diff --git a/mappings/mp_hp_mgi_all.sssom.tsv b/mappings/mp_hp_mgi_all.sssom.tsv index d2c7e81..f9f8872 100644 --- a/mappings/mp_hp_mgi_all.sssom.tsv +++ b/mappings/mp_hp_mgi_all.sssom.tsv @@ -1363,114 +1363,6 @@ HP:0010751 Dimple chin skos:narrowMatch 1 MP:0030243 abnormal chin morphology se HP:0200021 Down-sloping shoulders skos:relatedMatch 1 MP:0030816 abnormal shoulder joint morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE HP:0003048 Radial head subluxation skos:narrowMatch 1 MP:0030882 abnormal radius head morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE HP:0003022 Hypoplasia of the ulna skos:closeMatch 1 MP:0030900 decreased ulna size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE -HP:0001640 Cardiomegaly skos:exactMatch 1 MP:0000274 enlarged heart semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/26/2023 Down Syndrome -HP:0001697 Abnormal pericardium morphology skos:broadMatch 1 MP:0000291 enlarged pericardium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/26/2023 Down Syndrome -HP:0030681 Abnormal morphology of myocardial trabeculae skos:broadMatch 1 MP:0000295 trabecula carnea hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/26/2023 Down Syndrome -HP:0006695 Atrioventricular canal defect skos:relatedMatch 1 MP:0000299 failure of atrioventricular cushion closure semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/26/2023 Down Syndrome -HP:0011805 Abnormal skeletal muscle morphology skos:exactMatch 1 MP:0000759 abnormal skeletal muscle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/26/2023 Down Syndrome -HP:0006891 Thick cerebral cortex skos:exactMatch 0.9 MP:0000789 thickened cerebral cortex semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/26/2023 "Down Syndrome| mapping based on placement, EQ, and label as HPO term lacks definition" -HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0000812 abnormal dentate gyrus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/28/2023 Down Syndrome -HP:0030047 Abnormal lateral ventricle morphology skos:exactMatch 1 MP:0000823 abnormal lateral ventricle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/28/2023 Down Syndrome -HP:0010951 Abnormal third ventricle morphology skos:exactMatch 1 MP:0000826 abnormal third ventricle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/28/2023 Down Syndrome -HP:0010663 Abnormality of thalamus morphology skos:exactMatch 1 MP:0000832 abnormal thalamus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/28/2023 Down Syndrome -HP:0002538 Abnormal cerebral cortex morphology skos:broadMatch 1 MP:0000859 abnormal somatosensory cortex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/28/2023 Down Syndrome -HP:0010953 Noncommunicating hydrocephalus skos:exactMatch 1 MP:0000917 obstructive hydrocephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/28/2023 Down Syndrome -HP:0010824 Abnormal fifth cranial nerve morphology skos:exactMatch 1 MP:0001065 abnormal trigeminal nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/28/2023 Down Syndrome -HP:0031038 Spermatogenesis maturation arrest skos:closeMatch 0.9 MP:0001155 arrest of spermatogenesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/28/2023 Down Syndrome -HP:0008669 Abnormal spermatogenesis skos:exactMatch 1 MP:0001156 abnormal spermatogenesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0004324 Increased body weight skos:exactMatch 1 MP:0001260 increased body weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0100852 Abnormal fear/anxiety-related behavior skos:broadMatch 1 MP:0001364 decreased anxiety-related response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0100022 Abnormality of movement skos:broadMatch 1 MP:0001392 abnormal locomotor behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0000733 Abnormal repetitive mannerisms skos:relatedMatch 1 MP:0001409 increased stereotypic behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012433 Abnormal social behavior skos:broadMatch 1 MP:0001447 abnormal nest building behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0002354 Memory impairment skos:relatedMatch 1 MP:0001458 abnormal object recognition memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0001328 Specific learning disability skos:relatedMatch 1 MP:0001463 abnormal spatial learning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0001473 reduced long-term potentiation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0001475 reduced long-term depression semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0004325 Decreased body weight skos:relatedMatch 1 MP:0001698 decreased embryo size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0011733 Abnormality of adrenal physiology skos:broadMatch 1 MP:0001739 abnormal adrenal gland secretion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0001898 abnormal long-term depression semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0001900 impaired synaptic plasticity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0003251 Male infertility skos:exactMatch 0.9 MP:0001925 male infertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome| uncertainty as the HPO terms lacks a definition -HP:0002664 Neoplasm skos:exactMatch 1 MP:0002006 neoplasm semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0002664 Neoplasm skos:broadMatch 1 MP:0002018 increased malignant tumor incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0011446 Abnormality of higher mental function skos:relatedMatch 1 MP:0002063 abnormal