2 Diabetes Mellitus confirmed type 2 diabetes mellitus non-insulin dependent NCIT:C26747 NCIT -MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type II diabetes type II diabetes Type II Diabetes NCIT:C26747 Type 2 Diabetes Mellitus confirmed type II diabetes NCIT:C26747 NCIT MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type II diabetes type II diabetes Type II diabetes NCIT:C26747 Type 2 Diabetes Mellitus confirmed type II diabetes NCIT:C26747 NCIT -MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type II diabetes mellitus type II diabetes mellitus Type II Diabetes mellitus NCIT:C26747 Type 2 Diabetes Mellitus confirmed type II diabetes mellitus NCIT:C26747 NCIT +MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type II diabetes type II diabetes Type II Diabetes NCIT:C26747 Type 2 Diabetes Mellitus confirmed type II diabetes NCIT:C26747 NCIT MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type II diabetes mellitus type II diabetes mellitus Type II Diabetes Mellitus NCIT:C26747 Type 2 Diabetes Mellitus confirmed type II diabetes mellitus NCIT:C26747 NCIT +MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym type II diabetes mellitus type II diabetes mellitus Type II Diabetes mellitus NCIT:C26747 Type 2 Diabetes Mellitus confirmed type II diabetes mellitus NCIT:C26747 NCIT MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym adult onset diabetes adult onset diabetes Adult Onset Diabetes NCIT:C26747 Type 2 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed adult onset diabetes NCIT:C26747 NCIT MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym adult-onset diabetes adult-onset diabetes Adult-Onset Diabetes NCIT:C26747 Type 2 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed adult-onset diabetes NCIT:C26747 NCIT MONDO:0005148 type 2 diabetes mellitus oio:hasExactSynonym non-insulin dependent diabetes non-insulin dependent diabetes Non-Insulin Dependent Diabetes NCIT:C26747 Type 2 Diabetes Mellitus http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed non-insulin dependent diabetes NCIT:C26747 NCIT @@ -91663,8 +91663,8 @@ MONDO:0005173 actinic keratosis oio:hasExactSynonym actinic (solar) keratosis a MONDO:0005173 actinic keratosis oio:hasExactSynonym actinic keratosis actinic keratosis Actinic Keratosis NCIT:C3148 Actinic Keratosis confirmed actinic keratosis NCIT:C3148 NCIT MONDO:0005173 actinic keratosis oio:hasExactSynonym solar keratosis solar keratosis Solar Keratosis NCIT:C3148 Actinic Keratosis confirmed solar keratosis NCIT:C3148 NCIT MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystadenoma serous cystadenoma Serous Cystadenoma NCIT:C3783 Serous Cystadenoma confirmed serous cystadenoma NCIT:C3783 NCIT -MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous cystoma NCIT:C3783 Serous Cystadenoma confirmed serous cystoma NCIT:C3783 NCIT MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous Cystoma NCIT:C3783 Serous Cystadenoma confirmed serous cystoma NCIT:C3783 NCIT +MONDO:0005177 serous cystadenoma oio:hasExactSynonym serous cystoma serous cystoma Serous cystoma NCIT:C3783 Serous Cystadenoma confirmed serous cystoma NCIT:C3783 NCIT MONDO:0005178 osteoarthritis oio:hasExactSynonym degenerative joint disease degenerative joint disease DEGENERATIVE JOINT DISEASE NCIT:C3293 Osteoarthritis confirmed degenerative joint disease NCIT:C3293 NCIT MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson's disease Parkinson's disease Parkinson's Disease NCIT:C26845 Parkinson Disease confirmed Parkinson's disease NCIT:C26845 NCIT MONDO:0005180 Parkinson disease oio:hasExactSynonym Parkinson disease Parkinson disease Parkinson Disease NCIT:C26845 Parkinson Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Parkinson disease NCIT:C26845 NCIT @@ -91774,8 +91774,8 @@ MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic diseas MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of breast fibrocystic disease of breast Fibrocystic Disease of Breast NCIT:C3039 Breast Fibrocystic Change confirmed fibrocystic disease of breast NCIT:C3039 NCIT MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic disease of the breast fibrocystic disease of the breast Fibrocystic Disease of the Breast NCIT:C3039 Breast Fibrocystic Change confirmed fibrocystic disease of the breast NCIT:C3039 NCIT MONDO:0005219 breast fibrocystic disease oio:hasExactSynonym fibrocystic mastopathy fibrocystic mastopathy Fibrocystic Mastopathy NCIT:C3039 Breast Fibrocystic Change confirmed fibrocystic mastopathy NCIT:C3039 NCIT -MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma Bellini duct carcinoma Bellini Duct Carcinoma NCIT:C6194 Collecting Duct Carcinoma confirmed Bellini duct carcinoma NCIT:C6194 NCIT MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma NCIT:C6194 Collecting Duct Carcinoma confirmed Bellini duct carcinoma NCIT:C6194 NCIT +MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym Bellini duct carcinoma Bellini duct carcinoma Bellini Duct Carcinoma NCIT:C6194 Collecting Duct Carcinoma confirmed Bellini duct carcinoma NCIT:C6194 NCIT MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of collecting ducts of Bellini carcinoma of collecting ducts of Bellini Carcinoma of Collecting Ducts of Bellini NCIT:C6194 Collecting Duct Carcinoma confirmed carcinoma of collecting ducts of Bellini NCIT:C6194 NCIT MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of kidney collecting duct carcinoma of kidney collecting duct Carcinoma of Kidney Collecting Duct NCIT:C6194 Collecting Duct Carcinoma confirmed carcinoma of kidney collecting duct NCIT:C6194 NCIT MONDO:0005220 collecting duct carcinoma oio:hasExactSynonym carcinoma of renal collecting duct carcinoma of renal collecting duct Carcinoma of Renal Collecting Duct NCIT:C6194 Collecting Duct Carcinoma confirmed carcinoma of renal collecting duct NCIT:C6194 NCIT @@ -91974,8 +91974,8 @@ MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym Hepatitis B NCI MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym Hepatitis B infection Hepatitis B infection Hepatitis B Infection NCIT:C3097 Hepatitis B Infection confirmed Hepatitis B infection NCIT:C3097 NCIT MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym hepatitis B infection hepatitis B infection Hepatitis B Infection NCIT:C3097 Hepatitis B Infection confirmed hepatitis B infection NCIT:C3097 NCIT MONDO:0005344 hepatitis B virus infection oio:hasExactSynonym viral Hepatitis B viral Hepatitis B Viral Hepatitis B NCIT:C3097 Hepatitis B Infection confirmed viral Hepatitis B NCIT:C3097 NCIT -MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias HYPOSPADIAS NCIT:C40341 Hypospadias confirmed hypospadias NCIT:C40341 NCIT MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias Hypospadias NCIT:C40341 Hypospadias confirmed hypospadias NCIT:C40341 NCIT +MONDO:0005345 hypospadias oio:hasExactSynonym hypospadias hypospadias HYPOSPADIAS NCIT:C40341 Hypospadias confirmed hypospadias NCIT:C40341 NCIT MONDO:0005349 otosclerosis oio:hasExactSynonym otosclerosis otosclerosis Otosclerosis NCIT:C185242 Otosclerosis confirmed otosclerosis NCIT:C185242 NCIT MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym Creutzfeldt-Jacob disease Creutzfeldt-Jacob disease Creutzfeldt-Jacob Disease NCIT:C26802 Creutzfeldt-Jakob Disease confirmed Creutzfeldt-Jacob disease NCIT:C26802 NCIT MONDO:0005357 Creutzfeldt Jacob disease oio:hasExactSynonym classic Creutzfeldt-Jakob disease classic Creutzfeldt-Jakob disease Classic Creutzfeldt-Jakob Disease NCIT:C26802 Creutzfeldt-Jakob Disease confirmed classic Creutzfeldt-Jakob disease NCIT:C26802 NCIT @@ -92050,8 +92050,8 @@ MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynon MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic malignant neoplasm to the lymph nodes metastatic malignant neoplasm to the lymph nodes Metastatic Malignant Neoplasm to the Lymph Nodes NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes confirmed metastatic malignant neoplasm to the lymph nodes NCIT:C4904 NCIT MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic neoplasm to the lymph node metastatic neoplasm to the lymph node Metastatic Neoplasm to the Lymph Node NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes confirmed metastatic neoplasm to the lymph node NCIT:C4904 NCIT MONDO:0005438 metastatic malignant neoplasm in the lymph nodes oio:hasExactSynonym metastatic tumor to lymph node metastatic tumor to lymph node Metastatic Tumor to Lymph Node NCIT:C4904 Metastatic Malignant Neoplasm in the Lymph Nodes confirmed metastatic tumor to lymph node NCIT:C4904 NCIT -MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant Carcinoma, Embryonal, Malignant NCIT:C3752 Embryonal Carcinoma confirmed carcinoma, embryonal, malignant NCIT:C3752 NCIT MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant CARCINOMA, EMBRYONAL, MALIGNANT NCIT:C3752 Embryonal Carcinoma confirmed carcinoma, embryonal, malignant NCIT:C3752 NCIT +MONDO:0005440 embryonal carcinoma oio:hasExactSynonym carcinoma, embryonal, malignant carcinoma, embryonal, malignant Carcinoma, Embryonal, Malignant NCIT:C3752 Embryonal Carcinoma confirmed carcinoma, embryonal, malignant NCIT:C3752 NCIT MONDO:0005440 embryonal carcinoma oio:hasExactSynonym embryonal carcinoma embryonal carcinoma Embryonal Carcinoma NCIT:C3752 Embryonal Carcinoma confirmed embryonal carcinoma NCIT:C3752 NCIT MONDO:0005441 otitis media oio:hasExactSynonym medial otitis medial otitis Medial Otitis NCIT:C34885 Otitis Media confirmed medial otitis NCIT:C34885 NCIT MONDO:0005441 otitis media oio:hasExactSynonym middle Ear Inflammation middle Ear Inflammation Middle Ear Inflammation NCIT:C34885 Otitis Media confirmed middle Ear Inflammation NCIT:C34885 NCIT @@ -92195,8 +92195,8 @@ MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell adenocar MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell cancer renal cell cancer Renal Cell Cancer NCIT:C9385 Renal Cell Carcinoma confirmed renal cell cancer NCIT:C9385 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym renal cell carcinoma, stage unspecified renal cell carcinoma, stage unspecified Renal Cell Carcinoma, Stage Unspecified NCIT:C9385 Renal Cell Carcinoma confirmed renal cell carcinoma, stage unspecified NCIT:C9385 NCIT MONDO:0005549 renal cell adenocarcinoma oio:hasExactSynonym RCC NCIT:C9385 Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCC NCIT:C9385 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005550 infectious disease oio:hasExactSynonym infection infection INFECTION NCIT:C26726 Infectious Disorder confirmed infection NCIT:C26726 NCIT MONDO:0005550 infectious disease oio:hasExactSynonym infection infection Infection NCIT:C26726 Infectious Disorder confirmed infection NCIT:C26726 NCIT +MONDO:0005550 infectious disease oio:hasExactSynonym infection infection INFECTION NCIT:C26726 Infectious Disorder confirmed infection NCIT:C26726 NCIT MONDO:0005550 infectious disease oio:hasExactSynonym infectious infectious Infectious NCIT:C26726 Infectious Disorder confirmed infectious NCIT:C26726 NCIT MONDO:0005550 infectious disease oio:hasExactSynonym infectious disease infectious disease Infectious Disease NCIT:C26726 Infectious Disorder confirmed infectious disease NCIT:C26726 NCIT MONDO:0005550 infectious disease oio:hasExactSynonym infectious diseases and manifestations infectious diseases and manifestations Infectious Diseases and Manifestations NCIT:C26726 Infectious Disorder confirmed infectious diseases and manifestations NCIT:C26726 NCIT @@ -92212,12 +92212,12 @@ MONDO:0005558 ovarian disorder oio:hasExactSynonym ovarian disorder ovarian dis MONDO:0005559 neurodegenerative disease oio:hasExactSynonym central nervous system degenerative disorder central nervous system degenerative disorder Central Nervous System Degenerative Disorder NCIT:C4802 Central Nervous System Degenerative Disorder confirmed central nervous system degenerative disorder NCIT:C4802 NCIT MONDO:0005559 neurodegenerative disease oio:hasExactSynonym central nervous system neurodegenerative disorder central nervous system neurodegenerative disorder Central Nervous System Neurodegenerative Disorder NCIT:C4802 Central Nervous System Degenerative Disorder confirmed central nervous system neurodegenerative disorder NCIT:C4802 NCIT MONDO:0005561 aortic disorder oio:hasExactSynonym aorta disease aorta disease Aorta Disease NCIT:C101253 Aorta Disease confirmed aorta disease NCIT:C101253 NCIT -MONDO:0005563 nut midline carcinoma oio:hasExactSynonym Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and young adults with NUT rearrangement NCIT:C45716 NUT Carcinoma confirmed Midline carcinoma of children and Young adults with NUT rearrangement NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and Young adults with NUT rearrangement Midline Carcinoma of Children and Young Adults with NUT Rearrangement NCIT:C45716 NUT Carcinoma confirmed Midline carcinoma of children and Young adults with NUT rearrangement NCIT:C45716 NCIT -MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT Midline Carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT Midline carcinoma NCIT:C45716 NCIT +MONDO:0005563 nut midline carcinoma oio:hasExactSynonym Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and Young adults with NUT rearrangement Midline carcinoma of children and young adults with NUT rearrangement NCIT:C45716 NUT Carcinoma confirmed Midline carcinoma of children and Young adults with NUT rearrangement NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT midline carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT Midline carcinoma NCIT:C45716 NCIT -MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT carcinoma NCIT:C45716 NCIT +MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT Midline carcinoma NUT Midline carcinoma NUT Midline Carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT Midline carcinoma NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NUT carcinoma NUT Carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT carcinoma NCIT:C45716 NCIT +MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NUT carcinoma NCIT:C45716 NUT Carcinoma confirmed NUT carcinoma NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym carcinoma with t(15;19)(q13;p13.1) translocation carcinoma with t(15;19)(q13;p13.1) translocation Carcinoma with t(15;19)(q13;p13.1) Translocation NCIT:C45716 NUT Carcinoma confirmed carcinoma with t(15;19)(q13;p13.1) translocation NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym nuclear protein in testis midline carcinoma nuclear protein in testis midline carcinoma Nuclear Protein in Testis Midline Carcinoma NCIT:C45716 NUT Carcinoma confirmed nuclear protein in testis midline carcinoma NCIT:C45716 NCIT MONDO:0005563 nut midline carcinoma oio:hasExactSynonym NMC NCIT:C45716 NUT Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed NMC NCIT:C45716 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -92302,11 +92302,11 @@ MONDO:0005602 ovarian teratoma oio:hasExactSynonym ovarian teratoma ovarian ter MONDO:0005602 ovarian teratoma oio:hasExactSynonym teratoma of ovary teratoma of ovary Teratoma of Ovary NCIT:C8110 Ovarian Teratoma confirmed teratoma of ovary NCIT:C8110 NCIT MONDO:0005602 ovarian teratoma oio:hasExactSynonym teratoma of the ovary teratoma of the ovary Teratoma of the Ovary NCIT:C8110 Ovarian Teratoma confirmed teratoma of the ovary NCIT:C8110 NCIT MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional cell papilloma transitional cell papilloma Transitional Cell Papilloma NCIT:C4115 Transitional Cell Papilloma confirmed transitional cell papilloma NCIT:C4115 NCIT -MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional papilloma NCIT:C4115 Transitional Cell Papilloma confirmed transitional papilloma NCIT:C4115 NCIT MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional Papilloma NCIT:C4115 Transitional Cell Papilloma confirmed transitional papilloma NCIT:C4115 NCIT +MONDO:0005605 transitional cell papilloma oio:hasExactSynonym transitional papilloma transitional papilloma Transitional papilloma NCIT:C4115 Transitional Cell Papilloma confirmed transitional papilloma NCIT:C4115 NCIT MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym carcinoma, tubular cell, malignant carcinoma, tubular cell, malignant CARCINOMA, TUBULAR CELL, MALIGNANT NCIT:C65192 Tubular Adenocarcinoma confirmed carcinoma, tubular cell, malignant NCIT:C65192 NCIT -MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular Adenocarcinoma NCIT:C65192 Tubular Adenocarcinoma confirmed tubular adenocarcinoma NCIT:C65192 NCIT MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular adenocarcinoma NCIT:C65192 Tubular Adenocarcinoma confirmed tubular adenocarcinoma NCIT:C65192 NCIT +MONDO:0005606 tubular adenocarcinoma oio:hasExactSynonym tubular adenocarcinoma tubular adenocarcinoma Tubular Adenocarcinoma NCIT:C65192 Tubular Adenocarcinoma confirmed tubular adenocarcinoma NCIT:C65192 NCIT MONDO:0005608 varicella zoster infection oio:hasExactSynonym Varicella-zoster Virus infection Varicella-zoster Virus infection Varicella-Zoster Virus Infection NCIT:C96407 Varicella Zoster Infection confirmed Varicella-zoster Virus infection NCIT:C96407 NCIT MONDO:0005608 varicella zoster infection oio:hasExactSynonym varicella zoster infection varicella zoster infection Varicella Zoster Infection NCIT:C96407 Varicella Zoster Infection confirmed varicella zoster infection NCIT:C96407 NCIT MONDO:0005609 herpes zoster oio:hasExactSynonym Zoster NCIT:C71079 Herpes Zoster confirmed Zoster NCIT:C71079 NCIT @@ -92357,12 +92357,12 @@ MONDO:0005628 male breast carcinoma oio:hasExactSynonym male breast carcinoma m MONDO:0005632 acute chest syndrome oio:hasExactSynonym ACS NCIT:C138179 Acute Chest Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ACS NCIT:C138179 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005635 adenomyoma oio:hasExactSynonym adenomyoma adenomyoma Adenomyoma NCIT:C3726 Adenomyoma confirmed adenomyoma NCIT:C3726 NCIT MONDO:0005635 adenomyoma oio:hasExactSynonym adenomyoma, benign adenomyoma, benign ADENOMYOMA, BENIGN NCIT:C3726 Adenomyoma confirmed adenomyoma, benign NCIT:C3726 NCIT -MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma NCIT:C9474 Adenosarcoma confirmed Mullerian adenosarcoma NCIT:C9474 NCIT MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma Mullerian adenosarcoma Mullerian Adenosarcoma NCIT:C9474 Adenosarcoma confirmed Mullerian adenosarcoma NCIT:C9474 NCIT +MONDO:0005636 adenosarcoma oio:hasExactSynonym Mullerian adenosarcoma NCIT:C9474 Adenosarcoma confirmed Mullerian adenosarcoma NCIT:C9474 NCIT MONDO:0005636 adenosarcoma oio:hasExactSynonym Müllerian adenosarcoma Müllerian adenosarcoma Müllerian Adenosarcoma NCIT:C9474 Adenosarcoma confirmed Müllerian adenosarcoma NCIT:C9474 NCIT MONDO:0005636 adenosarcoma oio:hasExactSynonym adenosarcoma adenosarcoma Adenosarcoma NCIT:C9474 Adenosarcoma confirmed adenosarcoma NCIT:C9474 NCIT -MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian adenosarcoma NCIT:C9474 Adenosarcoma confirmed mullerian adenosarcoma NCIT:C9474 NCIT MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian Adenosarcoma NCIT:C9474 Adenosarcoma confirmed mullerian adenosarcoma NCIT:C9474 NCIT +MONDO:0005636 adenosarcoma oio:hasExactSynonym mullerian adenosarcoma mullerian adenosarcoma Mullerian adenosarcoma NCIT:C9474 Adenosarcoma confirmed mullerian adenosarcoma NCIT:C9474 NCIT MONDO:0005638 agnosia oio:hasExactSynonym agnosia agnosia Agnosia NCIT:C84542 Agnosia confirmed agnosia NCIT:C84542 NCIT MONDO:0005642 atopic conjunctivitis oio:hasExactSynonym Atopic conjunctivitis Atopic conjunctivitis Atopic Conjunctivitis NCIT:C34506 Atopic Conjunctivitis confirmed Atopic conjunctivitis NCIT:C34506 NCIT MONDO:0005642 atopic conjunctivitis oio:hasExactSynonym allergic conjunctivitis allergic conjunctivitis Allergic Conjunctivitis NCIT:C34506 Atopic Conjunctivitis confirmed allergic conjunctivitis NCIT:C34506 NCIT @@ -92372,8 +92372,8 @@ MONDO:0005648 aortic valve insufficiency oio:hasExactSynonym aortic insufficien MONDO:0005663 Barre-Lieou syndrome oio:hasExactSynonym Cervicocranial syndrome Cervicocranial syndrome Cervicocranial Syndrome NCIT:C34411 Cervicocranial Syndrome confirmed Cervicocranial syndrome NCIT:C34411 NCIT MONDO:0005663 Barre-Lieou syndrome oio:hasExactSynonym posterior cervical sympathetic syndrome posterior cervical sympathetic syndrome Posterior Cervical Sympathetic Syndrome NCIT:C34411 Cervicocranial Syndrome confirmed posterior cervical sympathetic syndrome NCIT:C34411 NCIT MONDO:0005664 bartonellosis oio:hasExactSynonym Bartonella infection Bartonella infection Bartonella Infection NCIT:C84586 Bartonella Infection confirmed Bartonella infection NCIT:C84586 NCIT -MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial nerve palsy NCIT:C26769 Cranial Nerve VII Palsy confirmed facial nerve palsy NCIT:C26769 NCIT MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial Nerve Palsy NCIT:C26769 Cranial Nerve VII Palsy confirmed facial nerve palsy NCIT:C26769 NCIT +MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve palsy facial nerve palsy Facial nerve palsy NCIT:C26769 Cranial Nerve VII Palsy confirmed facial nerve palsy NCIT:C26769 NCIT MONDO:0005665 Bell's palsy oio:hasExactSynonym facial nerve paralysis facial nerve paralysis Facial Nerve Paralysis NCIT:C26769 Cranial Nerve VII Palsy confirmed facial nerve paralysis NCIT:C26769 NCIT MONDO:0005668 bird fancier's lung oio:hasExactSynonym Avian hypersensitivity pneumonitis Avian hypersensitivity pneumonitis Avian Hypersensitivity Pneumonitis NCIT:C34425 Bird Fancier's Lung confirmed Avian hypersensitivity pneumonitis NCIT:C34425 NCIT MONDO:0005668 bird fancier's lung oio:hasExactSynonym bird fancier's lung bird fancier's lung Bird Fancier's Lung NCIT:C34425 Bird Fancier's Lung confirmed bird fancier's lung NCIT:C34425 NCIT @@ -92419,8 +92419,8 @@ MONDO:0005731 dipetalonemiasis oio:hasExactSynonym dipetalonemiasis dipetalonem MONDO:0005737 Ebola hemorrhagic fever oio:hasExactSynonym Ebola NCIT:C36171 Ebola Hemorrhagic Fever confirmed Ebola NCIT:C36171 NCIT MONDO:0005738 echinococcosis oio:hasExactSynonym echinococcosis echinococcosis Echinococcosis NCIT:C84682 Echinococcosis confirmed echinococcosis NCIT:C84682 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus neoplasm endodermal sinus neoplasm Endodermal Sinus Neoplasm NCIT:C3011 Yolk Sac Tumor confirmed endodermal sinus neoplasm NCIT:C3011 NCIT -MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor NCIT:C3011 Yolk Sac Tumor confirmed endodermal sinus tumor NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus tumor endodermal sinus tumor Endodermal Sinus Tumor NCIT:C3011 Yolk Sac Tumor confirmed endodermal sinus tumor NCIT:C3011 NCIT +MONDO:0005744 yolk sac tumor oio:hasExactSynonym endodermal sinus tumor endodermal sinus tumor Endodermal sinus tumor NCIT:C3011 Yolk Sac Tumor confirmed endodermal sinus tumor NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk SAC tumor, malignant yolk SAC tumor, malignant YOLK SAC TUMOR, MALIGNANT NCIT:C3011 Yolk Sac Tumor confirmed yolk SAC tumor, malignant NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac neoplasm yolk Sac neoplasm Yolk Sac Neoplasm NCIT:C3011 Yolk Sac Tumor confirmed yolk Sac neoplasm NCIT:C3011 NCIT MONDO:0005744 yolk sac tumor oio:hasExactSynonym yolk Sac tumor yolk Sac tumor Yolk Sac Tumor NCIT:C3011 Yolk Sac Tumor confirmed yolk Sac tumor NCIT:C3011 NCIT @@ -92436,11 +92436,11 @@ MONDO:0005754 epilepsy with generalized tonic-clonic seizures oio:hasExactSynony MONDO:0005754 epilepsy with generalized tonic-clonic seizures oio:hasExactSynonym tonic-clonic epilepsy tonic-clonic epilepsy Tonic-Clonic Epilepsy NCIT:C3022 Tonic-Clonic Epilepsy confirmed tonic-clonic epilepsy NCIT:C3022 NCIT MONDO:0005756 ethmoid sinusitis oio:hasExactSynonym ethmoidal sinusitis ethmoidal sinusitis Ethmoidal Sinusitis NCIT:C34597 Ethmoidal Sinusitis confirmed ethmoidal sinusitis NCIT:C34597 NCIT MONDO:0005758 eunuchism oio:hasExactSynonym Primary testicular failure Primary testicular failure Primary Testicular Failure NCIT:C131195 Primary Testicular Failure confirmed Primary testicular failure NCIT:C131195 NCIT -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular Dendritic cell sarcoma NCIT:C9281 NCIT MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular Dendritic cell sarcoma NCIT:C9281 NCIT +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma follicular Dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular Dendritic cell sarcoma NCIT:C9281 NCIT MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular Dendritic cell sarcoma/tumor follicular Dendritic cell sarcoma/tumor Follicular Dendritic Cell Sarcoma/Tumor NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular Dendritic cell sarcoma/tumor NCIT:C9281 NCIT -MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular dendritic cell sarcoma NCIT:C9281 NCIT MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular Dendritic Cell Sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular dendritic cell sarcoma NCIT:C9281 NCIT +MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell sarcoma follicular dendritic cell sarcoma Follicular dendritic cell sarcoma NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular dendritic cell sarcoma NCIT:C9281 NCIT MONDO:0005764 follicular dendritic cell sarcoma oio:hasExactSynonym follicular dendritic cell tumor follicular dendritic cell tumor Follicular dendritic cell tumor NCIT:C9281 Follicular Dendritic Cell Sarcoma confirmed follicular dendritic cell tumor NCIT:C9281 NCIT MONDO:0005769 geniculate herpes zoster oio:hasExactSynonym Herpes Zoster Oticus NCIT:C84763 Herpes Zoster Oticus confirmed Herpes Zoster Oticus NCIT:C84763 NCIT MONDO:0005771 geographic tongue oio:hasExactSynonym benign migratory glossitis benign migratory glossitis Benign Migratory Glossitis NCIT:C84588 Benign Migratory Glossitis confirmed benign migratory glossitis NCIT:C84588 NCIT @@ -92507,8 +92507,8 @@ MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary non-polyposis colon MONDO:0005835 Lynch syndrome oio:hasExactSynonym Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 Lynch Syndrome confirmed Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 NCIT MONDO:0005835 Lynch syndrome oio:hasExactSynonym familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 Lynch Syndrome confirmed familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) NCIT:C8494 NCIT MONDO:0005835 Lynch syndrome oio:hasExactSynonym hereditary defective mismatch repair syndrome hereditary defective mismatch repair syndrome Hereditary Defective Mismatch Repair Syndrome NCIT:C8494 Lynch Syndrome confirmed hereditary defective mismatch repair syndrome NCIT:C8494 NCIT -MONDO:0005835 Lynch syndrome oio:hasExactSynonym Lynch syndrome Lynch syndrome Lynch Syndrome NCIT:C8494 Lynch Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Lynch syndrome NCIT:C8494 NCIT MONDO:0005835 Lynch syndrome oio:hasExactSynonym Lynch syndrome NCIT:C8494 Lynch Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Lynch syndrome NCIT:C8494 NCIT +MONDO:0005835 Lynch syndrome oio:hasExactSynonym Lynch syndrome Lynch syndrome Lynch Syndrome NCIT:C8494 Lynch Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Lynch syndrome NCIT:C8494 NCIT MONDO:0005836 male reproductive organ cancer oio:hasExactSynonym malignant Male reproductive system neoplasm malignant Male reproductive system neoplasm Malignant Male Reproductive System Neoplasm NCIT:C8561 Malignant Male Reproductive System Neoplasm confirmed malignant Male reproductive system neoplasm NCIT:C8561 NCIT MONDO:0005836 male reproductive organ cancer oio:hasExactSynonym malignant Male reproductive system tumor malignant Male reproductive system tumor Malignant Male Reproductive System Tumor NCIT:C8561 Malignant Male Reproductive System Neoplasm confirmed malignant Male reproductive system tumor NCIT:C8561 NCIT MONDO:0005836 male reproductive organ cancer oio:hasExactSynonym malignant neoplasm of Male reproductive system malignant neoplasm of Male reproductive system Malignant Neoplasm of Male Reproductive System NCIT:C8561 Malignant Male Reproductive System Neoplasm confirmed malignant neoplasm of Male reproductive system NCIT:C8561 NCIT @@ -92534,8 +92534,8 @@ MONDO:0005853 malignant mixed neoplasm oio:hasExactSynonym malignant mixed neop MONDO:0005853 malignant mixed neoplasm oio:hasExactSynonym malignant mixed tumor malignant mixed tumor Malignant Mixed Tumor NCIT:C3729 Malignant Mixed Neoplasm confirmed malignant mixed tumor NCIT:C3729 NCIT MONDO:0005853 malignant mixed neoplasm oio:hasExactSynonym tumor, mixed, malignant tumor, mixed, malignant TUMOR, MIXED, MALIGNANT NCIT:C3729 Malignant Mixed Neoplasm confirmed tumor, mixed, malignant NCIT:C3729 NCIT MONDO:0005854 mixed connective tissue disease oio:hasExactSynonym MCTD NCIT:C84892 Mixed Connective Tissue Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCTD NCIT:C84892 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0005858 mucinous cystadenocarcinoma oio:hasExactSynonym Pseudomucinous adenocarcinoma NCIT:C3776 Mucinous Cystadenocarcinoma confirmed Pseudomucinous adenocarcinoma NCIT:C3776 NCIT MONDO:0005858 mucinous cystadenocarcinoma oio:hasExactSynonym Pseudomucinous adenocarcinoma Pseudomucinous adenocarcinoma Pseudomucinous Adenocarcinoma NCIT:C3776 Mucinous Cystadenocarcinoma confirmed Pseudomucinous adenocarcinoma NCIT:C3776 NCIT +MONDO:0005858 mucinous cystadenocarcinoma oio:hasExactSynonym Pseudomucinous adenocarcinoma NCIT:C3776 Mucinous Cystadenocarcinoma confirmed Pseudomucinous adenocarcinoma NCIT:C3776 NCIT MONDO:0005858 mucinous cystadenocarcinoma oio:hasExactSynonym Pseudomucinous cystadenocarcinoma Pseudomucinous cystadenocarcinoma Pseudomucinous Cystadenocarcinoma NCIT:C3776 Mucinous Cystadenocarcinoma confirmed Pseudomucinous cystadenocarcinoma NCIT:C3776 NCIT MONDO:0005858 mucinous cystadenocarcinoma oio:hasExactSynonym mucinous cystadenocarcinoma mucinous cystadenocarcinoma Mucinous Cystadenocarcinoma NCIT:C3776 Mucinous Cystadenocarcinoma confirmed mucinous cystadenocarcinoma NCIT:C3776 NCIT MONDO:0005859 mucocutaneous leishmaniasis oio:hasExactSynonym American cutaneous leishmaniasis American cutaneous leishmaniasis American Cutaneous Leishmaniasis NCIT:C34769 American Cutaneous Leishmaniasis confirmed American cutaneous leishmaniasis NCIT:C34769 NCIT @@ -92610,8 +92610,8 @@ MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym FIBROADENOCARCINOMA, MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma with Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma confirmed adenocarcinoma with productive fibrosis NCIT:C2928 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym adenocarcinoma with productive fibrosis adenocarcinoma with productive fibrosis Adenocarcinoma With Productive Fibrosis NCIT:C2928 Scirrhous Adenocarcinoma confirmed adenocarcinoma with productive fibrosis NCIT:C2928 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym fibrocarcinoma fibrocarcinoma Fibrocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed fibrocarcinoma NCIT:C2928 NCIT -MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous Adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous adenocarcinoma NCIT:C2928 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous adenocarcinoma NCIT:C2928 NCIT +MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous adenocarcinoma scirrhous adenocarcinoma Scirrhous Adenocarcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous adenocarcinoma NCIT:C2928 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous Carcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous carcinoma NCIT:C2928 NCIT MONDO:0005953 scirrhous adenocarcinoma oio:hasExactSynonym scirrhous carcinoma scirrhous carcinoma Scirrhous carcinoma NCIT:C2928 Scirrhous Adenocarcinoma confirmed scirrhous carcinoma NCIT:C2928 NCIT MONDO:0005960 silicosis oio:hasExactSynonym silicosis silicosis Silicosis NCIT:C3369 Silicosis confirmed silicosis NCIT:C3369 NCIT @@ -92640,8 +92640,8 @@ MONDO:0006003 uterine corpus cancer oio:hasExactSynonym uterine (including endo MONDO:0006003 uterine corpus cancer oio:hasExactSynonym uterine corpus cancer uterine corpus cancer Uterine Corpus Cancer NCIT:C61574 Uterine Corpus Cancer confirmed uterine corpus cancer NCIT:C61574 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous carcinoma verrucous carcinoma Verrucous Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous carcinoma NCIT:C3781 NCIT -MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid carcinoma verrucous epidermoid carcinoma Verrucous epidermoid carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous epidermoid carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid carcinoma verrucous epidermoid carcinoma Verrucous Epidermoid Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous epidermoid carcinoma NCIT:C3781 NCIT +MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid carcinoma verrucous epidermoid carcinoma Verrucous epidermoid carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous epidermoid carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous epidermoid cell carcinoma verrucous epidermoid cell carcinoma Verrucous Epidermoid Cell Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous epidermoid cell carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous carcinoma verrucous squamous carcinoma Verrucous Squamous Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous squamous carcinoma NCIT:C3781 NCIT MONDO:0006006 verrucous carcinoma oio:hasExactSynonym verrucous squamous cell carcinoma verrucous squamous cell carcinoma Verrucous Squamous Cell Carcinoma NCIT:C3781 Verrucous Carcinoma confirmed verrucous squamous cell carcinoma NCIT:C3781 NCIT @@ -92718,8 +92718,8 @@ MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous carci MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell breast carcinoma squamous cell breast carcinoma Squamous Cell Breast Carcinoma NCIT:C5177 Breast Squamous Cell Carcinoma confirmed squamous cell breast carcinoma NCIT:C5177 NCIT MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell carcinoma of breast squamous cell carcinoma of breast Squamous Cell Carcinoma of Breast NCIT:C5177 Breast Squamous Cell Carcinoma confirmed squamous cell carcinoma of breast NCIT:C5177 NCIT MONDO:0006056 squamous cell breast carcinoma oio:hasExactSynonym squamous cell carcinoma of the breast squamous cell carcinoma of the breast Squamous Cell Carcinoma of the Breast NCIT:C5177 Breast Squamous Cell Carcinoma confirmed squamous cell carcinoma of the breast NCIT:C5177 NCIT -MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor confirmed Wilms tumor NCIT:C3267 NCIT MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor NCIT:C3267 Wilms Tumor confirmed Wilms tumor NCIT:C3267 NCIT +MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms tumor Wilms tumor Wilms Tumor NCIT:C3267 Wilms Tumor confirmed Wilms tumor NCIT:C3267 NCIT MONDO:0006058 Wilms tumor oio:hasExactSynonym Wilms' tumor Wilms' tumor Wilms' Tumor NCIT:C3267 Wilms Tumor confirmed Wilms' tumor NCIT:C3267 NCIT MONDO:0006059 nasal cavity squamous cell carcinoma oio:hasExactSynonym nasal cavity squamous cell carcinoma nasal cavity squamous cell carcinoma Nasal Cavity Squamous Cell Carcinoma NCIT:C8192 Nasal Cavity Squamous Cell Carcinoma confirmed nasal cavity squamous cell carcinoma NCIT:C8192 NCIT MONDO:0006059 nasal cavity squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of nasal cavity squamous cell carcinoma of nasal cavity Squamous Cell Carcinoma of Nasal Cavity NCIT:C8192 Nasal Cavity Squamous Cell Carcinoma confirmed squamous cell carcinoma of nasal cavity NCIT:C8192 NCIT @@ -92812,12 +92812,12 @@ MONDO:0006073 adenomatoid odontogenic tumor oio:hasExactSynonym adenomatoid odo MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed adenosquamous carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym adenosquamous carcinoma adenosquamous carcinoma Adenosquamous Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed adenosquamous carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym carcinoma, adenosquamous, malignant carcinoma, adenosquamous, malignant CARCINOMA, ADENOSQUAMOUS, MALIGNANT NCIT:C3727 Adenosquamous Carcinoma confirmed carcinoma, adenosquamous, malignant NCIT:C3727 NCIT -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed Adenocarcinoma and Epidermoid Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 NCIT +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid carcinoma mixed adenocarcinoma and epidermoid carcinoma Mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and epidermoid carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and epidermoid cell carcinoma mixed adenocarcinoma and epidermoid cell carcinoma Mixed Adenocarcinoma and Epidermoid Cell Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and epidermoid cell carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous carcinoma mixed adenocarcinoma and squamous carcinoma Mixed Adenocarcinoma and Squamous Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and squamous carcinoma NCIT:C3727 NCIT -MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed Adenocarcinoma and Squamous Cell Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 NCIT MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 NCIT +MONDO:0006074 adenosquamous carcinoma oio:hasExactSynonym mixed adenocarcinoma and squamous cell carcinoma mixed adenocarcinoma and squamous cell carcinoma Mixed Adenocarcinoma and Squamous Cell Carcinoma NCIT:C3727 Adenosquamous Carcinoma confirmed mixed adenocarcinoma and squamous cell carcinoma NCIT:C3727 NCIT MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym MYELOLIPOMA, benign MYELOLIPOMA, benign MYELOLIPOMA, BENIGN NCIT:C3736 Adrenal Gland Myelolipoma confirmed MYELOLIPOMA, benign NCIT:C3736 NCIT MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym Myelolipoma NCIT:C3736 Adrenal Gland Myelolipoma confirmed Myelolipoma NCIT:C3736 NCIT MONDO:0006075 adrenal gland myelolipoma oio:hasExactSynonym adrenal gland myelolipoma adrenal gland myelolipoma Adrenal Gland Myelolipoma NCIT:C3736 Adrenal Gland Myelolipoma confirmed adrenal gland myelolipoma NCIT:C3736 NCIT @@ -92834,8 +92834,8 @@ MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactS MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related lymphoma of primary central nervous system AIDS-related lymphoma of primary central nervous system AIDS-Related Lymphoma of Primary Central Nervous System NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma confirmed AIDS-related lymphoma of primary central nervous system NCIT:C8284 NCIT MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related lymphoma of the primary central nervous system AIDS-related lymphoma of the primary central nervous system AIDS-Related Lymphoma of the Primary Central Nervous System NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma confirmed AIDS-related lymphoma of the primary central nervous system NCIT:C8284 NCIT MONDO:0006078 AIDS-related primary central nervous system lymphoma oio:hasExactSynonym AIDS-related primary CNS lymphoma AIDS-related primary CNS lymphoma AIDS-Related Primary CNS Lymphoma NCIT:C8284 AIDS-Related Primary Central Nervous System Lymphoma confirmed AIDS-related primary CNS lymphoma NCIT:C8284 NCIT -MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic carcinoma NCIT:C7492 Ameloblastic Carcinoma confirmed ameloblastic carcinoma NCIT:C7492 NCIT MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic Carcinoma NCIT:C7492 Ameloblastic Carcinoma confirmed ameloblastic carcinoma NCIT:C7492 NCIT +MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym ameloblastic carcinoma ameloblastic carcinoma Ameloblastic carcinoma NCIT:C7492 Ameloblastic Carcinoma confirmed ameloblastic carcinoma NCIT:C7492 NCIT MONDO:0006079 ameloblastic carcinoma oio:hasExactSynonym odontoma, ameloblastic, malignant odontoma, ameloblastic, malignant ODONTOMA, AMELOBLASTIC, MALIGNANT NCIT:C7492 Ameloblastic Carcinoma confirmed odontoma, ameloblastic, malignant NCIT:C7492 NCIT MONDO:0006081 anal melanoma oio:hasExactSynonym anal malignant melanoma anal malignant melanoma Anal Malignant Melanoma NCIT:C4639 Anal Melanoma confirmed anal malignant melanoma NCIT:C4639 NCIT MONDO:0006081 anal melanoma oio:hasExactSynonym anal melanoma anal melanoma Anal Melanoma NCIT:C4639 Anal Melanoma confirmed anal melanoma NCIT:C4639 NCIT @@ -92881,8 +92881,8 @@ MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical lobular hyperplasia of breast atypical lobular hyperplasia of breast Atypical Lobular Hyperplasia of Breast NCIT:C4730 Breast Atypical Lobular Hyperplasia confirmed atypical lobular hyperplasia of breast NCIT:C4730 NCIT MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym atypical lobular hyperplasia of the breast atypical lobular hyperplasia of the breast Atypical Lobular Hyperplasia of the Breast NCIT:C4730 Breast Atypical Lobular Hyperplasia confirmed atypical lobular hyperplasia of the breast NCIT:C4730 NCIT MONDO:0006098 atypical lobular breast hyperplasia oio:hasExactSynonym ALH NCIT:C4730 Breast Atypical Lobular Hyperplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ALH NCIT:C4730 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma confirmed basaloid carcinoma NCIT:C4121 NCIT MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid carcinoma NCIT:C4121 Basaloid Carcinoma confirmed basaloid carcinoma NCIT:C4121 NCIT +MONDO:0006102 basaloid carcinoma oio:hasExactSynonym basaloid carcinoma basaloid carcinoma Basaloid Carcinoma NCIT:C4121 Basaloid Carcinoma confirmed basaloid carcinoma NCIT:C4121 NCIT MONDO:0006103 benign adrenal gland pheochromocytoma oio:hasExactSynonym benign adrenal gland pheochromocytoma benign adrenal gland pheochromocytoma Benign Adrenal Gland Pheochromocytoma NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma confirmed benign adrenal gland pheochromocytoma NCIT:C48305 NCIT MONDO:0006103 benign adrenal gland pheochromocytoma oio:hasExactSynonym pheochromocytoma, benign pheochromocytoma, benign PHEOCHROMOCYTOMA, BENIGN NCIT:C48305 Non-Metastatic Adrenal Gland Pheochromocytoma confirmed pheochromocytoma, benign NCIT:C48305 NCIT MONDO:0006104 benign carotid body paraganglioma oio:hasExactSynonym benign carotid body paraganglioma benign carotid body paraganglioma Benign Carotid Body Paraganglioma NCIT:C79950 Non-Metastatic Carotid Body Paraganglioma confirmed benign carotid body paraganglioma NCIT:C79950 NCIT @@ -92921,8 +92921,8 @@ MONDO:0006108 bile duct adenoma oio:hasExactSynonym Hepatocholangiocellular ade MONDO:0006108 bile duct adenoma oio:hasExactSynonym Hepatocholangioma NCIT:C2942 Bile Duct Adenoma confirmed Hepatocholangioma NCIT:C2942 NCIT MONDO:0006108 bile duct adenoma oio:hasExactSynonym adenoma of bile duct adenoma of bile duct Adenoma of Bile Duct NCIT:C2942 Bile Duct Adenoma confirmed adenoma of bile duct NCIT:C2942 NCIT MONDO:0006108 bile duct adenoma oio:hasExactSynonym adenoma of the bile duct adenoma of the bile duct Adenoma of the Bile Duct NCIT:C2942 Bile Duct Adenoma confirmed adenoma of the bile duct NCIT:C2942 NCIT -MONDO:0006108 bile duct adenoma oio:hasExactSynonym bile duct adenoma bile duct adenoma Bile Duct Adenoma NCIT:C2942 Bile Duct Adenoma confirmed bile duct adenoma NCIT:C2942 NCIT MONDO:0006108 bile duct adenoma oio:hasExactSynonym bile duct adenoma bile duct adenoma Bile duct adenoma NCIT:C2942 Bile Duct Adenoma confirmed bile duct adenoma NCIT:C2942 NCIT +MONDO:0006108 bile duct adenoma oio:hasExactSynonym bile duct adenoma bile duct adenoma Bile Duct Adenoma NCIT:C2942 Bile Duct Adenoma confirmed bile duct adenoma NCIT:C2942 NCIT MONDO:0006109 malignant biphasic mesothelioma oio:hasExactSynonym biphasic mesothelioma biphasic mesothelioma Biphasic Mesothelioma NCIT:C4282 Biphasic Mesothelioma confirmed biphasic mesothelioma NCIT:C4282 NCIT MONDO:0006109 malignant biphasic mesothelioma oio:hasExactSynonym malignant biphasic mesothelioma malignant biphasic mesothelioma Malignant Biphasic Mesothelioma NCIT:C4282 Biphasic Mesothelioma confirmed malignant biphasic mesothelioma NCIT:C4282 NCIT MONDO:0006109 malignant biphasic mesothelioma oio:hasExactSynonym malignant mixed mesothelioma malignant mixed mesothelioma Malignant Mixed Mesothelioma NCIT:C4282 Biphasic Mesothelioma confirmed malignant mixed mesothelioma NCIT:C4282 NCIT @@ -93075,8 +93075,8 @@ MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym squamous cel MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma of uterine cervix squamous cell carcinoma of uterine cervix Squamous Cell Carcinoma of Uterine Cervix NCIT:C4028 Cervical Squamous Cell Carcinoma confirmed squamous cell carcinoma of uterine cervix NCIT:C4028 NCIT MONDO:0006143 cervical squamous cell carcinoma oio:hasExactSynonym uterine cervix squamous cell carcinoma uterine cervix squamous cell carcinoma Uterine Cervix Squamous Cell Carcinoma NCIT:C4028 Cervical Squamous Cell Carcinoma confirmed uterine cervix squamous cell carcinoma NCIT:C4028 NCIT MONDO:0006144 cervical Wilms tumor oio:hasExactSynonym cervical Wilms tumor cervical Wilms tumor Cervical Wilms Tumor NCIT:C40236 Cervical Wilms Tumor confirmed cervical Wilms tumor NCIT:C40236 NCIT -MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid Chordoma NCIT:C6902 Chondroid Chordoma confirmed chondroid chordoma NCIT:C6902 NCIT MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid chordoma NCIT:C6902 Chondroid Chordoma confirmed chondroid chordoma NCIT:C6902 NCIT +MONDO:0006145 chondroid chordoma oio:hasExactSynonym chondroid chordoma chondroid chordoma Chondroid Chordoma NCIT:C6902 Chondroid Chordoma confirmed chondroid chordoma NCIT:C6902 NCIT MONDO:0006149 clear cell papillary cystadenoma oio:hasExactSynonym clear cell papillary cystadenoma clear cell papillary cystadenoma Clear Cell Papillary Cystadenoma NCIT:C65203 Clear Cell Papillary Cystadenoma confirmed clear cell papillary cystadenoma NCIT:C65203 NCIT MONDO:0006150 colon Burkitt lymphoma oio:hasExactSynonym colon Burkitt lymphoma colon Burkitt lymphoma Colon Burkitt Lymphoma NCIT:C27465 Colon Burkitt Lymphoma confirmed colon Burkitt lymphoma NCIT:C27465 NCIT MONDO:0006150 colon Burkitt lymphoma oio:hasExactSynonym colon Burkitt's lymphoma colon Burkitt's lymphoma Colon Burkitt's Lymphoma NCIT:C27465 Colon Burkitt Lymphoma confirmed colon Burkitt's lymphoma NCIT:C27465 NCIT @@ -93173,8 +93173,8 @@ MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma oio:hasExactS MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma oio:hasExactSynonym digestive system mixed adenoneuroendocrine carcinoma digestive system mixed adenoneuroendocrine carcinoma Digestive System Mixed Adenoneuroendocrine Carcinoma NCIT:C95406 Digestive System Mixed Adenoneuroendocrine Carcinoma confirmed digestive system mixed adenoneuroendocrine carcinoma NCIT:C95406 NCIT MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma oio:hasExactSynonym gastrointestinal MANEC gastrointestinal MANEC Gastrointestinal MANEC NCIT:C95406 Digestive System Mixed Adenoneuroendocrine Carcinoma confirmed gastrointestinal MANEC NCIT:C95406 NCIT MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma oio:hasExactSynonym gastrointestinal mixed Adenoneuroendocrine carcinoma gastrointestinal mixed Adenoneuroendocrine carcinoma Gastrointestinal Mixed Adenoneuroendocrine Carcinoma NCIT:C95406 Digestive System Mixed Adenoneuroendocrine Carcinoma confirmed gastrointestinal mixed Adenoneuroendocrine carcinoma NCIT:C95406 NCIT -MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma oio:hasExactSynonym mixed Adenoneuroendocrine carcinoma mixed Adenoneuroendocrine carcinoma Mixed adenoneuroendocrine carcinoma NCIT:C95406 Digestive System Mixed Adenoneuroendocrine Carcinoma confirmed mixed Adenoneuroendocrine carcinoma NCIT:C95406 NCIT MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma oio:hasExactSynonym mixed Adenoneuroendocrine carcinoma mixed Adenoneuroendocrine carcinoma Mixed Adenoneuroendocrine Carcinoma NCIT:C95406 Digestive System Mixed Adenoneuroendocrine Carcinoma confirmed mixed Adenoneuroendocrine carcinoma NCIT:C95406 NCIT +MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma oio:hasExactSynonym mixed Adenoneuroendocrine carcinoma mixed Adenoneuroendocrine carcinoma Mixed adenoneuroendocrine carcinoma NCIT:C95406 Digestive System Mixed Adenoneuroendocrine Carcinoma confirmed mixed Adenoneuroendocrine carcinoma NCIT:C95406 NCIT MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma oio:hasExactSynonym MANEC NCIT:C95406 Digestive System Mixed Adenoneuroendocrine Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MANEC NCIT:C95406 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0006183 disseminated peritoneal leiomyomatosis oio:hasExactSynonym diffuse peritoneal leiomyomatosis diffuse peritoneal leiomyomatosis Diffuse Peritoneal Leiomyomatosis NCIT:C3958 Disseminated Peritoneal Leiomyomatosis confirmed diffuse peritoneal leiomyomatosis NCIT:C3958 NCIT MONDO:0006183 disseminated peritoneal leiomyomatosis oio:hasExactSynonym disseminated peritoneal leiomyomatosis disseminated peritoneal leiomyomatosis Disseminated Peritoneal Leiomyomatosis NCIT:C3958 Disseminated Peritoneal Leiomyomatosis confirmed disseminated peritoneal leiomyomatosis NCIT:C3958 NCIT @@ -93189,8 +93189,8 @@ MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio: MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio:hasExactSynonym intraductal and lobular breast carcinoma in situ intraductal and lobular breast carcinoma in situ Intraductal and Lobular Breast Carcinoma in situ NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ confirmed intraductal and lobular breast carcinoma in situ NCIT:C4195 NCIT MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio:hasExactSynonym intraductal and lobular carcinoma in situ of breast intraductal and lobular carcinoma in situ of breast Intraductal and Lobular Carcinoma in situ of Breast NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ confirmed intraductal and lobular carcinoma in situ of breast NCIT:C4195 NCIT MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio:hasExactSynonym intraductal and lobular carcinoma in situ of the breast intraductal and lobular carcinoma in situ of the breast Intraductal and Lobular Carcinoma in situ of the Breast NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ confirmed intraductal and lobular carcinoma in situ of the breast NCIT:C4195 NCIT -MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio:hasExactSynonym intraductal carcinoma and lobular carcinoma in situ intraductal carcinoma and lobular carcinoma in situ Intraductal Carcinoma and Lobular Carcinoma in situ NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ confirmed intraductal carcinoma and lobular carcinoma in situ NCIT:C4195 NCIT MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio:hasExactSynonym intraductal carcinoma and lobular carcinoma in situ intraductal carcinoma and lobular carcinoma in situ Intraductal carcinoma and lobular carcinoma in situ NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ confirmed intraductal carcinoma and lobular carcinoma in situ NCIT:C4195 NCIT +MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio:hasExactSynonym intraductal carcinoma and lobular carcinoma in situ intraductal carcinoma and lobular carcinoma in situ Intraductal Carcinoma and Lobular Carcinoma in situ NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ confirmed intraductal carcinoma and lobular carcinoma in situ NCIT:C4195 NCIT MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio:hasExactSynonym non-infiltrating ductal and non-infiltrating lobular breast carcinoma non-infiltrating ductal and non-infiltrating lobular breast carcinoma Non-Infiltrating Ductal and Non-Infiltrating Lobular Breast Carcinoma NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ confirmed non-infiltrating ductal and non-infiltrating lobular breast carcinoma NCIT:C4195 NCIT MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio:hasExactSynonym non-infiltrating ductal with non-infiltrating lobular carcinoma of breast non-infiltrating ductal with non-infiltrating lobular carcinoma of breast Non-Infiltrating Ductal with Non-Infiltrating Lobular Carcinoma of Breast NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ confirmed non-infiltrating ductal with non-infiltrating lobular carcinoma of breast NCIT:C4195 NCIT MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ oio:hasExactSynonym non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast Non-Infiltrating Ductal with Non-Infiltrating Lobular Carcinoma of the Breast NCIT:C4195 Breast Ductal Carcinoma In Situ and Lobular Carcinoma In Situ confirmed non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast NCIT:C4195 NCIT @@ -93393,10 +93393,10 @@ MONDO:0006238 growth hormone-producing pituitary gland adenoma oio:hasExactSynon MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym head and neck paraganglioma head and neck paraganglioma Head and Neck Paraganglioma NCIT:C5327 Head and Neck Paraganglioma confirmed head and neck paraganglioma NCIT:C5327 NCIT MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym paraganglioma of head and neck paraganglioma of head and neck Paraganglioma of Head and Neck NCIT:C5327 Head and Neck Paraganglioma confirmed paraganglioma of head and neck NCIT:C5327 NCIT MONDO:0006239 head and neck paraganglioma oio:hasExactSynonym paraganglioma of the head and neck paraganglioma of the head and neck Paraganglioma of the Head and Neck NCIT:C5327 Head and Neck Paraganglioma confirmed paraganglioma of the head and neck NCIT:C5327 NCIT -MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid adenocarcinoma NCIT:C66950 NCIT MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid Adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid adenocarcinoma NCIT:C66950 NCIT -MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid Carcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid carcinoma NCIT:C66950 NCIT +MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid adenocarcinoma hepatoid adenocarcinoma Hepatoid adenocarcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid adenocarcinoma NCIT:C66950 NCIT MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid carcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid carcinoma NCIT:C66950 NCIT +MONDO:0006243 hepatoid adenocarcinoma oio:hasExactSynonym hepatoid carcinoma hepatoid carcinoma Hepatoid Carcinoma NCIT:C66950 Hepatoid Adenocarcinoma confirmed hepatoid carcinoma NCIT:C66950 NCIT MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym ERBB2 Overexpressing subtype of breast carcinoma ERBB2 Overexpressing subtype of breast carcinoma ERBB2 Overexpressing Subtype of Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma confirmed ERBB2 Overexpressing subtype of breast carcinoma NCIT:C53556 NCIT MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Overexpressing breast carcinoma HER2 Overexpressing breast carcinoma HER2 Overexpressing Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma confirmed HER2 Overexpressing breast carcinoma NCIT:C53556 NCIT MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Overexpressing subtype of breast carcinoma HER2 Overexpressing subtype of breast carcinoma HER2 Overexpressing Subtype of Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma confirmed HER2 Overexpressing subtype of breast carcinoma NCIT:C53556 NCIT @@ -93404,8 +93404,8 @@ MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 Positive MONDO:0006244 HER2 positive breast carcinoma oio:hasExactSynonym HER2 positive breast carcinoma HER2 positive breast carcinoma HER2 Positive Breast Carcinoma NCIT:C53556 HER2-Positive Breast Carcinoma confirmed HER2 positive breast carcinoma NCIT:C53556 NCIT MONDO:0006245 hidradenocarcinoma oio:hasExactSynonym clear cell eccrine carcinoma clear cell eccrine carcinoma Clear Cell Eccrine Carcinoma NCIT:C54664 Hidradenocarcinoma confirmed clear cell eccrine carcinoma NCIT:C54664 NCIT MONDO:0006245 hidradenocarcinoma oio:hasExactSynonym hidradenocarcinoma hidradenocarcinoma Hidradenocarcinoma NCIT:C54664 Hidradenocarcinoma confirmed hidradenocarcinoma NCIT:C54664 NCIT -MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High grade surface osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma confirmed high grade surface osteosarcoma NCIT:C53958 NCIT MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High Grade Surface Osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma confirmed high grade surface osteosarcoma NCIT:C53958 NCIT +MONDO:0006246 high grade surface osteosarcoma oio:hasExactSynonym high grade surface osteosarcoma high grade surface osteosarcoma High grade surface osteosarcoma NCIT:C53958 High Grade Surface Osteosarcoma confirmed high grade surface osteosarcoma NCIT:C53958 NCIT MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and Dendritic cell neoplasms histiocytic and Dendritic cell neoplasms Histiocytic and Dendritic Cell Neoplasms NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm confirmed histiocytic and Dendritic cell neoplasms NCIT:C9294 NCIT MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and Dendritic cell tumors histiocytic and Dendritic cell tumors Histiocytic and Dendritic Cell Tumors NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm confirmed histiocytic and Dendritic cell tumors NCIT:C9294 NCIT MONDO:0006247 histiocytic and dendritic cell neoplasm oio:hasExactSynonym histiocytic and dendritic cell neoplasm histiocytic and dendritic cell neoplasm Histiocytic and Dendritic Cell Neoplasm NCIT:C9294 Histiocytic and Dendritic Cell Neoplasm confirmed histiocytic and dendritic cell neoplasm NCIT:C9294 NCIT @@ -93428,16 +93428,16 @@ MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym invasive breast can MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym invasive breast carcinoma invasive breast carcinoma Invasive Breast Carcinoma NCIT:C9245 Invasive Breast Carcinoma confirmed invasive breast carcinoma NCIT:C9245 NCIT MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym invasive carcinoma of breast invasive carcinoma of breast Invasive Carcinoma of Breast NCIT:C9245 Invasive Breast Carcinoma confirmed invasive carcinoma of breast NCIT:C9245 NCIT MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym invasive carcinoma of the breast invasive carcinoma of the breast Invasive Carcinoma of the Breast NCIT:C9245 Invasive Breast Carcinoma confirmed invasive carcinoma of the breast NCIT:C9245 NCIT -MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym invasive mammary carcinoma invasive mammary carcinoma Invasive mammary carcinoma NCIT:C9245 Invasive Breast Carcinoma confirmed invasive mammary carcinoma NCIT:C9245 NCIT MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym invasive mammary carcinoma invasive mammary carcinoma Invasive Mammary Carcinoma NCIT:C9245 Invasive Breast Carcinoma confirmed invasive mammary carcinoma NCIT:C9245 NCIT +MONDO:0006256 invasive breast carcinoma oio:hasExactSynonym invasive mammary carcinoma invasive mammary carcinoma Invasive mammary carcinoma NCIT:C9245 Invasive Breast Carcinoma confirmed invasive mammary carcinoma NCIT:C9245 NCIT MONDO:0006257 jejunal neuroendocrine tumor G1 oio:hasExactSynonym jejunal NET G1 jejunal NET G1 Jejunal NET G1 NCIT:C6429 Jejunal Neuroendocrine Tumor G1 confirmed jejunal NET G1 NCIT:C6429 NCIT MONDO:0006258 juvenile polyp oio:hasExactSynonym juvenile polyp juvenile polyp Juvenile Polyp NCIT:C3826 Juvenile Polyp confirmed juvenile polyp NCIT:C3826 NCIT MONDO:0006258 juvenile polyp oio:hasExactSynonym retention polyp retention polyp Retention Polyp NCIT:C3826 Juvenile Polyp confirmed retention polyp NCIT:C3826 NCIT -MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym Renal Medullary Carcinoma NCIT:C7572 Kidney Medullary Carcinoma confirmed Renal Medullary Carcinoma NCIT:C7572 NCIT MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym Renal Medullary Carcinoma Renal Medullary Carcinoma Renal medullary carcinoma NCIT:C7572 Kidney Medullary Carcinoma confirmed Renal Medullary Carcinoma NCIT:C7572 NCIT +MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym Renal Medullary Carcinoma NCIT:C7572 Kidney Medullary Carcinoma confirmed Renal Medullary Carcinoma NCIT:C7572 NCIT MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym kidney medullary carcinoma kidney medullary carcinoma Kidney Medullary Carcinoma NCIT:C7572 Kidney Medullary Carcinoma confirmed kidney medullary carcinoma NCIT:C7572 NCIT -MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym renal medullary carcinoma renal medullary carcinoma Renal Medullary Carcinoma NCIT:C7572 Kidney Medullary Carcinoma confirmed renal medullary carcinoma NCIT:C7572 NCIT MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym renal medullary carcinoma renal medullary carcinoma Renal medullary carcinoma NCIT:C7572 Kidney Medullary Carcinoma confirmed renal medullary carcinoma NCIT:C7572 NCIT +MONDO:0006260 kidney medullary carcinoma oio:hasExactSynonym renal medullary carcinoma renal medullary carcinoma Renal Medullary Carcinoma NCIT:C7572 Kidney Medullary Carcinoma confirmed renal medullary carcinoma NCIT:C7572 NCIT MONDO:0006262 lacrimal gland adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma of lacrimal gland adenoid cystic carcinoma of lacrimal gland Adenoid Cystic Carcinoma of Lacrimal Gland NCIT:C4540 Lacrimal Gland Adenoid Cystic Carcinoma confirmed adenoid cystic carcinoma of lacrimal gland NCIT:C4540 NCIT MONDO:0006262 lacrimal gland adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma of the lacrimal gland adenoid cystic carcinoma of the lacrimal gland Adenoid Cystic Carcinoma of the Lacrimal Gland NCIT:C4540 Lacrimal Gland Adenoid Cystic Carcinoma confirmed adenoid cystic carcinoma of the lacrimal gland NCIT:C4540 NCIT MONDO:0006262 lacrimal gland adenoid cystic carcinoma oio:hasExactSynonym lacrimal gland adenoid cystic carcinoma lacrimal gland adenoid cystic carcinoma Lacrimal Gland Adenoid Cystic Carcinoma NCIT:C4540 Lacrimal Gland Adenoid Cystic Carcinoma confirmed lacrimal gland adenoid cystic carcinoma NCIT:C4540 NCIT @@ -93596,8 +93596,8 @@ MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym mediast MONDO:0006298 mediastinal malignant germ cell tumor oio:hasExactSynonym thymic malignant germ cell tumor thymic malignant germ cell tumor Thymic Malignant Germ Cell Tumor NCIT:C6446 Malignant Mediastinal Germ Cell Tumor confirmed thymic malignant germ cell tumor NCIT:C6446 NCIT MONDO:0006300 medullomyoblastoma with myogenic differentiation oio:hasExactSynonym medullomyoblastoma medullomyoblastoma Medullomyoblastoma NCIT:C3706 Medullomyoblastoma confirmed medullomyoblastoma NCIT:C3706 NCIT MONDO:0006300 medullomyoblastoma with myogenic differentiation oio:hasExactSynonym medullomyoblastoma with myogenic differentiation medullomyoblastoma with myogenic differentiation Medullomyoblastoma with Myogenic Differentiation NCIT:C3706 Medullomyoblastoma confirmed medullomyoblastoma with myogenic differentiation NCIT:C3706 NCIT -MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric Adenoma NCIT:C27253 Metanephric Adenoma confirmed metanephric adenoma NCIT:C27253 NCIT MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric adenoma NCIT:C27253 Metanephric Adenoma confirmed metanephric adenoma NCIT:C27253 NCIT +MONDO:0006301 metanephric adenoma oio:hasExactSynonym metanephric adenoma metanephric adenoma Metanephric Adenoma NCIT:C27253 Metanephric Adenoma confirmed metanephric adenoma NCIT:C27253 NCIT MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of middle Ear epidermoid carcinoma of middle Ear Epidermoid Carcinoma of Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma confirmed epidermoid carcinoma of middle Ear NCIT:C6086 NCIT MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of the middle Ear epidermoid carcinoma of the middle Ear Epidermoid Carcinoma of the Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma confirmed epidermoid carcinoma of the middle Ear NCIT:C6086 NCIT MONDO:0006303 middle ear squamous cell carcinoma oio:hasExactSynonym epidermoid carcinoma of the middle ear epidermoid carcinoma of the middle ear Epidermoid Carcinoma of the Middle Ear NCIT:C6086 Middle Ear Squamous Cell Carcinoma confirmed epidermoid carcinoma of the middle ear NCIT:C6086 NCIT @@ -93634,8 +93634,8 @@ MONDO:0006314 nasal cavity polyp oio:hasExactSynonym nasal polyp nasal polyp Na MONDO:0006314 nasal cavity polyp oio:hasExactSynonym polyp of nasal cavity polyp of nasal cavity Polyp of Nasal Cavity NCIT:C3256 Nasal Cavity Polyp confirmed polyp of nasal cavity NCIT:C3256 NCIT MONDO:0006314 nasal cavity polyp oio:hasExactSynonym polyp of the nasal cavity polyp of the nasal cavity Polyp of the Nasal Cavity NCIT:C3256 Nasal Cavity Polyp confirmed polyp of the nasal cavity NCIT:C3256 NCIT MONDO:0006316 neuroblastic tumor oio:hasExactSynonym neuroblastic tumor neuroblastic tumor Neuroblastic Tumor NCIT:C6963 Neuroblastic Tumor confirmed neuroblastic tumor NCIT:C6963 NCIT -MONDO:0006317 neurothekeoma oio:hasExactSynonym nerve sheath Myxoma nerve sheath Myxoma Nerve Sheath Myxoma NCIT:C7018 Nerve Sheath Myxoma confirmed nerve sheath Myxoma NCIT:C7018 NCIT MONDO:0006317 neurothekeoma oio:hasExactSynonym nerve sheath Myxoma nerve sheath Myxoma Nerve sheath myxoma NCIT:C7018 Nerve Sheath Myxoma confirmed nerve sheath Myxoma NCIT:C7018 NCIT +MONDO:0006317 neurothekeoma oio:hasExactSynonym nerve sheath Myxoma nerve sheath Myxoma Nerve Sheath Myxoma NCIT:C7018 Nerve Sheath Myxoma confirmed nerve sheath Myxoma NCIT:C7018 NCIT MONDO:0006317 neurothekeoma oio:hasExactSynonym neurothekeoma neurothekeoma Neurothekeoma NCIT:C7018 Nerve Sheath Myxoma confirmed neurothekeoma NCIT:C7018 NCIT MONDO:0006320 non-cutaneous melanoma oio:hasExactSynonym extracutaneous melanoma extracutaneous melanoma Extracutaneous Melanoma NCIT:C8711 Non-Cutaneous Melanoma confirmed extracutaneous melanoma NCIT:C8711 NCIT MONDO:0006320 non-cutaneous melanoma oio:hasExactSynonym non-cutaneous melanoma non-cutaneous melanoma Non-Cutaneous Melanoma NCIT:C8711 Non-Cutaneous Melanoma confirmed non-cutaneous melanoma NCIT:C8711 NCIT @@ -93719,8 +93719,8 @@ MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic ne MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary cystic tumor NCIT:C4179 Papillary Cystic Neoplasm confirmed papillary cystic tumor NCIT:C4179 NCIT MONDO:0006349 papillary cystic neoplasm oio:hasExactSynonym papillary cystic tumor papillary cystic tumor Papillary Cystic Tumor NCIT:C4179 Papillary Cystic Neoplasm confirmed papillary cystic tumor NCIT:C4179 NCIT MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional carcinoma papillary transitional carcinoma Papillary Transitional Carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma confirmed papillary transitional carcinoma NCIT:C4122 NCIT -MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary Transitional Cell Carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma confirmed papillary transitional cell carcinoma NCIT:C4122 NCIT MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary transitional cell carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma confirmed papillary transitional cell carcinoma NCIT:C4122 NCIT +MONDO:0006350 papillary transitional cell carcinoma oio:hasExactSynonym papillary transitional cell carcinoma papillary transitional cell carcinoma Papillary Transitional Cell Carcinoma NCIT:C4122 Papillary Transitional Cell Carcinoma confirmed papillary transitional cell carcinoma NCIT:C4122 NCIT MONDO:0006351 parachordoma oio:hasExactSynonym parachordoma parachordoma Parachordoma NCIT:C6581 Parachordoma confirmed parachordoma NCIT:C6581 NCIT MONDO:0006352 paranasal sinus adenoid cystic carcinoma oio:hasExactSynonym accessory sinus adenoid cystic carcinoma accessory sinus adenoid cystic carcinoma Accessory Sinus Adenoid Cystic Carcinoma NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma confirmed accessory sinus adenoid cystic carcinoma NCIT:C6019 NCIT MONDO:0006352 paranasal sinus adenoid cystic carcinoma oio:hasExactSynonym adenoid cystic carcinoma of accessory sinus adenoid cystic carcinoma of accessory sinus Adenoid Cystic Carcinoma of Accessory Sinus NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma confirmed adenoid cystic carcinoma of accessory sinus NCIT:C6019 NCIT @@ -93774,8 +93774,8 @@ MONDO:0006367 pharyngeal adenoid cystic carcinoma oio:hasExactSynonym pharyngea MONDO:0006367 pharyngeal adenoid cystic carcinoma oio:hasExactSynonym pharynx adenoid cystic carcinoma pharynx adenoid cystic carcinoma Pharynx Adenoid Cystic Carcinoma NCIT:C5818 Pharyngeal Adenoid Cystic Carcinoma confirmed pharynx adenoid cystic carcinoma NCIT:C5818 NCIT MONDO:0006368 phosphaturic mesenchymal tumor oio:hasExactSynonym phosphaturic mesenchymal tumor phosphaturic mesenchymal tumor Phosphaturic Mesenchymal Tumor NCIT:C67237 Phosphaturic Mesenchymal Tumor confirmed phosphaturic mesenchymal tumor NCIT:C67237 NCIT MONDO:0006368 phosphaturic mesenchymal tumor oio:hasExactSynonym phosphaturic mesenchymal tumor, mixed connective tissue type phosphaturic mesenchymal tumor, mixed connective tissue type Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Type NCIT:C67237 Phosphaturic Mesenchymal Tumor confirmed phosphaturic mesenchymal tumor, mixed connective tissue type NCIT:C67237 NCIT -MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal Tumor of Intermediate Differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation confirmed pineal parenchymal tumor of intermediate differentiation NCIT:C6967 NCIT MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal parenchymal tumor of intermediate differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation confirmed pineal parenchymal tumor of intermediate differentiation NCIT:C6967 NCIT +MONDO:0006369 pineal parenchymal tumor of intermediate differentiation oio:hasExactSynonym pineal parenchymal tumor of intermediate differentiation pineal parenchymal tumor of intermediate differentiation Pineal Parenchymal Tumor of Intermediate Differentiation NCIT:C6967 Pineal Parenchymal Tumor of Intermediate Differentiation confirmed pineal parenchymal tumor of intermediate differentiation NCIT:C6967 NCIT MONDO:0006372 pituicytoma oio:hasExactSynonym pituicytoma pituicytoma Pituicytoma NCIT:C94524 Pituicytoma confirmed pituicytoma NCIT:C94524 NCIT MONDO:0006372 pituicytoma oio:hasExactSynonym pituicytoma (WHO grade I) pituicytoma (WHO grade I) Pituicytoma (WHO Grade I) NCIT:C94524 Pituicytoma confirmed pituicytoma (WHO grade I) NCIT:C94524 NCIT MONDO:0006372 pituicytoma oio:hasExactSynonym posterior pituitary astrocytoma posterior pituitary astrocytoma Posterior Pituitary Astrocytoma NCIT:C94524 Pituicytoma confirmed posterior pituitary astrocytoma NCIT:C94524 NCIT @@ -93795,8 +93795,8 @@ MONDO:0006375 placental hemangioma oio:hasExactSynonym placental hemangioma pla MONDO:0006377 pleural biphasic mesothelioma oio:hasExactSynonym pleural biphasic mesothelioma pleural biphasic mesothelioma Pleural Biphasic Mesothelioma NCIT:C45665 Pleural Biphasic Mesothelioma confirmed pleural biphasic mesothelioma NCIT:C45665 NCIT MONDO:0006378 pleural epithelioid mesothelioma oio:hasExactSynonym pleural epithelioid mesothelioma pleural epithelioid mesothelioma Pleural Epithelioid Mesothelioma NCIT:C45662 Pleural Epithelioid Mesothelioma confirmed pleural epithelioid mesothelioma NCIT:C45662 NCIT MONDO:0006380 pleural sarcomatoid mesothelioma oio:hasExactSynonym pleural sarcomatoid mesothelioma pleural sarcomatoid mesothelioma Pleural Sarcomatoid Mesothelioma NCIT:C45663 Pleural Sarcomatoid Mesothelioma confirmed pleural sarcomatoid mesothelioma NCIT:C45663 NCIT -MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed insular carcinoma NCIT:C6040 NCIT MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed insular carcinoma NCIT:C6040 NCIT +MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym insular carcinoma insular carcinoma Insular carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed insular carcinoma NCIT:C6040 NCIT MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated carcinoma of the thyroid gland poorly differentiated carcinoma of the thyroid gland Poorly Differentiated Carcinoma of the Thyroid Gland NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed poorly differentiated carcinoma of the thyroid gland NCIT:C6040 NCIT MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated carcinoma of thyroid gland poorly differentiated carcinoma of thyroid gland Poorly Differentiated Carcinoma of Thyroid Gland NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed poorly differentiated carcinoma of thyroid gland NCIT:C6040 NCIT MONDO:0006382 poorly differentiated thyroid gland carcinoma oio:hasExactSynonym poorly differentiated thyroid carcinoma poorly differentiated thyroid carcinoma Poorly Differentiated Thyroid Carcinoma NCIT:C6040 Poorly Differentiated Thyroid Gland Carcinoma confirmed poorly differentiated thyroid carcinoma NCIT:C6040 NCIT @@ -93902,8 +93902,8 @@ MONDO:0006404 salivary gland large cell carcinoma oio:hasExactSynonym salivary MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym carcinoma, spindle cell, malignant carcinoma, spindle cell, malignant CARCINOMA, SPINDLE CELL, MALIGNANT NCIT:C27004 Sarcomatoid Carcinoma confirmed carcinoma, spindle cell, malignant NCIT:C27004 NCIT MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous Carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed pseudosarcomatous carcinoma NCIT:C27004 NCIT MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym pseudosarcomatous carcinoma pseudosarcomatous carcinoma Pseudosarcomatous carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed pseudosarcomatous carcinoma NCIT:C27004 NCIT -MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed sarcomatoid carcinoma NCIT:C27004 NCIT MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid Carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed sarcomatoid carcinoma NCIT:C27004 NCIT +MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym sarcomatoid carcinoma sarcomatoid carcinoma Sarcomatoid carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed sarcomatoid carcinoma NCIT:C27004 NCIT MONDO:0006406 sarcomatoid carcinoma oio:hasExactSynonym spindle cell carcinoma spindle cell carcinoma Spindle Cell Carcinoma NCIT:C27004 Sarcomatoid Carcinoma confirmed spindle cell carcinoma NCIT:C27004 NCIT MONDO:0006407 sarcomatoid mesothelioma oio:hasExactSynonym sarcomatoid mesothelioma sarcomatoid mesothelioma Sarcomatoid mesothelioma NCIT:C45655 Sarcomatoid Mesothelioma confirmed sarcomatoid mesothelioma NCIT:C45655 NCIT MONDO:0006407 sarcomatoid mesothelioma oio:hasExactSynonym sarcomatoid mesothelioma sarcomatoid mesothelioma Sarcomatoid Mesothelioma NCIT:C45655 Sarcomatoid Mesothelioma confirmed sarcomatoid mesothelioma NCIT:C45655 NCIT @@ -94039,8 +94039,8 @@ MONDO:0006458 thymoma type B3 oio:hasExactSynonym epithelial thymoma epithelial MONDO:0006458 thymoma type B3 oio:hasExactSynonym malignant thymoma type B3 malignant thymoma type B3 Malignant Thymoma Type B3 NCIT:C7997 Thymoma Type B3 confirmed malignant thymoma type B3 NCIT:C7997 NCIT MONDO:0006458 thymoma type B3 oio:hasExactSynonym squamoid thymoma squamoid thymoma Squamoid Thymoma NCIT:C7997 Thymoma Type B3 confirmed squamoid thymoma NCIT:C7997 NCIT MONDO:0006458 thymoma type B3 oio:hasExactSynonym thymoma type B3 thymoma type B3 Thymoma Type B3 NCIT:C7997 Thymoma Type B3 confirmed thymoma type B3 NCIT:C7997 NCIT -MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well differentiated thymic carcinoma NCIT:C7997 Thymoma Type B3 confirmed well differentiated thymic carcinoma NCIT:C7997 NCIT MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well Differentiated Thymic Carcinoma NCIT:C7997 Thymoma Type B3 confirmed well differentiated thymic carcinoma NCIT:C7997 NCIT +MONDO:0006458 thymoma type B3 oio:hasExactSynonym well differentiated thymic carcinoma well differentiated thymic carcinoma Well differentiated thymic carcinoma NCIT:C7997 Thymoma Type B3 confirmed well differentiated thymic carcinoma NCIT:C7997 NCIT MONDO:0006458 thymoma type B3 oio:hasExactSynonym well-differentiated thymic carcinoma well-differentiated thymic carcinoma Well-Differentiated Thymic Carcinoma NCIT:C7997 Thymoma Type B3 confirmed well-differentiated thymic carcinoma NCIT:C7997 NCIT MONDO:0006459 thymoma type B1 oio:hasExactSynonym lymphocyte-predominant thymoma lymphocyte-predominant thymoma Lymphocyte-Predominant Thymoma NCIT:C6887 Thymoma Type B1 confirmed lymphocyte-predominant thymoma NCIT:C6887 NCIT MONDO:0006459 thymoma type B1 oio:hasExactSynonym lymphocyte-rich thymoma lymphocyte-rich thymoma Lymphocyte-Rich Thymoma NCIT:C6887 Thymoma Type B1 confirmed lymphocyte-rich thymoma NCIT:C6887 NCIT @@ -94177,8 +94177,8 @@ MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym adenomatous polyp of MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym adenomatous polyp of the colon adenomatous polyp of the colon Adenomatous Polyp of the Colon NCIT:C96479 Colon Adenomatous Polyp confirmed adenomatous polyp of the colon NCIT:C96479 NCIT MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym colon adenomatous polyp colon adenomatous polyp Colon Adenomatous Polyp NCIT:C96479 Colon Adenomatous Polyp confirmed colon adenomatous polyp NCIT:C96479 NCIT MONDO:0006498 adenomatous colon polyp oio:hasExactSynonym colonic adenomatous polyp colonic adenomatous polyp Colonic Adenomatous Polyp NCIT:C96479 Colon Adenomatous Polyp confirmed colonic adenomatous polyp NCIT:C96479 NCIT -MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma HAMARTOMA NCIT:C3075 Hamartoma confirmed hamartoma NCIT:C3075 NCIT MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma Hamartoma NCIT:C3075 Hamartoma confirmed hamartoma NCIT:C3075 NCIT +MONDO:0006499 hamartoma oio:hasExactSynonym hamartoma hamartoma HAMARTOMA NCIT:C3075 Hamartoma confirmed hamartoma NCIT:C3075 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym benign hemangioma benign hemangioma Benign Hemangioma NCIT:C3085 Hemangioma confirmed benign hemangioma NCIT:C3085 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym hemangioma hemangioma Hemangioma NCIT:C3085 Hemangioma confirmed hemangioma NCIT:C3085 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym hemangioma, benign hemangioma, benign HEMANGIOMA, BENIGN NCIT:C3085 Hemangioma confirmed hemangioma, benign NCIT:C3085 NCIT @@ -94244,8 +94244,8 @@ MONDO:0006558 pemphigoid gestationis oio:hasExactSynonym Herpes gestationis Her MONDO:0006563 inverted follicular keratosis oio:hasExactSynonym inverted follicular keratosis inverted follicular keratosis Inverted Follicular Keratosis NCIT:C9007 Inverted Follicular Keratosis confirmed inverted follicular keratosis NCIT:C9007 NCIT MONDO:0006564 irritant dermatitis oio:hasExactSynonym irritant contact dermatitis irritant contact dermatitis Irritant Contact Dermatitis NCIT:C27151 Irritant Contact Dermatitis confirmed irritant contact dermatitis NCIT:C27151 NCIT MONDO:0006566 keratosis oio:hasExactSynonym keratoderma keratoderma Keratoderma NCIT:C34745 Keratoderma confirmed keratoderma NCIT:C34745 NCIT -MONDO:0006567 kernicterus due to isoimmunization oio:hasExactSynonym kernicterus related to isoimmunization kernicterus related to isoimmunization Kernicterus related to Isoimmunization NCIT:C101270 Kernicterus Related to Isoimmunization confirmed kernicterus related to isoimmunization NCIT:C101270 NCIT MONDO:0006567 kernicterus due to isoimmunization oio:hasExactSynonym kernicterus related to isoimmunization kernicterus related to isoimmunization Kernicterus Related to Isoimmunization NCIT:C101270 Kernicterus Related to Isoimmunization confirmed kernicterus related to isoimmunization NCIT:C101270 NCIT +MONDO:0006567 kernicterus due to isoimmunization oio:hasExactSynonym kernicterus related to isoimmunization kernicterus related to isoimmunization Kernicterus related to Isoimmunization NCIT:C101270 Kernicterus Related to Isoimmunization confirmed kernicterus related to isoimmunization NCIT:C101270 NCIT MONDO:0006573 lipodystrophy oio:hasExactSynonym lipodsystrophic syndromes lipodsystrophic syndromes Lipodsystrophic Syndromes NCIT:C97093 Lipodystrophy confirmed lipodsystrophic syndromes NCIT:C97093 NCIT MONDO:0006573 lipodystrophy oio:hasExactSynonym lipodystrophy lipodystrophy Lipodystrophy NCIT:C97093 Lipodystrophy confirmed lipodystrophy NCIT:C97093 NCIT MONDO:0006574 lipomatosis oio:hasExactSynonym Launois-Bensaude syndrome Launois-Bensaude syndrome Launois-Bensaude Syndrome NCIT:C3193 Lipomatosis confirmed Launois-Bensaude syndrome NCIT:C3193 NCIT @@ -94264,8 +94264,8 @@ MONDO:0006589 occupational dermatitis oio:hasExactSynonym occupational dermatit MONDO:0006590 palmoplantar keratosis oio:hasExactSynonym palmoplantar keratoderma palmoplantar keratoderma Palmoplantar Keratoderma NCIT:C34748 Palmoplantar Keratoderma confirmed palmoplantar keratoderma NCIT:C34748 NCIT MONDO:0006591 panniculitis oio:hasExactSynonym Subcutaneous adipose tissue Subcutaneous adipose tissue Subcutaneous Adipose Tissue NCIT:C33645 Subcutis confirmed Subcutaneous adipose tissue NCIT:C33645 NCIT MONDO:0006591 panniculitis oio:hasExactSynonym Subcutaneous tissue Subcutaneous tissue Subcutaneous Tissue NCIT:C33645 Subcutis confirmed Subcutaneous tissue NCIT:C33645 NCIT -MONDO:0006591 panniculitis oio:hasExactSynonym subcutis subcutis Subcutis NCIT:C33645 Subcutis confirmed subcutis NCIT:C33645 NCIT MONDO:0006591 panniculitis oio:hasExactSynonym subcutis subcutis SUBCUTIS NCIT:C33645 Subcutis confirmed subcutis NCIT:C33645 NCIT +MONDO:0006591 panniculitis oio:hasExactSynonym subcutis subcutis Subcutis NCIT:C33645 Subcutis confirmed subcutis NCIT:C33645 NCIT MONDO:0006593 pelvic lipomatosis oio:hasExactSynonym pelvic lipomatosis pelvic lipomatosis Pelvic Lipomatosis NCIT:C27486 Pelvic Lipomatosis confirmed pelvic lipomatosis NCIT:C27486 NCIT MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym Photodermatitis NCIT:C4816 Photosensitive Dermatitis confirmed Photodermatitis NCIT:C4816 NCIT MONDO:0006598 phototoxic dermatitis oio:hasExactSynonym photosensitive dermatitis photosensitive dermatitis Photosensitive Dermatitis NCIT:C4816 Photosensitive Dermatitis confirmed photosensitive dermatitis NCIT:C4816 NCIT @@ -94300,8 +94300,8 @@ MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortex adeno MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortex carcinoma adrenal cortex carcinoma Adrenal Cortex Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortex carcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal Cortical Adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical adenocarcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical adenocarcinoma adrenal cortical adenocarcinoma Adrenal cortical adenocarcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical adenocarcinoma NCIT:C9325 NCIT -MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal Cortical Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical carcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal cortical carcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical carcinoma NCIT:C9325 NCIT +MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenal cortical carcinoma adrenal cortical carcinoma Adrenal Cortical Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenal cortical carcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym adrenocortical carcinoma adrenocortical carcinoma Adrenocortical Carcinoma NCIT:C9325 Adrenal Cortical Carcinoma confirmed adrenocortical carcinoma NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym carcinoma of adrenal cortex carcinoma of adrenal cortex Carcinoma of Adrenal Cortex NCIT:C9325 Adrenal Cortical Carcinoma confirmed carcinoma of adrenal cortex NCIT:C9325 NCIT MONDO:0006639 adrenal cortex carcinoma oio:hasExactSynonym carcinoma of the adrenal cortex carcinoma of the adrenal cortex Carcinoma of the Adrenal Cortex NCIT:C9325 Adrenal Cortical Carcinoma confirmed carcinoma of the adrenal cortex NCIT:C9325 NCIT @@ -94311,8 +94311,8 @@ MONDO:0006643 alcoholic cardiomyopathy oio:hasExactSynonym alcoholic cardiomyop MONDO:0006644 alcoholic liver cirrhosis oio:hasExactSynonym alcoholic cirrhosis alcoholic cirrhosis Alcoholic Cirrhosis NCIT:C34782 Alcoholic Cirrhosis confirmed alcoholic cirrhosis NCIT:C34782 NCIT MONDO:0006646 angioleiomyoma oio:hasExactSynonym angioleiomyoma angioleiomyoma Angioleiomyoma NCIT:C3747 Angioleiomyoma confirmed angioleiomyoma NCIT:C3747 NCIT MONDO:0006646 angioleiomyoma oio:hasExactSynonym angiomyoma angiomyoma Angiomyoma NCIT:C3747 Angioleiomyoma confirmed angiomyoma NCIT:C3747 NCIT -MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular leiomyoma NCIT:C3747 Angioleiomyoma confirmed vascular leiomyoma NCIT:C3747 NCIT MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular Leiomyoma NCIT:C3747 Angioleiomyoma confirmed vascular leiomyoma NCIT:C3747 NCIT +MONDO:0006646 angioleiomyoma oio:hasExactSynonym vascular leiomyoma vascular leiomyoma Vascular leiomyoma NCIT:C3747 Angioleiomyoma confirmed vascular leiomyoma NCIT:C3747 NCIT MONDO:0006651 anterior uveitis oio:hasExactSynonym anterior uveitis anterior uveitis Anterior Uveitis NCIT:C35109 Anterior Uveitis confirmed anterior uveitis NCIT:C35109 NCIT MONDO:0006654 anthracosis oio:hasExactSynonym coal miner's pneumoconiosis coal miner's pneumoconiosis Coal Miner's Pneumoconiosis NCIT:C34390 Anthracosis confirmed coal miner's pneumoconiosis NCIT:C34390 NCIT MONDO:0006660 arthus reaction oio:hasExactSynonym arthus phenomenon arthus phenomenon Arthus Phenomenon NCIT:C34400 Arthus Reaction confirmed arthus phenomenon NCIT:C34400 NCIT @@ -94436,8 +94436,8 @@ MONDO:0006804 inflammatory breast carcinoma oio:hasExactSynonym mastitis Carcin MONDO:0006804 inflammatory breast carcinoma oio:hasExactSynonym mastitis carcinomatosa mastitis carcinomatosa Mastitis Carcinomatosa NCIT:C4001 Breast Inflammatory Carcinoma confirmed mastitis carcinomatosa NCIT:C4001 NCIT MONDO:0006806 intermediate uveitis oio:hasExactSynonym intermediate uveitis intermediate uveitis Intermediate Uveitis NCIT:C35110 Intermediate Uveitis confirmed intermediate uveitis NCIT:C35110 NCIT MONDO:0006807 intestinal perforation oio:hasExactSynonym perforation of intestine perforation of intestine Perforation of Intestine NCIT:C39611 Intestinal Perforation confirmed perforation of intestine NCIT:C39611 NCIT -MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal nevus NCIT:C3804 Dermal Nevus confirmed dermal Nevus NCIT:C3804 NCIT MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal Nevus NCIT:C3804 Dermal Nevus confirmed dermal Nevus NCIT:C3804 NCIT +MONDO:0006813 intradermal nevus oio:hasExactSynonym dermal Nevus dermal Nevus Dermal nevus NCIT:C3804 Dermal Nevus confirmed dermal Nevus NCIT:C3804 NCIT MONDO:0006814 iritis oio:hasExactSynonym iritis iritis Iritis NCIT:C50621 Iritis confirmed iritis NCIT:C50621 NCIT MONDO:0006816 arthropathy oio:hasExactSynonym Joint disorder Joint disorder Joint Disorder NCIT:C35760 Arthropathy confirmed Joint disorder NCIT:C35760 NCIT MONDO:0006816 arthropathy oio:hasExactSynonym arthropathy arthropathy Arthropathy NCIT:C35760 Arthropathy confirmed arthropathy NCIT:C35760 NCIT @@ -94489,8 +94489,8 @@ MONDO:0006850 maxillary sinus neoplasm oio:hasExactSynonym tumor of the maxilla MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym meconium aspiration syndrome meconium aspiration syndrome Meconium Aspiration Syndrome NCIT:C87093 Meconium Aspiration Syndrome confirmed meconium aspiration syndrome NCIT:C87093 NCIT MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym neonatal aspiration of meconium neonatal aspiration of meconium Neonatal Aspiration of Meconium NCIT:C87093 Meconium Aspiration Syndrome confirmed neonatal aspiration of meconium NCIT:C87093 NCIT MONDO:0006851 meconium aspiration syndrome oio:hasExactSynonym MAS NCIT:C87093 Meconium Aspiration Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C87093 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma confirmed mesenchymal chondrosarcoma NCIT:C3737 NCIT MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal Chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma confirmed mesenchymal chondrosarcoma NCIT:C3737 NCIT +MONDO:0006853 mesenchymal chondrosarcoma oio:hasExactSynonym mesenchymal chondrosarcoma mesenchymal chondrosarcoma Mesenchymal chondrosarcoma NCIT:C3737 Mesenchymal Chondrosarcoma confirmed mesenchymal chondrosarcoma NCIT:C3737 NCIT MONDO:0006854 mesenchymoma oio:hasExactSynonym mesenchymoma mesenchymoma Mesenchymoma NCIT:C3233 Mesenchymoma confirmed mesenchymoma NCIT:C3233 NCIT MONDO:0006856 mesothelial neoplasm oio:hasExactSynonym mesothelial neoplasm mesothelial neoplasm Mesothelial Neoplasm NCIT:C3786 Mesothelial Neoplasm confirmed mesothelial neoplasm NCIT:C3786 NCIT MONDO:0006856 mesothelial neoplasm oio:hasExactSynonym mesothelial tumor mesothelial tumor Mesothelial Tumor NCIT:C3786 Mesothelial Neoplasm confirmed mesothelial tumor NCIT:C3786 NCIT @@ -94505,8 +94505,8 @@ MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym mucinous cystoma mucinou MONDO:0006859 mucinous cystadenoma oio:hasExactSynonym pseudomucinous cystadenoma pseudomucinous cystadenoma Pseudomucinous Cystadenoma NCIT:C2973 Mucinous Cystadenoma confirmed pseudomucinous cystadenoma NCIT:C2973 NCIT MONDO:0006861 myeloid sarcoma oio:hasExactSynonym chloroma chloroma Chloroma NCIT:C3520 Myeloid Sarcoma confirmed chloroma NCIT:C3520 NCIT MONDO:0006861 myeloid sarcoma oio:hasExactSynonym extramedullary myeloid tumor extramedullary myeloid tumor Extramedullary Myeloid Tumor NCIT:C3520 Myeloid Sarcoma confirmed extramedullary myeloid tumor NCIT:C3520 NCIT -MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid Sarcoma NCIT:C3520 Myeloid Sarcoma confirmed myeloid sarcoma NCIT:C3520 NCIT MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid sarcoma NCIT:C3520 Myeloid Sarcoma confirmed myeloid sarcoma NCIT:C3520 NCIT +MONDO:0006861 myeloid sarcoma oio:hasExactSynonym myeloid sarcoma myeloid sarcoma Myeloid Sarcoma NCIT:C3520 Myeloid Sarcoma confirmed myeloid sarcoma NCIT:C3520 NCIT MONDO:0006861 myeloid sarcoma oio:hasExactSynonym sarcoma, myeloid, malignant sarcoma, myeloid, malignant SARCOMA, MYELOID, MALIGNANT NCIT:C3520 Myeloid Sarcoma confirmed sarcoma, myeloid, malignant NCIT:C3520 NCIT MONDO:0006863 myxosarcoma oio:hasExactSynonym myxosarcoma myxosarcoma Myxosarcoma NCIT:C3255 Myxosarcoma confirmed myxosarcoma NCIT:C3255 NCIT MONDO:0006863 myxosarcoma oio:hasExactSynonym myxosarcoma, malignant myxosarcoma, malignant MYXOSARCOMA, MALIGNANT NCIT:C3255 Myxosarcoma confirmed myxosarcoma, malignant NCIT:C3255 NCIT @@ -94564,8 +94564,8 @@ MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym adenocarcinoma, seba MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym carcinoma of sebaceous gland carcinoma of sebaceous gland Carcinoma of Sebaceous Gland NCIT:C40310 Sebaceous Carcinoma confirmed carcinoma of sebaceous gland NCIT:C40310 NCIT MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym carcinoma of the sebaceous gland carcinoma of the sebaceous gland Carcinoma of the Sebaceous Gland NCIT:C40310 Sebaceous Carcinoma confirmed carcinoma of the sebaceous gland NCIT:C40310 NCIT MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym sebaceous cancer sebaceous cancer Sebaceous Cancer NCIT:C40310 Sebaceous Carcinoma confirmed sebaceous cancer NCIT:C40310 NCIT -MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym sebaceous carcinoma sebaceous carcinoma Sebaceous carcinoma NCIT:C40310 Sebaceous Carcinoma confirmed sebaceous carcinoma NCIT:C40310 NCIT MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym sebaceous carcinoma sebaceous carcinoma Sebaceous Carcinoma NCIT:C40310 Sebaceous Carcinoma confirmed sebaceous carcinoma NCIT:C40310 NCIT +MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym sebaceous carcinoma sebaceous carcinoma Sebaceous carcinoma NCIT:C40310 Sebaceous Carcinoma confirmed sebaceous carcinoma NCIT:C40310 NCIT MONDO:0006962 sebaceous adenocarcinoma oio:hasExactSynonym sebaceous gland carcinoma sebaceous gland carcinoma Sebaceous Gland Carcinoma NCIT:C40310 Sebaceous Carcinoma confirmed sebaceous gland carcinoma NCIT:C40310 NCIT MONDO:0006963 sebaceous gland neoplasm oio:hasExactSynonym sebaceous gland neoplasm sebaceous gland neoplasm Sebaceous Gland Neoplasm NCIT:C3363 Sebaceous Gland Neoplasm confirmed sebaceous gland neoplasm NCIT:C3363 NCIT MONDO:0006963 sebaceous gland neoplasm oio:hasExactSynonym sebaceous gland tumor sebaceous gland tumor Sebaceous Gland Tumor NCIT:C3363 Sebaceous Gland Neoplasm confirmed sebaceous gland tumor NCIT:C3363 NCIT @@ -94575,8 +94575,8 @@ MONDO:0006964 secondary hyperparathyroidism oio:hasExactSynonym secondary hyper MONDO:0006966 secondary Parkinson disease oio:hasExactSynonym secondary Parkinsonism secondary Parkinsonism Secondary Parkinsonism NCIT:C34899 Secondary Parkinsonism confirmed secondary Parkinsonism NCIT:C34899 NCIT MONDO:0006969 sialadenitis oio:hasExactSynonym sialitis sialitis Sialitis NCIT:C115165 Sialitis confirmed sialitis NCIT:C115165 NCIT MONDO:0006969 sialadenitis oio:hasExactSynonym sialoadenitis sialoadenitis Sialoadenitis NCIT:C26882 Sialadenitis confirmed sialoadenitis NCIT:C26882 NCIT -MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal carcinoma NCIT:C3775 Adnexal Carcinoma confirmed adnexal carcinoma NCIT:C3775 NCIT MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal Carcinoma NCIT:C3775 Adnexal Carcinoma confirmed adnexal carcinoma NCIT:C3775 NCIT +MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym adnexal carcinoma adnexal carcinoma Adnexal carcinoma NCIT:C3775 Adnexal Carcinoma confirmed adnexal carcinoma NCIT:C3775 NCIT MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma of adnexa carcinoma of adnexa Carcinoma of Adnexa NCIT:C3775 Adnexal Carcinoma confirmed carcinoma of adnexa NCIT:C3775 NCIT MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma of skin appendage carcinoma of skin appendage Carcinoma of Skin Appendage NCIT:C3775 Adnexal Carcinoma confirmed carcinoma of skin appendage NCIT:C3775 NCIT MONDO:0006973 skin appendage carcinoma oio:hasExactSynonym carcinoma, adnexal, malignant carcinoma, adnexal, malignant CARCINOMA, ADNEXAL, MALIGNANT NCIT:C3775 Adnexal Carcinoma confirmed carcinoma, adnexal, malignant NCIT:C3775 NCIT @@ -94753,8 +94753,8 @@ MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular cance MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatocellular carcinoma hepatocellular carcinoma Hepatocellular Carcinoma NCIT:C3099 Hepatocellular Carcinoma confirmed hepatocellular carcinoma NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym hepatoma hepatoma Hepatoma NCIT:C3099 Hepatocellular Carcinoma confirmed hepatoma NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell cancer (hepatocellular carcinoma) liver cell cancer (hepatocellular carcinoma) Liver Cell Cancer (Hepatocellular Carcinoma) NCIT:C3099 Hepatocellular Carcinoma confirmed liver cell cancer (hepatocellular carcinoma) NCIT:C3099 NCIT -MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver cell carcinoma NCIT:C3099 Hepatocellular Carcinoma confirmed liver cell carcinoma NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver Cell Carcinoma NCIT:C3099 Hepatocellular Carcinoma confirmed liver cell carcinoma NCIT:C3099 NCIT +MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym liver cell carcinoma liver cell carcinoma Liver cell carcinoma NCIT:C3099 Hepatocellular Carcinoma confirmed liver cell carcinoma NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym primary carcinoma of liver cells primary carcinoma of liver cells Primary Carcinoma of Liver Cells NCIT:C3099 Hepatocellular Carcinoma confirmed primary carcinoma of liver cells NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym primary carcinoma of the liver cells primary carcinoma of the liver cells Primary Carcinoma of the Liver Cells NCIT:C3099 Hepatocellular Carcinoma confirmed primary carcinoma of the liver cells NCIT:C3099 NCIT MONDO:0007256 hepatocellular carcinoma oio:hasExactSynonym HCC NCIT:C3099 Hepatocellular Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HCC NCIT:C3099 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -94777,8 +94777,8 @@ MONDO:0007295 childhood epilepsy with centrotemporal spikes oio:hasExactSynonym MONDO:0007295 childhood epilepsy with centrotemporal spikes oio:hasExactSynonym BRE NCIT:C116538 Benign Rolandic Epilepsy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed BRE NCIT:C116538 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007296 spinocerebellar ataxia type 31 oio:hasExactSynonym spinocerebellar ataxia type 31 spinocerebellar ataxia type 31 Spinocerebellar Ataxia Type 31 NCIT:C176901 Spinocerebellar Ataxia Type 31 confirmed spinocerebellar ataxia type 31 NCIT:C176901 NCIT MONDO:0007296 spinocerebellar ataxia type 31 oio:hasExactSynonym SCA31 NCIT:C176901 Spinocerebellar Ataxia Type 31 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCA31 NCIT:C176901 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0007303 cervical rib disease oio:hasExactSynonym cervical rib cervical rib Cervical Rib NCIT:C158329 Cervical Rib confirmed cervical rib NCIT:C158329 NCIT MONDO:0007303 cervical rib disease oio:hasExactSynonym cervical rib cervical rib CERVICAL RIB NCIT:C158329 