learning/memory/conditioning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0001328 Specific learning disability skos:relatedMatch 1 MP:0002063 abnormal learning/memory/conditioning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012443 Abnormality of brain morphology skos:broadMatch 1 MP:0002176 increased brain weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0001311 Abnormal nervous system electrophysiology skos:exactMatch 1 MP:0002272 abnormal nervous system electrophysiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0025408 Abnormal spleen morphology skos:broadMatch 1 MP:0002356 abnormal spleen red pulp morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0005561 Abnormality of bone marrow cell morphology skos:broadMatch 1 MP:0002413 abnormal megakaryocyte progenitor cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0000752 Hyperactivity skos:broadMatch 1 MP:0002574 increased vertical activity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012206 Abnormal sperm motility skos:broadMatch 1 MP:0002675 asthenozoospermia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 "Down Syndrome| HP term is defined as any abnormality but all children are decreased motility so I rated the similarity fairly high, eq also used quality in general not any sort of decreased quality" -HP:0000798 Oligozoospermia skos:exactMatch 0.9 MP:0002687 oligozoospermia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome| possibly this could be close as the HP term includes in the definition specific sperm counts but child terms are present that don't fit with the count in the definition so I'm assuming that is the typical range but not an essential part of the definition -HP:0000708 Atypical behavior skos:broadMatch 1 MP:0002757 decreased vertical activity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0040171 Decreased serum testosterone concentration skos:exactMatch 0.9 MP:0002780 decreased circulating testosterone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome| HP term lacks text definition but eq uses blood not serum and MP has serum as a synonym so I think these are exact -HP:0000035 Abnormal testis morphology skos:broadMatch 1 MP:0002784 abnormal Sertoli cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome| may need to revise after HPO ticket is reviewed -HP:0000739 Anxiety skos:relatedMatch 1 MP:0002797 increased thigmotaxis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0002354 Memory impairment skos:relatedMatch 1 MP:0002800 abnormal short-term object recognition memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012757 Abnormal neuron morphology skos:exactMatch 1 MP:0002882 abnormal neuron morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0002251 Aganglionic megacolon skos:exactMatch 1 MP:0002926 aganglionic megacolon semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0003008 enhanced long-term potentiation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0025015 Abnormal vascular morphology skos:broadMatch 1 MP:0003229 abnormal vitelline vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0003240 loss of hippocampal neurons semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0002374 Diminished movement skos:relatedMatch 1 MP:0003313 abnormal locomotor activation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0002664 Neoplasm skos:broadMatch 1 MP:0003447 decreased tumor growth/size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0100851 Abnormal emotion/affect behavior skos:broadMatch 1 MP:0003461 abnormal response to novel object semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0003861 abnormal nervous system development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0000733 Abnormal repetitive mannerisms skos:relatedMatch 1 MP:0003908 decreased stereotypic behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0003117 Abnormal circulating hormone concentration skos:narrowMatch 1 MP:0003953 abnormal hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0004008 abnormal GABA-mediated receptor currents semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0004098 abnormal cerebellar granule cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0005557 Abnormal zygomatic arch morphology skos:exactMatch 1 MP:0004469 abnormal zygomatic arch morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0004807 abnormal paired-pulse inhibition semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0001871 Abnormality of blood and blood-forming tissues skos:broadMatch 1 MP:0004809 increased hematopoietic stem cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 9/29/2023 Down Syndrome -HP:0003712 Skeletal muscle hypertrophy skos:narrowMatch 1 MP:0004818 increased skeletal muscle mass semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0004948 abnormal neuronal precursor proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0004996 abnormal CNS synapse formation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0012443 Abnormality of brain morphology skos:broadMatch 1 MP:0005238 increased brain size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0011021 Abnormality of circulating enzyme level skos:narrowMatch 1 MP:0005319 abnormal enzyme/coenzyme level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0040195 Decreased head circumference skos:relatedMatch 1 MP:0005352 small cranium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 "Down Syndrome| possibly this could be narrow but I have concerns about calling head circumferunce a 'child' of small