Cervical Rib confirmed cervical rib NCIT:C158329 NCIT +MONDO:0007303 cervical rib disease oio:hasExactSynonym cervical rib cervical rib Cervical Rib NCIT:C158329 Cervical Rib confirmed cervical rib NCIT:C158329 NCIT MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym Charcot-Marie-Tooth disease type 2A Charcot-Marie-Tooth disease type 2A Charcot-Marie-Tooth Disease Type 2A NCIT:C134952 Charcot-Marie-Tooth Disease Type 2A confirmed Charcot-Marie-Tooth disease type 2A NCIT:C134952 NCIT MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym CMT2A NCIT:C134952 Charcot-Marie-Tooth Disease Type 2A http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT2A NCIT:C134952 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 oio:hasExactSynonym Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth Disease Type 2A1 NCIT:C150609 Charcot-Marie-Tooth Disease Type 2A1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Charcot-Marie-Tooth disease type 2A1 NCIT:C150609 NCIT @@ -94922,8 +94922,8 @@ MONDO:0007589 exudative vitreoretinopathy 1 oio:hasExactSynonym exudative vitre MONDO:0007603 Felty syndrome oio:hasExactSynonym Felty syndrome Felty syndrome Felty Syndrome NCIT:C84712 Felty Syndrome confirmed Felty syndrome NCIT:C84712 NCIT MONDO:0007603 Felty syndrome oio:hasExactSynonym Felty's syndrome Felty's syndrome Felty's Syndrome NCIT:C84712 Felty Syndrome confirmed Felty's syndrome NCIT:C84712 NCIT MONDO:0007606 fibrodysplasia ossificans progressiva oio:hasExactSynonym fibrodysplasia ossificans progressiva fibrodysplasia ossificans progressiva Fibrodysplasia Ossificans Progressiva NCIT:C3040 Fibrodysplasia Ossificans Progressiva confirmed fibrodysplasia ossificans progressiva NCIT:C3040 NCIT -MONDO:0007608 desmoid tumor oio:hasExactSynonym aggressive fibromatosis aggressive fibromatosis Aggressive fibromatosis NCIT:C9182 Desmoid Fibromatosis confirmed aggressive fibromatosis NCIT:C9182 NCIT MONDO:0007608 desmoid tumor oio:hasExactSynonym aggressive fibromatosis aggressive fibromatosis Aggressive Fibromatosis NCIT:C9182 Desmoid Fibromatosis confirmed aggressive fibromatosis NCIT:C9182 NCIT +MONDO:0007608 desmoid tumor oio:hasExactSynonym aggressive fibromatosis aggressive fibromatosis Aggressive fibromatosis NCIT:C9182 Desmoid Fibromatosis confirmed aggressive fibromatosis NCIT:C9182 NCIT MONDO:0007608 desmoid tumor oio:hasExactSynonym deep fibromatosis deep fibromatosis Deep Fibromatosis NCIT:C9182 Desmoid Fibromatosis confirmed deep fibromatosis NCIT:C9182 NCIT MONDO:0007608 desmoid tumor oio:hasExactSynonym deep fibromatosis/desmoid tumor deep fibromatosis/desmoid tumor Deep Fibromatosis/Desmoid Tumor NCIT:C9182 Desmoid Fibromatosis confirmed deep fibromatosis/desmoid tumor NCIT:C9182 NCIT MONDO:0007608 desmoid tumor oio:hasExactSynonym desmoid fibromatosis desmoid fibromatosis Desmoid Fibromatosis NCIT:C9182 Desmoid Fibromatosis confirmed desmoid fibromatosis NCIT:C9182 NCIT @@ -94938,11 +94938,11 @@ MONDO:0007644 IgAD1 oio:hasExactSynonym IGAD1 NCIT:C123434 Immunoglobulin A D MONDO:0007648 hereditary diffuse gastric adenocarcinoma oio:hasExactSynonym hereditary diffuse gastric cancer hereditary diffuse gastric cancer Hereditary Diffuse Gastric Cancer NCIT:C43295 Hereditary Gastric Diffuse Adenocarcinoma confirmed hereditary diffuse gastric cancer NCIT:C43295 NCIT MONDO:0007648 hereditary diffuse gastric adenocarcinoma oio:hasExactSynonym hereditary diffuse gastric adenocarcinoma hereditary diffuse gastric adenocarcinoma Hereditary Diffuse Gastric Adenocarcinoma NCIT:C43295 Hereditary Gastric Diffuse Adenocarcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hereditary diffuse gastric adenocarcinoma NCIT:C43295 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Extranodal Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 NCIT -MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 NCIT +MONDO:0007650 MALT lymphoma oio:hasExactSynonym Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym Immunocytoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed Immunocytoma NCIT:C3898 NCIT -MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed MALT lymphoma NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma MALT lymphoma MALT Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed MALT lymphoma NCIT:C3898 NCIT +MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALT lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed MALT lymphoma NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym MALToma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed MALToma NCIT:C3898 NCIT MONDO:0007650 MALT lymphoma oio:hasExactSynonym mucosa-associated lymphoid tissue lymphoma mucosa-associated lymphoid tissue lymphoma Mucosa-Associated Lymphoid Tissue Lymphoma NCIT:C3898 Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue confirmed mucosa-associated lymphoid tissue lymphoma NCIT:C3898 NCIT MONDO:0007652 gastric mucosal hypertrophy oio:hasExactSynonym MENETRIER disease MENETRIER disease Menetrier Disease NCIT:C67277 Giant Hypertrophic Gastritis confirmed MENETRIER disease NCIT:C67277 NCIT @@ -94958,8 +94958,8 @@ MONDO:0007661 Tourette syndrome oio:hasExactSynonym Tourette's syndrome Tourett MONDO:0007667 subependymoma oio:hasExactSynonym SUBEPENDYMOMA, benign SUBEPENDYMOMA, benign SUBEPENDYMOMA, BENIGN NCIT:C3795 Subependymoma confirmed SUBEPENDYMOMA, benign NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm WHO Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma confirmed WHO grade I ependymal neoplasm NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal neoplasm WHO grade I ependymal neoplasm Who Grade I Ependymal Neoplasm NCIT:C3795 Subependymoma confirmed WHO grade I ependymal neoplasm NCIT:C3795 NCIT -MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor WHO Grade I Ependymal Tumor NCIT:C3795 Subependymoma confirmed WHO grade I ependymal tumor NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor Who Grade I Ependymal Tumor NCIT:C3795 Subependymoma confirmed WHO grade I ependymal tumor NCIT:C3795 NCIT +MONDO:0007667 subependymoma oio:hasExactSynonym WHO grade I ependymal tumor WHO grade I ependymal tumor WHO Grade I Ependymal Tumor NCIT:C3795 Subependymoma confirmed WHO grade I ependymal tumor NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym subependymal astrocytoma subependymal astrocytoma Subependymal Astrocytoma NCIT:C3795 Subependymoma confirmed subependymal astrocytoma NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym subependymal glioma subependymal glioma Subependymal glioma NCIT:C3795 Subependymoma confirmed subependymal glioma NCIT:C3795 NCIT MONDO:0007667 subependymoma oio:hasExactSynonym subependymal glioma subependymal glioma Subependymal Glioma NCIT:C3795 Subependymoma confirmed subependymal glioma NCIT:C3795 NCIT @@ -95023,8 +95023,8 @@ MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome oio:hasExactSyn MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome oio:hasExactSynonym hypoparathyroidism, deafness, and renal anomalies syndrome hypoparathyroidism, deafness, and renal anomalies syndrome Hypoparathyroidism, Deafness, and Renal Anomalies Syndrome NCIT:C130983 Barakat Syndrome confirmed hypoparathyroidism, deafness, and renal anomalies syndrome NCIT:C130983 NCIT MONDO:0007800 chromosome 18p deletion syndrome oio:hasExactSynonym 18p syndrome 18p syndrome 18P Syndrome NCIT:C84521 Deletion 18p Syndrome confirmed 18p syndrome NCIT:C84521 NCIT MONDO:0007800 chromosome 18p deletion syndrome oio:hasExactSynonym deletion 18p syndrome deletion 18p syndrome Deletion 18p Syndrome NCIT:C84521 Deletion 18p Syndrome confirmed deletion 18p syndrome NCIT:C84521 NCIT -MONDO:0007803 multiple system atrophy oio:hasExactSynonym Shy-Drager syndrome NCIT:C84909 Multiple System Atrophy confirmed Shy-Drager syndrome NCIT:C84909 NCIT MONDO:0007803 multiple system atrophy oio:hasExactSynonym Shy-Drager syndrome Shy-Drager syndrome Shy-Drager Syndrome NCIT:C84909 Multiple System Atrophy confirmed Shy-Drager syndrome NCIT:C84909 NCIT +MONDO:0007803 multiple system atrophy oio:hasExactSynonym Shy-Drager syndrome NCIT:C84909 Multiple System Atrophy confirmed Shy-Drager syndrome NCIT:C84909 NCIT MONDO:0007804 Pallister-Hall syndrome oio:hasExactSynonym Pallister-Hall syndrome Pallister-Hall syndrome Pallister-Hall Syndrome NCIT:C84987 Pallister-Hall Syndrome confirmed Pallister-Hall syndrome NCIT:C84987 NCIT MONDO:0007804 Pallister-Hall syndrome oio:hasExactSynonym ano-cerebro-digital syndrome ano-cerebro-digital syndrome Ano-cerebro-digital Syndrome NCIT:C84987 Pallister-Hall Syndrome confirmed ano-cerebro-digital syndrome NCIT:C84987 NCIT MONDO:0007804 Pallister-Hall syndrome oio:hasExactSynonym hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma syndrome Hypothalamic Hamartoblastoma Syndrome NCIT:C84987 Pallister-Hall Syndrome confirmed hypothalamic hamartoblastoma syndrome NCIT:C84987 NCIT @@ -95037,8 +95037,8 @@ MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym type I hypersensit MONDO:0007817 IgE responsiveness, atopic oio:hasExactSynonym type I immediate hypersensitivity reaction type I immediate hypersensitivity reaction Type I Immediate Hypersensitivity Reaction NCIT:C3116 Type I Hypersensitivity confirmed type I immediate hypersensitivity reaction NCIT:C3116 NCIT MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym JOB syndrome JOB syndrome Job Syndrome NCIT:C126342 STAT3 Deficiency confirmed JOB syndrome NCIT:C126342 NCIT MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym Job's syndrome NCIT:C126342 STAT3 Deficiency confirmed Job's syndrome NCIT:C126342 NCIT -MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency NCIT:C126342 STAT3 Deficiency confirmed STAT3 deficiency NCIT:C126342 NCIT MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency STAT3 deficiency STAT3 Deficiency NCIT:C126342 STAT3 Deficiency confirmed STAT3 deficiency NCIT:C126342 NCIT +MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym STAT3 deficiency NCIT:C126342 STAT3 Deficiency confirmed STAT3 deficiency NCIT:C126342 NCIT MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant oio:hasExactSynonym autosomal dominant hyper-IgE syndrome autosomal dominant hyper-IgE syndrome Autosomal dominant hyper-IgE syndrome NCIT:C126342 STAT3 Deficiency confirmed autosomal dominant hyper-IgE syndrome NCIT:C126342 NCIT MONDO:0007827 inclusion body myositis oio:hasExactSynonym inclusion body myositis inclusion body myositis Inclusion Body Myositis NCIT:C84786 Inclusion Body Myositis confirmed inclusion body myositis NCIT:C84786 NCIT MONDO:0007834 islet cell adenomatosis oio:hasExactSynonym islet cell adenomatosis islet cell adenomatosis Islet cell adenomatosis NCIT:C4375 Nesidioblastosis confirmed islet cell adenomatosis NCIT:C4375 NCIT @@ -95086,8 +95086,8 @@ MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynony MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynonym hereditary leiomyomatosis and renal cell cancer hereditary leiomyomatosis and renal cell cancer Hereditary Leiomyomatosis and Renal Cell Cancer NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hereditary leiomyomatosis and renal cell cancer NCIT:C51302 NCIT MONDO:0007888 hereditary leiomyomatosis and renal cell cancer oio:hasExactSynonym HLRCC NCIT:C51302 Hereditary Leiomyomatosis and Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HLRCC NCIT:C51302 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0007893 Noonan syndrome with multiple lentigines oio:hasExactSynonym LEOPARD syndrome LEOPARD syndrome LEOPARD Syndrome NCIT:C84820 LEOPARD Syndrome confirmed LEOPARD syndrome NCIT:C84820 NCIT -MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia NCIT:C4861 NCIT MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute monocytic leukemia NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia NCIT:C4861 NCIT +MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia acute monocytic leukemia Acute Monocytic Leukemia NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia NCIT:C4861 NCIT MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia (FAB M5B) NCIT:C4861 NCIT MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5B) acute monocytic leukemia (FAB M5B) Acute Monocytic Leukemia (FAB M5b) NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia (FAB M5B) NCIT:C4861 NCIT MONDO:0007896 acute monocytic leukemia oio:hasExactSynonym acute monocytic leukemia (FAB M5b) acute monocytic leukemia (FAB M5b) Acute Monocytic Leukemia (Fab M5B) NCIT:C4861 Acute Monocytic Leukemia confirmed acute monocytic leukemia (FAB M5b) NCIT:C4861 NCIT @@ -95176,8 +95176,8 @@ MONDO:0008082 multiple endocrine neoplasia type 2B oio:hasExactSynonym multiple MONDO:0008082 multiple endocrine neoplasia type 2B oio:hasExactSynonym multiple endocrine neoplasia type IIB multiple endocrine neoplasia type IIB Multiple Endocrine Neoplasia Type IIB NCIT:C3227 Multiple Endocrine Neoplasia Type 2B confirmed multiple endocrine neoplasia type IIB NCIT:C3227 NCIT MONDO:0008082 multiple endocrine neoplasia type 2B oio:hasExactSynonym multiple endocrine neoplasia type III multiple endocrine neoplasia type III Multiple Endocrine Neoplasia Type III NCIT:C3227 Multiple Endocrine Neoplasia Type 2B confirmed multiple endocrine neoplasia type III NCIT:C3227 NCIT MONDO:0008082 multiple endocrine neoplasia type 2B oio:hasExactSynonym multiple endocrine neoplasia, type III multiple endocrine neoplasia, type III Multiple Endocrine Neoplasia, Type III NCIT:C3227 Multiple Endocrine Neoplasia Type 2B confirmed multiple endocrine neoplasia, type III NCIT:C3227 NCIT -MONDO:0008082 multiple endocrine neoplasia type 2B oio:hasExactSynonym multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2B Multiple Endocrine Neoplasia Type 2B NCIT:C3227 Multiple Endocrine Neoplasia Type 2B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2B NCIT:C3227 NCIT MONDO:0008082 multiple endocrine neoplasia type 2B oio:hasExactSynonym multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2B Multiple Endocrine Neoplasia Type 2b NCIT:C3227 Multiple Endocrine Neoplasia Type 2B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2B NCIT:C3227 NCIT +MONDO:0008082 multiple endocrine neoplasia type 2B oio:hasExactSynonym multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 2B Multiple Endocrine Neoplasia Type 2B NCIT:C3227 Multiple Endocrine Neoplasia Type 2B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2B NCIT:C3227 NCIT MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) oio:hasExactSynonym autosomal dominant Kufs disease autosomal dominant Kufs disease Autosomal Dominant Kufs Disease NCIT:C128116 Neuronal Ceroid Lipofuscinosis Type 4B confirmed autosomal dominant Kufs disease NCIT:C128116 NCIT MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) oio:hasExactSynonym neuronal ceroid lipofuscinosis type 4B neuronal ceroid lipofuscinosis type 4B Neuronal Ceroid Lipofuscinosis Type 4B NCIT:C128116 Neuronal Ceroid Lipofuscinosis Type 4B confirmed neuronal ceroid lipofuscinosis type 4B NCIT:C128116 NCIT MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) oio:hasExactSynonym neuronal ceroid lipofuscinosis, parry type neuronal ceroid lipofuscinosis, parry type Neuronal Ceroid Lipofuscinosis, Parry Type NCIT:C128116 Neuronal Ceroid Lipofuscinosis Type 4B confirmed neuronal ceroid lipofuscinosis, parry type NCIT:C128116 NCIT @@ -95265,16 +95265,16 @@ MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym MEA type MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men 2A men 2A MEN 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed men 2A NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men type 2a men type 2a MEN Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed men type 2a NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym men type II men type II MEN Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed men type II NCIT:C3226 NCIT -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2A NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2A NCIT:C3226 NCIT -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2a NCIT:C3226 NCIT +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2A multiple endocrine adenomatosis type 2A Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2A NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2a NCIT:C3226 NCIT +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type 2a multiple endocrine adenomatosis type 2a Multiple Endocrine Adenomatosis Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type 2a NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis type II multiple endocrine adenomatosis type II Multiple Endocrine Adenomatosis Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis type II NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine adenomatosis, type II multiple endocrine adenomatosis, type II Multiple Endocrine Adenomatosis, Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine adenomatosis, type II NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type II multiple endocrine neoplasia type II Multiple Endocrine Neoplasia Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine neoplasia type II NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia, type II multiple endocrine neoplasia, type II Multiple Endocrine Neoplasia, Type II NCIT:C3226 Multiple Endocrine Neoplasia Type 2A confirmed multiple endocrine neoplasia, type II NCIT:C3226 NCIT -MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2A NCIT:C3226 NCIT MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2A NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2A NCIT:C3226 NCIT +MONDO:0008234 multiple endocrine neoplasia type 2A oio:hasExactSynonym multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2A Multiple Endocrine Neoplasia Type 2a NCIT:C3226 Multiple Endocrine Neoplasia Type 2A http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed multiple endocrine neoplasia type 2A NCIT:C3226 NCIT MONDO:0008243 Pick disease oio:hasExactSynonym Pick disease Pick disease Pick Disease NCIT:C85008 Pick's Disease confirmed Pick disease NCIT:C85008 NCIT MONDO:0008244 piebaldism oio:hasExactSynonym piebaldism piebaldism Piebaldism NCIT:C85009 Piebaldism confirmed piebaldism NCIT:C85009 NCIT MONDO:0008262 Poland syndrome oio:hasExactSynonym Poland anomaly Poland anomaly Poland Anomaly NCIT:C85017 Poland Syndrome confirmed Poland anomaly NCIT:C85017 NCIT @@ -95338,8 +95338,8 @@ MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver dwarfi MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Russell-Silver syndrome Russell-Silver syndrome Russell-Silver Syndrome NCIT:C85068 Russell-Silver Syndrome confirmed Russell-Silver syndrome NCIT:C85068 NCIT MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell dwarfism Silver-Russell dwarfism Silver-Russell Dwarfism NCIT:C85068 Russell-Silver Syndrome confirmed Silver-Russell dwarfism NCIT:C85068 NCIT MONDO:0008394 Silver-Russell syndrome oio:hasExactSynonym Silver-Russell syndrome Silver-Russell syndrome Silver-Russell Syndrome NCIT:C85068 Russell-Silver Syndrome confirmed Silver-Russell syndrome NCIT:C85068 NCIT -MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic adenoma NCIT:C8602 Pleomorphic Adenoma confirmed pleomorphic adenoma NCIT:C8602 NCIT MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic Adenoma NCIT:C8602 Pleomorphic Adenoma confirmed pleomorphic adenoma NCIT:C8602 NCIT +MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym pleomorphic adenoma pleomorphic adenoma Pleomorphic adenoma NCIT:C8602 Pleomorphic Adenoma confirmed pleomorphic adenoma NCIT:C8602 NCIT MONDO:0008401 pleomorphic adenoma oio:hasExactSynonym tumor, mixed, benign tumor, mixed, benign TUMOR, MIXED, BENIGN NCIT:C8602 Pleomorphic Adenoma confirmed tumor, mixed, benign NCIT:C8602 NCIT MONDO:0008410 Scheuermann disease oio:hasExactSynonym Calve's disease Calve's disease Calve's Disease NCIT:C34999 Juvenile Osteochondrosis of Spine confirmed Calve's disease NCIT:C34999 NCIT MONDO:0008410 Scheuermann disease oio:hasExactSynonym Scheuermann's disease Scheuermann's disease Scheuermann's Disease NCIT:C34999 Juvenile Osteochondrosis of Spine confirmed Scheuermann's disease NCIT:C34999 NCIT @@ -95404,8 +95404,8 @@ MONDO:0008538 temporal arteritis oio:hasExactSynonym Giant Cell Arteritis NCI MONDO:0008538 temporal arteritis oio:hasExactSynonym giant cell arteritis giant cell arteritis Giant Cell Arteritis NCIT:C35065 Temporal Arteritis confirmed giant cell arteritis NCIT:C35065 NCIT MONDO:0008538 temporal arteritis oio:hasExactSynonym temporal arteritis temporal arteritis Temporal Arteritis NCIT:C35065 Temporal Arteritis confirmed temporal arteritis NCIT:C35065 NCIT MONDO:0008541 spermatic cord torsion oio:hasExactSynonym testicular torsion testicular torsion Testicular Torsion NCIT:C26885 Testicular Torsion confirmed testicular torsion NCIT:C26885 NCIT -MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot confirmed tetralogy of fallot NCIT:C84505 NCIT MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot confirmed tetralogy of fallot NCIT:C84505 NCIT +MONDO:0008542 tetralogy of fallot oio:hasExactSynonym tetralogy of fallot tetralogy of fallot TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot confirmed tetralogy of fallot NCIT:C84505 NCIT MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym thanatophoric dysplasia, type 1 thanatophoric dysplasia, type 1 Thanatophoric Dysplasia, Type 1 NCIT:C98583 Type 1 Thanatophoric Dysplasia confirmed thanatophoric dysplasia, type 1 NCIT:C98583 NCIT MONDO:0008546 thanatophoric dysplasia type 1 oio:hasExactSynonym type 1 thanatophoric dysplasia type 1 thanatophoric dysplasia Type 1 Thanatophoric Dysplasia NCIT:C98583 Type 1 Thanatophoric Dysplasia confirmed type 1 thanatophoric dysplasia NCIT:C98583 NCIT MONDO:0008547 thanatophoric dysplasia type 2 oio:hasExactSynonym thanatophoric dysplasia, type 2 thanatophoric dysplasia, type 2 Thanatophoric Dysplasia, Type 2 NCIT:C98584 Type 2 Thanatophoric Dysplasia confirmed thanatophoric dysplasia, type 2 NCIT:C98584 NCIT @@ -95477,8 +95477,8 @@ MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams syndrome Williams MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome Williams-Beuren syndrome Williams-Beuren Syndrome NCIT:C85232 Williams Syndrome confirmed Williams-Beuren syndrome NCIT:C85232 NCIT MONDO:0008678 Williams syndrome oio:hasExactSynonym Williams-Beuren syndrome (WBS) Williams-Beuren syndrome (WBS) Williams-Beuren Syndrome (WBS) NCIT:C85232 Williams Syndrome confirmed Williams-Beuren syndrome (WBS) NCIT:C85232 NCIT MONDO:0008681 WAGR syndrome oio:hasExactSynonym 11p partial monosomy syndrome 11p partial monosomy syndrome 11p Partial Monosomy Syndrome NCIT:C3718 WAGR Syndrome confirmed 11p partial monosomy syndrome NCIT:C3718 NCIT -MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome WAGR syndrome Wagr Syndrome NCIT:C3718 WAGR Syndrome confirmed WAGR syndrome NCIT:C3718 NCIT MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome WAGR syndrome WAGR Syndrome NCIT:C3718 WAGR Syndrome confirmed WAGR syndrome NCIT:C3718 NCIT +MONDO:0008681 WAGR syndrome oio:hasExactSynonym WAGR syndrome WAGR syndrome Wagr Syndrome NCIT:C3718 WAGR Syndrome confirmed WAGR syndrome NCIT:C3718 NCIT MONDO:0008681 WAGR syndrome oio:hasExactSynonym Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies and Developmental Delay Syndrome NCIT:C3718 WAGR Syndrome confirmed Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome NCIT:C3718 NCIT MONDO:0008681 WAGR syndrome oio:hasExactSynonym Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome NCIT:C3718 WAGR Syndrome http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome NCIT:C3718 NCIT MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym Denys Drash syndrome Denys Drash syndrome Denys Drash Syndrome NCIT:C84668 Denys-Drash Syndrome confirmed Denys Drash syndrome NCIT:C84668 NCIT @@ -95487,8 +95487,8 @@ MONDO:0008682 Denys-Drash syndrome oio:hasExactSynonym Denys-Drash syndrome Den MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym 4p deletion syndrome 4p deletion syndrome 4p Deletion Syndrome NCIT:C35528 Wolf-Hirschhorn Syndrome confirmed 4p deletion syndrome NCIT:C35528 NCIT MONDO:0008684 Wolf-Hirschhorn syndrome oio:hasExactSynonym Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome Wolf-Hirschhorn Syndrome NCIT:C35528 Wolf-Hirschhorn Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Wolf-Hirschhorn syndrome NCIT:C35528 NCIT MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome Wolff-Parkinson-White Syndrome NCIT:C35132 Wolff-Parkinson-White Syndrome confirmed Wolff-Parkinson-White syndrome NCIT:C35132 NCIT -MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome WOLFF-PARKINSON-WHITE SYNDROME NCIT:C35132 Wolff-Parkinson-White Syndrome confirmed Wolff-Parkinson-White syndrome NCIT:C35132 NCIT MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome NCIT:C35132 Wolff-Parkinson-White Syndrome confirmed Wolff-Parkinson-White syndrome NCIT:C35132 NCIT +MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome WOLFF-PARKINSON-WHITE SYNDROME NCIT:C35132 Wolff-Parkinson-White Syndrome confirmed Wolff-Parkinson-White syndrome NCIT:C35132 NCIT MONDO:0008685 Wolff-Parkinson-White syndrome oio:hasExactSynonym WPW NCIT:C35132 Wolff-Parkinson-White Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed WPW NCIT:C35132 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008692 abetalipoproteinemia oio:hasExactSynonym abetalipoproteinemia abetalipoproteinemia Abetalipoproteinemia NCIT:C84525 Abetalipoproteinemia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed abetalipoproteinemia NCIT:C84525 NCIT MONDO:0008703 acromesomelic dysplasia 2A oio:hasExactSynonym Langer-Saldino achondrogenesis Langer-Saldino achondrogenesis Langer-Saldino Achondrogenesis NCIT:C3816 Type II Achondrogenesis confirmed Langer-Saldino achondrogenesis NCIT:C3816 NCIT @@ -95624,8 +95624,8 @@ MONDO:0009046 Fraser syndrome oio:hasExactSynonym Fraser syndrome Fraser syndro MONDO:0009047 cryptorchidism oio:hasExactSynonym cryptorchidism cryptorchidism Cryptorchidism NCIT:C12326 Undescended Testes confirmed cryptorchidism NCIT:C12326 NCIT MONDO:0009047 cryptorchidism oio:hasExactSynonym undescended testes undescended testes Undescended Testes NCIT:C12326 Undescended Testes confirmed undescended testes NCIT:C12326 NCIT MONDO:0009047 cryptorchidism oio:hasExactSynonym undescended testicle undescended testicle Undescended Testicle NCIT:C12326 Undescended Testes confirmed undescended testicle NCIT:C12326 NCIT -MONDO:0009047 cryptorchidism oio:hasExactSynonym undescended testis undescended testis Undescended Testis NCIT:C12326 Undescended Testes confirmed undescended testis NCIT:C12326 NCIT MONDO:0009047 cryptorchidism oio:hasExactSynonym undescended testis undescended testis Undescended testis NCIT:C12326 Undescended Testes confirmed undescended testis NCIT:C12326 NCIT +MONDO:0009047 cryptorchidism oio:hasExactSynonym undescended testis undescended testis Undescended Testis NCIT:C12326 Undescended Testes confirmed undescended testis NCIT:C12326 NCIT MONDO:0009050 Cushing disease due to pituitary adenoma oio:hasExactSynonym ACTH producing pituitary adenoma ACTH producing pituitary adenoma ACTH Producing Pituitary Adenoma NCIT:C113210 Cushing Disease confirmed ACTH producing pituitary adenoma NCIT:C113210 NCIT MONDO:0009058 cystathioninuria oio:hasExactSynonym cystathioninuria cystathioninuria Cystathioninuria NCIT:C129070 Cystathioninuria http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cystathioninuria NCIT:C129070 NCIT MONDO:0009061 cystic fibrosis oio:hasExactSynonym cystic fibrosis cystic fibrosis Cystic Fibrosis NCIT:C2975 Cystic Fibrosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cystic fibrosis NCIT:C2975 NCIT @@ -95690,8 +95690,8 @@ MONDO:0009255 galactokinase deficiency oio:hasExactSynonym GALK deficiency GALK MONDO:0009255 galactokinase deficiency oio:hasExactSynonym galactosemia type 2 galactosemia type 2 Galactosemia Type 2 NCIT:C114767 Galactokinase Deficiency confirmed galactosemia type 2 NCIT:C114767 NCIT MONDO:0009255 galactokinase deficiency oio:hasExactSynonym galactokinase deficiency galactokinase deficiency Galactokinase Deficiency NCIT:C114767 Galactokinase Deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed galactokinase deficiency NCIT:C114767 NCIT MONDO:0009256 galactorrhea oio:hasExactSynonym galactorrhea galactorrhea Galactorrhea NCIT:C113343 Galactorrhea confirmed galactorrhea NCIT:C113343 NCIT -MONDO:0009264 gastroschisis oio:hasExactSynonym gastroschisis gastroschisis GASTROSCHISIS NCIT:C84725 Gastroschisis confirmed gastroschisis NCIT:C84725 NCIT MONDO:0009264 gastroschisis oio:hasExactSynonym gastroschisis gastroschisis Gastroschisis NCIT:C84725 Gastroschisis confirmed gastroschisis NCIT:C84725 NCIT +MONDO:0009264 gastroschisis oio:hasExactSynonym gastroschisis gastroschisis GASTROSCHISIS NCIT:C84725 Gastroschisis confirmed gastroschisis NCIT:C84725 NCIT MONDO:0009276 Bernard-Soulier syndrome oio:hasExactSynonym Bernard-Soulier syndrome Bernard-Soulier syndrome Bernard-Soulier Syndrome NCIT:C84595 Bernard-Soulier Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Bernard-Soulier syndrome NCIT:C84595 NCIT MONDO:0009277 glaucoma 3A oio:hasExactSynonym Primary Congenital glaucoma 3A Primary Congenital glaucoma 3A Primary Congenital Glaucoma 3A NCIT:C148260 Primary Congenital Glaucoma 3A confirmed Primary Congenital glaucoma 3A NCIT:C148260 NCIT MONDO:0009281 glutaryl-CoA dehydrogenase deficiency oio:hasExactSynonym glutaric acidemia type 1 glutaric acidemia type 1 Glutaric Acidemia Type 1 NCIT:C99101 Glutaric Acidemia Type 1 confirmed glutaric acidemia type 1 NCIT:C99101 NCIT @@ -95878,17 +95878,17 @@ MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009688 myasthenia gravis oio:hasExactSynonym myasthenia gravis myasthenia gravis Myasthenia Gravis NCIT:C60989 Myasthenia Gravis confirmed myasthenia gravis NCIT:C60989 NCIT MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym presynaptic congenital myasthenic syndrome 6 presynaptic congenital myasthenic syndrome 6 Presynaptic Congenital Myasthenic Syndrome 6 NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 confirmed presynaptic congenital myasthenic syndrome 6 NCIT:C132292 NCIT MONDO:0009689 congenital myasthenic syndrome 6 oio:hasExactSynonym CMS6 NCIT:C132292 Presynaptic Congenital Myasthenic Syndrome 6 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMS6 NCIT:C132292 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0009691 mycosis fungoides oio:hasExactSynonym mycosis fungoides mycosis fungoides Mycosis Fungoides NCIT:C3246 Mycosis Fungoides confirmed mycosis fungoides NCIT:C3246 NCIT MONDO:0009691 mycosis fungoides oio:hasExactSynonym mycosis fungoides mycosis fungoides Mycosis fungoides NCIT:C3246 Mycosis Fungoides confirmed mycosis fungoides NCIT:C3246 NCIT +MONDO:0009691 mycosis fungoides oio:hasExactSynonym mycosis fungoides mycosis fungoides Mycosis Fungoides NCIT:C3246 Mycosis Fungoides confirmed mycosis fungoides NCIT:C3246 NCIT MONDO:0009691 mycosis fungoides oio:hasExactSynonym MF NCIT:C3246 Mycosis Fungoides http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MF NCIT:C3246 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym Agnogenic myeloid metaplasia Agnogenic myeloid metaplasia Agnogenic Myeloid Metaplasia NCIT:C2862 Primary Myelofibrosis confirmed Agnogenic myeloid metaplasia NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym Agnogenic myeloid metaplasia NCIT:C2862 Primary Myelofibrosis confirmed Agnogenic myeloid metaplasia NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym idiopathic bone marrow fibrosis idiopathic bone marrow fibrosis Idiopathic Bone Marrow Fibrosis NCIT:C2862 Primary Myelofibrosis confirmed idiopathic bone marrow fibrosis NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym idiopathic myelofibrosis idiopathic myelofibrosis Idiopathic Myelofibrosis NCIT:C2862 Primary Myelofibrosis confirmed idiopathic myelofibrosis NCIT:C2862 NCIT -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with Myeloid Metaplasia NCIT:C2862 Primary Myelofibrosis confirmed myelosclerosis with myeloid metaplasia NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with myeloid metaplasia NCIT:C2862 Primary Myelofibrosis confirmed myelosclerosis with myeloid metaplasia NCIT:C2862 NCIT -MONDO:0009692 primary myelofibrosis oio:hasExactSynonym primary myelofibrosis primary myelofibrosis Primary myelofibrosis NCIT:C2862 Primary Myelofibrosis confirmed primary myelofibrosis NCIT:C2862 NCIT +MONDO:0009692 primary myelofibrosis oio:hasExactSynonym myelosclerosis with myeloid metaplasia myelosclerosis with myeloid metaplasia Myelosclerosis with Myeloid Metaplasia NCIT:C2862 Primary Myelofibrosis confirmed myelosclerosis with myeloid metaplasia NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym primary myelofibrosis primary myelofibrosis Primary Myelofibrosis NCIT:C2862 Primary Myelofibrosis confirmed primary myelofibrosis NCIT:C2862 NCIT +MONDO:0009692 primary myelofibrosis oio:hasExactSynonym primary myelofibrosis primary myelofibrosis Primary myelofibrosis NCIT:C2862 Primary Myelofibrosis confirmed primary myelofibrosis NCIT:C2862 NCIT MONDO:0009692 primary myelofibrosis oio:hasExactSynonym AMM NCIT:C2862 Primary Myelofibrosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AMM NCIT:C2862 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma Multiple Myeloma Multiple myeloma NCIT:C3242 Multiple Myeloma confirmed Multiple Myeloma NCIT:C3242 NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym Multiple Myeloma NCIT:C3242 Multiple Myeloma confirmed Multiple Myeloma NCIT:C3242 NCIT @@ -95898,8 +95898,8 @@ MONDO:0009693 plasma cell myeloma oio:hasExactSynonym multiple myeloma/plasma c MONDO:0009693 plasma cell myeloma oio:hasExactSynonym myeloma myeloma Myeloma NCIT:C3242 Multiple Myeloma confirmed myeloma NCIT:C3242 NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym myeloma, plasma cell, malignant myeloma, plasma cell, malignant MYELOMA, PLASMA CELL, MALIGNANT NCIT:C3242 Multiple Myeloma confirmed myeloma, plasma cell, malignant NCIT:C3242 NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym myelomatosis myelomatosis Myelomatosis NCIT:C3242 Multiple Myeloma confirmed myelomatosis NCIT:C3242 NCIT -MONDO:0009693 plasma cell myeloma oio:hasExactSynonym plasma cell myeloma plasma cell myeloma Plasma cell myeloma NCIT:C3242 Multiple Myeloma confirmed plasma cell myeloma NCIT:C3242 NCIT MONDO:0009693 plasma cell myeloma oio:hasExactSynonym plasma cell myeloma plasma cell myeloma Plasma Cell Myeloma NCIT:C3242 Multiple Myeloma confirmed plasma cell myeloma NCIT:C3242 NCIT +MONDO:0009693 plasma cell myeloma oio:hasExactSynonym plasma cell myeloma plasma cell myeloma Plasma cell myeloma NCIT:C3242 Multiple Myeloma confirmed plasma cell myeloma NCIT:C3242 NCIT MONDO:0009697 Lafora disease oio:hasExactSynonym Lafora disease Lafora disease Lafora Disease NCIT:C84804 Lafora Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Lafora disease NCIT:C84804 NCIT MONDO:0009705 carnitine palmitoyl transferase 1A deficiency oio:hasExactSynonym carnitine palmitoyltransferase I deficiency carnitine palmitoyltransferase I deficiency Carnitine Palmitoyltransferase I Deficiency NCIT:C98871 Carnitine Palmitoyltransferase I Deficiency confirmed carnitine palmitoyltransferase I deficiency NCIT:C98871 NCIT MONDO:0009710 Thomsen and Becker disease oio:hasExactSynonym myotonia congenita myotonia congenita Myotonia Congenita NCIT:C84912 Myotonia Congenita confirmed myotonia congenita NCIT:C84912 NCIT @@ -95938,16 +95938,16 @@ MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym Clark Nevus NC MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym Clark's Nevus NCIT:C3694 Dysplastic Nevus confirmed Clark's Nevus NCIT:C3694 NCIT MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym Nevus with architectural disorder Nevus with architectural disorder Nevus with Architectural Disorder NCIT:C3694 Dysplastic Nevus confirmed Nevus with architectural disorder NCIT:C3694 NCIT MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym Nevus with architectural disorder and cytologic atypia of melanocytes Nevus with architectural disorder and cytologic atypia of melanocytes Nevus with Architectural Disorder and Cytologic Atypia of Melanocytes NCIT:C3694 Dysplastic Nevus confirmed Nevus with architectural disorder and cytologic atypia of melanocytes NCIT:C3694 NCIT -MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym dysplastic Nevus dysplastic Nevus Dysplastic Nevus NCIT:C3694 Dysplastic Nevus confirmed dysplastic Nevus NCIT:C3694 NCIT MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym dysplastic Nevus dysplastic Nevus Dysplastic nevus NCIT:C3694 Dysplastic Nevus confirmed dysplastic Nevus NCIT:C3694 NCIT -MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym dysplastic nevus dysplastic nevus Dysplastic Nevus NCIT:C3694 Dysplastic Nevus confirmed dysplastic nevus NCIT:C3694 NCIT +MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym dysplastic Nevus dysplastic Nevus Dysplastic Nevus NCIT:C3694 Dysplastic Nevus confirmed dysplastic Nevus NCIT:C3694 NCIT MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym dysplastic nevus dysplastic nevus Dysplastic nevus NCIT:C3694 Dysplastic Nevus confirmed dysplastic nevus NCIT:C3694 NCIT +MONDO:0009755 neutrophil actin dysfunction oio:hasExactSynonym dysplastic nevus dysplastic nevus Dysplastic Nevus NCIT:C3694 Dysplastic Nevus confirmed dysplastic nevus NCIT:C3694 NCIT MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym type C1 Niemann-Pick disease type C1 Niemann-Pick disease Type C1 Niemann-Pick Disease NCIT:C126864 Niemann-Pick Disease, Type C1 confirmed type C1 Niemann-Pick disease NCIT:C126864 NCIT MONDO:0009757 Niemann-Pick disease, type C1 oio:hasExactSynonym Niemann-Pick disease, type C1 Niemann-Pick disease, type C1 Niemann-Pick Disease, Type C1 NCIT:C126864 Niemann-Pick Disease, Type C1 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Niemann-Pick disease, type C1 NCIT:C126864 NCIT -MONDO:0009761 cystic hygroma oio:hasExactSynonym cystic hygroma cystic hygroma Cystic hygroma NCIT:C3724 Cystic Hygroma confirmed cystic hygroma NCIT:C3724 NCIT MONDO:0009761 cystic hygroma oio:hasExactSynonym cystic hygroma cystic hygroma Cystic Hygroma NCIT:C3724 Cystic Hygroma confirmed cystic hygroma NCIT:C3724 NCIT -MONDO:0009761 cystic hygroma oio:hasExactSynonym cystic lymphangioma cystic lymphangioma Cystic lymphangioma NCIT:C3724 Cystic Hygroma confirmed cystic lymphangioma NCIT:C3724 NCIT +MONDO:0009761 cystic hygroma oio:hasExactSynonym cystic hygroma cystic hygroma Cystic hygroma NCIT:C3724 Cystic Hygroma confirmed cystic hygroma NCIT:C3724 NCIT MONDO:0009761 cystic hygroma oio:hasExactSynonym cystic lymphangioma cystic lymphangioma Cystic Lymphangioma NCIT:C3724 Cystic Hygroma confirmed cystic lymphangioma NCIT:C3724 NCIT +MONDO:0009761 cystic hygroma oio:hasExactSynonym cystic lymphangioma cystic lymphangioma Cystic lymphangioma NCIT:C3724 Cystic Hygroma confirmed cystic lymphangioma NCIT:C3724 NCIT MONDO:0009761 cystic hygroma oio:hasExactSynonym hygroma hygroma Hygroma NCIT:C3724 Cystic Hygroma confirmed hygroma NCIT:C3724 NCIT MONDO:0009796 ornithine aminotransferase deficiency oio:hasExactSynonym gyrate atrophy gyrate atrophy Gyrate Atrophy NCIT:C84744 Gyrate Atrophy confirmed gyrate atrophy NCIT:C84744 NCIT MONDO:0009797 orotic aciduria oio:hasExactSynonym Hereditary Orotic Aciduria NCIT:C98944 Hereditary Orotic Aciduria confirmed Hereditary Orotic Aciduria NCIT:C98944 NCIT @@ -96028,10 +96028,10 @@ MONDO:0009902 cutaneous porphyria oio:hasExactSynonym CEP NCIT:C84697 Erythro MONDO:0009904 Gitelman syndrome oio:hasExactSynonym Gitelman syndrome Gitelman syndrome Gitelman Syndrome NCIT:C84730 Gitelman Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Gitelman syndrome NCIT:C84730 NCIT MONDO:0009910 Wiedemann-Rautenstrauch syndrome oio:hasExactSynonym Wiedemann-Rautenstrauch syndrome Wiedemann-Rautenstrauch syndrome Wiedemann-Rautenstrauch Syndrome NCIT:C121565 Neonatal Progeroid Syndrome confirmed Wiedemann-Rautenstrauch syndrome NCIT:C121565 NCIT MONDO:0009910 Wiedemann-Rautenstrauch syndrome oio:hasExactSynonym neonatal progeroid syndrome neonatal progeroid syndrome Neonatal Progeroid Syndrome NCIT:C121565 Neonatal Progeroid Syndrome confirmed neonatal progeroid syndrome NCIT:C121565 NCIT -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oio:hasExactSynonym 17 Beta HSD3 deficiency 17 Beta HSD3 deficiency 17 Beta HSD3 Deficiency NCIT:C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency confirmed 17 Beta HSD3 deficiency NCIT:C120203 NCIT MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oio:hasExactSynonym 17 Beta HSD3 deficiency 17 Beta HSD3 deficiency 17 beta HSD3 Deficiency NCIT:C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency confirmed 17 Beta HSD3 deficiency NCIT:C120203 NCIT -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oio:hasExactSynonym 17 beta HSD3 deficiency 17 beta HSD3 deficiency 17 Beta HSD3 Deficiency NCIT:C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency confirmed 17 beta HSD3 deficiency NCIT:C120203 NCIT +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oio:hasExactSynonym 17 Beta HSD3 deficiency 17 Beta HSD3 deficiency 17 Beta HSD3 Deficiency NCIT:C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency confirmed 17 Beta HSD3 deficiency NCIT:C120203 NCIT MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oio:hasExactSynonym 17 beta HSD3 deficiency 17 beta HSD3 deficiency 17 beta HSD3 Deficiency NCIT:C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency confirmed 17 beta HSD3 deficiency NCIT:C120203 NCIT +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oio:hasExactSynonym 17 beta HSD3 deficiency 17 beta HSD3 deficiency 17 Beta HSD3 Deficiency NCIT:C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency confirmed 17 beta HSD3 deficiency NCIT:C120203 NCIT MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency NCIT:C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency confirmed 17-beta-hydroxysteroid dehydrogenase 3 deficiency NCIT:C120203 NCIT MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency oio:hasExactSynonym peroxisomal acyl-CoA oxidase deficiency peroxisomal acyl-CoA oxidase deficiency Peroxisomal Acyl-CoA Oxidase Deficiency NCIT:C170437 Peroxisomal Acyl-CoA Oxidase Deficiency http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed peroxisomal acyl-CoA oxidase deficiency NCIT:C170437 NCIT MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency oio:hasExactSynonym 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency NCIT:C98699 5 Alpha Steroid Reductase 2 Deficiency confirmed 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency NCIT:C98699 NCIT @@ -96247,14 +96247,14 @@ MONDO:0010604 hemophilia B oio:hasExactSynonym factor IX deficiency factor IX d MONDO:0010604 hemophilia B oio:hasExactSynonym hereditary Factor IX deficiency hereditary Factor IX deficiency Hereditary Factor IX Deficiency NCIT:C26721 Hemophilia B confirmed hereditary Factor IX deficiency NCIT:C26721 NCIT MONDO:0010604 hemophilia B oio:hasExactSynonym hereditary Factor IX deficiency disease hereditary Factor IX deficiency disease Hereditary Factor IX Deficiency Disease NCIT:C26721 Hemophilia B confirmed hereditary Factor IX deficiency disease NCIT:C26721 NCIT MONDO:0010604 hemophilia B oio:hasExactSynonym hemophilia B hemophilia B Hemophilia B NCIT:C26721 Hemophilia B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed hemophilia B NCIT:C26721 NCIT -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym X-linked hypoparathyroidism X-linked hypoparathyroidism X-Linked Hypoparathyroidism NCIT:C131079 X-Linked Hypoparathyroidism confirmed X-linked hypoparathyroidism NCIT:C131079 NCIT MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym X-linked hypoparathyroidism X-linked hypoparathyroidism X-linked Hypoparathyroidism NCIT:C131079 X-Linked Hypoparathyroidism confirmed X-linked hypoparathyroidism NCIT:C131079 NCIT +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland oio:hasExactSynonym X-linked hypoparathyroidism X-linked hypoparathyroidism X-Linked Hypoparathyroidism NCIT:C131079 X-Linked Hypoparathyroidism confirmed X-linked hypoparathyroidism NCIT:C131079 NCIT MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-Linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed X-linked dominant hypophosphatemic rickets NCIT:C85234 NCIT MONDO:0010619 X-linked dominant hypophosphatemic rickets oio:hasExactSynonym X-linked dominant hypophosphatemic rickets X-linked dominant hypophosphatemic rickets X-linked Dominant Hypophosphatemic Rickets NCIT:C85234 X-Linked Dominant Hypophosphatemic Rickets http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed X-linked dominant hypophosphatemic rickets NCIT:C85234 NCIT MONDO:0010622 recessive X-linked ichthyosis oio:hasExactSynonym X-linked ichthyosis X-linked ichthyosis X-Linked Ichthyosis NCIT:C84779 X-Linked Ichthyosis confirmed X-linked ichthyosis NCIT:C84779 NCIT MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym Duncan disease Duncan disease Duncan Disease NCIT:C61246 X-Linked Lymphoproliferative Syndrome confirmed Duncan disease NCIT:C61246 NCIT -MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome X-linked Lymphoproliferative Syndrome NCIT:C61246 X-Linked Lymphoproliferative Syndrome confirmed X-linked lymphoproliferative syndrome NCIT:C61246 NCIT MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome X-Linked Lymphoproliferative Syndrome NCIT:C61246 X-Linked Lymphoproliferative Syndrome confirmed X-linked lymphoproliferative syndrome NCIT:C61246 NCIT +MONDO:0010627 X-linked lymphoproliferative syndrome oio:hasExactSynonym X-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome X-linked Lymphoproliferative Syndrome NCIT:C61246 X-Linked Lymphoproliferative Syndrome confirmed X-linked lymphoproliferative syndrome NCIT:C61246 NCIT MONDO:0010631 incontinentia pigmenti oio:hasExactSynonym Incontinentia pigmenti syndrome Incontinentia pigmenti syndrome Incontinentia Pigmenti Syndrome NCIT:C84787 Incontinentia Pigmenti confirmed Incontinentia pigmenti syndrome NCIT:C84787 NCIT MONDO:0010631 incontinentia pigmenti oio:hasExactSynonym incontinentia pigmenti incontinentia pigmenti Incontinentia Pigmenti NCIT:C84787 Incontinentia Pigmenti http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed incontinentia pigmenti NCIT:C84787 NCIT MONDO:0010643 acute leukemia oio:hasExactSynonym acute leukemia acute leukemia Acute Leukemia NCIT:C9300 Acute Leukemia confirmed acute leukemia NCIT:C9300 NCIT @@ -96390,8 +96390,8 @@ MONDO:0011093 mucopolysaccharidosis type 9 oio:hasExactSynonym MPS9 NCIT:C129 MONDO:0011101 peroxisome biogenesis disorder 1B oio:hasExactSynonym peroxisome biogenesis disorder 1B peroxisome biogenesis disorder 1B Peroxisome Biogenesis Disorder 1B NCIT:C155749 Peroxisome Biogenesis Disorder 1B http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed peroxisome biogenesis disorder 1B NCIT:C155749 NCIT MONDO:0011113 Charcot-Marie-Tooth disease type 4C oio:hasExactSynonym Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth Disease Type 4C NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Charcot-Marie-Tooth disease type 4C NCIT:C129864 NCIT MONDO:0011113 Charcot-Marie-Tooth disease type 4C oio:hasExactSynonym CMT4C NCIT:C129864 Charcot-Marie-Tooth Disease Type 4C http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMT4C NCIT:C129864 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute bilineal leukemia NCIT:C6923 Acute Bilineal Leukemia confirmed acute bilineal leukemia NCIT:C6923 NCIT MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute Bilineal Leukemia NCIT:C6923 Acute Bilineal Leukemia confirmed acute bilineal leukemia NCIT:C6923 NCIT +MONDO:0011118 bilineal acute myeloid leukemia oio:hasExactSynonym acute bilineal leukemia acute bilineal leukemia Acute bilineal leukemia NCIT:C6923 Acute Bilineal Leukemia confirmed acute bilineal leukemia NCIT:C6923 NCIT MONDO:0011122 obesity disorder oio:hasExactSynonym obesity obesity Obesity NCIT:C3283 Obesity confirmed obesity NCIT:C3283 NCIT MONDO:0011125 trichothiodystrophy 1, photosensitive oio:hasExactSynonym trichothiodystrophy 1, photosensitive trichothiodystrophy 1, photosensitive Trichothiodystrophy 1, Photosensitive NCIT:C156433 Trichothiodystrophy 1, Photosensitive confirmed trichothiodystrophy 1, photosensitive NCIT:C156433 NCIT MONDO:0011146 tetrasomy 12p oio:hasExactSynonym Pallister-Killian syndrome Pallister-Killian syndrome Pallister-Killian Syndrome NCIT:C75458 Pallister-Killian Syndrome confirmed Pallister-Killian syndrome NCIT:C75458 NCIT @@ -96594,8 +96594,8 @@ MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair oio:hasExactS MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myelogenous leukemia juvenile chronic myelogenous leukemia Juvenile Chronic Myelogenous Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile chronic myelogenous leukemia NCIT:C9233 NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myeloid leukemia juvenile chronic myeloid leukemia Juvenile Chronic Myeloid Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile chronic myeloid leukemia NCIT:C9233 NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile chronic myelomonocytic leukemia juvenile chronic myelomonocytic leukemia Juvenile Chronic Myelomonocytic Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile chronic myelomonocytic leukemia NCIT:C9233 NCIT -MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile Myelomonocytic Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile myelomonocytic leukemia NCIT:C9233 NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile myelomonocytic leukemia NCIT:C9233 NCIT +MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia Juvenile Myelomonocytic Leukemia NCIT:C9233 Juvenile Myelomonocytic Leukemia confirmed juvenile myelomonocytic leukemia NCIT:C9233 NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym JCML NCIT:C9233 Juvenile Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JCML NCIT:C9233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011908 juvenile myelomonocytic leukemia oio:hasExactSynonym JMML NCIT:C9233 Juvenile Myelomonocytic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed JMML NCIT:C9233 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0011913 Alzheimer disease 3 oio:hasExactSynonym Alzheimer's disease 3 Alzheimer's disease 3 Alzheimer's Disease 3 NCIT:C123412 Alzheimer's Disease 3 confirmed Alzheimer's disease 3 NCIT:C123412 NCIT @@ -96660,8 +96660,8 @@ MONDO:0012085 primary ciliary dyskinesia 3 oio:hasExactSynonym CILD3 NCIT:C17 MONDO:0012089 ichthyosis prematurity syndrome oio:hasExactSynonym idiopathic pneumonia syndrome idiopathic pneumonia syndrome Idiopathic Pneumonia Syndrome NCIT:C62590 Idiopathic Pneumonia Syndrome confirmed idiopathic pneumonia syndrome NCIT:C62590 NCIT MONDO:0012089 ichthyosis prematurity syndrome oio:hasExactSynonym IPS NCIT:C62590 Idiopathic Pneumonia Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IPS NCIT:C62590 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0012104 acquired partial lipodystrophy oio:hasExactSynonym acquired partial lipodystrophy acquired partial lipodystrophy Acquired Partial Lipodystrophy NCIT:C129723 Acquired Partial Lipodystrophy confirmed acquired partial lipodystrophy NCIT:C129723 NCIT -MONDO:0012105 granulomatosis with polyangiitis oio:hasExactSynonym pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis NCIT:C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis confirmed pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis NCIT:C123111 NCIT MONDO:0012105 granulomatosis with polyangiitis oio:hasExactSynonym pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis NCIT:C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis confirmed pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis NCIT:C123111 NCIT +MONDO:0012105 granulomatosis with polyangiitis oio:hasExactSynonym pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis NCIT:C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis confirmed pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis NCIT:C123111 NCIT MONDO:0012105 granulomatosis with polyangiitis oio:hasExactSynonym granulomatosis with polyangiitis granulomatosis with polyangiitis Granulomatosis with Polyangiitis NCIT:C3444 Granulomatosis with Polyangiitis confirmed granulomatosis with polyangiitis NCIT:C3444 NCIT MONDO:0012105 granulomatosis with polyangiitis oio:hasExactSynonym Wegener granulomatosis Wegener granulomatosis Wegener Granulomatosis NCIT:C3444 Granulomatosis with Polyangiitis http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Wegener granulomatosis NCIT:C3444 NCIT MONDO:0012105 granulomatosis with polyangiitis oio:hasExactSynonym Wegener's granulomatosis Wegener's granulomatosis Wegener's Granulomatosis NCIT:C3444 Granulomatosis with Polyangiitis http://purl.obolibrary.org/obo/mondo#DEPRECATED confirmed Wegener's granulomatosis NCIT:C3444 NCIT @@ -96756,8 +96756,8 @@ MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 oio:hasExa MONDO:0012789 dystonia 16 oio:hasExactSynonym dystonia 16 dystonia 16 Dystonia 16 NCIT:C168729 Dystonia 16 confirmed dystonia 16 NCIT:C168729 NCIT MONDO:0012789 dystonia 16 oio:hasExactSynonym DYT16 NCIT:C168729 Dystonia 16 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DYT16 NCIT:C168729 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant NCIT:C176826 Ectodermal Dysplasia and Immunodeficiency 2 confirmed ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant NCIT:C176826 NCIT -MONDO:0012809 histiocytoma, Angiomatoid fibrous oio:hasExactSynonym angiomatoid fibrous histiocytoma angiomatoid fibrous histiocytoma Angiomatoid Fibrous Histiocytoma NCIT:C6494 Angiomatoid Fibrous Histiocytoma confirmed angiomatoid fibrous histiocytoma NCIT:C6494 NCIT MONDO:0012809 histiocytoma, Angiomatoid fibrous oio:hasExactSynonym angiomatoid fibrous histiocytoma angiomatoid fibrous histiocytoma Angiomatoid fibrous histiocytoma NCIT:C6494 Angiomatoid Fibrous Histiocytoma confirmed angiomatoid fibrous histiocytoma NCIT:C6494 NCIT +MONDO:0012809 histiocytoma, Angiomatoid fibrous oio:hasExactSynonym angiomatoid fibrous histiocytoma angiomatoid fibrous histiocytoma Angiomatoid Fibrous Histiocytoma NCIT:C6494 Angiomatoid Fibrous Histiocytoma confirmed angiomatoid fibrous histiocytoma NCIT:C6494 NCIT MONDO:0012809 histiocytoma, Angiomatoid fibrous oio:hasExactSynonym angiomatoid malignant fibrous histiocytoma angiomatoid malignant fibrous histiocytoma Angiomatoid Malignant Fibrous Histiocytoma NCIT:C6494 Angiomatoid Fibrous Histiocytoma confirmed angiomatoid malignant fibrous histiocytoma NCIT:C6494 NCIT MONDO:0012809 histiocytoma, Angiomatoid fibrous oio:hasExactSynonym AFH NCIT:C6494 Angiomatoid Fibrous Histiocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AFH NCIT:C6494 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0012812 developmental and epileptic encephalopathy, 4 oio:hasExactSynonym developmental and epileptic encephalopathy 4 developmental and epileptic encephalopathy 4 Developmental and Epileptic Encephalopathy 4 NCIT:C162472 Developmental and Epileptic Encephalopathy 4 confirmed developmental and epileptic encephalopathy 4 NCIT:C162472 NCIT @@ -96840,8 +96840,8 @@ MONDO:0013217 Diamond-Blackfan anemia 10 oio:hasExactSynonym Diamond-Blackfan a MONDO:0013224 rhabdoid tumor predisposition syndrome 2 oio:hasExactSynonym rhabdoid tumor predisposition syndrome 2 rhabdoid tumor predisposition syndrome 2 Rhabdoid Tumor Predisposition Syndrome 2 NCIT:C178394 Rhabdoid Tumor Predisposition Syndrome 2 http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed rhabdoid tumor predisposition syndrome 2 NCIT:C178394 NCIT MONDO:0013252 Warsaw breakage syndrome oio:hasExactSynonym Warsaw breakage syndrome Warsaw breakage syndrome Warsaw Breakage Syndrome NCIT:C164675 Warsaw Breakage Syndrome confirmed Warsaw breakage syndrome NCIT:C164675 NCIT MONDO:0013270 Rett syndrome, congenital variant oio:hasExactSynonym Rett syndrome, congenital variant Rett syndrome, congenital variant Rett Syndrome, Congenital Variant NCIT:C176903 Rett Syndrome, Congenital Variant confirmed Rett syndrome, congenital variant NCIT:C176903 NCIT -MONDO:0013280 myxoid liposarcoma oio:hasExactSynonym myxoid liposarcoma myxoid liposarcoma Myxoid Liposarcoma NCIT:C27781 Myxoid Liposarcoma confirmed myxoid liposarcoma NCIT:C27781 NCIT MONDO:0013280 myxoid liposarcoma oio:hasExactSynonym myxoid liposarcoma myxoid liposarcoma Myxoid liposarcoma NCIT:C27781 Myxoid Liposarcoma confirmed myxoid liposarcoma NCIT:C27781 NCIT +MONDO:0013280 myxoid liposarcoma oio:hasExactSynonym myxoid liposarcoma myxoid liposarcoma Myxoid Liposarcoma NCIT:C27781 Myxoid Liposarcoma confirmed myxoid liposarcoma NCIT:C27781 NCIT MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym Alpha-1 Antitrypsin Deficiency NCIT:C84397 Alpha-1 Antitrypsin Deficiency confirmed Alpha-1 Antitrypsin Deficiency NCIT:C84397 NCIT MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym A-1ATD NCIT:C84397 Alpha-1 Antitrypsin Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed A-1ATD NCIT:C84397 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0013282 alpha 1-antitrypsin deficiency oio:hasExactSynonym A1AD NCIT:C84397 Alpha-1 Antitrypsin Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed A1AD NCIT:C84397 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -96980,8 +96980,8 @@ MONDO:0014378 primary ciliary dyskinesia 29 oio:hasExactSynonym CILD29 NCIT:C MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym familial Dysalbuminemic hyperthyroidism familial Dysalbuminemic hyperthyroidism Familial Dysalbuminemic Hyperthyroidism NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism confirmed familial Dysalbuminemic hyperthyroidism NCIT:C131813 NCIT MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic oio:hasExactSynonym familial Dysalbuminemic hyperthyroxinemia familial Dysalbuminemic hyperthyroxinemia Familial Dysalbuminemic Hyperthyroxinemia NCIT:C131813 Familial Dysalbuminemic Hyperthyroidism confirmed familial Dysalbuminemic hyperthyroxinemia NCIT:C131813 NCIT MONDO:0014452 familial dysfibrinogenemia oio:hasExactSynonym dysfibrinogenemia dysfibrinogenemia Dysfibrinogenemia NCIT:C131659 Dysfibrinogenemia confirmed dysfibrinogenemia NCIT:C131659 NCIT -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency CTLA4 haploinsufficiency CTLA4 Haploinsufficiency NCIT:C126341 CTLA4 Deficiency confirmed CTLA4 haploinsufficiency NCIT:C126341 NCIT MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency NCIT:C126341 CTLA4 Deficiency confirmed CTLA4 haploinsufficiency NCIT:C126341 NCIT +MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CTLA4 haploinsufficiency CTLA4 haploinsufficiency CTLA4 Haploinsufficiency NCIT:C126341 CTLA4 Deficiency confirmed CTLA4 haploinsufficiency NCIT:C126341 NCIT MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CHAI chai CHAI NCIT:C126341 CTLA4 Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CHAI NCIT:C126341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency oio:hasExactSynonym CHAI NCIT:C126341 CTLA4 Deficiency http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CHAI NCIT:C126341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0014521 progressive myoclonic epilepsy type 7 oio:hasExactSynonym EPM7 NCIT:C142804 Epilepsy, Progressive Myoclonic 7 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EPM7 NCIT:C142804 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -97019,30 +97019,30 @@ MONDO:0015027 familial isolated hyperparathyroidism oio:hasExactSynonym familia MONDO:0015027 familial isolated hyperparathyroidism oio:hasExactSynonym FIHP NCIT:C94830 Hereditary Isolated Hyperparathyroidism http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FIHP NCIT:C94830 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym 48, XXYY Syndrome NCIT:C89801 XXYY Syndrome confirmed 48, XXYY Syndrome NCIT:C89801 NCIT MONDO:0015028 48,XXYY syndrome oio:hasExactSynonym 48, XXYY syndrome 48, XXYY syndrome 48, XXYY Syndrome NCIT:C89801 XXYY Syndrome confirmed 48, XXYY syndrome NCIT:C89801 NCIT -MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma NCIT:C6912 Soft Tissue Perineurioma confirmed soft tissue perineurioma NCIT:C6912 NCIT MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft Tissue Perineurioma NCIT:C6912 Soft Tissue Perineurioma confirmed soft tissue perineurioma NCIT:C6912 NCIT -MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural perineurioma NCIT:C6911 Intraneural Perineurioma confirmed intraneural perineurioma NCIT:C6911 NCIT +MONDO:0015031 extraneural perineurioma oio:hasExactSynonym soft tissue perineurioma soft tissue perineurioma Soft tissue perineurioma NCIT:C6912 Soft Tissue Perineurioma confirmed soft tissue perineurioma NCIT:C6912 NCIT MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural Perineurioma NCIT:C6911 Intraneural Perineurioma confirmed intraneural perineurioma NCIT:C6911 NCIT +MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma intraneural perineurioma Intraneural perineurioma NCIT:C6911 Intraneural Perineurioma confirmed intraneural perineurioma NCIT:C6911 NCIT MONDO:0015032 intraneural perineurioma oio:hasExactSynonym intraneural perineurioma (WHO grade I) intraneural perineurioma (WHO grade I) Intraneural Perineurioma (WHO Grade I) NCIT:C6911 Intraneural Perineurioma confirmed intraneural perineurioma (WHO grade I) NCIT:C6911 NCIT MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym myelodysplastic syndrome with Excess blasts-2 myelodysplastic syndrome with Excess blasts-2 Myelodysplastic Syndrome with Excess Blasts-2 NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia confirmed myelodysplastic syndrome with Excess blasts-2 NCIT:C7168 NCIT MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym MDS-EB-2 NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS-EB-2 NCIT:C7168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym RAEB-2 NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RAEB-2 NCIT:C7168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015041 myelodysplastic syndrome with excess blasts-2 oio:hasExactSynonym RAEB-II NCIT:C7168 Myelodysplastic Syndrome/Acute Myeloid Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RAEB-II NCIT:C7168 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0015044 mu-heavy chain disease oio:hasExactSynonym mu heavy chain disease mu heavy chain disease Mu heavy chain disease NCIT:C3892 Mu Heavy Chain Disease confirmed mu heavy chain disease NCIT:C3892 NCIT MONDO:0015044 mu-heavy chain disease oio:hasExactSynonym mu heavy chain disease mu heavy chain disease Mu Heavy Chain Disease NCIT:C3892 Mu Heavy Chain Disease confirmed mu heavy chain disease NCIT:C3892 NCIT -MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Alpha heavy chain disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Alpha heavy chain disease NCIT:C3132 NCIT +MONDO:0015044 mu-heavy chain disease oio:hasExactSynonym mu heavy chain disease mu heavy chain disease Mu heavy chain disease NCIT:C3892 Mu Heavy Chain Disease confirmed mu heavy chain disease NCIT:C3892 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Alpha heavy chain disease Alpha heavy chain disease Alpha Heavy Chain Disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Alpha heavy chain disease NCIT:C3132 NCIT +MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Alpha heavy chain disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Alpha heavy chain disease NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease Immunoproliferative small intestinal disease Immunoproliferative Small Intestinal Disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Immunoproliferative small intestinal disease NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Immunoproliferative small intestinal disease NCIT:C3132 Alpha Heavy Chain Disease confirmed Immunoproliferative small intestinal disease NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean abdominal lymphoma Mediterranean abdominal lymphoma Mediterranean Abdominal Lymphoma NCIT:C3132 Alpha Heavy Chain Disease confirmed Mediterranean abdominal lymphoma NCIT:C3132 NCIT -MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma Mediterranean lymphoma Mediterranean Lymphoma NCIT:C3132 Alpha Heavy Chain Disease confirmed Mediterranean lymphoma NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma NCIT:C3132 Alpha Heavy Chain Disease confirmed Mediterranean lymphoma NCIT:C3132 NCIT +MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym Mediterranean lymphoma Mediterranean lymphoma Mediterranean Lymphoma NCIT:C3132 Alpha Heavy Chain Disease confirmed Mediterranean lymphoma NCIT:C3132 NCIT MONDO:0015045 alpha-heavy chain disease oio:hasExactSynonym IPSID NCIT:C3132 Alpha Heavy Chain Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IPSID NCIT:C3132 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin disease NCIT:C3083 Gamma Heavy Chain Disease confirmed Franklin disease NCIT:C3083 NCIT MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin disease Franklin disease Franklin Disease NCIT:C3083 Gamma Heavy Chain Disease confirmed Franklin disease NCIT:C3083 NCIT +MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin disease NCIT:C3083 Gamma Heavy Chain Disease confirmed Franklin disease NCIT:C3083 NCIT MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym Franklin's disease Franklin's disease Franklin's Disease NCIT:C3083 Gamma Heavy Chain Disease confirmed Franklin's disease NCIT:C3083 NCIT -MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma heavy chain disease NCIT:C3083 Gamma Heavy Chain Disease confirmed gamma heavy chain disease NCIT:C3083 NCIT MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma Heavy Chain Disease NCIT:C3083 Gamma Heavy Chain Disease confirmed gamma heavy chain disease NCIT:C3083 NCIT +MONDO:0015046 gamma-heavy chain disease oio:hasExactSynonym gamma heavy chain disease gamma heavy chain disease Gamma heavy chain disease NCIT:C3083 Gamma Heavy Chain Disease confirmed gamma heavy chain disease NCIT:C3083 NCIT MONDO:0015059 progressive non-fluent aphasia oio:hasExactSynonym Primary Progressive Nonfluent aphasia Primary Progressive Nonfluent aphasia Primary Progressive Nonfluent Aphasia NCIT:C85025 Primary Progressive Nonfluent Aphasia confirmed Primary Progressive Nonfluent aphasia NCIT:C85025 NCIT MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym gastric NET gastric NET Gastric NET NCIT:C95871 Gastric Neuroendocrine Tumor confirmed gastric NET NCIT:C95871 NCIT MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade oio:hasExactSynonym gastric neuroendocrine tumor gastric neuroendocrine tumor Gastric Neuroendocrine Tumor NCIT:C95871 Gastric Neuroendocrine Tumor confirmed gastric neuroendocrine tumor NCIT:C95871 NCIT @@ -97117,8 +97117,8 @@ MONDO:0015263 Brugada syndrome oio:hasExactSynonym right bundle branch block, S MONDO:0015263 Brugada syndrome oio:hasExactSynonym Brugada syndrome Brugada syndrome Brugada Syndrome NCIT:C142891 Brugada Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Brugada syndrome NCIT:C142891 NCIT MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym bronchiolitis obliterans organizing pneumonia bronchiolitis obliterans organizing pneumonia Bronchiolitis Obliterans Organizing Pneumonia NCIT:C62586 Cryptogenic Organizing Pneumonia confirmed bronchiolitis obliterans organizing pneumonia NCIT:C62586 NCIT MONDO:0015264 cryptogenic organizing pneumonia oio:hasExactSynonym COP NCIT:C62586 Cryptogenic Organizing Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed COP NCIT:C62586 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym C cell carcinoma C cell carcinoma C Cell Carcinoma NCIT:C3879 Thyroid Gland Medullary Carcinoma confirmed C cell carcinoma NCIT:C3879 NCIT MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym C cell carcinoma NCIT:C3879 Thyroid Gland Medullary Carcinoma confirmed C cell carcinoma NCIT:C3879 NCIT +MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym C cell carcinoma C cell carcinoma C Cell Carcinoma NCIT:C3879 Thyroid Gland Medullary Carcinoma confirmed C cell carcinoma NCIT:C3879 NCIT MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym carcinoma, C-cell, malignant carcinoma, C-cell, malignant CARCINOMA, C-CELL, MALIGNANT NCIT:C3879 Thyroid Gland Medullary Carcinoma confirmed carcinoma, C-cell, malignant NCIT:C3879 NCIT MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym medullary carcinoma medullary carcinoma Medullary Carcinoma NCIT:C3879 Thyroid Gland Medullary Carcinoma confirmed medullary carcinoma NCIT:C3879 NCIT MONDO:0015277 medullary thyroid gland carcinoma oio:hasExactSynonym medullary carcinoma of the thyroid medullary carcinoma of the thyroid Medullary Carcinoma of the Thyroid NCIT:C3879 Thyroid Gland Medullary Carcinoma confirmed medullary carcinoma of the thyroid NCIT:C3879 NCIT @@ -97231,8 +97231,8 @@ MONDO:0015564 Castleman disease oio:hasExactSynonym AFLH NCIT:C3056 Castleman MONDO:0015564 Castleman disease oio:hasExactSynonym GLNH NCIT:C3056 Castleman Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GLNH NCIT:C3056 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym Palmoplantar Pustulosis NCIT:C34888 Palmoplantar Pustulosis confirmed Palmoplantar Pustulosis NCIT:C34888 NCIT MONDO:0015597 pustulosis palmaris et plantaris oio:hasExactSynonym palmoplantar pustulosis palmoplantar pustulosis Palmoplantar Pustulosis NCIT:C34888 Palmoplantar Pustulosis confirmed palmoplantar pustulosis NCIT:C34888 NCIT -MONDO:0015612 Dent disease oio:hasExactSynonym X-linked recessive hypophosphatemic rickets X-linked recessive hypophosphatemic rickets X-Linked Recessive Hypophosphatemic Rickets NCIT:C123260 Dent Disease confirmed X-linked recessive hypophosphatemic rickets NCIT:C123260 NCIT MONDO:0015612 Dent disease oio:hasExactSynonym X-linked recessive hypophosphatemic rickets X-linked recessive hypophosphatemic rickets X-linked Recessive Hypophosphatemic Rickets NCIT:C123260 Dent Disease confirmed X-linked recessive hypophosphatemic rickets NCIT:C123260 NCIT +MONDO:0015612 Dent disease oio:hasExactSynonym X-linked recessive hypophosphatemic rickets X-linked recessive hypophosphatemic rickets X-Linked Recessive Hypophosphatemic Rickets NCIT:C123260 Dent Disease confirmed X-linked recessive hypophosphatemic rickets NCIT:C123260 NCIT MONDO:0015614 dermatitis herpetiformis oio:hasExactSynonym dermatitis herpetiformis dermatitis herpetiformis Dermatitis Herpetiformis NCIT:C26742 Dermatitis Herpetiformis confirmed dermatitis herpetiformis NCIT:C26742 NCIT MONDO:0015626 Charcot-Marie-Tooth disease oio:hasExactSynonym Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth Disease NCIT:C75467 Charcot-Marie-Tooth Disease http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Charcot-Marie-Tooth disease NCIT:C75467 NCIT MONDO:0015628 von Willebrand disease type 2A oio:hasExactSynonym von Willebrand disease, type 2A von Willebrand disease, type 2A von Willebrand Disease, Type 2A NCIT:C131686 von Willebrand Disease, Type 2A confirmed von Willebrand disease, type 2A NCIT:C131686 NCIT @@ -97250,8 +97250,8 @@ MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym acute myeloid leukemia NOS acute myeloid leukemia NOS Acute Myeloid Leukemia NOS NCIT:C27753 Acute Myeloid Leukemia, Not Otherwise Specified confirmed acute myeloid leukemia NOS NCIT:C27753 NCIT MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym acute myeloid leukemia not otherwise categorized acute myeloid leukemia not otherwise categorized Acute Myeloid Leukemia Not Otherwise Categorized NCIT:C27753 Acute Myeloid Leukemia, Not Otherwise Specified confirmed acute myeloid leukemia not otherwise categorized NCIT:C27753 NCIT MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym acute myeloid leukemia not otherwise specified acute myeloid leukemia not otherwise specified Acute Myeloid Leukemia Not Otherwise Specified NCIT:C27753 Acute Myeloid Leukemia, Not Otherwise Specified confirmed acute myeloid leukemia not otherwise specified NCIT:C27753 NCIT -MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym acute myeloid leukemia, NOS acute myeloid leukemia, NOS Acute Myeloid Leukemia, NOS NCIT:C27753 Acute Myeloid Leukemia, Not Otherwise Specified confirmed acute myeloid leukemia, NOS NCIT:C27753 NCIT MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym acute myeloid leukemia, NOS acute myeloid leukemia, NOS Acute myeloid leukemia, NOS NCIT:C27753 Acute Myeloid Leukemia, Not Otherwise Specified confirmed acute myeloid leukemia, NOS NCIT:C27753 NCIT +MONDO:0015667 acute myeloid leukemia by FAB classification oio:hasExactSynonym acute myeloid leukemia, NOS acute myeloid leukemia, NOS Acute Myeloid Leukemia, NOS NCIT:C27753 Acute Myeloid Leukemia, Not Otherwise Specified confirmed acute myeloid leukemia, NOS NCIT:C27753 NCIT MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym primary peritoneal cancer primary peritoneal cancer Primary Peritoneal Cancer NCIT:C40022 Primary Peritoneal Carcinoma confirmed primary peritoneal cancer NCIT:C40022 NCIT MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym primary peritoneal carcinoma primary peritoneal carcinoma Primary Peritoneal Carcinoma NCIT:C40022 Primary Peritoneal Carcinoma confirmed primary peritoneal carcinoma NCIT:C40022 NCIT MONDO:0015686 primary peritoneal carcinoma oio:hasExactSynonym PPC NCIT:C40022 Primary Peritoneal Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PPC NCIT:C40022 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -97262,15 +97262,15 @@ MONDO:0015687 chronic eosinophilic leukemia oio:hasExactSynonym CEL NCIT:C456 MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 Myeloid and Lymphoid Neoplasms with Eosinophilia and Abnormalities of PDGFRA, PDGFRB, or FGFR1 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions confirmed myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 NCIT:C84270 NCIT MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions confirmed myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 NCIT MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 oio:hasExactSynonym myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 Myeloid/Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene Fusions confirmed myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 NCIT:C84270 NCIT -MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement confirmed myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 NCIT MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement confirmed myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 NCIT +MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRA rearrangement myeloid and lymphoid neoplasms with PDGFRA rearrangement Myeloid and Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement confirmed myeloid and lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 NCIT MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PDGFRA rearrangement myeloid/lymphoid neoplasms with PDGFRA rearrangement Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement NCIT:C84275 Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement confirmed myeloid/lymphoid neoplasms with PDGFRA rearrangement NCIT:C84275 NCIT MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid and lymphoid neoplasms with PDGFRB rearrangement myeloid and lymphoid neoplasms with PDGFRB rearrangement Myeloid and Lymphoid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement confirmed myeloid and lymphoid neoplasms with PDGFRB rearrangement NCIT:C84276 NCIT MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement confirmed myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 NCIT MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid neoplasms with PDGFRB rearrangement myeloid neoplasms with PDGFRB rearrangement Myeloid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement confirmed myeloid neoplasms with PDGFRB rearrangement NCIT:C84276 NCIT MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement oio:hasExactSynonym myeloid/lymphoid neoplasms with PDGFRB rearrangement myeloid/lymphoid neoplasms with PDGFRB rearrangement Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement NCIT:C84276 Myeloid/Lymphoid Neoplasms with PDGFRB Rearrangement confirmed myeloid/lymphoid neoplasms with PDGFRB rearrangement NCIT:C84276 NCIT -MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome confirmed hypereosinophilic syndrome NCIT:C27038 NCIT MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic Syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome confirmed hypereosinophilic syndrome NCIT:C27038 NCIT +MONDO:0015691 hypereosinophilic syndrome oio:hasExactSynonym hypereosinophilic syndrome hypereosinophilic syndrome Hypereosinophilic syndrome NCIT:C27038 Idiopathic Hypereosinophilic Syndrome confirmed hypereosinophilic syndrome NCIT:C27038 NCIT MONDO:0015692 refractory anemia with excess blasts in transformation oio:hasExactSynonym RAEB-T RAEB-t RAEB-T NCIT:C27080 Refractory Anemia with Excess Blasts in Transformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RAEB-T NCIT:C27080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015692 refractory anemia with excess blasts in transformation oio:hasExactSynonym RAEB-T NCIT:C27080 Refractory Anemia with Excess Blasts in Transformation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RAEB-T NCIT:C27080 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015698 transient hypogammaglobulinemia of infancy oio:hasExactSynonym transient hypogammaglobulinemia of infancy transient hypogammaglobulinemia of infancy Transient Hypogammaglobulinemia of Infancy NCIT:C27071 Transient Hypogammaglobulinemia of Infancy confirmed transient hypogammaglobulinemia of infancy NCIT:C27071 NCIT @@ -97306,26 +97306,26 @@ MONDO:0015792 transient congenital hypothyroidism oio:hasExactSynonym transient MONDO:0015792 transient congenital hypothyroidism oio:hasExactSynonym THOP NCIT:C113171 Transient Hypothyroxinemia of Prematurity http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed THOP NCIT:C113171 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym inflammatory fibrosarcoma inflammatory fibrosarcoma Inflammatory Fibrosarcoma NCIT:C6481 Inflammatory Myofibroblastic Tumor confirmed inflammatory fibrosarcoma NCIT:C6481 NCIT MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym inflammatory myofibroblastic neoplasm inflammatory myofibroblastic neoplasm Inflammatory Myofibroblastic Neoplasm NCIT:C6481 Inflammatory Myofibroblastic Tumor confirmed inflammatory myofibroblastic neoplasm NCIT:C6481 NCIT -MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor Inflammatory myofibroblastic tumor NCIT:C6481 Inflammatory Myofibroblastic Tumor confirmed inflammatory myofibroblastic tumor NCIT:C6481 NCIT MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor Inflammatory Myofibroblastic Tumor NCIT:C6481 Inflammatory Myofibroblastic Tumor confirmed inflammatory myofibroblastic tumor NCIT:C6481 NCIT +MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym inflammatory myofibroblastic tumor inflammatory myofibroblastic tumor Inflammatory myofibroblastic tumor NCIT:C6481 Inflammatory Myofibroblastic Tumor confirmed inflammatory myofibroblastic tumor NCIT:C6481 NCIT MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym inflammatory pseudotumor inflammatory pseudotumor Inflammatory Pseudotumor NCIT:C6481 Inflammatory Myofibroblastic Tumor confirmed inflammatory pseudotumor NCIT:C6481 NCIT MONDO:0015798 inflammatory myofibroblastic tumor oio:hasExactSynonym IMT NCIT:C6481 Inflammatory Myofibroblastic Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed IMT NCIT:C6481 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015806 adult intestinal botulism oio:hasExactSynonym adult intestinal toxemia botulism adult intestinal toxemia botulism Adult Intestinal Toxemia Botulism NCIT:C128344 Adult Intestinal Botulism confirmed adult intestinal toxemia botulism NCIT:C128344 NCIT MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym follicular mycosis fungoides follicular mycosis fungoides Follicular Mycosis Fungoides NCIT:C35685 Folliculotropic Mycosis Fungoides confirmed follicular mycosis fungoides NCIT:C35685 NCIT MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym folliculotropic mycosis fungoides folliculotropic mycosis fungoides Folliculotropic Mycosis Fungoides NCIT:C35685 Folliculotropic Mycosis Fungoides confirmed folliculotropic mycosis fungoides NCIT:C35685 NCIT MONDO:0015808 folliculotropic mycosis fungoides oio:hasExactSynonym mycosis fungoides-associated follicular mucinosis mycosis fungoides-associated follicular mucinosis Mycosis Fungoides-Associated Follicular Mucinosis NCIT:C35685 Folliculotropic Mycosis Fungoides confirmed mycosis fungoides-associated follicular mucinosis NCIT:C35685 NCIT -MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid Reticulosis NCIT:C35794 Pagetoid Reticulosis confirmed pagetoid reticulosis NCIT:C35794 NCIT MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid reticulosis NCIT:C35794 Pagetoid Reticulosis confirmed pagetoid reticulosis NCIT:C35794 NCIT +MONDO:0015809 localized pagetoid reticulosis oio:hasExactSynonym pagetoid reticulosis pagetoid reticulosis Pagetoid Reticulosis NCIT:C35794 Pagetoid Reticulosis confirmed pagetoid reticulosis NCIT:C35794 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone B Cell Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue Primary Cutaneous Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym cutaneous Immunocytoma cutaneous Immunocytoma Cutaneous Immunocytoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed cutaneous Immunocytoma NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym marginal zone B cell lymphoma of skin marginal zone B cell lymphoma of skin Marginal Zone B Cell Lymphoma of Skin NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed marginal zone B cell lymphoma of skin NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym marginal zone B cell lymphoma of the skin marginal zone B cell lymphoma of the skin Marginal Zone B Cell Lymphoma of the Skin NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed marginal zone B cell lymphoma of the skin NCIT:C7230 NCIT -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed salt lymphoma NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT Lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed salt lymphoma NCIT:C7230 NCIT -MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-Associated Lymphoid Tissue Lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed skin-associated lymphoid tissue lymphoma NCIT:C7230 NCIT +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym salt lymphoma salt lymphoma SALT lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed salt lymphoma NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-associated lymphoid tissue lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed skin-associated lymphoid tissue lymphoma NCIT:C7230 NCIT +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym skin-associated lymphoid tissue lymphoma skin-associated lymphoid tissue lymphoma Skin-Associated Lymphoid Tissue Lymphoma NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder confirmed skin-associated lymphoid tissue lymphoma NCIT:C7230 NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym C-MALT NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed C-MALT NCIT:C7230 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma oio:hasExactSynonym PCMZL NCIT:C7230 Primary Cutaneous Marginal Zone Lymphoproliferative Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PCMZL NCIT:C7230 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0015814 primary cutaneous follicle center lymphoma oio:hasExactSynonym Crosti's disease Crosti's disease Crosti's Disease NCIT:C7217 Primary Cutaneous Follicle Center Lymphoma confirmed Crosti's disease NCIT:C7217 NCIT @@ -97445,10 +97445,10 @@ MONDO:0016222 spindle cell hemangioma oio:hasExactSynonym SCH NCIT:C4754 Spin MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma confirmed Kaposiform hemangioendothelioma NCIT:C27510 NCIT MONDO:0016236 kaposiform hemangioendothelioma oio:hasExactSynonym Kaposiform hemangioendothelioma Kaposiform hemangioendothelioma Kaposiform Hemangioendothelioma NCIT:C27510 Kaposiform Hemangioendothelioma confirmed Kaposiform hemangioendothelioma NCIT:C27510 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous mesothelioma localized fibrous mesothelioma Localized Fibrous Mesothelioma NCIT:C7634 Solitary Fibrous Tumor confirmed localized fibrous mesothelioma NCIT:C7634 NCIT -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor confirmed localized fibrous tumor NCIT:C7634 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized fibrous tumor NCIT:C7634 Solitary Fibrous Tumor confirmed localized fibrous tumor NCIT:C7634 NCIT -MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor confirmed solitary fibrous tumor NCIT:C7634 NCIT +MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym localized fibrous tumor localized fibrous tumor Localized Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor confirmed localized fibrous tumor NCIT:C7634 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary fibrous tumor NCIT:C7634 Solitary Fibrous Tumor confirmed solitary fibrous tumor NCIT:C7634 NCIT +MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym solitary fibrous tumor solitary fibrous tumor Solitary Fibrous Tumor NCIT:C7634 Solitary Fibrous Tumor confirmed solitary fibrous tumor NCIT:C7634 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym submesothelial fibroma submesothelial fibroma Submesothelial Fibroma NCIT:C7634 Solitary Fibrous Tumor confirmed submesothelial fibroma NCIT:C7634 NCIT MONDO:0016238 solitary fibrous tumor oio:hasExactSynonym SFT NCIT:C7634 Solitary Fibrous Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SFT NCIT:C7634 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016239 cystinosis oio:hasExactSynonym cystinosis cystinosis Cystinosis NCIT:C2976 Cystinosis http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed cystinosis NCIT:C2976 NCIT @@ -97578,10 +97578,10 @@ MONDO:0016576 split hand-foot malformation oio:hasExactSynonym split-hand/foot MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym congenital cystic adenomatoid malformation of lung congenital cystic adenomatoid malformation of lung Congenital Cystic Adenomatoid Malformation of Lung NCIT:C98892 Congenital Cystic Adenomatoid Malformation of the Lung confirmed congenital cystic adenomatoid malformation of lung NCIT:C98892 NCIT MONDO:0016580 congenital pulmonary airway malformation oio:hasExactSynonym congenital cystic adenomatoid malformation of the lung congenital cystic adenomatoid malformation of the lung Congenital Cystic Adenomatoid Malformation of the Lung NCIT:C98892 Congenital Cystic Adenomatoid Malformation of the Lung confirmed congenital cystic adenomatoid malformation of the lung NCIT:C98892 NCIT MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic mastocytosis systemic mastocytosis Systemic Mastocytosis NCIT:C9235 Systemic Mastocytosis confirmed systemic mastocytosis NCIT:C9235 NCIT -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue Mast cell disease NCIT:C9235 NCIT MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue Mast cell disease NCIT:C9235 NCIT -MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue mast cell disease NCIT:C9235 NCIT +MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue Mast cell disease systemic tissue Mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue Mast cell disease NCIT:C9235 NCIT MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic Tissue Mast Cell Disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue mast cell disease NCIT:C9235 NCIT +MONDO:0016586 systemic mastocytosis oio:hasExactSynonym systemic tissue mast cell disease systemic tissue mast cell disease Systemic tissue mast cell disease NCIT:C9235 Systemic Mastocytosis confirmed systemic tissue mast cell disease NCIT:C9235 NCIT MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym arrhythmogenic RVD arrhythmogenic RVD Arrhythmogenic RVD NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia confirmed arrhythmogenic RVD NCIT:C84571 NCIT MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia Arrhythmogenic Right Ventricular Dysplasia NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia confirmed arrhythmogenic right ventricular dysplasia NCIT:C84571 NCIT MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy oio:hasExactSynonym right ventricular dysplasia right ventricular dysplasia Right Ventricular Dysplasia NCIT:C84571 Arrhythmogenic Right Ventricular Dysplasia confirmed right ventricular dysplasia NCIT:C84571 NCIT @@ -97608,8 +97608,8 @@ MONDO:0016681 gliosarcoma oio:hasExactSynonym glioblastoma with a sarcomatous c MONDO:0016681 gliosarcoma oio:hasExactSynonym gliosarcoma gliosarcoma Gliosarcoma NCIT:C3796 Gliosarcoma confirmed gliosarcoma NCIT:C3796 NCIT MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym astrocytosis cerebri astrocytosis cerebri Astrocytosis cerebri NCIT:C4318 Gliomatosis Cerebri confirmed astrocytosis cerebri NCIT:C4318 NCIT MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis gliomatosis Gliomatosis NCIT:C4318 Gliomatosis Cerebri confirmed gliomatosis NCIT:C4318 NCIT -MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis cerebri gliomatosis cerebri Gliomatosis Cerebri NCIT:C4318 Gliomatosis Cerebri confirmed gliomatosis cerebri NCIT:C4318 NCIT MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis cerebri gliomatosis cerebri Gliomatosis cerebri NCIT:C4318 Gliomatosis Cerebri confirmed gliomatosis cerebri NCIT:C4318 NCIT +MONDO:0016683 gliomatosis cerebri oio:hasExactSynonym gliomatosis cerebri gliomatosis cerebri Gliomatosis Cerebri NCIT:C4318 Gliomatosis Cerebri confirmed gliomatosis cerebri NCIT:C4318 NCIT MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym anaplastic astrocytoma anaplastic astrocytoma Anaplastic Astrocytoma NCIT:C9477 Anaplastic Astrocytoma confirmed anaplastic astrocytoma NCIT:C9477 NCIT MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym grade III astrocytic neoplasm grade III astrocytic neoplasm Grade III Astrocytic Neoplasm NCIT:C9477 Anaplastic Astrocytoma confirmed grade III astrocytic neoplasm NCIT:C9477 NCIT MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym grade III astrocytic tumor grade III astrocytic tumor Grade III Astrocytic Tumor NCIT:C9477 Anaplastic Astrocytoma confirmed grade III astrocytic tumor NCIT:C9477 NCIT @@ -97618,18 +97618,18 @@ MONDO:0016684 anaplastic astrocytoma oio:hasExactSynonym malignant astrocytoma MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym WHO grade II astrocytoma WHO grade II astrocytoma WHO Grade II Astrocytoma NCIT:C7173 Diffuse Astrocytoma confirmed WHO grade II astrocytoma NCIT:C7173 NCIT MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym astrocytoma, diffuse astrocytoma, diffuse Astrocytoma, Diffuse NCIT:C7173 Diffuse Astrocytoma confirmed astrocytoma, diffuse NCIT:C7173 NCIT MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym astrocytoma, diffuse, malignant astrocytoma, diffuse, malignant ASTROCYTOMA, DIFFUSE, MALIGNANT NCIT:C7173 Diffuse Astrocytoma confirmed astrocytoma, diffuse, malignant NCIT:C7173 NCIT -MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym diffuse astrocytoma diffuse astrocytoma Diffuse Astrocytoma NCIT:C7173 Diffuse Astrocytoma confirmed diffuse astrocytoma NCIT:C7173 NCIT MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym diffuse astrocytoma diffuse astrocytoma Diffuse astrocytoma NCIT:C7173 Diffuse Astrocytoma confirmed diffuse astrocytoma NCIT:C7173 NCIT +MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym diffuse astrocytoma diffuse astrocytoma Diffuse Astrocytoma NCIT:C7173 Diffuse Astrocytoma confirmed diffuse astrocytoma NCIT:C7173 NCIT MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym grade II astrocytic neoplasm grade II astrocytic neoplasm Grade II Astrocytic Neoplasm NCIT:C7173 Diffuse Astrocytoma confirmed grade II astrocytic neoplasm NCIT:C7173 NCIT MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym grade II astrocytic tumor grade II astrocytic tumor Grade II Astrocytic Tumor NCIT:C7173 Diffuse Astrocytoma confirmed grade II astrocytic tumor NCIT:C7173 NCIT MONDO:0016686 diffuse astrocytoma oio:hasExactSynonym grade II astrocytoma grade II astrocytoma Grade II Astrocytoma NCIT:C7173 Diffuse Astrocytoma confirmed grade II astrocytoma NCIT:C7173 NCIT -MONDO:0016687 protoplasmic astrocytoma oio:hasExactSynonym protoplasmic astrocytoma protoplasmic astrocytoma Protoplasmic Astrocytoma NCIT:C4320 Protoplasmic Astrocytoma confirmed protoplasmic astrocytoma NCIT:C4320 NCIT MONDO:0016687 protoplasmic astrocytoma oio:hasExactSynonym protoplasmic astrocytoma protoplasmic astrocytoma Protoplasmic astrocytoma NCIT:C4320 Protoplasmic Astrocytoma confirmed protoplasmic astrocytoma NCIT:C4320 NCIT -MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary Astrocytoma NCIT:C4322 Fibrillary Astrocytoma confirmed fibrillary astrocytoma NCIT:C4322 NCIT +MONDO:0016687 protoplasmic astrocytoma oio:hasExactSynonym protoplasmic astrocytoma protoplasmic astrocytoma Protoplasmic Astrocytoma NCIT:C4320 Protoplasmic Astrocytoma confirmed protoplasmic astrocytoma NCIT:C4320 NCIT MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary astrocytoma NCIT:C4322 Fibrillary Astrocytoma confirmed fibrillary astrocytoma NCIT:C4322 NCIT +MONDO:0016688 fibrillary astrocytoma oio:hasExactSynonym fibrillary astrocytoma fibrillary astrocytoma Fibrillary Astrocytoma NCIT:C4322 Fibrillary Astrocytoma confirmed fibrillary astrocytoma NCIT:C4322 NCIT MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym Gemistocytoma NCIT:C4321 Gemistocytic Astrocytoma confirmed Gemistocytoma NCIT:C4321 NCIT -MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic astrocytoma NCIT:C4321 Gemistocytic Astrocytoma confirmed gemistocytic astrocytoma NCIT:C4321 NCIT MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic Astrocytoma NCIT:C4321 Gemistocytic Astrocytoma confirmed gemistocytic astrocytoma NCIT:C4321 NCIT +MONDO:0016689 gemistocytic astrocytoma oio:hasExactSynonym gemistocytic astrocytoma gemistocytic astrocytoma Gemistocytic astrocytoma NCIT:C4321 Gemistocytic Astrocytoma confirmed gemistocytic astrocytoma NCIT:C4321 NCIT MONDO:0016690 pleomorphic xanthoastrocytoma oio:hasExactSynonym pleomorphic Xantho-astrocytoma pleomorphic Xantho-astrocytoma Pleomorphic Xantho-Astrocytoma NCIT:C4323 Pleomorphic Xanthoastrocytoma confirmed pleomorphic Xantho-astrocytoma NCIT:C4323 NCIT MONDO:0016690 pleomorphic xanthoastrocytoma oio:hasExactSynonym PXA NCIT:C4323 Pleomorphic Xanthoastrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PXA NCIT:C4323 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0016691 pilocytic astrocytoma oio:hasExactSynonym grade I astrocytic neoplasm grade I astrocytic neoplasm Grade I Astrocytic Neoplasm NCIT:C4047 Pilocytic Astrocytoma confirmed grade I astrocytic neoplasm NCIT:C4047 NCIT @@ -97653,8 +97653,8 @@ MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym oligodendrogliom MONDO:0016696 anaplastic oligodendroglioma oio:hasExactSynonym undifferentiated oligodendroglioma undifferentiated oligodendroglioma Undifferentiated Oligodendroglioma NCIT:C4326 Anaplastic Oligodendroglioma confirmed undifferentiated oligodendroglioma NCIT:C4326 NCIT MONDO:0016698 ependymoma oio:hasExactSynonym ependymoma ependymoma Ependymoma NCIT:C3017 Ependymoma confirmed ependymoma NCIT:C3017 NCIT MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym ependymoma, benign ependymoma, benign EPENDYMOMA, BENIGN NCIT:C3697 Myxopapillary Ependymoma confirmed ependymoma, benign NCIT:C3697 NCIT -MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym myxopapillary ependymoma myxopapillary ependymoma Myxopapillary ependymoma NCIT:C3697 Myxopapillary Ependymoma confirmed myxopapillary ependymoma NCIT:C3697 NCIT MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym myxopapillary ependymoma myxopapillary ependymoma Myxopapillary Ependymoma NCIT:C3697 Myxopapillary Ependymoma confirmed myxopapillary ependymoma NCIT:C3697 NCIT +MONDO:0016699 myxopapillary ependymoma oio:hasExactSynonym myxopapillary ependymoma myxopapillary ependymoma Myxopapillary ependymoma NCIT:C3697 Myxopapillary Ependymoma confirmed myxopapillary ependymoma NCIT:C3697 NCIT MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym WHO grade III ependymal neoplasm WHO grade III ependymal neoplasm WHO Grade III Ependymal Neoplasm NCIT:C4049 Anaplastic Ependymoma confirmed WHO grade III ependymal neoplasm NCIT:C4049 NCIT MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym WHO grade III ependymal tumor WHO grade III ependymal tumor WHO Grade III Ependymal Tumor NCIT:C4049 Anaplastic Ependymoma confirmed WHO grade III ependymal tumor NCIT:C4049 NCIT MONDO:0016700 anaplastic ependymoma oio:hasExactSynonym anaplastic ependymal neoplasm anaplastic ependymal neoplasm Anaplastic Ependymal Neoplasm NCIT:C4049 Anaplastic Ependymoma confirmed anaplastic ependymal neoplasm NCIT:C4049 NCIT @@ -97684,22 +97684,22 @@ MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordo MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the 3rd ventricle chordoid glioma of the 3rd ventricle Chordoid Glioma of the 3rd Ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of the 3rd ventricle NCIT:C5592 NCIT MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the third ventricle chordoid glioma of the third ventricle Chordoid Glioma of the Third Ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of the third ventricle NCIT:C5592 NCIT MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of the third ventricle (WHO grade II) chordoid glioma of the third ventricle (WHO grade II) Chordoid Glioma of the Third Ventricle (WHO Grade II) NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of the third ventricle (WHO grade II) NCIT:C5592 NCIT -MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid Glioma of Third Ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of third ventricle NCIT:C5592 NCIT MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid glioma of third ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of third ventricle NCIT:C5592 NCIT +MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym chordoid glioma of third ventricle chordoid glioma of third ventricle Chordoid Glioma of Third Ventricle NCIT:C5592 Chordoid Glioma confirmed chordoid glioma of third ventricle NCIT:C5592 NCIT MONDO:0016706 chordoid glioma of the third ventricle oio:hasExactSynonym third ventricle chordoid glioma third ventricle chordoid glioma Third Ventricle Chordoid Glioma NCIT:C5592 Chordoid Glioma confirmed third ventricle chordoid glioma NCIT:C5592 NCIT MONDO:0016707 astroblastoma oio:hasExactSynonym astroblastoma astroblastoma Astroblastoma NCIT:C4324 Astroblastoma, MN1-Altered confirmed astroblastoma NCIT:C4324 NCIT MONDO:0016709 anaplastic/large cell medulloblastoma oio:hasExactSynonym large cell/anaplastic medulloblastoma large cell/anaplastic medulloblastoma Large Cell/Anaplastic Medulloblastoma NCIT:C129436 Large Cell/Anaplastic Medulloblastoma confirmed large cell/anaplastic medulloblastoma NCIT:C129436 NCIT MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym cerebellar neuroblastoma cerebellar neuroblastoma Cerebellar Neuroblastoma NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed cerebellar neuroblastoma NCIT:C5407 NCIT -MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed medulloblastoma with extensive nodularity NCIT:C5407 NCIT MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with Extensive Nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed medulloblastoma with extensive nodularity NCIT:C5407 NCIT +MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed medulloblastoma with extensive nodularity NCIT:C5407 NCIT MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym medulloblastoma with extensive nodularity and advanced neuronal differentiation medulloblastoma with extensive nodularity and advanced neuronal differentiation Medulloblastoma with Extensive Nodularity and Advanced Neuronal Differentiation NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed medulloblastoma with extensive nodularity and advanced neuronal differentiation NCIT:C5407 NCIT MONDO:0016710 medulloblastoma with extensive nodularity oio:hasExactSynonym nodular medulloblastoma nodular medulloblastoma Nodular Medulloblastoma NCIT:C5407 Medulloblastoma with Extensive Nodularity confirmed nodular medulloblastoma NCIT:C5407 NCIT MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym Desmoplastic medulloblastoma Desmoplastic medulloblastoma Desmoplastic Medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma confirmed Desmoplastic medulloblastoma NCIT:C4956 NCIT MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym Desmoplastic medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma confirmed Desmoplastic medulloblastoma NCIT:C4956 NCIT MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym desmoplastic medulloblastoma desmoplastic medulloblastoma Desmoplastic Medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma confirmed desmoplastic medulloblastoma NCIT:C4956 NCIT MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym desmoplastic medulloblastoma desmoplastic medulloblastoma Desmoplastic medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma confirmed desmoplastic medulloblastoma NCIT:C4956 NCIT -MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym desmoplastic nodular medulloblastoma desmoplastic nodular medulloblastoma Desmoplastic Nodular Medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma confirmed desmoplastic nodular medulloblastoma NCIT:C4956 NCIT MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym desmoplastic nodular medulloblastoma desmoplastic nodular medulloblastoma Desmoplastic nodular medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma confirmed desmoplastic nodular medulloblastoma NCIT:C4956 NCIT +MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym desmoplastic nodular medulloblastoma desmoplastic nodular medulloblastoma Desmoplastic Nodular Medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma confirmed desmoplastic nodular medulloblastoma NCIT:C4956 NCIT MONDO:0016711 desmoplastic/nodular medulloblastoma oio:hasExactSynonym desmoplastic/nodular medulloblastoma desmoplastic/nodular medulloblastoma Desmoplastic/Nodular Medulloblastoma NCIT:C4956 Desmoplastic/Nodular Medulloblastoma confirmed desmoplastic/nodular medulloblastoma NCIT:C4956 NCIT MONDO:0016712 classic medulloblastoma oio:hasExactSynonym classic medulloblastoma classic medulloblastoma Classic Medulloblastoma NCIT:C54039 Classic Medulloblastoma confirmed classic medulloblastoma NCIT:C54039 NCIT MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor oio:hasExactSynonym central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor Central Nervous System Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor NCIT:C129537 Central Nervous System Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor confirmed central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor NCIT:C129537 NCIT @@ -97888,8 +97888,8 @@ MONDO:0017278 autoimmune polyendocrinopathy oio:hasExactSynonym autoimmune poly MONDO:0017285 penoscrotal transposition oio:hasExactSynonym congenital penoscrotal transposition congenital penoscrotal transposition Congenital Penoscrotal Transposition NCIT:C99010 Penoscrotal Transposition confirmed congenital penoscrotal transposition NCIT:C99010 NCIT MONDO:0017285 penoscrotal transposition oio:hasExactSynonym penoscrotal transposition penoscrotal transposition Penoscrotal Transposition NCIT:C99010 Penoscrotal Transposition confirmed penoscrotal transposition NCIT:C99010 NCIT MONDO:0017287 IgG4-related disease oio:hasExactSynonym IgG4-related sclerosing disease IgG4-related sclerosing disease IgG4-Related Sclerosing Disease NCIT:C95992 IgG4-Related Disease confirmed IgG4-related sclerosing disease NCIT:C95992 NCIT -MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal Adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma confirmed fetal adenocarcinoma NCIT:C45509 NCIT MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma confirmed fetal adenocarcinoma NCIT:C45509 NCIT +MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal adenocarcinoma fetal adenocarcinoma Fetal Adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma confirmed fetal adenocarcinoma NCIT:C45509 NCIT MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym fetal lung adenocarcinoma fetal lung adenocarcinoma Fetal Lung Adenocarcinoma NCIT:C45509 Lung Fetal Adenocarcinoma confirmed fetal lung adenocarcinoma NCIT:C45509 NCIT MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym pulmonary adenocarcinoma of fetal type pulmonary adenocarcinoma of fetal type Pulmonary Adenocarcinoma of Fetal Type NCIT:C45509 Lung Fetal Adenocarcinoma confirmed pulmonary adenocarcinoma of fetal type NCIT:C45509 NCIT MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung oio:hasExactSynonym pulmonary endodermal tumor resembling fetal lung pulmonary endodermal tumor resembling fetal lung Pulmonary Endodermal Tumor Resembling Fetal Lung NCIT:C45509 Lung Fetal Adenocarcinoma confirmed pulmonary endodermal tumor resembling fetal lung NCIT:C45509 NCIT @@ -97910,8 +97910,8 @@ MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the e MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly Epstein-Barr Virus Positive Diffuse Large B-Cell Lymphoma of the Elderly NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly NCIT:C80281 NCIT MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym Senile EBV-associated B-cell lymphoproliferative disorder Senile EBV-associated B-cell lymphoproliferative disorder Senile EBV-Associated B-Cell Lymphoproliferative Disorder NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed Senile EBV-associated B-cell lymphoproliferative disorder NCIT:C80281 NCIT MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oio:hasExactSynonym age-related EBV Positive B-cell lymphoproliferative disorder age-related EBV Positive B-cell lymphoproliferative disorder Age-Related EBV Positive B-Cell Lymphoproliferative Disorder NCIT:C80281 EBV-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified confirmed age-related EBV Positive B-cell lymphoproliferative disorder NCIT:C80281 NCIT -MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma NCIT:C7224 Plasmablastic Lymphoma confirmed Plasmablastic lymphoma NCIT:C7224 NCIT MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma Plasmablastic lymphoma Plasmablastic Lymphoma NCIT:C7224 Plasmablastic Lymphoma confirmed Plasmablastic lymphoma NCIT:C7224 NCIT +MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym Plasmablastic lymphoma NCIT:C7224 Plasmablastic Lymphoma confirmed Plasmablastic lymphoma NCIT:C7224 NCIT MONDO:0017347 plasmablastic lymphoma oio:hasExactSynonym PBL NCIT:C7224 Plasmablastic Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PBL NCIT:C7224 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017349 myopericytoma oio:hasExactSynonym solitary myofibroma solitary myofibroma Solitary Myofibroma NCIT:C50401 Myopericytoma confirmed solitary myofibroma NCIT:C50401 NCIT MONDO:0017361 congenital rubella syndrome oio:hasExactSynonym congenital rubella congenital rubella Congenital Rubella NCIT:C34992 Congenital Rubella confirmed congenital rubella NCIT:C34992 NCIT @@ -97930,8 +97930,8 @@ MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynony MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym migrating Partial seizures in infancy migrating Partial seizures in infancy Migrating Partial Seizures in Infancy NCIT:C125387 Migrating Partial Seizures in Infancy confirmed migrating Partial seizures in infancy NCIT:C125387 NCIT MONDO:0017385 malignant migrating partial seizures of infancy oio:hasExactSynonym MMPSI NCIT:C125387 Migrating Partial Seizures in Infancy http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MMPSI NCIT:C125387 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017386 pleomorphic rhabdomyosarcoma oio:hasExactSynonym pleomorphic rhabdomyosarcoma pleomorphic rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma NCIT:C4258 Pleomorphic Rhabdomyosarcoma confirmed pleomorphic rhabdomyosarcoma NCIT:C4258 NCIT -MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid cell sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid cell sarcoma NCIT:C3714 NCIT MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid Cell Sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid cell sarcoma NCIT:C3714 NCIT +MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid cell sarcoma epithelioid cell sarcoma Epithelioid cell sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid cell sarcoma NCIT:C3714 NCIT MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid Sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid sarcoma NCIT:C3714 NCIT MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym epithelioid sarcoma epithelioid sarcoma Epithelioid sarcoma NCIT:C3714 Epithelioid Sarcoma confirmed epithelioid sarcoma NCIT:C3714 NCIT MONDO:0017387 epithelioid sarcoma oio:hasExactSynonym ES NCIT:C3714 Epithelioid Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ES NCIT:C3714 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -97941,8 +97941,8 @@ MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventila MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation confirmed rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome NCIT:C121944 NCIT MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oio:hasExactSynonym ROHHAD NCIT:C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ROHHAD NCIT:C121944 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017409 fetal cytomegalovirus syndrome oio:hasExactSynonym congenital Cytomegaloviral infection congenital Cytomegaloviral infection Congenital Cytomegaloviral Infection NCIT:C122427 Congenital Cytomegaloviral Infection confirmed congenital Cytomegaloviral infection NCIT:C122427 NCIT -MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia Phocomelia NCIT:C34928 Phocomelia confirmed phocomelia NCIT:C34928 NCIT MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia PHOCOMELIA NCIT:C34928 Phocomelia confirmed phocomelia NCIT:C34928 NCIT +MONDO:0017441 congenital absence of upper arm and forearm with hand present oio:hasExactSynonym phocomelia phocomelia Phocomelia NCIT:C34928 Phocomelia confirmed phocomelia NCIT:C34928 NCIT MONDO:0017462 congenital pseudoarthrosis of the tibia oio:hasExactSynonym congenital pseudarthrosis of tibia congenital pseudarthrosis of tibia Congenital Pseudarthrosis of Tibia NCIT:C132080 Congenital Pseudarthrosis of Tibia confirmed congenital pseudarthrosis of tibia NCIT:C132080 NCIT MONDO:0017560 congenital genu recurvatum oio:hasExactSynonym genu recurvatum genu recurvatum Genu Recurvatum NCIT:C103184 Genu Recurvatum confirmed genu recurvatum NCIT:C103184 NCIT MONDO:0017560 congenital genu recurvatum oio:hasExactSynonym hyperextension deformity of knee hyperextension deformity of knee Hyperextension Deformity of Knee NCIT:C103184 Genu Recurvatum confirmed hyperextension deformity of knee NCIT:C103184 NCIT @@ -97995,8 +97995,8 @@ MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym marginal zone B-cell l MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym marginal zone lymphoma marginal zone lymphoma Marginal Zone Lymphoma NCIT:C4341 Marginal Zone Lymphoma confirmed marginal zone lymphoma NCIT:C4341 NCIT MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym MZBCL NCIT:C4341 Marginal Zone Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MZBCL NCIT:C4341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0017604 marginal zone lymphoma oio:hasExactSynonym MZL NCIT:C4341 Marginal Zone Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MZL NCIT:C4341 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0017607 caudal regression sequence oio:hasExactSynonym caudal dysplasia caudal dysplasia CAUDAL DYSPLASIA NCIT:C124505 Caudal Dysplasia confirmed caudal dysplasia NCIT:C124505 NCIT MONDO:0017607 caudal regression sequence oio:hasExactSynonym caudal dysplasia caudal dysplasia Caudal Dysplasia NCIT:C124505 Caudal Dysplasia confirmed caudal dysplasia NCIT:C124505 NCIT +MONDO:0017607 caudal regression sequence oio:hasExactSynonym caudal dysplasia caudal dysplasia CAUDAL DYSPLASIA NCIT:C124505 Caudal Dysplasia confirmed caudal dysplasia NCIT:C124505 NCIT MONDO:0017610 epidermolysis bullosa simplex oio:hasExactSynonym epidermolysis bullosa simplex epidermolysis bullosa simplex Epidermolysis Bullosa Simplex NCIT:C84692 Epidermolysis Bullosa Simplex confirmed epidermolysis bullosa simplex NCIT:C84692 NCIT MONDO:0017611 pituitary tumor oio:hasExactSynonym neoplasm of pituitary neoplasm of pituitary Neoplasm of Pituitary NCIT:C3330 Pituitary Gland Neoplasm confirmed neoplasm of pituitary NCIT:C3330 NCIT MONDO:0017611 pituitary tumor oio:hasExactSynonym neoplasm of pituitary gland neoplasm of pituitary gland Neoplasm of Pituitary Gland NCIT:C3330 Pituitary Gland Neoplasm confirmed neoplasm of pituitary gland NCIT:C3330 NCIT @@ -98040,8 +98040,8 @@ MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym congenital MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym pulmonary sequestration pulmonary sequestration Pulmonary Sequestration NCIT:C97124 Bronchopulmonary Sequestration confirmed pulmonary sequestration NCIT:C97124 NCIT MONDO:0017843 congenital pulmonary sequestration oio:hasExactSynonym sequestered lobe (pulmonary sequestration) sequestered lobe (pulmonary sequestration) Sequestered Lobe (Pulmonary Sequestration) NCIT:C97124 Bronchopulmonary Sequestration confirmed sequestered lobe (pulmonary sequestration) NCIT:C97124 NCIT MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary disease NCIT:C3366 Sezary Syndrome confirmed Sezary disease NCIT:C3366 NCIT -MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome Sezary syndrome Sezary Syndrome NCIT:C3366 Sezary Syndrome confirmed Sezary syndrome NCIT:C3366 NCIT MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome NCIT:C3366 Sezary Syndrome confirmed Sezary syndrome NCIT:C3366 NCIT +MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary syndrome Sezary syndrome Sezary Syndrome NCIT:C3366 Sezary Syndrome confirmed Sezary syndrome NCIT:C3366 NCIT MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sezary's disease Sezary's disease Sezary's Disease NCIT:C3366 Sezary Syndrome confirmed Sezary's disease NCIT:C3366 NCIT MONDO:0017844 Sezary syndrome oio:hasExactSynonym Sézary syndrome Sézary syndrome Sézary Syndrome NCIT:C3366 Sezary Syndrome confirmed Sézary syndrome NCIT:C3366 NCIT MONDO:0017850 sirenomelia oio:hasExactSynonym symmelia symmelia Symmelia NCIT:C118455 Sirenomelia confirmed symmelia NCIT:C118455 NCIT @@ -98063,8 +98063,8 @@ MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym chromophil car MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym chromophil renal cell carcinoma chromophil renal cell carcinoma Chromophil Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma confirmed chromophil renal cell carcinoma NCIT:C6975 NCIT MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary (chromophil) renal cell carcinoma papillary (chromophil) renal cell carcinoma Papillary (Chromophil) Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma confirmed papillary (chromophil) renal cell carcinoma NCIT:C6975 NCIT MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell cancer papillary renal cell cancer Papillary Renal Cell Cancer NCIT:C6975 Papillary Renal Cell Carcinoma confirmed papillary renal cell cancer NCIT:C6975 NCIT -MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary renal cell carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed papillary renal cell carcinoma NCIT:C6975 NCIT MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary Renal Cell Carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed papillary renal cell carcinoma NCIT:C6975 NCIT +MONDO:0017884 papillary renal cell carcinoma oio:hasExactSynonym papillary renal cell carcinoma papillary renal cell carcinoma Papillary renal cell carcinoma NCIT:C6975 Papillary Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed papillary renal cell carcinoma NCIT:C6975 NCIT MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe adenocarcinoma chromophobe adenocarcinoma Chromophobe adenocarcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed chromophobe adenocarcinoma NCIT:C4146 NCIT MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe adenocarcinoma chromophobe adenocarcinoma Chromophobe Adenocarcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed chromophobe adenocarcinoma NCIT:C4146 NCIT MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe carcinoma chromophobe carcinoma Chromophobe Carcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed chromophobe carcinoma NCIT:C4146 NCIT @@ -98075,15 +98075,15 @@ MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe cell carcinoma of the kidney chromophobe cell carcinoma of the kidney Chromophobe Cell Carcinoma of the Kidney NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed chromophobe cell carcinoma of the kidney NCIT:C4146 NCIT MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe renal cell cancer chromophobe renal cell cancer Chromophobe Renal Cell Cancer NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed chromophobe renal cell cancer NCIT:C4146 NCIT MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym chromophobe renal cell carcinoma chromophobe renal cell carcinoma Chromophobe Renal Cell Carcinoma NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed chromophobe renal cell carcinoma NCIT:C4146 NCIT -MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym renal cell carcinoma, chromophobe type renal cell carcinoma, chromophobe type Renal cell carcinoma, chromophobe type NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed renal cell carcinoma, chromophobe type NCIT:C4146 NCIT MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym renal cell carcinoma, chromophobe type renal cell carcinoma, chromophobe type Renal Cell Carcinoma, Chromophobe Type NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed renal cell carcinoma, chromophobe type NCIT:C4146 NCIT +MONDO:0017885 chromophobe renal cell carcinoma oio:hasExactSynonym renal cell carcinoma, chromophobe type renal cell carcinoma, chromophobe type Renal cell carcinoma, chromophobe type NCIT:C4146 Chromophobe Renal Cell Carcinoma confirmed renal cell carcinoma, chromophobe type NCIT:C4146 NCIT MONDO:0017887 renal cell carcinoma associated with neuroblastoma oio:hasExactSynonym renal cell cancer associated with neuroblastoma renal cell cancer associated with neuroblastoma Renal Cell Cancer Associated with Neuroblastoma NCIT:C100051 Renal Cell Carcinoma Associated with Neuroblastoma confirmed renal cell cancer associated with neuroblastoma NCIT:C100051 NCIT MONDO:0017887 renal cell carcinoma associated with neuroblastoma oio:hasExactSynonym renal cell carcinoma associated with neuroblastoma renal cell carcinoma associated with neuroblastoma Renal Cell Carcinoma Associated with Neuroblastoma NCIT:C100051 Renal Cell Carcinoma Associated with Neuroblastoma confirmed renal cell carcinoma associated with neuroblastoma NCIT:C100051 NCIT MONDO:0017890 tubulocystic renal cell carcinoma oio:hasExactSynonym Tubulocystic renal cell cancer Tubulocystic renal cell cancer Tubulocystic Renal Cell Cancer NCIT:C126303 Tubulocystic Renal Cell Carcinoma confirmed Tubulocystic renal cell cancer NCIT:C126303 NCIT MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations oio:hasExactSynonym AML with mutated CEBPA AML with mutated CEBPA AML with Mutated CEBPA NCIT:C82433 Acute Myeloid Leukemia with CEBPA Mutation confirmed AML with mutated CEBPA NCIT:C82433 NCIT MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations oio:hasExactSynonym AML with mutated CEBPA NCIT:C82433 Acute Myeloid Leukemia with CEBPA Mutation confirmed AML with mutated CEBPA NCIT:C82433 NCIT -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations oio:hasExactSynonym acute myeloid Leukemia with mutated CEBPA acute myeloid Leukemia with mutated CEBPA Acute myeloid leukemia with mutated CEBPA NCIT:C82433 Acute Myeloid Leukemia with CEBPA Mutation confirmed acute myeloid Leukemia with mutated CEBPA NCIT:C82433 NCIT MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations oio:hasExactSynonym acute myeloid Leukemia with mutated CEBPA acute myeloid Leukemia with mutated CEBPA Acute Myeloid Leukemia with Mutated CEBPA NCIT:C82433 Acute Myeloid Leukemia with CEBPA Mutation confirmed acute myeloid Leukemia with mutated CEBPA NCIT:C82433 NCIT +MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations oio:hasExactSynonym acute myeloid Leukemia with mutated CEBPA acute myeloid Leukemia with mutated CEBPA Acute myeloid leukemia with mutated CEBPA NCIT:C82433 Acute Myeloid Leukemia with CEBPA Mutation confirmed acute myeloid Leukemia with mutated CEBPA NCIT:C82433 NCIT MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations oio:hasExactSynonym acute myeloid Leukemia with non-germline mutated CEBPA acute myeloid Leukemia with non-germline mutated CEBPA Acute Myeloid Leukemia with Non-Germline Mutated CEBPA NCIT:C82433 Acute Myeloid Leukemia with CEBPA Mutation confirmed acute myeloid Leukemia with non-germline mutated CEBPA NCIT:C82433 NCIT MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations oio:hasExactSynonym non-familial acute myeloid leukemia with mutated CEBPA non-familial acute myeloid leukemia with mutated CEBPA Non-Familial Acute Myeloid Leukemia with Mutated CEBPA NCIT:C82433 Acute Myeloid Leukemia with CEBPA Mutation confirmed non-familial acute myeloid leukemia with mutated CEBPA NCIT:C82433 NCIT MONDO:0017895 familial papillary or follicular thyroid carcinoma oio:hasExactSynonym familial nonmedullary thyroid gland carcinoma familial nonmedullary thyroid gland carcinoma Familial Nonmedullary Thyroid Gland Carcinoma NCIT:C118829 Hereditary Nonmedullary Thyroid Gland Carcinoma confirmed familial nonmedullary thyroid gland carcinoma NCIT:C118829 NCIT @@ -98141,8 +98141,8 @@ MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymic epithelial MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymic epithelium neoplasm thymic epithelium neoplasm Thymic Epithelium Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm confirmed thymic epithelium neoplasm NCIT:C6450 NCIT MONDO:0018079 thymic epithelial neoplasm oio:hasExactSynonym thymus epithelial neoplasm thymus epithelial neoplasm Thymus Epithelial Neoplasm NCIT:C6450 Thymic Epithelial Neoplasm confirmed thymus epithelial neoplasm NCIT:C6450 NCIT MONDO:0018088 familial Mediterranean fever oio:hasExactSynonym FMF NCIT:C84707 Familial Mediterranean Fever http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed FMF NCIT:C84707 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle DOUBLE OUTLET RIGHT VENTRICLE NCIT:C98916 Double Outlet Right Ventricle confirmed double outlet right ventricle NCIT:C98916 NCIT MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle Double Outlet Right Ventricle NCIT:C98916 Double Outlet Right Ventricle confirmed double outlet right ventricle NCIT:C98916 NCIT +MONDO:0018089 double outlet right ventricle oio:hasExactSynonym double outlet right ventricle double outlet right ventricle DOUBLE OUTLET RIGHT VENTRICLE NCIT:C98916 Double Outlet Right Ventricle confirmed double outlet right ventricle NCIT:C98916 NCIT MONDO:0018092 Vogt-Koyanagi-Harada disease oio:hasExactSynonym uveomeningoencephalitic syndrome uveomeningoencephalitic syndrome Uveomeningoencephalitic Syndrome NCIT:C85218 Uveomeningoencephalitic Syndrome confirmed uveomeningoencephalitic syndrome NCIT:C85218 NCIT MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg's syndrome Waardenburg's syndrome Waardenburg's Syndrome NCIT:C85222 Waardenburg Syndrome confirmed Waardenburg's syndrome NCIT:C85222 NCIT MONDO:0018094 Waardenburg syndrome oio:hasExactSynonym Waardenburg syndrome Waardenburg syndrome Waardenburg Syndrome NCIT:C85222 Waardenburg Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Waardenburg syndrome NCIT:C85222 NCIT @@ -98181,8 +98181,8 @@ MONDO:0018177 glioblastoma oio:hasExactSynonym spongioblastoma multiforme spong MONDO:0018177 glioblastoma oio:hasExactSynonym spongioblastoma multiforme spongioblastoma multiforme Spongioblastoma Multiforme NCIT:C3058 Glioblastoma confirmed spongioblastoma multiforme NCIT:C3058 NCIT MONDO:0018177 glioblastoma oio:hasExactSynonym GBM NCIT:C3058 Glioblastoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed GBM NCIT:C3058 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018181 staphylococcal scalded skin syndrome oio:hasExactSynonym staphylococcal scalded skin syndrome staphylococcal scalded skin syndrome Staphylococcal Scalded Skin Syndrome NCIT:C85077 Staphylococcal Scalded Skin Syndrome confirmed staphylococcal scalded skin syndrome NCIT:C85077 NCIT -MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis Plastica NCIT:C3190 Linitis Plastica confirmed linitis plastica NCIT:C3190 NCIT MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis plastica NCIT:C3190 Linitis Plastica confirmed linitis plastica NCIT:C3190 NCIT +MONDO:0018184 gastric linitis plastica oio:hasExactSynonym linitis plastica linitis plastica Linitis Plastica NCIT:C3190 Linitis Plastica confirmed linitis plastica NCIT:C3190 NCIT MONDO:0018193 testicular teratoma oio:hasExactSynonym teratoma of testis teratoma of testis Teratoma of Testis NCIT:C3877 Testicular Teratoma confirmed teratoma of testis NCIT:C3877 NCIT MONDO:0018193 testicular teratoma oio:hasExactSynonym teratoma of the testis teratoma of the testis Teratoma of the Testis NCIT:C3877 Testicular Teratoma confirmed teratoma of the testis NCIT:C3877 NCIT MONDO:0018193 testicular teratoma oio:hasExactSynonym testicular teratoma testicular teratoma Testicular Teratoma NCIT:C3877 Testicular Teratoma confirmed testicular teratoma NCIT:C3877 NCIT @@ -98201,8 +98201,8 @@ MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative di MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood oio:hasExactSynonym systemic EBV-positive T-cell lymphoproliferative disorder of childhood systemic EBV-positive T-cell lymphoproliferative disorder of childhood Systemic EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood NCIT:C80374 Systemic EBV-Positive T-Cell Lymphoma of Childhood confirmed systemic EBV-positive T-cell lymphoproliferative disorder of childhood NCIT:C80374 NCIT MONDO:0018224 hydroa vacciniforme-like lymphoma oio:hasExactSynonym hV-like lymphoma hV-like lymphoma HV-Like Lymphoma NCIT:C45327 Hydroa Vacciniforme Lymphoproliferative Disorder confirmed hV-like lymphoma NCIT:C45327 NCIT MONDO:0018224 hydroa vacciniforme-like lymphoma oio:hasExactSynonym hydroa vacciniforme-like cutaneous T-cell lymphoma hydroa vacciniforme-like cutaneous T-cell lymphoma Hydroa Vacciniforme-Like Cutaneous T-Cell Lymphoma NCIT:C45327 Hydroa Vacciniforme Lymphoproliferative Disorder confirmed hydroa vacciniforme-like cutaneous T-cell lymphoma NCIT:C45327 NCIT -MONDO:0018224 hydroa vacciniforme-like lymphoma oio:hasExactSynonym hydroa vacciniforme-like lymphoma hydroa vacciniforme-like lymphoma Hydroa Vacciniforme-Like Lymphoma NCIT:C45327 Hydroa Vacciniforme Lymphoproliferative Disorder confirmed hydroa vacciniforme-like lymphoma NCIT:C45327 NCIT MONDO:0018224 hydroa vacciniforme-like lymphoma oio:hasExactSynonym hydroa vacciniforme-like lymphoma hydroa vacciniforme-like lymphoma Hydroa vacciniforme-like lymphoma NCIT:C45327 Hydroa Vacciniforme Lymphoproliferative Disorder confirmed hydroa vacciniforme-like lymphoma NCIT:C45327 NCIT +MONDO:0018224 hydroa vacciniforme-like lymphoma oio:hasExactSynonym hydroa vacciniforme-like lymphoma hydroa vacciniforme-like lymphoma Hydroa Vacciniforme-Like Lymphoma NCIT:C45327 Hydroa Vacciniforme Lymphoproliferative Disorder confirmed hydroa vacciniforme-like lymphoma NCIT:C45327 NCIT MONDO:0018224 hydroa vacciniforme-like lymphoma oio:hasExactSynonym hydroa vacciniforme-like lymphoproliferative disorder hydroa vacciniforme-like lymphoproliferative disorder Hydroa Vacciniforme-Like Lymphoproliferative Disorder NCIT:C45327 Hydroa Vacciniforme Lymphoproliferative Disorder confirmed hydroa vacciniforme-like lymphoproliferative disorder NCIT:C45327 NCIT MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym ALK-positive large B-cell lymphoma ALK-positive large B-cell lymphoma ALK-Positive Large B-Cell Lymphoma NCIT:C7225 ALK-Positive Large B-Cell Lymphoma confirmed ALK-positive large B-cell lymphoma NCIT:C7225 NCIT MONDO:0018225 ALK-positive large B-cell lymphoma oio:hasExactSynonym diffuse large B-cell lymphoma with expression of full-length ALK diffuse large B-cell lymphoma with expression of full-length ALK Diffuse Large B-Cell Lymphoma with Expression of Full-Length ALK NCIT:C7225 ALK-Positive Large B-Cell Lymphoma confirmed diffuse large B-cell lymphoma with expression of full-length ALK NCIT:C7225 NCIT @@ -98261,8 +98261,8 @@ MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant MONDO:0018364 malignant epithelial tumor of ovary oio:hasExactSynonym malignant ovarian surface epithelial-stromal tumor malignant ovarian surface epithelial-stromal tumor Malignant Ovarian Surface Epithelial-Stromal Tumor NCIT:C40026 Malignant Ovarian Epithelial Tumor confirmed malignant ovarian surface epithelial-stromal tumor NCIT:C40026 NCIT MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary peritoneal serous papillary adenocarcinoma primary peritoneal serous papillary adenocarcinoma Primary Peritoneal Serous Papillary Adenocarcinoma NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma confirmed primary peritoneal serous papillary adenocarcinoma NCIT:C7695 NCIT MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary peritoneal serous papillary carcinoma primary peritoneal serous papillary carcinoma Primary Peritoneal Serous Papillary Carcinoma NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma confirmed primary peritoneal serous papillary carcinoma NCIT:C7695 NCIT -MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary serous papillary carcinoma of peritoneum primary serous papillary carcinoma of peritoneum Primary Serous Papillary Carcinoma of Peritoneum NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma confirmed primary serous papillary carcinoma of peritoneum NCIT:C7695 NCIT MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary serous papillary carcinoma of peritoneum primary serous papillary carcinoma of peritoneum Primary serous papillary carcinoma of peritoneum NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma confirmed primary serous papillary carcinoma of peritoneum NCIT:C7695 NCIT +MONDO:0018368 primary peritoneal serous/papillary carcinoma oio:hasExactSynonym primary serous papillary carcinoma of peritoneum primary serous papillary carcinoma of peritoneum Primary Serous Papillary Carcinoma of Peritoneum NCIT:C7695 Primary Peritoneal Serous Papillary Adenocarcinoma confirmed primary serous papillary carcinoma of peritoneum NCIT:C7695 NCIT MONDO:0018369 immature ovarian teratoma oio:hasExactSynonym immature germ cell teratoma of ovary immature germ cell teratoma of ovary Immature Germ Cell Teratoma of Ovary NCIT:C8111 Immature Ovarian Teratoma confirmed immature germ cell teratoma of ovary NCIT:C8111 NCIT MONDO:0018369 immature ovarian teratoma oio:hasExactSynonym immature germ cell teratoma of the ovary immature germ cell teratoma of the ovary Immature Germ Cell Teratoma of the Ovary NCIT:C8111 Immature Ovarian Teratoma confirmed immature germ cell teratoma of the ovary NCIT:C8111 NCIT MONDO:0018369 immature ovarian teratoma oio:hasExactSynonym immature ovarian teratoma immature ovarian teratoma Immature Ovarian Teratoma NCIT:C8111 Immature Ovarian Teratoma confirmed immature ovarian teratoma NCIT:C8111 NCIT @@ -98275,8 +98275,8 @@ MONDO:0018373 avascular necrosis oio:hasExactSynonym avascular necrosis of bone MONDO:0018378 osteonecrosis of the jaw oio:hasExactSynonym jaw osteonecrosis jaw osteonecrosis Jaw Osteonecrosis NCIT:C63924 Osteonecrosis of Jaw confirmed jaw osteonecrosis NCIT:C63924 NCIT MONDO:0018378 osteonecrosis of the jaw oio:hasExactSynonym osteonecrosis of jaw osteonecrosis of jaw Osteonecrosis of Jaw NCIT:C63924 Osteonecrosis of Jaw confirmed osteonecrosis of jaw NCIT:C63924 NCIT MONDO:0018378 osteonecrosis of the jaw oio:hasExactSynonym ONJ NCIT:C63924 Osteonecrosis of Jaw http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ONJ NCIT:C63924 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018447 chondromyxoid fibroma oio:hasExactSynonym Chondromyxoid fibroma NCIT:C3830 Chondromyxoid Fibroma confirmed Chondromyxoid fibroma NCIT:C3830 NCIT MONDO:0018447 chondromyxoid fibroma oio:hasExactSynonym Chondromyxoid fibroma Chondromyxoid fibroma Chondromyxoid Fibroma NCIT:C3830 Chondromyxoid Fibroma confirmed Chondromyxoid fibroma NCIT:C3830 NCIT +MONDO:0018447 chondromyxoid fibroma oio:hasExactSynonym Chondromyxoid fibroma NCIT:C3830 Chondromyxoid Fibroma confirmed Chondromyxoid fibroma NCIT:C3830 NCIT MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym FAMM syndrome FAMM syndrome FAMM Syndrome NCIT:C27264 Hereditary Atypical Mole Melanoma Syndrome confirmed FAMM syndrome NCIT:C27264 NCIT MONDO:0018453 familial atypical multiple mole melanoma syndrome oio:hasExactSynonym familial atypical mole melanoma syndrome familial atypical mole melanoma syndrome Familial Atypical Mole Melanoma Syndrome NCIT:C27264 Hereditary Atypical Mole Melanoma Syndrome confirmed familial atypical mole melanoma syndrome NCIT:C27264 NCIT MONDO:0018458 familial hypocalciuric hypercalcemia oio:hasExactSynonym familial benign hypercalcemia familial benign hypercalcemia Familial Benign Hypercalcemia NCIT:C123262 Familial Hypocalciuric Hypercalcemia confirmed familial benign hypercalcemia NCIT:C123262 NCIT @@ -98374,10 +98374,10 @@ MONDO:0018680 cutaneous pseudolymphoma oio:hasExactSynonym pseudolymphoma of Sp MONDO:0018683 acquired ichthyosis oio:hasExactSynonym acquired ichthyosis acquired ichthyosis Acquired Ichthyosis NCIT:C112831 Ichthyosis Acquisita confirmed acquired ichthyosis NCIT:C112831 NCIT MONDO:0018683 acquired ichthyosis oio:hasExactSynonym ichthyosis acquisita ichthyosis acquisita Ichthyosis Acquisita NCIT:C112831 Ichthyosis Acquisita confirmed ichthyosis acquisita NCIT:C112831 NCIT MONDO:0018689 plasma cell leukemia oio:hasExactSynonym leukemia plasmacytic leukemia plasmacytic Leukemia Plasmacytic NCIT:C3180 Plasma Cell Leukemia confirmed leukemia plasmacytic NCIT:C3180 NCIT -MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma Cell Leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasma cell leukemia NCIT:C3180 NCIT MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma cell leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasma cell leukemia NCIT:C3180 NCIT -MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia plasmacytic leukemia Plasmacytic leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasmacytic leukemia NCIT:C3180 NCIT +MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasma cell leukemia plasma cell leukemia Plasma Cell Leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasma cell leukemia NCIT:C3180 NCIT MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia plasmacytic leukemia Plasmacytic Leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasmacytic leukemia NCIT:C3180 NCIT +MONDO:0018689 plasma cell leukemia oio:hasExactSynonym plasmacytic leukemia plasmacytic leukemia Plasmacytic leukemia NCIT:C3180 Plasma Cell Leukemia confirmed plasmacytic leukemia NCIT:C3180 NCIT MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie Syndrome NCIT:C34357 Holmes-Adie Syndrome confirmed Adie Syndrome NCIT:C34357 NCIT MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie pupil Adie pupil Adie Pupil NCIT:C34357 Holmes-Adie Syndrome confirmed Adie pupil NCIT:C34357 NCIT MONDO:0018690 Holmes-Adie syndrome oio:hasExactSynonym Adie syndrome Adie syndrome Adie Syndrome NCIT:C34357 Holmes-Adie Syndrome confirmed Adie syndrome NCIT:C34357 NCIT @@ -98388,8 +98388,8 @@ MONDO:0018694 isolated tracheo-esophageal fistula oio:hasExactSynonym tracheoes MONDO:0018712 composite hemangioendothelioma oio:hasExactSynonym composite hemangioendothelioma composite hemangioendothelioma Composite Hemangioendothelioma NCIT:C45475 Composite Hemangioendothelioma confirmed composite hemangioendothelioma NCIT:C45475 NCIT MONDO:0018713 retiform hemangioendothelioma oio:hasExactSynonym hobnail hemangioendothelioma hobnail hemangioendothelioma Hobnail Hemangioendothelioma NCIT:C27511 Retiform Hemangioendothelioma confirmed hobnail hemangioendothelioma NCIT:C27511 NCIT MONDO:0018713 retiform hemangioendothelioma oio:hasExactSynonym retiform hemangioendothelioma retiform hemangioendothelioma Retiform Hemangioendothelioma NCIT:C27511 Retiform Hemangioendothelioma confirmed retiform hemangioendothelioma NCIT:C27511 NCIT -MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed Dabska tumor NCIT:C7526 NCIT MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor Dabska tumor Dabska Tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed Dabska tumor NCIT:C7526 NCIT +MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym Dabska tumor NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed Dabska tumor NCIT:C7526 NCIT MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym malignant endothelial papillary angioendothelioma malignant endothelial papillary angioendothelioma Malignant Endothelial Papillary Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed malignant endothelial papillary angioendothelioma NCIT:C7526 NCIT MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym papillary Endovascular angioendothelioma papillary Endovascular angioendothelioma Papillary Endovascular Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed papillary Endovascular angioendothelioma NCIT:C7526 NCIT MONDO:0018714 primary intralymphatic angioendothelioma oio:hasExactSynonym papillary intralymphatic angioendothelioma papillary intralymphatic angioendothelioma Papillary Intralymphatic Angioendothelioma NCIT:C7526 Papillary Intralymphatic Angioendothelioma confirmed papillary intralymphatic angioendothelioma NCIT:C7526 NCIT @@ -98426,8 +98426,8 @@ MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym Lissencephal MONDO:0018838 lissencephaly spectrum disorders oio:hasExactSynonym lissencephaly lissencephaly Lissencephaly NCIT:C103921 Lissencephaly confirmed lissencephaly NCIT:C103921 NCIT MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym Congenital Hepatic Fibrosis NCIT:C97071 Congenital Hepatic Fibrosis confirmed Congenital Hepatic Fibrosis NCIT:C97071 NCIT MONDO:0018840 isolated congenital hepatic fibrosis oio:hasExactSynonym congenital hepatic fibrosis congenital hepatic fibrosis Congenital Hepatic Fibrosis NCIT:C97071 Congenital Hepatic Fibrosis confirmed congenital hepatic fibrosis NCIT:C97071 NCIT -MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary Effusion Lymphoma NCIT:C6915 Primary Effusion Lymphoma confirmed primary Effusion Lymphoma NCIT:C6915 NCIT MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary effusion lymphoma NCIT:C6915 Primary Effusion Lymphoma confirmed primary Effusion Lymphoma NCIT:C6915 NCIT +MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym primary Effusion Lymphoma primary Effusion Lymphoma Primary Effusion Lymphoma NCIT:C6915 Primary Effusion Lymphoma confirmed primary Effusion Lymphoma NCIT:C6915 NCIT MONDO:0018842 primary effusion lymphoma oio:hasExactSynonym PEL NCIT:C6915 Primary Effusion Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PEL NCIT:C6915 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym central nervous system embryonal carcinoma central nervous system embryonal carcinoma Central Nervous System Embryonal Carcinoma NCIT:C7010 Central Nervous System Embryonal Carcinoma confirmed central nervous system embryonal carcinoma NCIT:C7010 NCIT MONDO:0018843 embryonal carcinoma of the central nervous system oio:hasExactSynonym embryonal carcinoma of CNS embryonal carcinoma of CNS Embryonal Carcinoma of CNS NCIT:C7010 Central Nervous System Embryonal Carcinoma confirmed embryonal carcinoma of CNS NCIT:C7010 NCIT @@ -98456,8 +98456,8 @@ MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym FAB M7 FAB M7 MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym FAB M7 NCIT:C3170 Acute Megakaryoblastic Leukemia confirmed FAB M7 NCIT:C3170 NCIT MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym acute M7 myeloid leukemia acute M7 myeloid leukemia Acute M7 Myeloid Leukemia NCIT:C3170 Acute Megakaryoblastic Leukemia confirmed acute M7 myeloid leukemia NCIT:C3170 NCIT MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym acute megakaryoblastic leukemia acute megakaryoblastic leukemia Acute Megakaryoblastic Leukemia NCIT:C3170 Acute Megakaryoblastic Leukemia confirmed acute megakaryoblastic leukemia NCIT:C3170 NCIT -MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym acute megakaryoblastic leukemia (FAB type M7) acute megakaryoblastic leukemia (FAB type M7) Acute Megakaryoblastic Leukemia (FAB Type M7) NCIT:C3170 Acute Megakaryoblastic Leukemia confirmed acute megakaryoblastic leukemia (FAB type M7) NCIT:C3170 NCIT MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym acute megakaryoblastic leukemia (FAB type M7) acute megakaryoblastic leukemia (FAB type M7) Acute Megakaryoblastic Leukemia (Fab Type M7) NCIT:C3170 Acute Megakaryoblastic Leukemia confirmed acute megakaryoblastic leukemia (FAB type M7) NCIT:C3170 NCIT +MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym acute megakaryoblastic leukemia (FAB type M7) acute megakaryoblastic leukemia (FAB type M7) Acute Megakaryoblastic Leukemia (FAB Type M7) NCIT:C3170 Acute Megakaryoblastic Leukemia confirmed acute megakaryoblastic leukemia (FAB type M7) NCIT:C3170 NCIT MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym acute megakaryocytic leukemia acute megakaryocytic leukemia Acute Megakaryocytic Leukemia NCIT:C3170 Acute Megakaryoblastic Leukemia confirmed acute megakaryocytic leukemia NCIT:C3170 NCIT MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym leukemia, megakaryocytic, malignant leukemia, megakaryocytic, malignant LEUKEMIA, MEGAKARYOCYTIC, MALIGNANT NCIT:C3170 Acute Megakaryoblastic Leukemia confirmed leukemia, megakaryocytic, malignant NCIT:C3170 NCIT MONDO:0018872 acute megakaryoblastic leukemia oio:hasExactSynonym AMKL NCIT:C3170 Acute Megakaryoblastic Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AMKL NCIT:C3170 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -98465,12 +98465,12 @@ MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym AML - acute myeloid le MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute Nonlymphocytic leukemia acute Nonlymphocytic leukemia Acute Nonlymphocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute Nonlymphocytic leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute granulocytic leukemia acute granulocytic leukemia Acute granulocytic leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute granulocytic leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute granulocytic leukemia acute granulocytic leukemia Acute Granulocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute granulocytic leukemia NCIT:C3171 NCIT -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloblastic leukemia acute myeloblastic leukemia Acute Myeloblastic Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myeloblastic leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloblastic leukemia acute myeloblastic leukemia Acute myeloblastic leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myeloblastic leukemia NCIT:C3171 NCIT -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute Myelocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelocytic leukemia NCIT:C3171 NCIT +MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloblastic leukemia acute myeloblastic leukemia Acute Myeloblastic Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myeloblastic leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute myelocytic leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelocytic leukemia NCIT:C3171 NCIT -MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute Myelogenous Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelogenous leukemia NCIT:C3171 NCIT +MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelocytic leukemia acute myelocytic leukemia Acute Myelocytic Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelocytic leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute myelogenous leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelogenous leukemia NCIT:C3171 NCIT +MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemia acute myelogenous leukemia Acute Myelogenous Leukemia NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelogenous leukemia NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myelogenous leukemias acute myelogenous leukemias Acute Myelogenous Leukemias NCIT:C3171 Acute Myeloid Leukemia confirmed acute myelogenous leukemias NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute myeloid leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia confirmed acute myeloid leukemia (AML) NCIT:C3171 NCIT MONDO:0018874 acute myeloid leukemia oio:hasExactSynonym acute myeloid leukemia (AML) acute myeloid leukemia (AML) Acute Myeloid Leukemia (AML) NCIT:C3171 Acute Myeloid Leukemia confirmed acute myeloid leukemia (AML) NCIT:C3171 NCIT @@ -98483,8 +98483,8 @@ MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni familial can MONDO:0018875 Li-Fraumeni syndrome oio:hasExactSynonym Li-Fraumeni syndrome Li-Fraumeni syndrome Li-Fraumeni Syndrome NCIT:C3476 Li-Fraumeni Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Li-Fraumeni syndrome NCIT:C3476 NCIT MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym classical mantle cell lymphoma classical mantle cell lymphoma Classical Mantle Cell Lymphoma NCIT:C4337 Mantle Cell Lymphoma confirmed classical mantle cell lymphoma NCIT:C4337 NCIT MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle cell lymphoma mantle cell lymphoma Mantle Cell Lymphoma NCIT:C4337 Mantle Cell Lymphoma confirmed mantle cell lymphoma NCIT:C4337 NCIT -MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle zone lymphoma mantle zone lymphoma Mantle zone lymphoma NCIT:C4337 Mantle Cell Lymphoma confirmed mantle zone lymphoma NCIT:C4337 NCIT MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle zone lymphoma mantle zone lymphoma Mantle Zone Lymphoma NCIT:C4337 Mantle Cell Lymphoma confirmed mantle zone lymphoma NCIT:C4337 NCIT +MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym mantle zone lymphoma mantle zone lymphoma Mantle zone lymphoma NCIT:C4337 Mantle Cell Lymphoma confirmed mantle zone lymphoma NCIT:C4337 NCIT MONDO:0018876 mantle cell lymphoma oio:hasExactSynonym MCL NCIT:C4337 Mantle Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCL NCIT:C4337 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym Myelodysplastic Syndromes NCIT:C3247 Myelodysplastic Syndrome confirmed Myelodysplastic Syndromes NCIT:C3247 NCIT MONDO:0018881 myelodysplastic syndrome oio:hasExactSynonym dysmyelopoietic syndrome dysmyelopoietic syndrome Dysmyelopoietic Syndrome NCIT:C3247 Myelodysplastic Syndrome confirmed dysmyelopoietic syndrome NCIT:C3247 NCIT @@ -98516,8 +98516,8 @@ MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym adenoma of the liver c MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym adenoma, hepatocellular, benign adenoma, hepatocellular, benign ADENOMA, HEPATOCELLULAR, BENIGN NCIT:C3758 Hepatocellular Adenoma confirmed adenoma, hepatocellular, benign NCIT:C3758 NCIT MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym hepatocellular adenoma hepatocellular adenoma Hepatocellular adenoma NCIT:C3758 Hepatocellular Adenoma confirmed hepatocellular adenoma NCIT:C3758 NCIT MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym hepatocellular adenoma hepatocellular adenoma Hepatocellular Adenoma NCIT:C3758 Hepatocellular Adenoma confirmed hepatocellular adenoma NCIT:C3758 NCIT -MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym liver cell adenoma liver cell adenoma Liver Cell Adenoma NCIT:C3758 Hepatocellular Adenoma confirmed liver cell adenoma NCIT:C3758 NCIT MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym liver cell adenoma liver cell adenoma Liver cell adenoma NCIT:C3758 Hepatocellular Adenoma confirmed liver cell adenoma NCIT:C3758 NCIT +MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym liver cell adenoma liver cell adenoma Liver Cell Adenoma NCIT:C3758 Hepatocellular Adenoma confirmed liver cell adenoma NCIT:C3758 NCIT MONDO:0018902 hepatocellular adenoma oio:hasExactSynonym HCA NCIT:C3758 Hepatocellular Adenoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HCA NCIT:C3758 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018905 diffuse large B-cell lymphoma oio:hasExactSynonym diffuse large B-cell lymphoma diffuse large B-cell lymphoma Diffuse Large B-Cell Lymphoma NCIT:C8851 Diffuse Large B-Cell Lymphoma confirmed diffuse large B-cell lymphoma NCIT:C8851 NCIT MONDO:0018905 diffuse large B-cell lymphoma oio:hasExactSynonym DLBCL NCIT:C8851 Diffuse Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DLBCL NCIT:C8851 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -98551,13 +98551,13 @@ MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym McCune Albright synd MONDO:0018919 McCune-Albright syndrome oio:hasExactSynonym MAS NCIT:C48627 McCune-Albright Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MAS NCIT:C48627 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0018920 peripartum cardiomyopathy oio:hasExactSynonym peripartum cardiomyopathy peripartum cardiomyopathy Peripartum Cardiomyopathy NCIT:C171602 Peripartum Cardiomyopathy confirmed peripartum cardiomyopathy NCIT:C171602 NCIT MONDO:0018921 Meckel syndrome oio:hasExactSynonym Meckel-Gruber syndrome Meckel-Gruber syndrome Meckel-Gruber Syndrome NCIT:C98978 Meckel-Gruber Syndrome confirmed Meckel-Gruber syndrome NCIT:C98978 NCIT -MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy Cell Leukemia NCIT:C7402 Hairy Cell Leukemia confirmed hairy cell leukemia NCIT:C7402 NCIT MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy cell leukemia NCIT:C7402 Hairy Cell Leukemia confirmed hairy cell leukemia NCIT:C7402 NCIT -MONDO:0018935 hairy cell leukemia oio:hasExactSynonym leukemic reticuloendotheliosis leukemic reticuloendotheliosis Leukemic reticuloendotheliosis NCIT:C7402 Hairy Cell Leukemia confirmed leukemic reticuloendotheliosis NCIT:C7402 NCIT +MONDO:0018935 hairy cell leukemia oio:hasExactSynonym hairy cell leukemia hairy cell leukemia Hairy Cell Leukemia NCIT:C7402 Hairy Cell Leukemia confirmed hairy cell leukemia NCIT:C7402 NCIT MONDO:0018935 hairy cell leukemia oio:hasExactSynonym leukemic reticuloendotheliosis leukemic reticuloendotheliosis Leukemic Reticuloendotheliosis NCIT:C7402 Hairy Cell Leukemia confirmed leukemic reticuloendotheliosis NCIT:C7402 NCIT +MONDO:0018935 hairy cell leukemia oio:hasExactSynonym leukemic reticuloendotheliosis leukemic reticuloendotheliosis Leukemic reticuloendotheliosis NCIT:C7402 Hairy Cell Leukemia confirmed leukemic reticuloendotheliosis NCIT:C7402 NCIT MONDO:0018935 hairy cell leukemia oio:hasExactSynonym HCL NCIT:C7402 Hairy Cell Leukemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HCL NCIT:C7402 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0018936 osteoblastoma oio:hasExactSynonym giant osteoid osteoma giant osteoid osteoma Giant osteoid osteoma NCIT:C3294 Osteoblastoma confirmed giant osteoid osteoma NCIT:C3294 NCIT MONDO:0018936 osteoblastoma oio:hasExactSynonym giant osteoid osteoma giant osteoid osteoma Giant Osteoid Osteoma NCIT:C3294 Osteoblastoma confirmed giant osteoid osteoma NCIT:C3294 NCIT +MONDO:0018936 osteoblastoma oio:hasExactSynonym giant osteoid osteoma giant osteoid osteoma Giant osteoid osteoma NCIT:C3294 Osteoblastoma confirmed giant osteoid osteoma NCIT:C3294 NCIT MONDO:0018936 osteoblastoma oio:hasExactSynonym ossifying giant cell tumor ossifying giant cell tumor Ossifying Giant Cell Tumor NCIT:C3294 Osteoblastoma confirmed ossifying giant cell tumor NCIT:C3294 NCIT MONDO:0018936 osteoblastoma oio:hasExactSynonym osteoblastoma osteoblastoma Osteoblastoma NCIT:C3294 Osteoblastoma confirmed osteoblastoma NCIT:C3294 NCIT MONDO:0018936 osteoblastoma oio:hasExactSynonym osteoblastoma, benign osteoblastoma, benign OSTEOBLASTOMA, BENIGN NCIT:C3294 Osteoblastoma confirmed osteoblastoma, benign NCIT:C3294 NCIT @@ -98585,8 +98585,8 @@ MONDO:0018963 hereditary methemoglobinemia oio:hasExactSynonym congenital methe MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport's syndrome Alport's syndrome Alport's Syndrome NCIT:C34842 Alport Syndrome confirmed Alport's syndrome NCIT:C34842 NCIT MONDO:0018965 Alport syndrome oio:hasExactSynonym Alport syndrome Alport syndrome Alport Syndrome NCIT:C34842 Alport Syndrome http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Alport syndrome NCIT:C34842 NCIT MONDO:0018969 craniorachischisis oio:hasExactSynonym cranial rachischisis cranial rachischisis Cranial Rachischisis NCIT:C98907 Craniorachischisis confirmed cranial rachischisis NCIT:C98907 NCIT -MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis CRANIORACHISCHISIS NCIT:C98907 Craniorachischisis confirmed craniorachischisis NCIT:C98907 NCIT MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis Craniorachischisis NCIT:C98907 Craniorachischisis confirmed craniorachischisis NCIT:C98907 NCIT +MONDO:0018969 craniorachischisis oio:hasExactSynonym craniorachischisis craniorachischisis CRANIORACHISCHISIS NCIT:C98907 Craniorachischisis confirmed craniorachischisis NCIT:C98907 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym Neurofibromatosis 1 NCIT:C3273 Neurofibromatosis Type 1 confirmed Neurofibromatosis 1 NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym neurofibromatosis 1 neurofibromatosis 1 Neurofibromatosis 1 NCIT:C3273 Neurofibromatosis Type 1 confirmed neurofibromatosis 1 NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym peripheral neurofibromatosis peripheral neurofibromatosis Peripheral Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 confirmed peripheral neurofibromatosis NCIT:C3273 NCIT @@ -98624,8 +98624,8 @@ MONDO:0019012 Carpenter syndrome oio:hasExactSynonym acrocephalopolysyndactyly MONDO:0019012 Carpenter syndrome oio:hasExactSynonym type II Acrocephalopolysyndactyly type II Acrocephalopolysyndactyly Type II Acrocephalopolysyndactyly NCIT:C98873 Type II Acrocephalopolysyndactyly confirmed type II Acrocephalopolysyndactyly NCIT:C98873 NCIT MONDO:0019015 omphalocele oio:hasExactSynonym congenital omphalocele congenital omphalocele Congenital Omphalocele NCIT:C98997 Omphalocele confirmed congenital omphalocele NCIT:C98997 NCIT MONDO:0019015 omphalocele oio:hasExactSynonym exomphalos exomphalos Exomphalos NCIT:C98997 Omphalocele confirmed exomphalos NCIT:C98997 NCIT -MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele Omphalocele NCIT:C98997 Omphalocele confirmed omphalocele NCIT:C98997 NCIT MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele OMPHALOCELE NCIT:C98997 Omphalocele confirmed omphalocele NCIT:C98997 NCIT +MONDO:0019015 omphalocele oio:hasExactSynonym omphalocele omphalocele Omphalocele NCIT:C98997 Omphalocele confirmed omphalocele NCIT:C98997 NCIT MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo Cardiomyopathy NCIT:C85181 Takotsubo Cardiomyopathy confirmed Takotsubo Cardiomyopathy NCIT:C85181 NCIT MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo cardiomyopathy Takotsubo cardiomyopathy Takotsubo Cardiomyopathy NCIT:C85181 Takotsubo Cardiomyopathy confirmed Takotsubo cardiomyopathy NCIT:C85181 NCIT MONDO:0019018 Tako-tsubo cardiomyopathy oio:hasExactSynonym Takotsubo syndrome Takotsubo syndrome Takotsubo Syndrome NCIT:C85181 Takotsubo Cardiomyopathy confirmed Takotsubo syndrome NCIT:C85181 NCIT @@ -98636,8 +98636,8 @@ MONDO:0019023 cutaneous mastocytosis oio:hasExactSynonym CM NCIT:C7137 Cutane MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast Cell Sarcoma NCIT:C9348 Mast Cell Sarcoma confirmed mast cell sarcoma NCIT:C9348 NCIT MONDO:0019024 mast cell sarcoma oio:hasExactSynonym mast cell sarcoma mast cell sarcoma Mast cell sarcoma NCIT:C9348 Mast Cell Sarcoma confirmed mast cell sarcoma NCIT:C9348 NCIT MONDO:0019024 mast cell sarcoma oio:hasExactSynonym MCS NCIT:C9348 Mast Cell Sarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCS NCIT:C9348 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous Mastocytoma NCIT:C7136 Extracutaneous Mastocytoma confirmed extracutaneous mastocytoma NCIT:C7136 NCIT MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous mastocytoma NCIT:C7136 Extracutaneous Mastocytoma confirmed extracutaneous mastocytoma NCIT:C7136 NCIT +MONDO:0019025 extracutaneous mastocytoma oio:hasExactSynonym extracutaneous mastocytoma extracutaneous mastocytoma Extracutaneous Mastocytoma NCIT:C7136 Extracutaneous Mastocytoma confirmed extracutaneous mastocytoma NCIT:C7136 NCIT MONDO:0019026 autosomal recessive osteopetrosis oio:hasExactSynonym autosomal recessive osteopetrosis autosomal recessive osteopetrosis Autosomal Recessive Osteopetrosis NCIT:C129733 Autosomal Recessive Osteopetrosis confirmed autosomal recessive osteopetrosis NCIT:C129733 NCIT MONDO:0019037 progressive supranuclear palsy oio:hasExactSynonym Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski syndrome Steele-Richardson-Olszewski Syndrome NCIT:C85028 Progressive Supranuclear Palsy confirmed Steele-Richardson-Olszewski syndrome NCIT:C85028 NCIT MONDO:0019040 chromosomal disorder oio:hasExactSynonym chromosome disorder chromosome disorder Chromosome Disorder NCIT:C34470 Chromosome Disorder confirmed chromosome disorder NCIT:C34470 NCIT @@ -98672,8 +98672,8 @@ MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym Cholangiocellular carcinom MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma cholangiocarcinoma Cholangiocarcinoma NCIT:C4436 Cholangiocarcinoma confirmed cholangiocarcinoma NCIT:C4436 NCIT MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym cholangiocarcinoma, malignant cholangiocarcinoma, malignant CHOLANGIOCARCINOMA, MALIGNANT NCIT:C4436 Cholangiocarcinoma confirmed cholangiocarcinoma, malignant NCIT:C4436 NCIT MONDO:0019087 cholangiocarcinoma oio:hasExactSynonym CC NCIT:C4436 Cholangiocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CC NCIT:C4436 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019088 post-transplant lymphoproliferative disease oio:hasExactSynonym post-transplant lymphoproliferative disorder post-transplant lymphoproliferative disorder Post-Transplant Lymphoproliferative Disorder NCIT:C4727 Post-Transplant Lymphoproliferative Disorder confirmed post-transplant lymphoproliferative disorder NCIT:C4727 NCIT MONDO:0019088 post-transplant lymphoproliferative disease oio:hasExactSynonym post-transplant lymphoproliferative disorder post-transplant lymphoproliferative disorder Post-transplant Lymphoproliferative Disorder NCIT:C4727 Post-Transplant Lymphoproliferative Disorder confirmed post-transplant lymphoproliferative disorder NCIT:C4727 NCIT +MONDO:0019088 post-transplant lymphoproliferative disease oio:hasExactSynonym post-transplant lymphoproliferative disorder post-transplant lymphoproliferative disorder Post-Transplant Lymphoproliferative Disorder NCIT:C4727 Post-Transplant Lymphoproliferative Disorder confirmed post-transplant lymphoproliferative disorder NCIT:C4727 NCIT MONDO:0019088 post-transplant lymphoproliferative disease oio:hasExactSynonym PTLD NCIT:C4727 Post-Transplant Lymphoproliferative Disorder http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PTLD NCIT:C4727 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019091 bronchopulmonary dysplasia oio:hasExactSynonym BPD NCIT:C90599 Bronchopulmonary Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BPD NCIT:C90599 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019095 plague oio:hasExactSynonym plague plague Plague NCIT:C85015 Plague confirmed plague NCIT:C85015 NCIT @@ -98707,10 +98707,10 @@ MONDO:0019154 androgen insensitivity syndrome oio:hasExactSynonym testicular fe MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym Pure sideroblastic Anemia Pure sideroblastic Anemia Pure Sideroblastic Anemia NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts confirmed Pure sideroblastic Anemia NCIT:C4036 NCIT MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym myelodysplastic syndrome with Ring sideroblasts myelodysplastic syndrome with Ring sideroblasts Myelodysplastic Syndrome with Ring Sideroblasts NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts confirmed myelodysplastic syndrome with Ring sideroblasts NCIT:C4036 NCIT MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym refractory Anemia with Ring sideroblasts refractory Anemia with Ring sideroblasts Refractory Anemia with Ring Sideroblasts NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts confirmed refractory Anemia with Ring sideroblasts NCIT:C4036 NCIT -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym refractory Anemia with ringed sideroblasts refractory Anemia with ringed sideroblasts Refractory anemia with ringed sideroblasts NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts confirmed refractory Anemia with ringed sideroblasts NCIT:C4036 NCIT MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym refractory Anemia with ringed sideroblasts refractory Anemia with ringed sideroblasts Refractory Anemia with Ringed Sideroblasts NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts confirmed refractory Anemia with ringed sideroblasts NCIT:C4036 NCIT -MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym refractory anemia with ringed sideroblasts refractory anemia with ringed sideroblasts Refractory anemia with ringed sideroblasts NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts confirmed refractory anemia with ringed sideroblasts NCIT:C4036 NCIT +MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym refractory Anemia with ringed sideroblasts refractory Anemia with ringed sideroblasts Refractory anemia with ringed sideroblasts NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts confirmed refractory Anemia with ringed sideroblasts NCIT:C4036 NCIT MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym refractory anemia with ringed sideroblasts refractory anemia with ringed sideroblasts Refractory Anemia with Ringed Sideroblasts NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts confirmed refractory anemia with ringed sideroblasts NCIT:C4036 NCIT +MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym refractory anemia with ringed sideroblasts refractory anemia with ringed sideroblasts Refractory anemia with ringed sideroblasts NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts confirmed refractory anemia with ringed sideroblasts NCIT:C4036 NCIT MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym MDS-RS NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS-RS NCIT:C4036 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019157 myelodysplastic syndrome with ring sideroblasts oio:hasExactSynonym RARS NCIT:C4036 Myelodysplastic Syndrome with Ring Sideroblasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RARS NCIT:C4036 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019159 Loeffler endocarditis oio:hasExactSynonym eosinophilic endomyocardial disease eosinophilic endomyocardial disease Eosinophilic Endomyocardial Disease NCIT:C27044 Eosinophilic Endomyocardial Disease confirmed eosinophilic endomyocardial disease NCIT:C27044 NCIT @@ -98744,11 +98744,11 @@ MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym acute interstiti MONDO:0019203 acute interstitial pneumonia oio:hasExactSynonym AIP NCIT:C35806 Acute Interstitial Pneumonia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed AIP NCIT:C35806 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019207 DEND syndrome oio:hasExactSynonym K ATP associated developmental delay, epilepsy and neonatal diabetes K ATP associated developmental delay, epilepsy and neonatal diabetes K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes NCIT:C131845 K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes confirmed K ATP associated developmental delay, epilepsy and neonatal diabetes NCIT:C131845 NCIT MONDO:0019209 Japanese encephalitis oio:hasExactSynonym Japanese B encephalitis Japanese B encephalitis Japanese B Encephalitis NCIT:C34577 Japanese B Encephalitis confirmed Japanese B encephalitis NCIT:C34577 NCIT -MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym Merkel Cell Carcinoma Merkel Cell Carcinoma Merkel cell carcinoma NCIT:C9231 Merkel Cell Carcinoma confirmed Merkel Cell Carcinoma NCIT:C9231 NCIT MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym Merkel Cell Carcinoma NCIT:C9231 Merkel Cell Carcinoma confirmed Merkel Cell Carcinoma NCIT:C9231 NCIT +MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym Merkel Cell Carcinoma Merkel Cell Carcinoma Merkel cell carcinoma NCIT:C9231 Merkel Cell Carcinoma confirmed Merkel Cell Carcinoma NCIT:C9231 NCIT MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym Merkel cell cancer Merkel cell cancer Merkel Cell Cancer NCIT:C9231 Merkel Cell Carcinoma confirmed Merkel cell cancer NCIT:C9231 NCIT -MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym Merkel cell carcinoma NCIT:C9231 Merkel Cell Carcinoma confirmed Merkel cell carcinoma NCIT:C9231 NCIT MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym Merkel cell carcinoma Merkel cell carcinoma Merkel Cell Carcinoma NCIT:C9231 Merkel Cell Carcinoma confirmed Merkel cell carcinoma NCIT:C9231 NCIT +MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym Merkel cell carcinoma NCIT:C9231 Merkel Cell Carcinoma confirmed Merkel cell carcinoma NCIT:C9231 NCIT MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym Merkel cell tumor NCIT:C9231 Merkel Cell Carcinoma confirmed Merkel cell tumor NCIT:C9231 NCIT MONDO:0019210 cutaneous neuroendocrine carcinoma oio:hasExactSynonym MCC NCIT:C9231 Merkel Cell Carcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MCC NCIT:C9231 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019214 inborn carbohydrate metabolic disorder oio:hasExactSynonym carbohydrate metabolism disorder carbohydrate metabolism disorder Carbohydrate Metabolism Disorder NCIT:C97089 Carbohydrate Metabolism Disorder confirmed carbohydrate metabolism disorder NCIT:C97089 NCIT @@ -98763,8 +98763,8 @@ MONDO:0019287 ectodermal dysplasia syndrome oio:hasExactSynonym ectodermal dysp MONDO:0019293 skin vascular disease oio:hasExactSynonym skin vascular disorder skin vascular disorder Skin Vascular Disorder NCIT:C35254 Skin Vascular Disorder confirmed skin vascular disorder NCIT:C35254 NCIT MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis Diffuse cutaneous mastocytosis NCIT:C3218 Diffuse Cutaneous Mastocytosis confirmed diffuse cutaneous mastocytosis NCIT:C3218 NCIT MONDO:0019315 diffuse cutaneous mastocytosis oio:hasExactSynonym diffuse cutaneous mastocytosis diffuse cutaneous mastocytosis Diffuse Cutaneous Mastocytosis NCIT:C3218 Diffuse Cutaneous Mastocytosis confirmed diffuse cutaneous mastocytosis NCIT:C3218 NCIT -MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis confirmed urticaria pigmentosa NCIT:C3433 NCIT MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa urticaria pigmentosa Urticaria Pigmentosa NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis confirmed urticaria pigmentosa NCIT:C3433 NCIT +MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa urticaria pigmentosa Urticaria pigmentosa NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis confirmed urticaria pigmentosa NCIT:C3433 NCIT MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym urticaria pigmentosa/maculopapular cutaneous mastocytosis urticaria pigmentosa/maculopapular cutaneous mastocytosis Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis confirmed urticaria pigmentosa/maculopapular cutaneous mastocytosis NCIT:C3433 NCIT MONDO:0019316 maculopapular cutaneous mastocytosis oio:hasExactSynonym UP/MPCM NCIT:C3433 Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed UP/MPCM NCIT:C3433 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019319 verrucous nevus oio:hasExactSynonym verrucous Epidermal Nevus verrucous Epidermal Nevus Verrucous Epidermal Nevus NCIT:C4674 Verrucous Nevus confirmed verrucous Epidermal Nevus NCIT:C4674 NCIT @@ -98794,13 +98794,13 @@ MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus e MONDO:0019362 epidemic louse-borne typhus oio:hasExactSynonym epidemic typhus fever epidemic typhus fever Epidemic Typhus Fever NCIT:C84689 Epidemic Louse-Borne Typhus confirmed epidemic typhus fever NCIT:C84689 NCIT MONDO:0019372 solitary bone cyst oio:hasExactSynonym simple bone cyst simple bone cyst Simple Bone Cyst NCIT:C2904 Simple Bone Cyst confirmed simple bone cyst NCIT:C2904 NCIT MONDO:0019372 solitary bone cyst oio:hasExactSynonym unicameral bone cyst unicameral bone cyst Unicameral Bone Cyst NCIT:C2904 Simple Bone Cyst confirmed unicameral bone cyst NCIT:C2904 NCIT -MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor Desmoplastic small round cell tumor Desmoplastic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round cell tumor NCIT:C8300 NCIT +MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round-cell neoplasm Desmoplastic small round-cell neoplasm Desmoplastic Small Round-Cell Neoplasm NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round-cell neoplasm NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Desmoplastic small round-cell tumor Desmoplastic small round-cell tumor Desmoplastic Small Round-Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Desmoplastic small round-cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym Polyphenotypic small round cell tumor Polyphenotypic small round cell tumor Polyphenotypic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed Polyphenotypic small round cell tumor NCIT:C8300 NCIT -MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed desmoplastic small round cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic Small Round Cell Tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed desmoplastic small round cell tumor NCIT:C8300 NCIT +MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym desmoplastic small round cell tumor desmoplastic small round cell tumor Desmoplastic small round cell tumor NCIT:C8300 Desmoplastic Small Round Cell Tumor confirmed desmoplastic small round cell tumor NCIT:C8300 NCIT MONDO:0019373 desmoplastic small round cell tumor oio:hasExactSynonym DSRCT NCIT:C8300 Desmoplastic Small Round Cell Tumor http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DSRCT NCIT:C8300 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019380 western equine encephalitis oio:hasExactSynonym Western equine encephalomyelitis Western equine encephalomyelitis Western Equine Encephalomyelitis NCIT:C85227 Western Equine Encephalomyelitis confirmed Western equine encephalomyelitis NCIT:C85227 NCIT MONDO:0019383 acute disseminated encephalomyelitis oio:hasExactSynonym acute disseminated encephalomyelitis acute disseminated encephalomyelitis Acute Disseminated Encephalomyelitis NCIT:C34578 Acute Disseminated Encephalomyelitis confirmed acute disseminated encephalomyelitis NCIT:C34578 NCIT @@ -98816,8 +98816,8 @@ MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym Syringadenoma MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary Syringadenoma papillary Syringadenoma Papillary Syringadenoma NCIT:C4172 Syringocystadenoma Papilliferum confirmed papillary Syringadenoma NCIT:C4172 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary Syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum confirmed papillary syringocystadenoma NCIT:C4172 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym papillary syringocystadenoma papillary syringocystadenoma Papillary syringocystadenoma NCIT:C4172 Syringocystadenoma Papilliferum confirmed papillary syringocystadenoma NCIT:C4172 NCIT -MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym syringocystadenoma papilliferum syringocystadenoma papilliferum Syringocystadenoma Papilliferum NCIT:C4172 Syringocystadenoma Papilliferum confirmed syringocystadenoma papilliferum NCIT:C4172 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym syringocystadenoma papilliferum syringocystadenoma papilliferum Syringocystadenoma papilliferum NCIT:C4172 Syringocystadenoma Papilliferum confirmed syringocystadenoma papilliferum NCIT:C4172 NCIT +MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym syringocystadenoma papilliferum syringocystadenoma papilliferum Syringocystadenoma Papilliferum NCIT:C4172 Syringocystadenoma Papilliferum confirmed syringocystadenoma papilliferum NCIT:C4172 NCIT MONDO:0019392 syringocystadenoma papilliferum oio:hasExactSynonym SCAP NCIT:C4172 Syringocystadenoma Papilliferum http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SCAP NCIT:C4172 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019404 perineurioma oio:hasExactSynonym perineurioma perineurioma Perineurioma NCIT:C4973 Perineurioma confirmed perineurioma NCIT:C4973 NCIT MONDO:0019409 idiopathic juvenile osteoporosis oio:hasExactSynonym Pediatric osteoporosis Pediatric osteoporosis Pediatric Osteoporosis NCIT:C119996 Pediatric Osteoporosis confirmed Pediatric osteoporosis NCIT:C119996 NCIT @@ -98848,13 +98848,13 @@ MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym u MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym unclassifiable chronic myeloproliferative disorder unclassifiable chronic myeloproliferative disorder Unclassifiable Chronic Myeloproliferative Disorder NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified confirmed unclassifiable chronic myeloproliferative disorder NCIT:C27350 NCIT MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym CMPD-U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMPD-U NCIT:C27350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019452 myeloproliferative neoplasm, unclassifiable oio:hasExactSynonym MPN-U NCIT:C27350 Myeloproliferative Neoplasm, Not Otherwise Specified http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MPN-U NCIT:C27350 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym refractory cytopenia with multilineage dysplasia refractory cytopenia with multilineage dysplasia Refractory cytopenia with multilineage dysplasia NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia confirmed refractory cytopenia with multilineage dysplasia NCIT:C8574 NCIT MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym refractory cytopenia with multilineage dysplasia refractory cytopenia with multilineage dysplasia Refractory Cytopenia with Multilineage Dysplasia NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia confirmed refractory cytopenia with multilineage dysplasia NCIT:C8574 NCIT +MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym refractory cytopenia with multilineage dysplasia refractory cytopenia with multilineage dysplasia Refractory cytopenia with multilineage dysplasia NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia confirmed refractory cytopenia with multilineage dysplasia NCIT:C8574 NCIT MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym MDS-MLD NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS-MLD NCIT:C8574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia oio:hasExactSynonym RCMD NCIT:C8574 Myelodysplastic Syndrome, Not Otherwise Specified with Multilineage Dysplasia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCMD NCIT:C8574 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym myelodysplastic syndrome with Excess blasts myelodysplastic syndrome with Excess blasts Myelodysplastic Syndrome with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed myelodysplastic syndrome with Excess blasts NCIT:C7506 NCIT -MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory anemia with excess blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed refractory Anemia with Excess blasts NCIT:C7506 NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory Anemia with Excess Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed refractory Anemia with Excess blasts NCIT:C7506 NCIT +MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with Excess blasts refractory Anemia with Excess blasts Refractory anemia with excess blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed refractory Anemia with Excess blasts NCIT:C7506 NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym refractory Anemia with an Excess of blasts refractory Anemia with an Excess of blasts Refractory Anemia with an Excess of Blasts NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts confirmed refractory Anemia with an Excess of blasts NCIT:C7506 NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym MDS-EB NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed MDS-EB NCIT:C7506 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019454 myelodysplastic syndrome with excess blasts oio:hasExactSynonym RAEB NCIT:C7506 Myelodysplastic Syndrome with Excess Blasts http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RAEB NCIT:C7506 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -98883,8 +98883,8 @@ MONDO:0019461 B-cell prolymphocytic leukemia oio:hasExactSynonym B-cell prolymp MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym marginal zone lymphoma of spleen marginal zone lymphoma of spleen Marginal Zone Lymphoma of Spleen NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed marginal zone lymphoma of spleen NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym marginal zone lymphoma of the spleen marginal zone lymphoma of the spleen Marginal Zone Lymphoma of the Spleen NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed marginal zone lymphoma of the spleen NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic lymphoma with circulating villous lymphocytes splenic lymphoma with circulating villous lymphocytes Splenic Lymphoma with Circulating Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic lymphoma with circulating villous lymphocytes NCIT:C4663 NCIT -MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic marginal zone B-cell lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone B-cell lymphoma NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic Marginal Zone B-Cell Lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone B-cell lymphoma NCIT:C4663 NCIT +MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma splenic marginal zone B-cell lymphoma Splenic marginal zone B-cell lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone B-cell lymphoma NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone B-cell lymphoma with villous lymphocytes splenic marginal zone B-cell lymphoma with villous lymphocytes Splenic Marginal Zone B-Cell Lymphoma with Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone B-cell lymphoma with villous lymphocytes NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone lymphoma splenic marginal zone lymphoma Splenic Marginal Zone Lymphoma NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone lymphoma NCIT:C4663 NCIT MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym splenic marginal zone lymphoma with villous lymphocytes splenic marginal zone lymphoma with villous lymphocytes Splenic Marginal Zone Lymphoma with Villous Lymphocytes NCIT:C4663 Splenic Marginal Zone Lymphoma confirmed splenic marginal zone lymphoma with villous lymphocytes NCIT:C4663 NCIT @@ -98892,21 +98892,21 @@ MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym SLVL NCIT:C4 MONDO:0019462 splenic marginal zone lymphoma oio:hasExactSynonym SMZL NCIT:C4663 Splenic Marginal Zone Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SMZL NCIT:C4663 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019464 heavy chain disease oio:hasExactSynonym heavy chain disease heavy chain disease Heavy Chain Disease NCIT:C3082 Heavy Chain Disease confirmed heavy chain disease NCIT:C3082 NCIT MONDO:0019464 heavy chain disease oio:hasExactSynonym HCD NCIT:C3082 Heavy Chain Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HCD NCIT:C3082 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed Monocytoid B-cell lymphoma NCIT:C8863 NCIT MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma Monocytoid B-cell lymphoma Monocytoid B-Cell Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed Monocytoid B-cell lymphoma NCIT:C8863 NCIT +MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym Monocytoid B-cell lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed Monocytoid B-cell lymphoma NCIT:C8863 NCIT MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone B-cell lymphoma nodal marginal zone B-cell lymphoma Nodal Marginal Zone B-Cell Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed nodal marginal zone B-cell lymphoma NCIT:C8863 NCIT -MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal Marginal Zone Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed nodal marginal zone lymphoma NCIT:C8863 NCIT MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal marginal zone lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed nodal marginal zone lymphoma NCIT:C8863 NCIT +MONDO:0019465 nodal marginal zone B-cell lymphoma oio:hasExactSynonym nodal marginal zone lymphoma nodal marginal zone lymphoma Nodal Marginal Zone Lymphoma NCIT:C8863 Nodal Marginal Zone Lymphoma confirmed nodal marginal zone lymphoma NCIT:C8863 NCIT MONDO:0019466 lymphomatoid granulomatosis oio:hasExactSynonym LYG NCIT:C7930 Lymphomatoid Granulomatosis http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LYG NCIT:C7930 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym CD4+/CD56+ hematodermic neoplasm CD4+/CD56+ hematodermic neoplasm CD4+/CD56+ Hematodermic Neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed CD4+/CD56+ hematodermic neoplasm NCIT:C7203 NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym agranular CD4+ CD56+ hematodermic neoplasm/tumor agranular CD4+ CD56+ hematodermic neoplasm/tumor Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed agranular CD4+ CD56+ hematodermic neoplasm/tumor NCIT:C7203 NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym agranular CD4+ natural Killer cell leukemia agranular CD4+ natural Killer cell leukemia Agranular CD4+ Natural Killer Cell Leukemia NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed agranular CD4+ natural Killer cell leukemia NCIT:C7203 NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym blastic NK-cell lymphoma blastic NK-cell lymphoma Blastic NK-Cell Lymphoma NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed blastic NK-cell lymphoma NCIT:C7203 NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym blastic natural Killer leukemia/lymphoma blastic natural Killer leukemia/lymphoma Blastic Natural Killer Leukemia/Lymphoma NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed blastic natural Killer leukemia/lymphoma NCIT:C7203 NCIT -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym blastic plasmacytoid Dendritic cell neoplasm blastic plasmacytoid Dendritic cell neoplasm Blastic plasmacytoid dendritic cell neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed blastic plasmacytoid Dendritic cell neoplasm NCIT:C7203 NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym blastic plasmacytoid Dendritic cell neoplasm blastic plasmacytoid Dendritic cell neoplasm Blastic Plasmacytoid Dendritic Cell Neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed blastic plasmacytoid Dendritic cell neoplasm NCIT:C7203 NCIT -MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym blastic plasmacytoid dendritic cell neoplasm blastic plasmacytoid dendritic cell neoplasm Blastic plasmacytoid dendritic cell neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed blastic plasmacytoid dendritic cell neoplasm NCIT:C7203 NCIT +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym blastic plasmacytoid Dendritic cell neoplasm blastic plasmacytoid Dendritic cell neoplasm Blastic plasmacytoid dendritic cell neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed blastic plasmacytoid Dendritic cell neoplasm NCIT:C7203 NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym blastic plasmacytoid dendritic cell neoplasm blastic plasmacytoid dendritic cell neoplasm Blastic Plasmacytoid Dendritic Cell Neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed blastic plasmacytoid dendritic cell neoplasm NCIT:C7203 NCIT +MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym blastic plasmacytoid dendritic cell neoplasm blastic plasmacytoid dendritic cell neoplasm Blastic plasmacytoid dendritic cell neoplasm NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed blastic plasmacytoid dendritic cell neoplasm NCIT:C7203 NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym monomorphic NK-cell lymphoma monomorphic NK-cell lymphoma Monomorphic NK-Cell Lymphoma NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm confirmed monomorphic NK-cell lymphoma NCIT:C7203 NCIT MONDO:0019467 CD4+/CD56+ hematodermic neoplasm oio:hasExactSynonym BPDCN NCIT:C7203 Blastic Plasmacytoid Dendritic Cell Neoplasm http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed BPDCN NCIT:C7203 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019468 T-cell prolymphocytic leukemia oio:hasExactSynonym T cell prolymphocytic leukemia T cell prolymphocytic leukemia T Cell Prolymphocytic Leukemia NCIT:C4752 T-Cell Prolymphocytic Leukemia confirmed T cell prolymphocytic leukemia NCIT:C4752 NCIT @@ -98934,17 +98934,17 @@ MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym adult T-cell l MONDO:0019471 adult T-cell leukemia/lymphoma oio:hasExactSynonym ATLL NCIT:C3184 Adult T-Cell Leukemia/Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed ATLL NCIT:C3184 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym Extranodal NK/T-cell lymphoma, nasal type Extranodal NK/T-cell lymphoma, nasal type Extranodal NK/T-Cell Lymphoma, Nasal Type NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed Extranodal NK/T-cell lymphoma, nasal type NCIT:C4684 NCIT -MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym angiocentric T-cell lymphoma angiocentric T-cell lymphoma Angiocentric T-Cell Lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed angiocentric T-cell lymphoma NCIT:C4684 NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym angiocentric T-cell lymphoma angiocentric T-cell lymphoma Angiocentric T-cell lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed angiocentric T-cell lymphoma NCIT:C4684 NCIT +MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym angiocentric T-cell lymphoma angiocentric T-cell lymphoma Angiocentric T-Cell Lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed angiocentric T-cell lymphoma NCIT:C4684 NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym nasal type Extranodal NK/T-cell lymphoma nasal type Extranodal NK/T-cell lymphoma Nasal Type Extranodal NK/T-Cell Lymphoma NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed nasal type Extranodal NK/T-cell lymphoma NCIT:C4684 NCIT MONDO:0019472 extranodal nasal NK/T cell lymphoma oio:hasExactSynonym reticulosis, malignant reticulosis, malignant RETICULOSIS, MALIGNANT NCIT:C4684 Nasal Type Extranodal NK/T-Cell Lymphoma confirmed reticulosis, malignant NCIT:C4684 NCIT -MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy Associated T-Cell Lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma confirmed enteropathy associated T-cell lymphoma NCIT:C4737 NCIT MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy associated T-cell lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma confirmed enteropathy associated T-cell lymphoma NCIT:C4737 NCIT +MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy associated T-cell lymphoma enteropathy associated T-cell lymphoma Enteropathy Associated T-Cell Lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma confirmed enteropathy associated T-cell lymphoma NCIT:C4737 NCIT MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym enteropathy-type T-cell lymphoma enteropathy-type T-cell lymphoma Enteropathy-Type T-Cell Lymphoma NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma confirmed enteropathy-type T-cell lymphoma NCIT:C4737 NCIT MONDO:0019473 enteropathy-associated T-cell lymphoma oio:hasExactSynonym EATL NCIT:C4737 Enteropathy-Associated T-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed EATL NCIT:C4737 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019474 hepatosplenic T-cell lymphoma oio:hasExactSynonym Hepatosplenic gamma/Delta T-cell lymphoma Hepatosplenic gamma/Delta T-cell lymphoma Hepatosplenic Gamma/Delta T-Cell Lymphoma NCIT:C8459 Hepatosplenic T-Cell Lymphoma confirmed Hepatosplenic gamma/Delta T-cell lymphoma NCIT:C8459 NCIT -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym subcutaneous panniculitis-like T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma NCIT:C6918 Subcutaneous Panniculitis-Like T-Cell Lymphoma confirmed subcutaneous panniculitis-like T-cell lymphoma NCIT:C6918 NCIT MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym subcutaneous panniculitis-like T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma Subcutaneous Panniculitis-Like T-Cell Lymphoma NCIT:C6918 Subcutaneous Panniculitis-Like T-Cell Lymphoma confirmed subcutaneous panniculitis-like T-cell lymphoma NCIT:C6918 NCIT +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym subcutaneous panniculitis-like T-cell lymphoma subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma NCIT:C6918 Subcutaneous Panniculitis-Like T-Cell Lymphoma confirmed subcutaneous panniculitis-like T-cell lymphoma NCIT:C6918 NCIT MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type) subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type) Subcutaneous Panniculitis-Like T-Cell Lymphoma (Alpha/Beta Type) NCIT:C6918 Subcutaneous Panniculitis-Like T-Cell Lymphoma confirmed subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type) NCIT:C6918 NCIT MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type Subcutaneous Panniculitis-Like T-Cell Lymphoma, Alpha/Beta Type NCIT:C6918 Subcutaneous Panniculitis-Like T-Cell Lymphoma confirmed subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type NCIT:C6918 NCIT MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma oio:hasExactSynonym SPTCL NCIT:C6918 Subcutaneous Panniculitis-Like T-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed SPTCL NCIT:C6918 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -98954,8 +98954,8 @@ MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma oio:hasExact MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic Sarcoma NCIT:C27349 Histiocytic Sarcoma confirmed histiocytic sarcoma NCIT:C27349 NCIT MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym histiocytic sarcoma histiocytic sarcoma Histiocytic sarcoma NCIT:C27349 Histiocytic Sarcoma confirmed histiocytic sarcoma NCIT:C27349 NCIT MONDO:0019479 histiocytic sarcoma oio:hasExactSynonym sarcoma, histiocytic, malignant sarcoma, histiocytic, malignant SARCOMA, HISTIOCYTIC, MALIGNANT NCIT:C27349 Histiocytic Sarcoma confirmed sarcoma, histiocytic, malignant NCIT:C27349 NCIT -MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma Langerhans cell sarcoma Langerhans Cell Sarcoma NCIT:C6921 Langerhans Cell Sarcoma confirmed Langerhans cell sarcoma NCIT:C6921 NCIT MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma NCIT:C6921 Langerhans Cell Sarcoma confirmed Langerhans cell sarcoma NCIT:C6921 NCIT +MONDO:0019480 Langerhans cell sarcoma oio:hasExactSynonym Langerhans cell sarcoma Langerhans cell sarcoma Langerhans Cell Sarcoma NCIT:C6921 Langerhans Cell Sarcoma confirmed Langerhans cell sarcoma NCIT:C6921 NCIT MONDO:0019483 methotrexate-associated lymphoproliferative disorders oio:hasExactSynonym methotrexate-associated lymphoproliferative disorder methotrexate-associated lymphoproliferative disorder Methotrexate-Associated Lymphoproliferative Disorder NCIT:C7184 Methotrexate-Associated Lymphoproliferative Disorder confirmed methotrexate-associated lymphoproliferative disorder NCIT:C7184 NCIT MONDO:0019496 neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine neoplasm neuroendocrine neoplasm Neuroendocrine Neoplasm NCIT:C3809 Neuroendocrine Neoplasm confirmed neuroendocrine neoplasm NCIT:C3809 NCIT MONDO:0019496 neuroendocrine neoplasm oio:hasExactSynonym neuroendocrine tumor neuroendocrine tumor Neuroendocrine Tumor NCIT:C3809 Neuroendocrine Neoplasm confirmed neuroendocrine tumor NCIT:C3809 NCIT @@ -99028,8 +99028,8 @@ MONDO:0019622 non-specific interstitial pneumonia oio:hasExactSynonym NSIP NC MONDO:0019623 hereditary angioedema oio:hasExactSynonym hereditary angioedema hereditary angioedema Hereditary Angioedema NCIT:C84758 Hereditary Angioedema confirmed hereditary angioedema NCIT:C84758 NCIT MONDO:0019631 persistent hyperplastic primary vitreous oio:hasExactSynonym PHPV NCIT:C161554 Persistent Hyperplastic Primary Vitreous http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PHPV NCIT:C161554 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019632 Lyme disease oio:hasExactSynonym Borrelia NCIT:C45161 Borrelia Burgdorferi Infection confirmed Borrelia NCIT:C45161 NCIT -MONDO:0019632 Lyme disease oio:hasExactSynonym Borrelia burgdorferi infection Borrelia burgdorferi infection Borrelia Burgdorferi Infection NCIT:C45161 Borrelia Burgdorferi Infection confirmed Borrelia burgdorferi infection NCIT:C45161 NCIT MONDO:0019632 Lyme disease oio:hasExactSynonym Borrelia burgdorferi infection Borrelia burgdorferi infection Borrelia burgdorferi Infection NCIT:C45161 Borrelia Burgdorferi Infection confirmed Borrelia burgdorferi infection NCIT:C45161 NCIT +MONDO:0019632 Lyme disease oio:hasExactSynonym Borrelia burgdorferi infection Borrelia burgdorferi infection Borrelia Burgdorferi Infection NCIT:C45161 Borrelia Burgdorferi Infection confirmed Borrelia burgdorferi infection NCIT:C45161 NCIT MONDO:0019632 Lyme disease oio:hasExactSynonym Lyme disease Lyme disease Lyme Disease NCIT:C45161 Borrelia Burgdorferi Infection confirmed Lyme disease NCIT:C45161 NCIT MONDO:0019636 renal agenesis, unilateral oio:hasExactSynonym congenital single kidney congenital single kidney Congenital Single Kidney NCIT:C101220 Unilateral Renal Agenesis confirmed congenital single kidney NCIT:C101220 NCIT MONDO:0019636 renal