cranium. The HP term has microcephaly and mild microcephaly as children, MP has microcephaly as a child of head size" -HP:0001894 Thrombocytosis skos:exactMatch 1 MP:0005505 thrombocytosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0003287 Abnormality of mitochondrial metabolism skos:narrowMatch 1 MP:0006036 abnormal mitochondrial physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0012863 Abnormal male germ cell morphology skos:exactMatch 1 MP:0006362 abnormal male germ cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0012863 Abnormal male germ cell morphology skos:broadMatch 1 MP:0006378 abnormal spermatogonia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0020047 Abnormal myeloid cell morphology skos:broadMatch 1 MP:0006410 abnormal common myeloid progenitor cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0500032 Abnormal neuron branching skos:narrowMatch 1 MP:0008143 abnormal dendrite morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/2/2023 Down Syndrome -HP:0005513 Increased megakaryocyte count skos:exactMatch 1 MP:0008254 increased megakaryocyte cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0031515 Abnormal meiosis skos:broadMatch 1 MP:0008261 arrest of male meiosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0008263 abnormal hippocampus CA1 region morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0100961 Enlarged hippocampus skos:exactMatch 1 MP:0008282 enlarged hippocampus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0008285 abnormal hippocampus granule cell layer semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0008286 abnormal hippocampus molecular cell layer semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0002354 Memory impairment skos:relatedMatch 1 MP:0008414 abnormal spatial reference memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0002354 Memory impairment skos:relatedMatch 1 MP:0008428 abnormal spatial working memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0033687 Short term memory impairment skos:relatedMatch 1 MP:0008431 abnormal short-term spatial reference memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0033688 Long term memory impairment skos:relatedMatch 1 MP:0008432 abnormal long-term spatial reference memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0025408 Abnormal spleen morphology skos:broadMatch 1 MP:0008470 abnormal spleen B cell follicle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0011420 Age of death skos:relatedMatch 1 MP:0008770 decreased survivor rate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0100767 Abnormal placenta morphology skos:broadMatch 1 MP:0008803 abnormal placental labyrinth vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0025729 Fetal vascular malperfusion skos:relatedMatch 1 MP:0008803 abnormal placental labyrinth vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0025719 Maternal vascular malperfusion skos:relatedMatch 1 MP:0008803 abnormal placental labyrinth vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0033125 Follicular lymphoma skos:relatedMatch 1 MP:0009317 increased follicular lymphoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0033684 Abnormal muscle fiber-type distribution skos:exactMatch 1 MP:0009409 abnormal skeletal muscle fiber type ratio semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0100543 Cognitive impairment skos:broadMatch 1 MP:0009454 impaired contextual conditioning behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0100543 Cognitive impairment skos:broadMatch 1 MP:0009456 impaired cued conditioning behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0011397 Abnormality of the dorsal column of the spinal cord skos:exactMatch 0.9 MP:0009677 abnormal spinal cord dorsal column morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 "Down Syndrome| this is in the morphology branch in the HP but the definition does not limit the phenotypes to morphology, based on placement called this exact but decreased confidence due to the ambiguity of the definition" -HP:0030347 Abnormal circulating androgen level skos:exactMatch 1 MP:0009819 abnormal circulating androgen level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0009936 abnormal dendritic spine morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0009967 abnormal neuron proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0011420 Age of death skos:relatedMatch 1 MP:0010831 "lethality, incomplete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/3/2023 Down Syndrome -HP:0011017 Abnormal cellular physiology skos:broadMatch 1 MP:0010954 abnormal cellular respiration semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/12/2023 Down Syndrome -HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0011069 abnormal brain ependyma motile cilium physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/12/2023 Down Syndrome -HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0011150 abnormal hippocampus stratum oriens morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/12/2023 Down Syndrome -HP:0100543 Cognitive impairment skos:relatedMatch 1 MP:0011620 abnormal habituation to a new environment semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/12/2023 Down Syndrome -HP:0008322 Abnormal mitochondrial morphology skos:broadMatch 1 MP:0011639 decreased mitochondrial DNA content semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/12/2023 Down Syndrome -HP:0003546 Exercise intolerance skos:exactMatch 1 MP:0012106 impaired exercise