agenesis, unilateral oio:hasExactSynonym congenital solitary kidney congenital solitary kidney Congenital Solitary Kidney NCIT:C101220 Unilateral Renal Agenesis confirmed congenital solitary kidney NCIT:C101220 NCIT @@ -99042,8 +99042,8 @@ MONDO:0019642 vitamin D-dependent rickets, type 2 oio:hasExactSynonym VDDR2 N MONDO:0019665 monostotic fibrous dysplasia oio:hasExactSynonym monostotic fibrous dysplasia monostotic fibrous dysplasia Monostotic Fibrous Dysplasia NCIT:C53971 Monostotic Fibrous Dysplasia confirmed monostotic fibrous dysplasia NCIT:C53971 NCIT MONDO:0019665 monostotic fibrous dysplasia oio:hasExactSynonym monostotic fibrous dysplasia of bone monostotic fibrous dysplasia of bone Monostotic Fibrous Dysplasia of Bone NCIT:C53971 Monostotic Fibrous Dysplasia confirmed monostotic fibrous dysplasia of bone NCIT:C53971 NCIT MONDO:0019701 chondrodysplasia punctata oio:hasExactSynonym chondrodysplasia punctata (stippled epiphyses) Group chondrodysplasia punctata (stippled epiphyses) Group Chondrodysplasia Punctata (Stippled Epiphyses) Group NCIT:C84632 Chondrodysplasia Punctata confirmed chondrodysplasia punctata (stippled epiphyses) Group NCIT:C84632 NCIT -MONDO:0019722 glomerular disorder oio:hasExactSynonym glomerulopathy glomerulopathy Glomerulopathy NCIT:C120887 Glomerulopathy confirmed glomerulopathy NCIT:C120887 NCIT MONDO:0019722 glomerular disorder oio:hasExactSynonym glomerulopathy glomerulopathy GLOMERULOPATHY NCIT:C120887 Glomerulopathy confirmed glomerulopathy NCIT:C120887 NCIT +MONDO:0019722 glomerular disorder oio:hasExactSynonym glomerulopathy glomerulopathy Glomerulopathy NCIT:C120887 Glomerulopathy confirmed glomerulopathy NCIT:C120887 NCIT MONDO:0019728 heavy chain deposition disease oio:hasExactSynonym HCDD NCIT:C7339 Heavy Chain Deposition Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed HCDD NCIT:C7339 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019729 light and heavy chain deposition disease oio:hasExactSynonym LHCDD NCIT:C158965 Light and Heavy Chain Deposition Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed LHCDD NCIT:C158965 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0019730 light chain deposition disease oio:hasExactSynonym Bence Jones myeloma Bence Jones myeloma Bence Jones Myeloma NCIT:C7727 Light Chain Deposition Disease confirmed Bence Jones myeloma NCIT:C7727 NCIT @@ -99170,13 +99170,13 @@ MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym a MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym acute myelocytic leukemia with maturation acute myelocytic leukemia with maturation Acute Myelocytic Leukemia with Maturation NCIT:C3250 Acute Myeloid Leukemia with Maturation confirmed acute myelocytic leukemia with maturation NCIT:C3250 NCIT MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym acute myelogenous leukemia with maturation acute myelogenous leukemia with maturation Acute Myelogenous Leukemia with Maturation NCIT:C3250 Acute Myeloid Leukemia with Maturation confirmed acute myelogenous leukemia with maturation NCIT:C3250 NCIT MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym acute myeloid leukemia (AML-M2) acute myeloid leukemia (AML-M2) Acute Myeloid Leukemia (AML-M2) NCIT:C3250 Acute Myeloid Leukemia with Maturation confirmed acute myeloid leukemia (AML-M2) NCIT:C3250 NCIT -MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym acute myeloid leukemia with maturation acute myeloid leukemia with maturation Acute Myeloid Leukemia with Maturation NCIT:C3250 Acute Myeloid Leukemia with Maturation confirmed acute myeloid leukemia with maturation NCIT:C3250 NCIT MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym acute myeloid leukemia with maturation acute myeloid leukemia with maturation Acute myeloid leukemia with maturation NCIT:C3250 Acute Myeloid Leukemia with Maturation confirmed acute myeloid leukemia with maturation NCIT:C3250 NCIT +MONDO:0020320 acute myeloblastic leukemia with maturation oio:hasExactSynonym acute myeloid leukemia with maturation acute myeloid leukemia with maturation Acute Myeloid Leukemia with Maturation NCIT:C3250 Acute Myeloid Leukemia with Maturation confirmed acute myeloid leukemia with maturation NCIT:C3250 NCIT MONDO:0020321 acute undifferentiated leukemia oio:hasExactSynonym acute undifferentiated leukemia acute undifferentiated leukemia Acute Undifferentiated Leukemia NCIT:C9298 Acute Undifferentiated Leukemia confirmed acute undifferentiated leukemia NCIT:C9298 NCIT MONDO:0020321 acute undifferentiated leukemia oio:hasExactSynonym leukemia stem cell leukemia stem cell Leukemia Stem Cell NCIT:C9298 Acute Undifferentiated Leukemia confirmed leukemia stem cell NCIT:C9298 NCIT MONDO:0020321 acute undifferentiated leukemia oio:hasExactSynonym stem cell acute leukemia stem cell acute leukemia Stem Cell Acute Leukemia NCIT:C9298 Acute Undifferentiated Leukemia confirmed stem cell acute leukemia NCIT:C9298 NCIT -MONDO:0020321 acute undifferentiated leukemia oio:hasExactSynonym stem cell leukemia stem cell leukemia Stem cell leukemia NCIT:C9298 Acute Undifferentiated Leukemia confirmed stem cell leukemia NCIT:C9298 NCIT MONDO:0020321 acute undifferentiated leukemia oio:hasExactSynonym stem cell leukemia stem cell leukemia Stem Cell Leukemia NCIT:C9298 Acute Undifferentiated Leukemia confirmed stem cell leukemia NCIT:C9298 NCIT +MONDO:0020321 acute undifferentiated leukemia oio:hasExactSynonym stem cell leukemia stem cell leukemia Stem cell leukemia NCIT:C9298 Acute Undifferentiated Leukemia confirmed stem cell leukemia NCIT:C9298 NCIT MONDO:0020321 acute undifferentiated leukemia oio:hasExactSynonym undifferentiated acute leukemia undifferentiated acute leukemia Undifferentiated Acute Leukemia NCIT:C9298 Acute Undifferentiated Leukemia confirmed undifferentiated acute leukemia NCIT:C9298 NCIT MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym B-cell diffuse large cell lymphoma of mediastinum B-cell diffuse large cell lymphoma of mediastinum B-Cell Diffuse Large Cell Lymphoma of Mediastinum NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma confirmed B-cell diffuse large cell lymphoma of mediastinum NCIT:C9280 NCIT MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym B-cell diffuse large cell lymphoma of the mediastinum B-cell diffuse large cell lymphoma of the mediastinum B-Cell Diffuse Large Cell Lymphoma of the Mediastinum NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma confirmed B-cell diffuse large cell lymphoma of the mediastinum NCIT:C9280 NCIT @@ -99189,10 +99189,10 @@ MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym pri MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym PMBL NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PMBL NCIT:C9280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020323 primary mediastinal large B-cell lymphoma oio:hasExactSynonym PMLCL NCIT:C9280 Primary Mediastinal Large B-Cell Lymphoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed PMLCL NCIT:C9280 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic large cell lymphoma angiotropic large cell lymphoma Angiotropic Large Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed angiotropic large cell lymphoma NCIT:C4342 NCIT -MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed angiotropic lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed angiotropic lymphoma NCIT:C4342 NCIT -MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular B-cell lymphoma intravascular B-cell lymphoma Intravascular B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular B-cell lymphoma NCIT:C4342 NCIT +MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym angiotropic lymphoma angiotropic lymphoma Angiotropic Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed angiotropic lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular B-cell lymphoma intravascular B-cell lymphoma Intravascular B-Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular B-cell lymphoma NCIT:C4342 NCIT +MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular B-cell lymphoma intravascular B-cell lymphoma Intravascular B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular B-cell lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular Large B-Cell Lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular large B-cell lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym intravascular large B-cell lymphoma intravascular large B-cell lymphoma Intravascular large B-cell lymphoma NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed intravascular large B-cell lymphoma NCIT:C4342 NCIT MONDO:0020324 intravascular large B-cell lymphoma oio:hasExactSynonym malignant angioendotheliomatosis malignant angioendotheliomatosis Malignant Angioendotheliomatosis NCIT:C4342 Intravascular Large B-Cell Lymphoma confirmed malignant angioendotheliomatosis NCIT:C4342 NCIT @@ -99245,14 +99245,14 @@ MONDO:0020513 spermatocytic seminoma oio:hasExactSynonym testicular spermatocyt MONDO:0020516 thymic neuroendocrine carcinoma oio:hasExactSynonym thymic neuroendocrine carcinoma thymic neuroendocrine carcinoma Thymic Neuroendocrine Carcinoma NCIT:C171031 Thymic Neuroendocrine Carcinoma confirmed thymic neuroendocrine carcinoma NCIT:C171031 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym Monostotic Langerhans cell histiocytosis Monostotic Langerhans cell histiocytosis Monostotic Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma confirmed Monostotic Langerhans cell histiocytosis NCIT:C3016 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym chronic unifocal Langerhans cell histiocytosis chronic unifocal Langerhans cell histiocytosis Chronic Unifocal Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma confirmed chronic unifocal Langerhans cell histiocytosis NCIT:C3016 NCIT -MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic Granuloma NCIT:C3016 Eosinophilic Granuloma confirmed eosinophilic granuloma NCIT:C3016 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic granuloma NCIT:C3016 Eosinophilic Granuloma confirmed eosinophilic granuloma NCIT:C3016 NCIT +MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic granuloma eosinophilic granuloma Eosinophilic Granuloma NCIT:C3016 Eosinophilic Granuloma confirmed eosinophilic granuloma NCIT:C3016 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym eosinophilic xanthomatous granuloma eosinophilic xanthomatous granuloma Eosinophilic Xanthomatous Granuloma NCIT:C3016 Eosinophilic Granuloma confirmed eosinophilic xanthomatous granuloma NCIT:C3016 NCIT MONDO:0020517 eosinophilic granuloma oio:hasExactSynonym unifocal Langerhans cell histiocytosis unifocal Langerhans cell histiocytosis Unifocal Langerhans Cell Histiocytosis NCIT:C3016 Eosinophilic Granuloma confirmed unifocal Langerhans cell histiocytosis NCIT:C3016 NCIT MONDO:0020519 hand-Schuller-Christian disease oio:hasExactSynonym classic multifocal Langerhans cell histiocytosis classic multifocal Langerhans cell histiocytosis Classic Multifocal Langerhans Cell Histiocytosis NCIT:C6920 Hand-Schuller-Christian Disease confirmed classic multifocal Langerhans cell histiocytosis NCIT:C6920 NCIT MONDO:0020519 hand-Schuller-Christian disease oio:hasExactSynonym hand-SChüller-Christian disease hand-SChüller-Christian disease Hand-Schüller-Christian Disease NCIT:C6920 Hand-Schuller-Christian Disease confirmed hand-SChüller-Christian disease NCIT:C6920 NCIT -MONDO:0020519 hand-Schuller-Christian disease oio:hasExactSynonym hand-Schuller-Christian disease hand-Schuller-Christian disease Hand-Schuller-Christian disease NCIT:C6920 Hand-Schuller-Christian Disease confirmed hand-Schuller-Christian disease NCIT:C6920 NCIT MONDO:0020519 hand-Schuller-Christian disease oio:hasExactSynonym hand-Schuller-Christian disease hand-Schuller-Christian disease Hand-Schuller-Christian Disease NCIT:C6920 Hand-Schuller-Christian Disease confirmed hand-Schuller-Christian disease NCIT:C6920 NCIT +MONDO:0020519 hand-Schuller-Christian disease oio:hasExactSynonym hand-Schuller-Christian disease hand-Schuller-Christian disease Hand-Schuller-Christian disease NCIT:C6920 Hand-Schuller-Christian Disease confirmed hand-Schuller-Christian disease NCIT:C6920 NCIT MONDO:0020519 hand-Schuller-Christian disease oio:hasExactSynonym multifocal Unisystem Langerhans cell histiocytosis multifocal Unisystem Langerhans cell histiocytosis Multifocal Unisystem Langerhans Cell Histiocytosis NCIT:C6920 Hand-Schuller-Christian Disease confirmed multifocal Unisystem Langerhans cell histiocytosis NCIT:C6920 NCIT MONDO:0020520 adult pulmonary Langerhans cell histiocytosis oio:hasExactSynonym pulmonary Langerhans cell histiocytosis pulmonary Langerhans cell histiocytosis Pulmonary Langerhans Cell Histiocytosis NCIT:C142833 Pulmonary Langerhans Cell Histiocytosis confirmed pulmonary Langerhans cell histiocytosis NCIT:C142833 NCIT MONDO:0020520 adult pulmonary Langerhans cell histiocytosis oio:hasExactSynonym pulmonary eosinophilic granuloma pulmonary eosinophilic granuloma Pulmonary Eosinophilic Granuloma NCIT:C142833 Pulmonary Langerhans Cell Histiocytosis confirmed pulmonary eosinophilic granuloma NCIT:C142833 NCIT @@ -99273,16 +99273,16 @@ MONDO:0020541 maligant granulosa cell tumor of ovary oio:hasExactSynonym malign MONDO:0020541 maligant granulosa cell tumor of ovary oio:hasExactSynonym malignant ovarian granulosa cell tumor malignant ovarian granulosa cell tumor Malignant Ovarian Granulosa Cell Tumor NCIT:C8403 Malignant Ovarian Granulosa Cell Tumor confirmed malignant ovarian granulosa cell tumor NCIT:C8403 NCIT MONDO:0020546 acute graft versus host disease oio:hasExactSynonym fulminant graft versus host disease fulminant graft versus host disease Fulminant Graft Versus Host Disease NCIT:C4980 Acute Graft Versus Host Disease confirmed fulminant graft versus host disease NCIT:C4980 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma chorioadenoma Chorioadenoma NCIT:C6985 Invasive Hydatidiform Mole confirmed chorioadenoma NCIT:C6985 NCIT -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma Destruens chorioadenoma Destruens Chorioadenoma destruens NCIT:C6985 Invasive Hydatidiform Mole confirmed chorioadenoma Destruens NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma Destruens chorioadenoma Destruens Chorioadenoma Destruens NCIT:C6985 Invasive Hydatidiform Mole confirmed chorioadenoma Destruens NCIT:C6985 NCIT -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma destruens chorioadenoma destruens Chorioadenoma destruens NCIT:C6985 Invasive Hydatidiform Mole confirmed chorioadenoma destruens NCIT:C6985 NCIT +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma Destruens chorioadenoma Destruens Chorioadenoma destruens NCIT:C6985 Invasive Hydatidiform Mole confirmed chorioadenoma Destruens NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma destruens chorioadenoma destruens Chorioadenoma Destruens NCIT:C6985 Invasive Hydatidiform Mole confirmed chorioadenoma destruens NCIT:C6985 NCIT +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym chorioadenoma destruens chorioadenoma destruens Chorioadenoma destruens NCIT:C6985 Invasive Hydatidiform Mole confirmed chorioadenoma destruens NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive Mole invasive Mole Invasive Mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive Mole NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive gestational trophoblastic neoplasm invasive gestational trophoblastic neoplasm Invasive Gestational Trophoblastic Neoplasm NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive gestational trophoblastic neoplasm NCIT:C6985 NCIT -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform Mole NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform Mole NCIT:C6985 NCIT -MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform mole NCIT:C6985 NCIT +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform Mole invasive hydatidiform Mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform Mole NCIT:C6985 NCIT MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive hydatidiform mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform mole NCIT:C6985 NCIT +MONDO:0020549 invasive hydatidiform mole oio:hasExactSynonym invasive hydatidiform mole invasive hydatidiform mole Invasive Hydatidiform Mole NCIT:C6985 Invasive Hydatidiform Mole confirmed invasive hydatidiform mole NCIT:C6985 NCIT MONDO:0020550 gestational choriocarcinoma oio:hasExactSynonym gestational choriocarcinoma gestational choriocarcinoma Gestational Choriocarcinoma NCIT:C4646 Gestational Choriocarcinoma confirmed gestational choriocarcinoma NCIT:C4646 NCIT MONDO:0020552 placental site trophoblastic tumor oio:hasExactSynonym placental site gestational trophoblastic tumor placental site gestational trophoblastic tumor Placental Site Gestational Trophoblastic Tumor NCIT:C3757 Placental Site Trophoblastic Tumor confirmed placental site gestational trophoblastic tumor NCIT:C3757 NCIT MONDO:0020552 placental site trophoblastic tumor oio:hasExactSynonym placental site trophoblastic tumor placental site trophoblastic tumor Placental Site Trophoblastic Tumor NCIT:C3757 Placental Site Trophoblastic Tumor confirmed placental site trophoblastic tumor NCIT:C3757 NCIT @@ -99375,8 +99375,8 @@ MONDO:0020599 acquired coagulation factor deficiency oio:hasExactSynonym acquir MONDO:0020600 acute pharyngitis oio:hasExactSynonym acute pharyngitis acute pharyngitis Acute Pharyngitis NCIT:C34355 Acute Pharyngitis confirmed acute pharyngitis NCIT:C34355 NCIT MONDO:0020601 mosquito-borne viral encephalitis oio:hasExactSynonym mosquito-borne viral encephalitis mosquito-borne viral encephalitis Mosquito-Borne Viral Encephalitis NCIT:C34823 Mosquito-Borne Viral Encephalitis confirmed mosquito-borne viral encephalitis NCIT:C34823 NCIT MONDO:0020633 anaplastic cancer oio:hasExactSynonym anaplastic malignant neoplasm anaplastic malignant neoplasm Anaplastic Malignant Neoplasm NCIT:C36025 Anaplastic Malignant Neoplasm confirmed anaplastic malignant neoplasm NCIT:C36025 NCIT -MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma WHO Grade III Meningioma NCIT:C38938 Grade 3 Meningioma confirmed WHO grade III meningioma NCIT:C38938 NCIT MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma Who Grade III Meningioma NCIT:C38938 Grade 3 Meningioma confirmed WHO grade III meningioma NCIT:C38938 NCIT +MONDO:0020634 grade III meningioma oio:hasExactSynonym WHO grade III meningioma WHO grade III meningioma WHO Grade III Meningioma NCIT:C38938 Grade 3 Meningioma confirmed WHO grade III meningioma NCIT:C38938 NCIT MONDO:0020634 grade III meningioma oio:hasExactSynonym grade 3 meningioma grade 3 meningioma Grade 3 Meningioma NCIT:C38938 Grade 3 Meningioma confirmed grade 3 meningioma NCIT:C38938 NCIT MONDO:0020634 grade III meningioma oio:hasExactSynonym grade III meningioma grade III meningioma Grade III Meningioma NCIT:C38938 Grade 3 Meningioma confirmed grade III meningioma NCIT:C38938 NCIT MONDO:0020634 grade III meningioma oio:hasExactSynonym meningioma, malignant meningioma, malignant MENINGIOMA, MALIGNANT NCIT:C38938 Grade 3 Meningioma confirmed meningioma, malignant NCIT:C38938 NCIT @@ -99431,8 +99431,8 @@ MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactS MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactSynonym human papilloma virus-related squamous cell carcinoma human papilloma virus-related squamous cell carcinoma Human Papilloma Virus-Related Squamous Cell Carcinoma NCIT:C27683 Human Papillomavirus-Related Squamous Cell Carcinoma confirmed human papilloma virus-related squamous cell carcinoma NCIT:C27683 NCIT MONDO:0020657 human papillomavirus-related squamous cell carcinoma oio:hasExactSynonym human papillomavirus-related squamous cell carcinoma human papillomavirus-related squamous cell carcinoma Human Papillomavirus-Related Squamous Cell Carcinoma NCIT:C27683 Human Papillomavirus-Related Squamous Cell Carcinoma confirmed human papillomavirus-related squamous cell carcinoma NCIT:C27683 NCIT MONDO:0020660 osteoblastic osteosarcoma oio:hasExactSynonym osteoblastic osteosarcoma osteoblastic osteosarcoma Osteoblastic Osteosarcoma NCIT:C53953 Osteoblastic Osteosarcoma confirmed osteoblastic osteosarcoma NCIT:C53953 NCIT -MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated Round Cell Sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma confirmed undifferentiated round cell sarcoma NCIT:C121799 NCIT MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated round cell sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma confirmed undifferentiated round cell sarcoma NCIT:C121799 NCIT +MONDO:0020661 undifferentiated round cell sarcoma oio:hasExactSynonym undifferentiated round cell sarcoma undifferentiated round cell sarcoma Undifferentiated Round Cell Sarcoma NCIT:C121799 Undifferentiated Round Cell Sarcoma confirmed undifferentiated round cell sarcoma NCIT:C121799 NCIT MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline ovarian serous neoplasm borderline ovarian serous neoplasm Borderline Ovarian Serous Neoplasm NCIT:C5226 Borderline Ovarian Serous Tumor confirmed borderline ovarian serous neoplasm NCIT:C5226 NCIT MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline ovarian serous tumor borderline ovarian serous tumor Borderline Ovarian Serous Tumor NCIT:C5226 Borderline Ovarian Serous Tumor confirmed borderline ovarian serous tumor NCIT:C5226 NCIT MONDO:0020662 borderline ovarian serous tumor oio:hasExactSynonym borderline serous neoplasm of ovary borderline serous neoplasm of ovary Borderline Serous Neoplasm of Ovary NCIT:C5226 Borderline Ovarian Serous Tumor confirmed borderline serous neoplasm of ovary NCIT:C5226 NCIT @@ -99677,8 +99677,8 @@ MONDO:0021050 vaginal neoplasm oio:hasExactSynonym vaginal neoplasm vaginal neo MONDO:0021050 vaginal neoplasm oio:hasExactSynonym vaginal tumor vaginal tumor Vaginal Tumor NCIT:C3437 Vaginal Neoplasm confirmed vaginal tumor NCIT:C3437 NCIT MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic Extra-adrenal paraganglioma parasympathetic Extra-adrenal paraganglioma Parasympathetic Extra-Adrenal Paraganglioma NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic Extra-adrenal paraganglioma NCIT:C4217 NCIT MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic Paraganglionic neoplasm parasympathetic Paraganglionic neoplasm Parasympathetic Paraganglionic Neoplasm NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic Paraganglionic neoplasm NCIT:C4217 NCIT -MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic paraganglioma NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic paraganglioma NCIT:C4217 NCIT MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic Paraganglioma NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic paraganglioma NCIT:C4217 NCIT +MONDO:0021052 parasympathetic paraganglioma oio:hasExactSynonym parasympathetic paraganglioma parasympathetic paraganglioma Parasympathetic paraganglioma NCIT:C4217 Parasympathetic Paraganglioma confirmed parasympathetic paraganglioma NCIT:C4217 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid Body Paraganglioma NCIT:C2932 Carotid Body Paraganglioma confirmed carotid body paraganglioma NCIT:C2932 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym carotid body paraganglioma carotid body paraganglioma Carotid body paraganglioma NCIT:C2932 Carotid Body Paraganglioma confirmed carotid body paraganglioma NCIT:C2932 NCIT MONDO:0021053 carotid body paraganglioma oio:hasExactSynonym paraganglioma of carotid body paraganglioma of carotid body Paraganglioma of Carotid Body NCIT:C2932 Carotid Body Paraganglioma confirmed paraganglioma of carotid body NCIT:C2932 NCIT @@ -99689,8 +99689,8 @@ MONDO:0021054 bone sarcoma oio:hasExactSynonym sarcoma of the bone sarcoma of t MONDO:0021054 bone sarcoma oio:hasExactSynonym skeletal sarcoma skeletal sarcoma Skeletal Sarcoma NCIT:C9312 Bone Sarcoma confirmed skeletal sarcoma NCIT:C9312 NCIT MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym APC - adenomatous polyposis coli APC - adenomatous polyposis coli APC - Adenomatous Polyposis Coli NCIT:C3339 Familial Adenomatous Polyposis confirmed APC - adenomatous polyposis coli NCIT:C3339 NCIT MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym Familial Adenomatous Polyposis NCIT:C3339 Familial Adenomatous Polyposis confirmed Familial Adenomatous Polyposis NCIT:C3339 NCIT -MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym adenomatous polyposis coli adenomatous polyposis coli Adenomatous polyposis coli NCIT:C3339 Familial Adenomatous Polyposis confirmed adenomatous polyposis coli NCIT:C3339 NCIT MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym adenomatous polyposis coli adenomatous polyposis coli Adenomatous Polyposis Coli NCIT:C3339 Familial Adenomatous Polyposis confirmed adenomatous polyposis coli NCIT:C3339 NCIT +MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym adenomatous polyposis coli adenomatous polyposis coli Adenomatous polyposis coli NCIT:C3339 Familial Adenomatous Polyposis confirmed adenomatous polyposis coli NCIT:C3339 NCIT MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym familial adenomatous polyposis familial adenomatous polyposis Familial Adenomatous Polyposis NCIT:C3339 Familial Adenomatous Polyposis confirmed familial adenomatous polyposis NCIT:C3339 NCIT MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym familial adenomatous polyposis coli familial adenomatous polyposis coli Familial Adenomatous Polyposis Coli NCIT:C3339 Familial Adenomatous Polyposis confirmed familial adenomatous polyposis coli NCIT:C3339 NCIT MONDO:0021055 classic familial adenomatous polyposis oio:hasExactSynonym familial adenomatous polyposis syndrome familial adenomatous polyposis syndrome Familial Adenomatous Polyposis Syndrome NCIT:C3339 Familial Adenomatous Polyposis confirmed familial adenomatous polyposis syndrome NCIT:C3339 NCIT @@ -99718,8 +99718,8 @@ MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym glomus jugulare MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym glomus jugulare tumor glomus jugulare tumor Glomus Jugulare Tumor NCIT:C3061 Jugulotympanic Paraganglioma confirmed glomus jugulare tumor NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugular paraganglioma jugular paraganglioma Jugular Paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugular paraganglioma NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugular paraganglioma jugular paraganglioma Jugular paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugular paraganglioma NCIT:C3061 NCIT -MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic Paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugulotympanic paraganglioma NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugulotympanic paraganglioma NCIT:C3061 NCIT +MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym jugulotympanic paraganglioma jugulotympanic paraganglioma Jugulotympanic Paraganglioma NCIT:C3061 Jugulotympanic Paraganglioma confirmed jugulotympanic paraganglioma NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym neoplasm of glomus jugulare neoplasm of glomus jugulare Neoplasm of Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma confirmed neoplasm of glomus jugulare NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym neoplasm of the glomus jugulare neoplasm of the glomus jugulare Neoplasm of the Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma confirmed neoplasm of the glomus jugulare NCIT:C3061 NCIT MONDO:0021064 jugulotympanic paraganglioma oio:hasExactSynonym tumor of glomus jugulare tumor of glomus jugulare Tumor of Glomus Jugulare NCIT:C3061 Jugulotympanic Paraganglioma confirmed tumor of glomus jugulare NCIT:C3061 NCIT @@ -99889,8 +99889,8 @@ MONDO:0021109 inverted urothelial papilloma oio:hasExactSynonym urinary tract i MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma of sweat gland adenoma of sweat gland Adenoma of Sweat Gland NCIT:C7560 Sweat Gland Adenoma confirmed adenoma of sweat gland NCIT:C7560 NCIT MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma of the sweat gland adenoma of the sweat gland Adenoma of the Sweat Gland NCIT:C7560 Sweat Gland Adenoma confirmed adenoma of the sweat gland NCIT:C7560 NCIT MONDO:0021110 sweat gland adenoma oio:hasExactSynonym adenoma, sweat gland, benign adenoma, sweat gland, benign ADENOMA, SWEAT GLAND, BENIGN NCIT:C7560 Sweat Gland Adenoma confirmed adenoma, sweat gland, benign NCIT:C7560 NCIT -MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma confirmed sweat gland adenoma NCIT:C7560 NCIT MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat gland adenoma NCIT:C7560 Sweat Gland Adenoma confirmed sweat gland adenoma NCIT:C7560 NCIT +MONDO:0021110 sweat gland adenoma oio:hasExactSynonym sweat gland adenoma sweat gland adenoma Sweat Gland Adenoma NCIT:C7560 Sweat Gland Adenoma confirmed sweat gland adenoma NCIT:C7560 NCIT MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasm of the ureter neoplasm of the ureter Neoplasm of the Ureter NCIT:C3427 Ureter Neoplasm confirmed neoplasm of the ureter NCIT:C3427 NCIT MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasm of ureter neoplasm of ureter Neoplasm of Ureter NCIT:C3427 Ureter Neoplasm confirmed neoplasm of ureter NCIT:C3427 NCIT MONDO:0021111 ureter neoplasm oio:hasExactSynonym neoplasms of the ureter neoplasms of the ureter Neoplasms of the Ureter NCIT:C3427 Ureter Neoplasm confirmed neoplasms of the ureter NCIT:C3427 NCIT @@ -99969,11 +99969,11 @@ MONDO:0021148 female reproductive system neoplasm oio:hasExactSynonym tumor of MONDO:0021156 hypophysitis oio:hasExactSynonym hypophysis hypophysis Hypophysis NCIT:C12399 Pituitary Gland confirmed hypophysis NCIT:C12399 NCIT MONDO:0021156 hypophysitis oio:hasExactSynonym hypophysis cerebri hypophysis cerebri Hypophysis Cerebri NCIT:C12399 Pituitary Gland confirmed hypophysis cerebri NCIT:C12399 NCIT MONDO:0021156 hypophysitis oio:hasExactSynonym nervous system, pituitary nervous system, pituitary Nervous System, Pituitary NCIT:C12399 Pituitary Gland confirmed nervous system, pituitary NCIT:C12399 NCIT -MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary pituitary Pituitary NCIT:C12399 Pituitary Gland confirmed pituitary NCIT:C12399 NCIT MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary NCIT:C12399 Pituitary Gland confirmed pituitary NCIT:C12399 NCIT +MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary pituitary Pituitary NCIT:C12399 Pituitary Gland confirmed pituitary NCIT:C12399 NCIT +MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary gland NCIT:C12399 Pituitary Gland confirmed pituitary gland NCIT:C12399 NCIT MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland NCIT:C12399 Pituitary Gland confirmed pituitary gland NCIT:C12399 NCIT MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary Gland NCIT:C12399 Pituitary Gland confirmed pituitary gland NCIT:C12399 NCIT -MONDO:0021156 hypophysitis oio:hasExactSynonym pituitary gland pituitary gland Pituitary gland NCIT:C12399 Pituitary Gland confirmed pituitary gland NCIT:C12399 NCIT MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney neoplasm kidney neoplasm Kidney Neoplasm NCIT:C3150 Kidney Neoplasm confirmed kidney neoplasm NCIT:C3150 NCIT MONDO:0021163 kidney neoplasm oio:hasExactSynonym kidney tumor kidney tumor Kidney Tumor NCIT:C3150 Kidney Neoplasm confirmed kidney tumor NCIT:C3150 NCIT MONDO:0021163 kidney neoplasm oio:hasExactSynonym neoplasm of kidney neoplasm of kidney Neoplasm of Kidney NCIT:C3150 Kidney Neoplasm confirmed neoplasm of kidney NCIT:C3150 NCIT @@ -99989,16 +99989,16 @@ MONDO:0021165 Paget disease oio:hasExactSynonym Paget's disease Paget's disease MONDO:0021166 inflammatory disease oio:hasExactSynonym inflammatory disease inflammatory disease Inflammatory Disease NCIT:C93210 Inflammatory Disorder confirmed inflammatory disease NCIT:C93210 NCIT MONDO:0021166 inflammatory disease oio:hasExactSynonym inflammatory disorder inflammatory disorder Inflammatory Disorder NCIT:C93210 Inflammatory Disorder confirmed inflammatory disorder NCIT:C93210 NCIT MONDO:0021168 hibernoma oio:hasExactSynonym Brown fat neoplasm Brown fat neoplasm Brown Fat Neoplasm NCIT:C3702 Hibernoma confirmed Brown fat neoplasm NCIT:C3702 NCIT -MONDO:0021168 hibernoma oio:hasExactSynonym Brown fat tumor NCIT:C3702 Hibernoma confirmed Brown fat tumor NCIT:C3702 NCIT MONDO:0021168 hibernoma oio:hasExactSynonym Brown fat tumor Brown fat tumor Brown Fat Tumor NCIT:C3702 Hibernoma confirmed Brown fat tumor NCIT:C3702 NCIT +MONDO:0021168 hibernoma oio:hasExactSynonym Brown fat tumor NCIT:C3702 Hibernoma confirmed Brown fat tumor NCIT:C3702 NCIT MONDO:0021168 hibernoma oio:hasExactSynonym fetal fat cell lipoma fetal fat cell lipoma Fetal Fat Cell Lipoma NCIT:C3702 Hibernoma confirmed fetal fat cell lipoma NCIT:C3702 NCIT MONDO:0021168 hibernoma oio:hasExactSynonym fetal fat cell lipoma fetal fat cell lipoma Fetal fat cell lipoma NCIT:C3702 Hibernoma confirmed fetal fat cell lipoma NCIT:C3702 NCIT MONDO:0021168 hibernoma oio:hasExactSynonym hibernoma hibernoma Hibernoma NCIT:C3702 Hibernoma confirmed hibernoma NCIT:C3702 NCIT MONDO:0021168 hibernoma oio:hasExactSynonym hibernoma, benign hibernoma, benign HIBERNOMA, BENIGN NCIT:C3702 Hibernoma confirmed hibernoma, benign NCIT:C3702 NCIT -MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid hemangioma epithelioid hemangioma Epithelioid Hemangioma NCIT:C4298 Epithelioid Hemangioma confirmed epithelioid hemangioma NCIT:C4298 NCIT MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid hemangioma epithelioid hemangioma Epithelioid hemangioma NCIT:C4298 Epithelioid Hemangioma confirmed epithelioid hemangioma NCIT:C4298 NCIT -MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym histiocytoid hemangioma histiocytoid hemangioma Histiocytoid Hemangioma NCIT:C4298 Epithelioid Hemangioma confirmed histiocytoid hemangioma NCIT:C4298 NCIT +MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym epithelioid hemangioma epithelioid hemangioma Epithelioid Hemangioma NCIT:C4298 Epithelioid Hemangioma confirmed epithelioid hemangioma NCIT:C4298 NCIT MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym histiocytoid hemangioma histiocytoid hemangioma Histiocytoid hemangioma NCIT:C4298 Epithelioid Hemangioma confirmed histiocytoid hemangioma NCIT:C4298 NCIT +MONDO:0021169 epithelioid hemangioma oio:hasExactSynonym histiocytoid hemangioma histiocytoid hemangioma Histiocytoid Hemangioma NCIT:C4298 Epithelioid Hemangioma confirmed histiocytoid hemangioma NCIT:C4298 NCIT MONDO:0021175 herpetic vulvovaginitis oio:hasExactSynonym herpetic vulvovaginitis herpetic vulvovaginitis Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis confirmed herpetic vulvovaginitis NCIT:C34697 NCIT MONDO:0021178 injury oio:hasExactSynonym injury injury Injury NCIT:C3671 Injury confirmed injury NCIT:C3671 NCIT MONDO:0021178 injury oio:hasExactSynonym trauma trauma Trauma NCIT:C3671 Injury confirmed trauma NCIT:C3671 NCIT @@ -100391,8 +100391,8 @@ MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epigl MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epiglottic carcinoma aJCC v8 stage 0 epiglottic carcinoma aJCC v8 Stage 0 Epiglottic Carcinoma AJCC v8 NCIT:C4592 Stage 0 Epiglottic Carcinoma AJCC v6, v7, and v8 confirmed stage 0 epiglottic carcinoma aJCC v8 NCIT:C4592 NCIT MONDO:0021287 carcinoma in situ of epiglottis oio:hasExactSynonym stage 0 epiglottic throat cancer stage 0 epiglottic throat cancer Stage 0 Epiglottic Throat Cancer NCIT:C4592 Stage 0 Epiglottic Carcinoma AJCC v6, v7, and v8 confirmed stage 0 epiglottic throat cancer NCIT:C4592 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of hypopharynx carcinoma in situ of hypopharynx Carcinoma in situ of Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed carcinoma in situ of hypopharynx NCIT:C9101 NCIT -MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma in situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed carcinoma in situ of the hypopharynx NCIT:C9101 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma In Situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed carcinoma in situ of the hypopharynx NCIT:C9101 NCIT +MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym carcinoma in situ of the hypopharynx carcinoma in situ of the hypopharynx Carcinoma in situ of the Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed carcinoma in situ of the hypopharynx NCIT:C9101 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym hypopharyngeal carcinoma in situ hypopharyngeal carcinoma in situ Hypopharyngeal Carcinoma in situ NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed hypopharyngeal carcinoma in situ NCIT:C9101 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym hypopharynx carcinoma in situ hypopharynx carcinoma in situ Hypopharynx Carcinoma in situ NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed hypopharynx carcinoma in situ NCIT:C9101 NCIT MONDO:0021288 carcinoma in situ of hypopharynx oio:hasExactSynonym stage 0 carcinoma of hypopharynx stage 0 carcinoma of hypopharynx Stage 0 Carcinoma of Hypopharynx NCIT:C9101 Stage 0 Hypopharyngeal Carcinoma AJCC v6, v7, and v8 confirmed stage 0 carcinoma of hypopharynx NCIT:C9101 NCIT @@ -100810,8 +100810,8 @@ MONDO:0021388 neoplasm of chest wall oio:hasExactSynonym neoplasm of the chest MONDO:0021388 neoplasm of chest wall oio:hasExactSynonym tumor of chest wall tumor of chest wall Tumor of Chest Wall NCIT:C4929 Chest Wall Neoplasm confirmed tumor of chest wall NCIT:C4929 NCIT MONDO:0021388 neoplasm of chest wall oio:hasExactSynonym tumor of the chest wall tumor of the chest wall Tumor of the Chest Wall NCIT:C4929 Chest Wall Neoplasm confirmed tumor of the chest wall NCIT:C4929 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body neoplasm aortic body neoplasm Aortic Body Neoplasm NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body neoplasm NCIT:C4218 NCIT -MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body paraganglioma aortic body paraganglioma Aortic Body Paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body paraganglioma NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body paraganglioma aortic body paraganglioma Aortic body paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body paraganglioma NCIT:C4218 NCIT +MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body paraganglioma aortic body paraganglioma Aortic Body Paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body paraganglioma NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic body tumor NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body tumor NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aortic body tumor aortic body tumor Aortic Body Tumor NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aortic body tumor NCIT:C4218 NCIT MONDO:0021389 neoplasm of aortic body oio:hasExactSynonym aorticopulmonary paraganglioma aorticopulmonary paraganglioma Aorticopulmonary Paraganglioma NCIT:C4218 Aorticopulmonary Paraganglioma confirmed aorticopulmonary paraganglioma NCIT:C4218 NCIT @@ -101650,8 +101650,8 @@ MONDO:0021662 bile duct neoplasm oio:hasExactSynonym intrahepatic and extrahepa MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym epidermoid spindle cell carcinoma epidermoid spindle cell carcinoma Epidermoid Spindle Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed epidermoid spindle cell carcinoma NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym sarcomatoid squamous cell carcinoma sarcomatoid squamous cell carcinoma Sarcomatoid Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed sarcomatoid squamous cell carcinoma NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym spindle cell (sarcomatoid) squamous cell carcinoma spindle cell (sarcomatoid) squamous cell carcinoma Spindle Cell (Sarcomatoid) Squamous Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed spindle cell (sarcomatoid) squamous cell carcinoma NCIT:C27084 NCIT -MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous cell carcinoma, sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, sarcomatoid NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous Cell Carcinoma, Sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, sarcomatoid NCIT:C27084 NCIT +MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, sarcomatoid squamous cell carcinoma, sarcomatoid Squamous cell carcinoma, sarcomatoid NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, sarcomatoid NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, spindle cell squamous cell carcinoma, spindle cell Squamous cell carcinoma, spindle cell NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, spindle cell NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell carcinoma, spindle cell squamous cell carcinoma, spindle cell Squamous Cell Carcinoma, Spindle Cell NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell carcinoma, spindle cell NCIT:C27084 NCIT MONDO:0021663 sarcomatoid squamous cell carcinoma oio:hasExactSynonym squamous cell spindle cell carcinoma squamous cell spindle cell carcinoma Squamous Cell Spindle Cell Carcinoma NCIT:C27084 Spindle Cell Squamous Carcinoma confirmed squamous cell spindle cell carcinoma NCIT:C27084 NCIT @@ -101730,8 +101730,8 @@ MONDO:0022772 classic Kaposi sarcoma oio:hasExactSynonym classic Kaposi's sarco MONDO:0022859 cor biloculare oio:hasExactSynonym Cor Biloculare NCIT:C124591 Cor Biloculare confirmed Cor Biloculare NCIT:C124591 NCIT MONDO:0022859 cor biloculare oio:hasExactSynonym cor biloculare cor biloculare Cor Biloculare NCIT:C124591 Cor Biloculare confirmed cor biloculare NCIT:C124591 NCIT MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic astrocytoma of infancy Desmoplastic astrocytoma of infancy Desmoplastic Astrocytoma of Infancy NCIT:C9476 Desmoplastic Infantile Astrocytoma confirmed Desmoplastic astrocytoma of infancy NCIT:C9476 NCIT -MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic infantile astrocytoma NCIT:C9476 Desmoplastic Infantile Astrocytoma confirmed Desmoplastic infantile astrocytoma NCIT:C9476 NCIT MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic infantile astrocytoma Desmoplastic infantile astrocytoma Desmoplastic Infantile Astrocytoma NCIT:C9476 Desmoplastic Infantile Astrocytoma confirmed Desmoplastic infantile astrocytoma NCIT:C9476 NCIT +MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym Desmoplastic infantile astrocytoma NCIT:C9476 Desmoplastic Infantile Astrocytoma confirmed Desmoplastic infantile astrocytoma NCIT:C9476 NCIT MONDO:0022963 desmoplastic infantile astrocytoma oio:hasExactSynonym DIA NCIT:C9476 Desmoplastic Infantile Astrocytoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed DIA NCIT:C9476 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma confirmed Desmoplastic infantile ganglioglioma NCIT:C4738 NCIT MONDO:0022965 desmoplastic infantile ganglioglioma oio:hasExactSynonym Desmoplastic infantile ganglioglioma Desmoplastic infantile ganglioglioma Desmoplastic Infantile Ganglioglioma NCIT:C4738 Desmoplastic Infantile Ganglioglioma confirmed Desmoplastic infantile ganglioglioma NCIT:C4738 NCIT @@ -101783,8 +101783,8 @@ MONDO:0023601 non-classic congenital adrenal hyperplasia oio:hasExactSynonym la MONDO:0023601 non-classic congenital adrenal hyperplasia oio:hasExactSynonym non-classic congenital adrenal hyperplasia non-classic congenital adrenal hyperplasia Non-Classic Congenital Adrenal Hyperplasia NCIT:C131442 Non-Classic Congenital Adrenal Hyperplasia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed non-classic congenital adrenal hyperplasia NCIT:C131442 NCIT MONDO:0023603 hereditary disorder of connective tissue oio:hasExactSynonym connective tissue hereditary disorder connective tissue hereditary disorder Connective Tissue Hereditary Disorder NCIT:C97075 Hereditary Connective Tissue Disorder confirmed connective tissue hereditary disorder NCIT:C97075 NCIT MONDO:0023603 hereditary disorder of connective tissue oio:hasExactSynonym hereditary connective tissue disorder hereditary connective tissue disorder Hereditary Connective Tissue Disorder NCIT:C97075 Hereditary Connective Tissue Disorder confirmed hereditary connective tissue disorder NCIT:C97075 NCIT -MONDO:0023619 lentigo maligna melanoma oio:hasExactSynonym lentigo maligna melanoma lentigo maligna melanoma Lentigo Maligna Melanoma NCIT:C9151 Lentigo Maligna Melanoma confirmed lentigo maligna melanoma NCIT:C9151 NCIT MONDO:0023619 lentigo maligna melanoma oio:hasExactSynonym lentigo maligna melanoma lentigo maligna melanoma Lentigo maligna melanoma NCIT:C9151 Lentigo Maligna Melanoma confirmed lentigo maligna melanoma NCIT:C9151 NCIT +MONDO:0023619 lentigo maligna melanoma oio:hasExactSynonym lentigo maligna melanoma lentigo maligna melanoma Lentigo Maligna Melanoma NCIT:C9151 Lentigo Maligna Melanoma confirmed lentigo maligna melanoma NCIT:C9151 NCIT MONDO:0023619 lentigo maligna melanoma oio:hasExactSynonym malignant lentigo melanoma malignant lentigo melanoma Malignant Lentigo Melanoma NCIT:C9151 Lentigo Maligna Melanoma confirmed malignant lentigo melanoma NCIT:C9151 NCIT MONDO:0023644 lip and oral cavity carcinoma oio:hasExactSynonym lip and oral cavity cancer lip and oral cavity cancer Lip and Oral Cavity Cancer NCIT:C9315 Lip and Oral Cavity Carcinoma confirmed lip and oral cavity cancer NCIT:C9315 NCIT MONDO:0023644 lip and oral cavity carcinoma oio:hasExactSynonym lip and oral cavity carcinoma lip and oral cavity carcinoma Lip and Oral Cavity Carcinoma NCIT:C9315 Lip and Oral Cavity Carcinoma confirmed lip and oral cavity carcinoma NCIT:C9315 NCIT @@ -101960,8 +101960,8 @@ MONDO:0024483 urothelial hyperplasia oio:hasExactSynonym urothelial hyperplasia MONDO:0024485 papillary urothelial hyperplasia oio:hasExactSynonym papillary urothelial hyperplasia papillary urothelial hyperplasia Papillary Urothelial Hyperplasia NCIT:C27879 Papillary Urothelial Hyperplasia confirmed papillary urothelial hyperplasia NCIT:C27879 NCIT MONDO:0024487 nail infection oio:hasExactSynonym nail infection nail infection Nail Infection NCIT:C78493 Nail Infection confirmed nail infection NCIT:C78493 NCIT MONDO:0024489 general tumor grading characteristic oio:hasExactSynonym disease grade qualifier disease grade qualifier Disease Grade Qualifier NCIT:C28076 Disease Grade Qualifier confirmed disease grade qualifier NCIT:C28076 NCIT -MONDO:0024491 tumor grade 1, general grading system oio:hasExactSynonym grade 1 grade 1 Grade 1 NCIT:C28077 Grade 1 confirmed grade 1 NCIT:C28077 NCIT MONDO:0024491 tumor grade 1, general grading system oio:hasExactSynonym grade 1 grade 1 GRADE 1 NCIT:C28077 Grade 1 confirmed grade 1 NCIT:C28077 NCIT +MONDO:0024491 tumor grade 1, general grading system oio:hasExactSynonym grade 1 grade 1 Grade 1 NCIT:C28077 Grade 1 confirmed grade 1 NCIT:C28077 NCIT MONDO:0024491 tumor grade 1, general grading system oio:hasExactSynonym grade I grade I Grade I NCIT:C28077 Grade 1 confirmed grade I NCIT:C28077 NCIT MONDO:0024491 tumor grade 1, general grading system oio:hasExactSynonym G1 NCIT:C28077 Grade 1 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed G1 NCIT:C28077 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0024492 tumor grade 2, general grading system oio:hasExactSynonym grade 2 grade 2 Grade 2 NCIT:C28078 Grade 2 confirmed grade 2 NCIT:C28078 NCIT @@ -102161,8 +102161,8 @@ MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym benign synovial tumo MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym benign synovioma benign synovioma Benign Synovioma NCIT:C3829 Benign Synovial Neoplasm confirmed benign synovioma NCIT:C3829 NCIT MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym benign tumor of synovium benign tumor of synovium Benign Tumor of Synovium NCIT:C3829 Benign Synovial Neoplasm confirmed benign tumor of synovium NCIT:C3829 NCIT MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym benign tumor of the synovium benign tumor of the synovium Benign Tumor of the Synovium NCIT:C3829 Benign Synovial Neoplasm confirmed benign tumor of the synovium NCIT:C3829 NCIT -MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym synovioma, benign synovioma, benign Synovioma, benign NCIT:C3829 Benign Synovial Neoplasm confirmed synovioma, benign NCIT:C3829 NCIT MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym synovioma, benign synovioma, benign SYNOVIOMA, BENIGN NCIT:C3829 Benign Synovial Neoplasm confirmed synovioma, benign NCIT:C3829 NCIT +MONDO:0024715 benign synovial neoplasm oio:hasExactSynonym synovioma, benign synovioma, benign Synovioma, benign NCIT:C3829 Benign Synovial Neoplasm confirmed synovioma, benign NCIT:C3829 NCIT MONDO:0024744 childhood choroid plexus neoplasm oio:hasExactSynonym childhood choroid plexus neoplasm childhood choroid plexus neoplasm Childhood Choroid Plexus Neoplasm NCIT:C42080 Childhood Choroid Plexus Neoplasm confirmed childhood choroid plexus neoplasm NCIT:C42080 NCIT MONDO:0024746 immature teratoma oio:hasExactSynonym embryonal teratoma embryonal teratoma Embryonal teratoma NCIT:C4286 Immature Teratoma confirmed embryonal teratoma NCIT:C4286 NCIT MONDO:0024746 immature teratoma oio:hasExactSynonym immature teratoma immature teratoma Immature Teratoma NCIT:C4286 Immature Teratoma confirmed immature teratoma NCIT:C4286 NCIT @@ -102226,10 +102226,10 @@ MONDO:0027772 lung colloid adenocarcinoma oio:hasExactSynonym lung colloid aden MONDO:0027772 lung colloid adenocarcinoma oio:hasExactSynonym lung mucinous cystadenocarcinoma lung mucinous cystadenocarcinoma Lung Mucinous Cystadenocarcinoma NCIT:C45512 Lung Colloid Adenocarcinoma confirmed lung mucinous cystadenocarcinoma NCIT:C45512 NCIT MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym cystic partially differentiated nephroblastoma cystic partially differentiated nephroblastoma Cystic Partially Differentiated Nephroblastoma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed cystic partially differentiated nephroblastoma NCIT:C6897 NCIT MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym cystic partially differentiated nephroblastoma cystic partially differentiated nephroblastoma Cystic partially differentiated nephroblastoma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed cystic partially differentiated nephroblastoma NCIT:C6897 NCIT -MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant cystic nephroma NCIT:C6897 NCIT MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant cystic nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant cystic nephroma NCIT:C6897 NCIT -MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant multilocular cystic nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant multilocular cystic nephroma NCIT:C6897 NCIT +MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant cystic nephroma malignant cystic nephroma Malignant Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant cystic nephroma NCIT:C6897 NCIT MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant Multilocular Cystic Nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant multilocular cystic nephroma NCIT:C6897 NCIT +MONDO:0030604 cystic partially differentiated nephroblastoma oio:hasExactSynonym malignant multilocular cystic nephroma malignant multilocular cystic nephroma Malignant multilocular cystic nephroma NCIT:C6897 Cystic Partially Differentiated Kidney Nephroblastoma confirmed malignant multilocular cystic nephroma NCIT:C6897 NCIT MONDO:0030705 Trichomonas prostatitis oio:hasExactSynonym Trichomonas prostatitis Trichomonas prostatitis Trichomonas Prostatitis NCIT:C35176 Trichomonas Prostatitis confirmed Trichomonas prostatitis NCIT:C35176 NCIT MONDO:0030706 Trichomonas cystitis oio:hasExactSynonym Trichomonas cystitis Trichomonas cystitis Trichomonas Cystitis NCIT:C35405 Trichomonas Cystitis confirmed Trichomonas cystitis NCIT:C35405 NCIT MONDO:0030707 Trichomonas balanoposthitis oio:hasExactSynonym Trichomonas balanoposthitis Trichomonas balanoposthitis Trichomonas Balanoposthitis NCIT:C35406 Trichomonas Balanoposthitis confirmed Trichomonas balanoposthitis NCIT:C35406 NCIT @@ -102284,8 +102284,8 @@ MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign neoplasm of MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign neoplasm of the epithelium benign neoplasm of the epithelium Benign Neoplasm of the Epithelium NCIT:C4092 Benign Epithelial Neoplasm confirmed benign neoplasm of the epithelium NCIT:C4092 NCIT MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign tumor of epithelium benign tumor of epithelium Benign Tumor of Epithelium NCIT:C4092 Benign Epithelial Neoplasm confirmed benign tumor of epithelium NCIT:C4092 NCIT MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym benign tumor of the epithelium benign tumor of the epithelium Benign Tumor of the Epithelium NCIT:C4092 Benign Epithelial Neoplasm confirmed benign tumor of the epithelium NCIT:C4092 NCIT -MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym epithelioma, benign epithelioma, benign Epithelioma, benign NCIT:C4092 Benign Epithelial Neoplasm confirmed epithelioma, benign NCIT:C4092 NCIT MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym epithelioma, benign epithelioma, benign EPITHELIOMA, BENIGN NCIT:C4092 Benign Epithelial Neoplasm confirmed epithelioma, benign NCIT:C4092 NCIT +MONDO:0036976 benign epithelial neoplasm oio:hasExactSynonym epithelioma, benign epithelioma, benign Epithelioma, benign NCIT:C4092 Benign Epithelial Neoplasm confirmed epithelioma, benign NCIT:C4092 NCIT MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign Leydig cell tumor, benign LEYDIG CELL TUMOR, BENIGN NCIT:C4212 Benign Leydig Cell Tumor confirmed Leydig cell tumor, benign NCIT:C4212 NCIT MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym Leydig cell tumor, benign NCIT:C4212 Benign Leydig Cell Tumor confirmed Leydig cell tumor, benign NCIT:C4212 NCIT MONDO:0036990 benign Leydig cell tumor oio:hasExactSynonym adenoma, interstitial adenoma, interstitial Adenoma, Interstitial NCIT:C4212 Benign Leydig Cell Tumor confirmed adenoma, interstitial NCIT:C4212 NCIT @@ -102476,8 +102476,8 @@ MONDO:0043103 hypothyroidism due to iodide transport defect oio:hasExactSynonym MONDO:0043103 hypothyroidism due to iodide transport defect oio:hasExactSynonym iodide transport defect iodide transport defect Iodide Transport Defect NCIT:C121747 Iodide Transport Defect confirmed iodide transport defect NCIT:C121747 NCIT MONDO:0043209 albinism oio:hasExactSynonym albinism albinism Albinism NCIT:C84543 Albinism confirmed albinism NCIT:C84543 NCIT MONDO:0043218 neurovascular disorder oio:hasExactSynonym neurovascular disorder neurovascular disorder Neurovascular Disorder NCIT:C117007 Neurovascular Disorder confirmed neurovascular disorder NCIT:C117007 NCIT -MONDO:0043219 migraine with brainstem aura oio:hasExactSynonym basilar-type migraine basilar-type migraine Basilar-Type Migraine NCIT:C117013 Basilar-Type Migraine confirmed basilar-type migraine NCIT:C117013 NCIT MONDO:0043219 migraine with brainstem aura oio:hasExactSynonym basilar-type migraine basilar-type migraine Basilar-type Migraine NCIT:C117013 Basilar-Type Migraine confirmed basilar-type migraine NCIT:C117013 NCIT +MONDO:0043219 migraine with brainstem aura oio:hasExactSynonym basilar-type migraine basilar-type migraine Basilar-Type Migraine NCIT:C117013 Basilar-Type Migraine confirmed basilar-type migraine NCIT:C117013 NCIT MONDO:0043224 multi-infarct dementia oio:hasExactSynonym multi infarct dementia multi infarct dementia Multi Infarct Dementia NCIT:C34522 Multi-Infarct Dementia confirmed multi infarct dementia NCIT:C34522 NCIT MONDO:0043224 multi-infarct dementia oio:hasExactSynonym multi-infarct dementia multi-infarct dementia Multi-Infarct Dementia NCIT:C34522 Multi-Infarct Dementia confirmed multi-infarct dementia NCIT:C34522 NCIT MONDO:0043233 exfoliative dermatitis oio:hasExactSynonym exfoliative dermatitis exfoliative dermatitis Exfoliative Dermatitis NCIT:C39646 Erythroderma confirmed exfoliative dermatitis NCIT:C39646 NCIT @@ -102503,8 +102503,8 @@ MONDO:0043310 amaurosis fugax oio:hasExactSynonym amaurosis fugax amaurosis fug MONDO:0043320 piriformis syndrome oio:hasExactSynonym piriformis muscle syndrome piriformis muscle syndrome Piriformis Muscle Syndrome NCIT:C85012 Piriformis Muscle Syndrome confirmed piriformis muscle syndrome NCIT:C85012 NCIT MONDO:0043320 piriformis syndrome oio:hasExactSynonym piriformis syndrome piriformis syndrome Piriformis Syndrome NCIT:C85012 Piriformis Muscle Syndrome confirmed piriformis syndrome NCIT:C85012 NCIT MONDO:0043346 progressive transformation of germinal centers oio:hasExactSynonym progressive transformation of Germinal centers progressive transformation of Germinal centers Progressive Transformation of Germinal Centers NCIT:C38408 Progressive Transformation of Germinal Centers confirmed progressive transformation of Germinal centers NCIT:C38408 NCIT -MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion Masson lesion Masson Lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson lesion NCIT:C4391 NCIT MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson lesion NCIT:C4391 NCIT +MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson lesion Masson lesion Masson Lesion NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson lesion NCIT:C4391 NCIT MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson pseudotumor Masson pseudotumor Masson Pseudotumor NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson pseudotumor NCIT:C4391 NCIT MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson's pseudosarcoma Masson's pseudosarcoma Masson's Pseudosarcoma NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson's pseudosarcoma NCIT:C4391 NCIT MONDO:0043349 intravascular papillary endothelial hyperplasia oio:hasExactSynonym Masson's pseudotumor Masson's pseudotumor Masson's Pseudotumor NCIT:C4391 Intravascular Papillary Endothelial Hyperplasia confirmed Masson's pseudotumor NCIT:C4391 NCIT @@ -102731,8 +102731,8 @@ MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasEx MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym Mixed hepatocellular cholangiocarcinoma Mixed hepatocellular cholangiocarcinoma Mixed Hepatocellular Cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed Mixed hepatocellular cholangiocarcinoma NCIT:C3828 NCIT MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym carcinoma of the liver and intrahepatic biliary tract carcinoma of the liver and intrahepatic biliary tract Carcinoma of the Liver and Intrahepatic Biliary Tract NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed carcinoma of the liver and intrahepatic biliary tract NCIT:C3828 NCIT MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) Combined Hepatocellular Cancer and Intrahepatic Bile Duct Cancer (Cholangiocarcinoma) NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma) NCIT:C3828 NCIT -MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 NCIT MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 NCIT +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma oio:hasExactSynonym combined hepatocellular carcinoma and cholangiocarcinoma combined hepatocellular carcinoma and cholangiocarcinoma Combined Hepatocellular Carcinoma and Cholangiocarcinoma NCIT:C3828 Combined Hepatocellular Carcinoma and Cholangiocarcinoma confirmed combined hepatocellular carcinoma and cholangiocarcinoma NCIT:C3828 NCIT MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevi congenital melanocytic nevi Congenital Melanocytic Nevi NCIT:C3944 Congenital Melanocytic Nevus confirmed congenital melanocytic nevi NCIT:C3944 NCIT MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevus congenital melanocytic nevus Congenital Melanocytic Nevus NCIT:C3944 Congenital Melanocytic Nevus confirmed congenital melanocytic nevus NCIT:C3944 NCIT MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym congenital melanocytic nevus of skin congenital melanocytic nevus of skin Congenital Melanocytic Nevus of Skin NCIT:C3944 Congenital Melanocytic Nevus confirmed congenital melanocytic nevus of skin NCIT:C3944 NCIT @@ -102750,8 +102750,8 @@ MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym giant cong MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym giant pigmented nevus of skin giant pigmented nevus of skin Giant Pigmented Nevus of Skin NCIT:C4234 Giant Congenital Melanocytic Nevus confirmed giant pigmented nevus of skin NCIT:C4234 NCIT MONDO:0044792 large congenital melanocytic nevus oio:hasExactSynonym giant pigmented nevus of the skin giant pigmented nevus of the skin Giant Pigmented Nevus of the Skin NCIT:C4234 Giant Congenital Melanocytic Nevus confirmed giant pigmented nevus of the skin NCIT:C4234 NCIT MONDO:0044793 spitz nevus oio:hasExactSynonym benign juvenile melanoma benign juvenile melanoma Benign Juvenile Melanoma NCIT:C27007 Spitz Nevus confirmed benign juvenile melanoma NCIT:C27007 NCIT -MONDO:0044793 spitz nevus oio:hasExactSynonym juvenile nevus juvenile nevus Juvenile nevus NCIT:C27007 Spitz Nevus confirmed juvenile nevus NCIT:C27007 NCIT MONDO:0044793 spitz nevus oio:hasExactSynonym juvenile nevus juvenile nevus Juvenile Nevus NCIT:C27007 Spitz Nevus confirmed juvenile nevus NCIT:C27007 NCIT +MONDO:0044793 spitz nevus oio:hasExactSynonym juvenile nevus juvenile nevus Juvenile nevus NCIT:C27007 Spitz Nevus confirmed juvenile nevus NCIT:C27007 NCIT MONDO:0044793 spitz nevus oio:hasExactSynonym spindle and/ or epithelioid cell Nevus spindle and/ or epithelioid cell Nevus Spindle and/ or Epithelioid Cell Nevus NCIT:C27007 Spitz Nevus confirmed spindle and/ or epithelioid cell Nevus NCIT:C27007 NCIT MONDO:0044793 spitz nevus oio:hasExactSynonym spitz nevus spitz nevus Spitz Nevus NCIT:C27007 Spitz Nevus confirmed spitz nevus NCIT:C27007 NCIT MONDO:0044793 spitz nevus oio:hasExactSynonym spitz nevus spitz nevus Spitz nevus NCIT:C27007 Spitz Nevus confirmed spitz nevus NCIT:C27007 NCIT @@ -102773,8 +102773,8 @@ MONDO:0044817 acquired idiopathic torsion dystonia oio:hasExactSynonym non-Fami MONDO:0044872 dysautonomia oio:hasExactSynonym dysautonomia dysautonomia Dysautonomia NCIT:C53439 Dysautonomia confirmed dysautonomia NCIT:C53439 NCIT MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym childhood MDS childhood MDS Childhood MDS NCIT:C68744 Childhood Myelodysplastic Syndrome confirmed childhood MDS NCIT:C68744 NCIT MONDO:0044873 childhood myelodysplastic syndrome oio:hasExactSynonym childhood myelodysplastic syndrome childhood myelodysplastic syndrome Childhood Myelodysplastic Syndrome NCIT:C68744 Childhood Myelodysplastic Syndrome confirmed childhood myelodysplastic syndrome NCIT:C68744 NCIT -MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory Cytopenia of Childhood NCIT:C82596 Refractory Cytopenia of Childhood confirmed refractory cytopenia of childhood NCIT:C82596 NCIT MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory cytopenia of childhood NCIT:C82596 Refractory Cytopenia of Childhood confirmed refractory cytopenia of childhood NCIT:C82596 NCIT +MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym refractory cytopenia of childhood refractory cytopenia of childhood Refractory Cytopenia of Childhood NCIT:C82596 Refractory Cytopenia of Childhood confirmed refractory cytopenia of childhood NCIT:C82596 NCIT MONDO:0044874 refractory cytopenia of childhood oio:hasExactSynonym RCC NCIT:C82596 Refractory Cytopenia of Childhood http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed RCC NCIT:C82596 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym coronary microvascular disease coronary microvascular disease Coronary Microvascular Disease NCIT:C84478 Coronary Microvascular Disease confirmed coronary microvascular disease NCIT:C84478 NCIT MONDO:0044875 coronary microvascular disorder oio:hasExactSynonym CMD NCIT:C84478 Coronary Microvascular Disease http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION confirmed CMD NCIT:C84478 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -102841,8 +102841,8 @@ MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T-Lymphoblastic lymp MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym T-lymphoblastic lymphoma T-lymphoblastic lymphoma T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed T-lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T Lymphoblastic lymphoma precursor T Lymphoblastic lymphoma Precursor T Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T Lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-Lymphoblastic lymphoma precursor T-Lymphoblastic lymphoma Precursor T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-Lymphoblastic lymphoma NCIT:C6919 NCIT -MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-cell lymphoblastic lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-cell Lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-Cell Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-cell Lymphoblastic lymphoma NCIT:C6919 NCIT +MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-cell Lymphoblastic lymphoma precursor T-cell Lymphoblastic lymphoma Precursor T-cell lymphoblastic lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-cell Lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0044917 T-lymphoblastic lymphoma oio:hasExactSynonym precursor T-lymphoblastic lymphoma precursor T-lymphoblastic lymphoma Precursor T-Lymphoblastic Lymphoma NCIT:C6919 T Lymphoblastic Lymphoma confirmed precursor T-lymphoblastic lymphoma NCIT:C6919 NCIT MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant neoplasm of renal pelvis malignant neoplasm of renal pelvis Malignant Neoplasm of Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm confirmed malignant neoplasm of renal pelvis NCIT:C7525 NCIT MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant neoplasm of the renal pelvis malignant neoplasm of the renal pelvis Malignant Neoplasm of the Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm confirmed malignant neoplasm of the renal pelvis NCIT:C7525 NCIT @@ -102852,12 +102852,12 @@ MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant tum MONDO:0044919 malignant renal pelvis neoplasm oio:hasExactSynonym malignant tumor of the renal pelvis malignant tumor of the renal pelvis Malignant Tumor of the Renal Pelvis NCIT:C7525 Malignant Renal Pelvis Neoplasm confirmed malignant tumor of the renal pelvis NCIT:C7525 NCIT MONDO:0044921 atypical lymphoproliferative disorder oio:hasExactSynonym atypical lymphoid hyperplasia atypical lymphoid hyperplasia Atypical Lymphoid Hyperplasia NCIT:C7764 Atypical Lymphoproliferative Disorder confirmed atypical lymphoid hyperplasia NCIT:C7764 NCIT MONDO:0044921 atypical lymphoproliferative disorder oio:hasExactSynonym atypical lymphoproliferative disorder atypical lymphoproliferative disorder Atypical Lymphoproliferative Disorder NCIT:C7764 Atypical Lymphoproliferative Disorder confirmed atypical lymphoproliferative disorder NCIT:C7764 NCIT -MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed AML with mutated NPM1 NCIT:C82431 NCIT MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 AML with mutated NPM1 AML with Mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed AML with mutated NPM1 NCIT:C82431 NCIT +MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym AML with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed AML with mutated NPM1 NCIT:C82431 NCIT MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym NPMc+ AML NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed NPMc+ AML NCIT:C82431 NCIT MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with cytoplasmic nucleophosmin acute myeloid leukemia with cytoplasmic nucleophosmin Acute Myeloid Leukemia with Cytoplasmic Nucleophosmin NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed acute myeloid leukemia with cytoplasmic nucleophosmin NCIT:C82431 NCIT -MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with mutated NPM1 acute myeloid leukemia with mutated NPM1 Acute myeloid leukemia with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed acute myeloid leukemia with mutated NPM1 NCIT:C82431 NCIT MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with mutated NPM1 acute myeloid leukemia with mutated NPM1 Acute Myeloid Leukemia with Mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed acute myeloid leukemia with mutated NPM1 NCIT:C82431 NCIT +MONDO:0044923 acute myeloid leukemia with mutated NPM1 oio:hasExactSynonym acute myeloid leukemia with mutated NPM1 acute myeloid leukemia with mutated NPM1 Acute myeloid leukemia with mutated NPM1 NCIT:C82431 Acute Myeloid Leukemia with NPM1 Mutation confirmed acute myeloid leukemia with mutated NPM1 NCIT:C82431 NCIT MONDO:0044925 oral cavity carcinoma oio:hasExactSynonym carcinoma of mouth carcinoma of mouth Carcinoma of Mouth NCIT:C8990 Oral Cavity Carcinoma confirmed carcinoma of mouth NCIT:C8990 NCIT MONDO:0044925 oral cavity carcinoma oio:hasExactSynonym carcinoma of oral cavity carcinoma of oral cavity Carcinoma of Oral Cavity NCIT:C8990 Oral Cavity Carcinoma confirmed carcinoma of oral cavity NCIT:C8990 NCIT MONDO:0044925 oral cavity carcinoma oio:hasExactSynonym carcinoma of the oral cavity carcinoma of the oral cavity Carcinoma of the Oral Cavity NCIT:C8990 Oral Cavity Carcinoma confirmed carcinoma of the oral cavity NCIT:C8990 NCIT @@ -103050,8 +103050,8 @@ MONDO:0100316 long QT syndrome 1 oio:hasExactSynonym LQT1 NCIT:C85049 Long QT MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich's Ataxia NCIT:C84718 Friedreich Ataxia confirmed Friedreich's Ataxia NCIT:C84718 NCIT MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich's ataxia Friedreich's ataxia Friedreich's Ataxia NCIT:C84718 Friedreich Ataxia confirmed Friedreich's ataxia NCIT:C84718 NCIT MONDO:0100339 Friedreich ataxia oio:hasExactSynonym Friedreich ataxia Friedreich ataxia Friedreich Ataxia NCIT:C84718 Friedreich Ataxia http://purl.obolibrary.org/obo/mondo#CLINGEN_LABEL confirmed Friedreich ataxia NCIT:C84718 NCIT -MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant Glioma, malignant NCIT:C4822 Malignant Glioma confirmed glioma, malignant NCIT:C4822 NCIT MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant GLIOMA, MALIGNANT NCIT:C4822 Malignant Glioma confirmed glioma, malignant NCIT:C4822 NCIT +MONDO:0100342 malignant glioma oio:hasExactSynonym glioma, malignant glioma, malignant Glioma, malignant NCIT:C4822 Malignant Glioma confirmed glioma, malignant NCIT:C4822 NCIT MONDO:0100342 malignant glioma oio:hasExactSynonym high grade glioma high grade glioma High Grade Glioma NCIT:C4822 Malignant Glioma confirmed high grade glioma NCIT:C4822 NCIT MONDO:0100342 malignant glioma oio:hasExactSynonym high-grade glioma high-grade glioma High-Grade Glioma NCIT:C4822 Malignant Glioma confirmed high-grade glioma NCIT:C4822 NCIT MONDO:0100342 malignant glioma oio:hasExactSynonym malignant glial neoplasm malignant glial neoplasm Malignant Glial Neoplasm NCIT:C4822 Malignant Glioma confirmed malignant glial neoplasm NCIT:C4822 NCIT @@ -103209,11 +103209,11 @@ MONDO:0002794 adult medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medu MONDO:0002797 childhood medulloblastoma oio:hasExactSynonym oio:hasBroadSynonym medulloblastoma medulloblastoma Medulloblastoma NCIT:C3997 Childhood Medulloblastoma updated medulloblastoma NCIT:C3997 NCIT MONDO:0002803 intestinal pseudo-obstruction oio:hasExactSynonym oio:hasRelatedSynonym intestinal pseudoobstruction intestinal pseudoobstruction Intestinal Pseudoobstruction NCIT:C34733 Intestinal Pseudo-Obstruction GARD:0006789 updated intestinal pseudoobstruction NCIT:C34733 NCIT MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym acrospiroma acrospiroma Acrospiroma NCIT:C7563 Hidradenoma updated acrospiroma NCIT:C7563 NCIT -MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma eccrine acrospiroma Eccrine Acrospiroma NCIT:C7563 Hidradenoma updated eccrine acrospiroma NCIT:C7563 NCIT MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma eccrine acrospiroma Eccrine acrospiroma NCIT:C7563 Hidradenoma updated eccrine acrospiroma NCIT:C7563 NCIT +MONDO:0002805 hidradenoma oio:hasExactSynonym oio:hasRelatedSynonym eccrine acrospiroma eccrine acrospiroma Eccrine Acrospiroma NCIT:C7563 Hidradenoma updated eccrine acrospiroma NCIT:C7563 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Ringertz carcinoma Ringertz carcinoma Ringertz Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma updated Ringertz carcinoma NCIT:C54287 NCIT -MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma updated Schneiderian carcinoma NCIT:C54287 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma Schneiderian carcinoma Schneiderian Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma updated Schneiderian carcinoma NCIT:C54287 NCIT +MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Schneiderian carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma updated Schneiderian carcinoma NCIT:C54287 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal Schneiderian carcinoma Sinonasal Schneiderian carcinoma Sinonasal Schneiderian Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma updated Sinonasal Schneiderian carcinoma NCIT:C54287 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal cylindrical cell carcinoma Sinonasal cylindrical cell carcinoma Sinonasal Cylindrical Cell Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma updated Sinonasal cylindrical cell carcinoma NCIT:C54287 NCIT MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma oio:hasExactSynonym oio:hasRelatedSynonym Sinonasal transitional cell carcinoma Sinonasal transitional cell carcinoma Sinonasal Transitional Cell Carcinoma NCIT:C54287 Sinonasal Non-Keratinizing Squamous Cell Carcinoma updated Sinonasal transitional cell carcinoma NCIT:C54287 NCIT @@ -103308,8 +103308,8 @@ MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym h MONDO:0003413 hair follicle neoplasm oio:hasExactSynonym oio:hasRelatedSynonym hair matrix tumor hair matrix tumor Hair Matrix Tumor NCIT:C7367 Hair Follicle Neoplasm updated hair matrix tumor NCIT:C7367 NCIT MONDO:0003444 intrahepatic bile duct adenoma oio:hasExactSynonym oio:hasRelatedSynonym adenoma of intrahepatic bile duct adenoma of intrahepatic bile duct Adenoma of Intrahepatic Bile Duct NCIT:C7126 Intrahepatic Bile Duct Adenoma DOID:5437 updated adenoma of intrahepatic bile duct NCIT:C7126 NCIT MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym benign eccrine spiradenoma benign eccrine spiradenoma Benign Eccrine Spiradenoma NCIT:C4170 Spiradenoma updated benign eccrine spiradenoma NCIT:C4170 NCIT -MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine spiradenoma NCIT:C4170 Spiradenoma updated eccrine spiradenoma NCIT:C4170 NCIT MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine Spiradenoma NCIT:C4170 Spiradenoma updated eccrine spiradenoma NCIT:C4170 NCIT +MONDO:0003448 benign spiradenoma oio:hasExactSynonym oio:hasNarrowSynonym eccrine spiradenoma eccrine spiradenoma Eccrine spiradenoma NCIT:C4170 Spiradenoma updated eccrine spiradenoma NCIT:C4170 NCIT MONDO:0003458 uterine corpus adenofibroma oio:hasExactSynonym oio:hasRelatedSynonym adenofibroma of uterine corpus adenofibroma of uterine corpus Adenofibroma of Uterine Corpus NCIT:C6337 Uterine Corpus Adenofibroma DOID:5475 updated adenofibroma of uterine corpus NCIT:C6337 NCIT MONDO:0003478 childhood ependymoma oio:hasExactSynonym oio:hasBroadSynonym ependymoma ependymoma Ependymoma NCIT:C8578 Childhood Ependymoma updated ependymoma NCIT:C8578 NCIT MONDO:0003481 dysgerminoma of ovary oio:hasExactSynonym oio:hasRelatedSynonym dysgerminoma dysgerminoma Dysgerminoma NCIT:C8106 Ovarian Dysgerminoma ONCOTREE:ODYS updated dysgerminoma NCIT:C8106 NCIT @@ -103485,8 +103485,8 @@ MONDO:0004521 adult epithelioid sarcoma oio:hasExactSynonym oio:hasBroadSynonym MONDO:0004545 adult malignant schwannoma oio:hasExactSynonym oio:hasBroadSynonym malignant peripheral nerve sheath tumor malignant peripheral nerve sheath tumor Malignant Peripheral Nerve Sheath Tumor NCIT:C7814 Adult Malignant Peripheral Nerve Sheath Tumor updated malignant peripheral nerve sheath tumor NCIT:C7814 NCIT MONDO:0004551 Meckel diverticulitis oio:hasExactSynonym oio:hasRelatedSynonym Meckel's diverticulitis Meckel's diverticulitis Meckel's Diverticulitis NCIT:C27300 Meckel Diverticulitis updated Meckel's diverticulitis NCIT:C27300 NCIT MONDO:0004557 congenital fibrosarcoma oio:hasExactSynonym oio:hasRelatedSynonym IFS NCIT:C4244 Infantile Fibrosarcoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:IFS updated IFS NCIT:C4244 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT -MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid adenoma colloid adenoma Colloid Adenoma NCIT:C4161 Thyroid Gland Macrofollicular Adenoma updated colloid adenoma NCIT:C4161 NCIT MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid adenoma colloid adenoma Colloid adenoma NCIT:C4161 Thyroid Gland Macrofollicular Adenoma updated colloid adenoma NCIT:C4161 NCIT +MONDO:0004558 thyroid gland macrofollicular adenoma oio:hasExactSynonym oio:hasRelatedSynonym colloid adenoma colloid adenoma Colloid Adenoma NCIT:C4161 Thyroid Gland Macrofollicular Adenoma updated colloid adenoma NCIT:C4161 NCIT MONDO:0004574 pyridoxine deficiency anemia oio:hasExactSynonym oio:hasRelatedSynonym pyridoxine deficiency pyridoxine deficiency Pyridoxine Deficiency NCIT:C85221 Vitamin B6 Deficiency MESH:D026681 updated pyridoxine deficiency NCIT:C85221 NCIT MONDO:0004574 pyridoxine deficiency anemia oio:hasExactSynonym oio:hasRelatedSynonym vitamin B6 deficiency vitamin B6 deficiency Vitamin B6 Deficiency NCIT:C85221 Vitamin B6 Deficiency MESH:D026681, GARD:0004616 updated vitamin B6 deficiency NCIT:C85221 NCIT MONDO:0004597 pulmonary embolism and infarction oio:hasExactSynonym oio:hasRelatedSynonym pulmonary infarction pulmonary infarction Pulmonary Infarction NCIT:C50714 Pulmonary Infarction updated pulmonary infarction NCIT:C50714 NCIT @@ -103533,8 +103533,8 @@ MONDO:0005004 clear cell adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynony MONDO:0005005 clear cell renal carcinoma oio:hasExactSynonym oio:hasRelatedSynonym hypernephroma hypernephroma Hypernephroma NCIT:C4033 Clear Cell Renal Cell Carcinoma http://purl.obolibrary.org/obo/mondo#DEPRECATED updated hypernephroma NCIT:C4033 NCIT MONDO:0005021 dilated cardiomyopathy oio:hasExactSynonym oio:hasRelatedSynonym congestive cardiomyopathy congestive cardiomyopathy Congestive Cardiomyopathy NCIT:C84673 Dilated Cardiomyopathy DOID:12930 updated congestive cardiomyopathy NCIT:C84673 NCIT MONDO:0005023 ductal breast carcinoma in situ oio:hasExactSynonym oio:hasRelatedSynonym breast ductal carcinoma in situ breast ductal carcinoma in situ Breast Ductal Carcinoma In Situ NCIT:C2924 Breast Ductal Carcinoma In Situ ONCOTREE:DCIS updated breast ductal carcinoma in situ NCIT:C2924 NCIT -MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic thrombocythemia NCIT:C3407 Essential Thrombocythemia GARD:0006594 updated idiopathic thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic Thrombocythemia NCIT:C3407 Essential Thrombocythemia GARD:0006594 updated idiopathic thrombocythemia NCIT:C3407 NCIT +MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasNarrowSynonym idiopathic thrombocythemia idiopathic thrombocythemia Idiopathic thrombocythemia NCIT:C3407 Essential Thrombocythemia GARD:0006594 updated idiopathic thrombocythemia NCIT:C3407 NCIT MONDO:0005029 essential thrombocythemia oio:hasExactSynonym oio:hasBroadSynonym ET NCIT:C3407 Essential Thrombocythemia http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION updated ET NCIT:C3407 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma follicular adenocarcinoma Follicular Adenocarcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma updated follicular adenocarcinoma NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasNarrowSynonym follicular adenocarcinoma, well differentiated follicular adenocarcinoma, well differentiated Follicular adenocarcinoma, well differentiated NCIT:C8054 Thyroid Gland Follicular Carcinoma updated follicular adenocarcinoma, well differentiated NCIT:C8054 NCIT @@ -103543,8 +103543,8 @@ MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroa MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of thyroid follicular cancer of thyroid Follicular Cancer of Thyroid NCIT:C8054 Thyroid Gland Follicular Carcinoma updated follicular cancer of thyroid NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym follicular cancer of thyroid gland follicular cancer of thyroid gland Follicular Cancer of Thyroid Gland NCIT:C8054 Thyroid Gland Follicular Carcinoma updated follicular cancer of thyroid gland NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym thyroid gland follicular cancer thyroid gland follicular cancer Thyroid Gland Follicular Cancer NCIT:C8054 Thyroid Gland Follicular Carcinoma updated thyroid gland follicular cancer NCIT:C8054 NCIT -MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-Differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma updated well-differentiated follicular carcinoma NCIT:C8054 NCIT MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma updated well-differentiated follicular carcinoma NCIT:C8054 NCIT +MONDO:0005034 thyroid gland follicular carcinoma oio:hasExactSynonym oio:hasBroadSynonym well-differentiated follicular carcinoma well-differentiated follicular carcinoma Well-Differentiated Follicular Carcinoma NCIT:C8054 Thyroid Gland Follicular Carcinoma updated well-differentiated follicular carcinoma NCIT:C8054 NCIT MONDO:0005036 gastric adenocarcinoma oio:hasExactSynonym oio:hasRelatedSynonym STAD NCIT:C4004 Gastric Adenocarcinoma http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION ONCOTREE:STAD updated STAD NCIT:C4004 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasRelatedSynonym hypertension hypertension Hypertension NCIT:C3117 Hypertension updated hypertension NCIT:C3117 NCIT MONDO:0005044 hypertensive disorder oio:hasExactSynonym oio:hasBroadSynonym HTN NCIT:C3117 Hypertension http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION updated HTN NCIT:C3117 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT @@ -103577,8 +103577,8 @@ MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym cancer MONDO:0005159 prostate carcinoma oio:hasExactSynonym oio:hasNarrowSynonym prostate cancer prostate cancer Prostate Cancer NCIT:C4863 Prostate Carcinoma updated prostate cancer NCIT:C4863 NCIT MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign tumor benign tumor Benign Tumor NCIT:C3677 Benign Neoplasm updated benign tumor NCIT:C3677 NCIT MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym benign unclassifiable tumor benign unclassifiable tumor Benign Unclassifiable Tumor NCIT:C3677 Benign Neoplasm updated benign unclassifiable tumor NCIT:C3677 NCIT -MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign NEOPLASM, BENIGN NCIT:C3677 Benign Neoplasm updated neoplasm, benign NCIT:C3677 NCIT MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign Neoplasm, benign NCIT:C3677 Benign Neoplasm updated neoplasm, benign NCIT:C3677 NCIT +MONDO:0005165 benign neoplasm oio:hasExactSynonym oio:hasRelatedSynonym neoplasm, benign neoplasm, benign NEOPLASM, BENIGN NCIT:C3677 Benign Neoplasm updated neoplasm, benign NCIT:C3677 NCIT MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile hyperkeratosis Senile hyperkeratosis Senile Hyperkeratosis NCIT:C3148 Actinic Keratosis updated Senile hyperkeratosis NCIT:C3148 NCIT MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym Senile keratosis Senile keratosis Senile Keratosis NCIT:C3148 Actinic Keratosis updated Senile keratosis NCIT:C3148 NCIT MONDO:0005173 actinic keratosis oio:hasExactSynonym oio:hasRelatedSynonym senile keratosis senile keratosis Senile Keratosis NCIT:C3148 Actinic Keratosis updated senile keratosis NCIT:C3148 NCIT @@ -103641,8 +103641,8 @@ MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym muscu MONDO:0005554 rheumatic disorder oio:hasExactSynonym oio:hasRelatedSynonym rheumatism rheumatism Rheumatism NCIT:C27204 Rheumatologic Disorder MESH:D012216 updated rheumatism NCIT:C27204 NCIT MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct adenocarcinoma duct adenocarcinoma Duct Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma updated duct adenocarcinoma NCIT:C4017 NCIT MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym duct carcinoma duct carcinoma Duct Carcinoma NCIT:C4017 Breast Ductal Carcinoma updated duct carcinoma NCIT:C4017 NCIT -MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma updated ductal adenocarcinoma NCIT:C4017 NCIT MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal Adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma updated ductal adenocarcinoma NCIT:C4017 NCIT +MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal adenocarcinoma ductal adenocarcinoma Ductal adenocarcinoma NCIT:C4017 Breast Ductal Carcinoma updated ductal adenocarcinoma NCIT:C4017 NCIT MONDO:0005590 breast ductal adenocarcinoma oio:hasExactSynonym oio:hasBroadSynonym ductal carcinoma ductal carcinoma Ductal Carcinoma NCIT:C4017 Breast Ductal Carcinoma updated ductal carcinoma NCIT:C4017 NCIT MONDO:0005618 anxiety disorder oio:hasExactSynonym oio:hasBroadSynonym anxiety anxiety Anxiety NCIT:C2878 Anxiety Disorder updated anxiety NCIT:C2878 NCIT MONDO:0005649 appendicitis oio:hasExactSynonym oio:hasNarrowSynonym acute appendicitis acute appendicitis Acute Appendicitis NCIT:C35145 Appendicitis updated acute appendicitis NCIT:C35145 NCIT @@ -103735,8 +103735,8 @@ MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym hem MONDO:0006375 placental hemangioma oio:hasExactSynonym oio:hasRelatedSynonym placental angioma placental angioma Placental Angioma NCIT:C4868 Placental Hemangioma updated placental angioma NCIT:C4868 NCIT MONDO:0006481 ureter carcinoma oio:hasExactSynonym oio:hasBroadSynonym ureter cancer ureter cancer Ureter Cancer NCIT:C8993 Ureter Carcinoma updated ureter cancer NCIT:C8993 NCIT MONDO:0006488 vaginal carcinosarcoma oio:hasExactSynonym oio:hasRelatedSynonym vaginal malignant mixed mesodermal (Mullerian) tumor vaginal malignant mixed mesodermal (Mullerian) tumor Vaginal Malignant Mixed Mesodermal (Mullerian) Tumor NCIT:C40278 Vaginal Carcinosarcoma updated vaginal malignant mixed mesodermal (Mullerian) tumor NCIT:C40278 NCIT -MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary cystadenoma lymphomatosum NCIT:C2854 Warthin Tumor updated papillary cystadenoma lymphomatosum NCIT:C2854 NCIT MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary Cystadenoma Lymphomatosum NCIT:C2854 Warthin Tumor updated papillary cystadenoma lymphomatosum NCIT:C2854 NCIT +MONDO:0006493 Warthin tumor oio:hasExactSynonym oio:hasRelatedSynonym papillary cystadenoma lymphomatosum papillary cystadenoma lymphomatosum Papillary cystadenoma lymphomatosum NCIT:C2854 Warthin Tumor updated papillary cystadenoma lymphomatosum NCIT:C2854 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym oio:hasRelatedSynonym angioma angioma Angioma NCIT:C3085 Hemangioma updated angioma NCIT:C3085 NCIT MONDO:0006500 hemangioma oio:hasExactSynonym oio:hasRelatedSynonym benign angioma benign angioma Benign Angioma NCIT:C3085 Hemangioma updated benign angioma NCIT:C3085 NCIT MONDO:0006517 childhood malignant neoplasm oio:hasExactSynonym oio:hasNarrowSynonym malignant neoplasm malignant neoplasm Malignant Neoplasm NCIT:C4005 Childhood Malignant Neoplasm updated malignant neoplasm NCIT:C4005 NCIT @@ -103853,8 +103853,8 @@ MONDO:0008458 spinocerebellar ataxia type 2 oio:hasExactSynonym oio:hasRelatedSy MONDO:0008464 split hand-foot malformation 1 oio:hasExactSynonym oio:hasRelatedSynonym split-hand/foot malformation 1 split-hand/foot malformation 1 Split-Hand/Foot Malformation 1 NCIT:C75045 Split-Hand/Foot Malformation Type 1 MONDO:Lexical updated split-hand/foot malformation 1 NCIT:C75045 NCIT MONDO:0008491 stiff-person syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF-PERSON syndrome STIFF-PERSON syndrome Stiff-Person Syndrome NCIT:C85170 Stiff Person Syndrome updated STIFF-PERSON syndrome NCIT:C85170 NCIT MONDO:0008492 stiff skin syndrome oio:hasExactSynonym oio:hasRelatedSynonym STIFF skin syndrome STIFF skin syndrome Stiff Skin Syndrome NCIT:C118636 Stiff Skin Syndrome updated STIFF skin syndrome NCIT:C118636 NCIT -MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot updated tetralogy of FALLOT NCIT:C84505 NCIT MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT Tetralogy of Fallot NCIT:C84505 Tetralogy of Fallot updated tetralogy of FALLOT NCIT:C84505 NCIT +MONDO:0008542 tetralogy of fallot oio:hasExactSynonym oio:hasRelatedSynonym tetralogy of FALLOT tetralogy of FALLOT TETRALOGY OF FALLOT NCIT:C84505 Tetralogy of Fallot updated tetralogy of FALLOT NCIT:C84505 NCIT MONDO:0008555 thrombocytopenia 2 oio:hasExactSynonym oio:hasRelatedSynonym THC2 NCIT:C129035 Thrombocytopenia 2 http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical updated THC2 NCIT:C129035 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasBroadSynonym immune thrombocytopenia immune thrombocytopenia Immune Thrombocytopenia NCIT:C3446 Primary Immune Thrombocytopenia updated immune thrombocytopenia NCIT:C3446 NCIT MONDO:0008558 autoimmune thrombocytopenic purpura oio:hasExactSynonym oio:hasRelatedSynonym immune thrombocytopenic purpura immune thrombocytopenic purpura Immune Thrombocytopenic Purpura NCIT:C3446 Primary Immune Thrombocytopenia updated immune thrombocytopenic purpura NCIT:C3446 NCIT @@ -103960,8 +103960,8 @@ MONDO:0009436 congenital hypothalamic hamartoma syndrome oio:hasExactSynonym oio MONDO:0009452 Vici syndrome oio:hasExactSynonym oio:hasRelatedSynonym VICIS NCIT:C138174 Vici Syndrome http://purl.obolibrary.org/obo/mondo#ABBREVIATION http://purl.obolibrary.org/obo/mondo#ABBREVIATION MONDO:Lexical updated VICIS NCIT:C138174 http://purl.obolibrary.org/obo/mondo#ABBREVIATION NCIT MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Schimke IMMUNOOSSEOUS dysplasia Schimke IMMUNOOSSEOUS dysplasia Schimke Immunoosseous Dysplasia NCIT:C135087 Schimke Immunoosseous Dysplasia updated Schimke IMMUNOOSSEOUS dysplasia NCIT:C135087 NCIT MONDO:0009458 Schimke immuno-osseous dysplasia oio:hasExactSynonym oio:hasRelatedSynonym Schimke Immunoosseous dysplasia Schimke Immunoosseous dysplasia Schimke Immunoosseous Dysplasia NCIT:C135087 Schimke Immunoosseous Dysplasia updated Schimke Immunoosseous dysplasia NCIT:C135087 NCIT -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 updated DOCK8 deficiency NCIT:C126343 NCIT MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency DOCK8 deficiency DOCK8 Deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 updated DOCK8 deficiency NCIT:C126343 NCIT +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym DOCK8 deficiency NCIT:C126343 DOCK8 Deficiency GARD:0002816 updated DOCK8 deficiency NCIT:C126343 NCIT MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency oio:hasExactSynonym oio:hasRelatedSynonym autosomal recessive hyper IgE syndrome autosomal recessive hyper IgE syndrome Autosomal Recessive hyper IgE syndrome NCIT:C126343 DOCK8 Deficiency GARD:0002816 updated autosomal recessive hyper IgE syndrome NCIT:C126343 NCIT MONDO:0009490 Papillon-Lefevre disease oio:hasExactSynonym oio:hasRelatedSynonym PAPILLON-Lefevre syndrome PAPILLON-Lefevre syndrome Papillon-Lefevre Syndrome NCIT:C84992 Papillon-Lefevre Syndrome MONDO:Lexical updated PAPILLON-Lefevre syndrome NCIT:C84992 NCIT MONDO:0009499 Krabbe disease oio:hasExactSynonym oio:hasRelatedSynonym galactosylceramide Beta-galactosidase deficiency galactosylceramide Beta-galactosidase deficiency Galactosylceramide Beta-Galactosidase Deficiency NCIT:C61254 Krabbe Disease updated galactosylceramide Beta-galactosidase deficiency NCIT:C61254 NCIT @@ -104344,8 +104344,8 @@ MONDO:0016985 nevus of Ito oio:hasExactSynonym oio:hasRelatedSynonym hypomelanos MONDO:0016990 acquired prothrombin deficiency oio:hasExactSynonym oio:hasRelatedSynonym acquired factor II deficiency acquired factor II deficiency Acquired Factor II Deficiency NCIT:C131622 Acquired Factor II Deficiency GARD:0000475 updated acquired factor II deficiency NCIT:C131622 NCIT MONDO:0017025 Langerhans cell histiocytosis specific to childhood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114483 Childhood Langerhans Cell Histiocytosis updated Langerhans cell histiocytosis NCIT:C114483 NCIT MONDO:0017029 Langerhans cell histiocytosis specific to adulthood oio:hasExactSynonym oio:hasBroadSynonym Langerhans cell histiocytosis Langerhans cell histiocytosis Langerhans Cell Histiocytosis NCIT:C114929 Adult Langerhans Cell Histiocytosis updated Langerhans cell histiocytosis NCIT:C114929 NCIT -MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic Nephroma NCIT:C6569 Congenital Mesoblastic Nephroma updated mesoblastic nephroma NCIT:C6569 NCIT MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic nephroma NCIT:C6569 Congenital Mesoblastic Nephroma updated mesoblastic nephroma NCIT:C6569 NCIT +MONDO:0017043 congenital mesoblastic nephroma oio:hasExactSynonym oio:hasBroadSynonym mesoblastic nephroma mesoblastic nephroma Mesoblastic Nephroma NCIT:C6569 Congenital Mesoblastic Nephroma updated mesoblastic nephroma NCIT:C6569 NCIT MONDO:0017069 spina bifida cystica oio:hasExactSynonym oio:hasNarrowSynonym myelomeningocele myelomeningocele Myelomeningocele NCIT:C101201 Myelomeningocele updated myelomeningocele NCIT:C101201 NCIT MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele Cranial Meningocele NCIT:C124517 Cranial Meningocele updated cranial meningocele NCIT:C124517 NCIT MONDO:0017079 meningoencephalocele oio:hasExactSynonym oio:hasRelatedSynonym cranial meningocele cranial meningocele CRANIAL MENINGOCELE NCIT:C124517 Cranial Meningocele updated cranial meningocele NCIT:C124517 NCIT @@ -104405,8 +104405,8 @@ MONDO:0018883 Berardinelli-Seip congenital lipodystrophy oio:hasExactSynonym oio MONDO:0018907 craniopharyngioma oio:hasExactSynonym oio:hasRelatedSynonym cystoma cystoma Cystoma NCIT:C2964 Craniopharyngioma updated cystoma NCIT:C2964 NCIT MONDO:0018912 Cushing syndrome oio:hasExactSynonym oio:hasBroadSynonym hypercortisolism hypercortisolism Hypercortisolism NCIT:C2969 Cushing Syndrome updated hypercortisolism NCIT:C2969 NCIT MONDO:0018965 Alport syndrome oio:hasExactSynonym oio:hasBroadSynonym hereditary nephritis hereditary nephritis Hereditary Nephritis NCIT:C34842 Alport Syndrome updated hereditary nephritis NCIT:C34842 NCIT -MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease Von Recklinghausen Disease NCIT:C3273 Neurofibromatosis Type 1 updated Von Recklinghausen disease NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease NCIT:C3273 Neurofibromatosis Type 1 updated Von Recklinghausen disease NCIT:C3273 NCIT +MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym Von Recklinghausen disease Von Recklinghausen disease Von Recklinghausen Disease NCIT:C3273 Neurofibromatosis Type 1 updated Von Recklinghausen disease NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis neurofibromatosis Neurofibromatosis NCIT:C3273 Neurofibromatosis Type 1 updated neurofibromatosis NCIT:C3273 NCIT MONDO:0018975 neurofibromatosis type 1 oio:hasExactSynonym oio:hasRelatedSynonym neurofibromatosis type 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis Type 1 Microdeletion Syndrome NCIT:C3273 Neurofibromatosis Type 1 updated neurofibromatosis type 1 microdeletion syndrome NCIT:C3273 NCIT MONDO:0019004 kidney Wilms tumor oio:hasExactSynonym oio:hasNarrowSynonym embryonal nephroma embryonal nephroma Embryonal Nephroma NCIT:C40407 Kidney Wilms Tumor updated embryonal nephroma NCIT:C40407 NCIT @@ -104536,8 +104536,8 @@ MONDO:0021165 Paget disease oio:hasExactSynonym oio:hasBroadSynonym Paget cell n MONDO:0021175 herpetic vulvovaginitis oio:hasExactSynonym oio:hasRelatedSynonym Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis updated Herpetic Vulvovaginitis NCIT:C34697 NCIT MONDO:0021175 herpetic vulvovaginitis oio:hasExactSynonym oio:hasRelatedSynonym Herpetic vulvovaginitis Herpetic vulvovaginitis Herpetic Vulvovaginitis NCIT:C34697 Herpetic Vulvovaginitis UMLS:C0019386 updated Herpetic vulvovaginitis NCIT:C34697 NCIT MONDO:0021190 DNA repair disease oio:hasExactSynonym oio:hasRelatedSynonym DNA repair deficiency DNA repair deficiency DNA Repair Deficiency NCIT:C7757 DNA Repair Disorder MESH:D049914 updated DNA repair deficiency NCIT:C7757 NCIT -MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar duct papillomatosis NCIT:C4192 Nipple Adenoma updated subareolar duct papillomatosis NCIT:C4192 NCIT MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar Duct Papillomatosis NCIT:C4192 Nipple Adenoma updated subareolar duct papillomatosis NCIT:C4192 NCIT +MONDO:0021301 adenoma of nipple oio:hasExactSynonym oio:hasRelatedSynonym subareolar duct papillomatosis subareolar duct papillomatosis Subareolar duct papillomatosis NCIT:C4192 Nipple Adenoma updated subareolar duct papillomatosis NCIT:C4192 NCIT MONDO:0021329 carcinoma of soft palate oio:hasExactSynonym oio:hasBroadSynonym soft palate cancer soft palate cancer Soft Palate Cancer NCIT:C8395 Soft Palate Carcinoma updated soft palate cancer NCIT:C8395 NCIT MONDO:0021331 carcinoma of parotid gland oio:hasExactSynonym oio:hasBroadSynonym parotid gland cancer parotid gland cancer Parotid Gland Cancer NCIT:C6791 Parotid Gland Carcinoma updated parotid gland cancer NCIT:C6791 NCIT MONDO:0021333 carcinoma of lip oio:hasExactSynonym oio:hasBroadSynonym lip cancer lip cancer Lip Cancer NCIT:C3490 Lip Carcinoma updated lip cancer NCIT:C3490 NCIT