endurance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/12/2023 Down Syndrome -HP:0033353 Abnormal blood vessel morphology skos:broadMatch 1 MP:0012253 abnormal intersomitic vessel morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/12/2023 Down Syndrome -HP:0100543 Cognitive impairment skos:relatedMatch 1 MP:0012307 impaired spatial learning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/13/2023 Down Syndrome -HP:0020222 Hypohomocysteinemia skos:exactMatch 1 MP:0012334 decreased circulating homocysteine level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/13/2023 Down Syndrome| add synonym to MP -HP:0100961 Enlarged hippocampus skos:closeMatch 1 MP:0020082 increased hippocampus volume semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/13/2023 Down Syndrome -HP:0034011 Reduced progressive sperm motility skos:exactMatch 0.9 MP:0020451 decreased sperm progressive motility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 10/13/2023 Down Syndrome| possibility the the HP term is slightly broader based on the text definition but I think the intent is for these to describe the same phenotype HP:0000144 Decreased fertility skos:exactMatch 1 MP:0001921 reduced fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000160 Narrow mouth skos:narrowMatch 1 MP:0009880 decreased mouth size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha HP:0000164 Abnormality of the dentition skos:closeMatch 0.9 MP:0002100 abnormal tooth morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| Orpha @@ -1532,4 +1424,112 @@ HP:0030680 Abnormality of cardiovascular system morphology skos:exactMatch 1 MP: HP:0100763 Abnormality of the lymphatic system skos:broadMatch 1 MP:0010368 abnormal lymphatic system physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0100763 Abnormality of the lymphatic system skos:broadMatch 1 MP:0001879 abnormal lymphatic vessel morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha HP:0100830 Round ear skos:narrowMatch 1 MP:0000022 abnormal ear shape semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| Orpha -HP:0100867 Duodenal stenosis skos:narrowMatch 1 MP:0003271 abnormal duodenum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM \ No newline at end of file +HP:0100867 Duodenal stenosis skos:narrowMatch 1 MP:0003271 abnormal duodenum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-23 Down Syndrome| OMIM +HP:0001640 Cardiomegaly skos:exactMatch 1 MP:0000274 enlarged heart semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome +HP:0001697 Abnormal pericardium morphology skos:broadMatch 1 MP:0000291 enlarged pericardium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome +HP:0030681 Abnormal morphology of myocardial trabeculae skos:broadMatch 1 MP:0000295 trabecula carnea hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome +HP:0006695 Atrioventricular canal defect skos:relatedMatch 1 MP:0000299 failure of atrioventricular cushion closure semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome +HP:0011805 Abnormal skeletal muscle morphology skos:exactMatch 1 MP:0000759 abnormal skeletal muscle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 Down Syndrome +HP:0006891 Thick cerebral cortex skos:exactMatch 0.9 MP:0000789 thickened cerebral cortex semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-26 "Down Syndrome| mapping based on placement, EQ, and label as HPO term lacks definition" +HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0000812 abnormal dentate gyrus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome +HP:0030047 Abnormal lateral ventricle morphology skos:exactMatch 1 MP:0000823 abnormal lateral ventricle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome +HP:0010951 Abnormal third ventricle morphology skos:exactMatch 1 MP:0000826 abnormal third ventricle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome +HP:0010663 Abnormality of thalamus morphology skos:exactMatch 1 MP:0000832 abnormal thalamus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome +HP:0002538 Abnormal cerebral cortex morphology skos:broadMatch 1 MP:0000859 abnormal somatosensory cortex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome +HP:0010953 Noncommunicating hydrocephalus skos:exactMatch 1 MP:0000917 obstructive hydrocephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome +HP:0010824 Abnormal fifth cranial nerve morphology skos:exactMatch 1 MP:0001065 abnormal trigeminal nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome +HP:0031038 Spermatogenesis maturation arrest skos:closeMatch 0.9 MP:0001155 arrest of spermatogenesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-28 Down Syndrome +HP:0008669 Abnormal spermatogenesis skos:exactMatch 1 MP:0001156 abnormal spermatogenesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0004324 Increased body weight skos:exactMatch 1 MP:0001260 increased body weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0100852 Abnormal fear/anxiety-related behavior skos:broadMatch 1 MP:0001364 decreased anxiety-related response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0100022 Abnormality of movement skos:broadMatch 1 MP:0001392 abnormal locomotor behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0000733 Abnormal repetitive mannerisms skos:relatedMatch 1 MP:0001409 increased stereotypic behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012433 Abnormal social behavior skos:broadMatch 1 MP:0001447 abnormal nest building behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0002354 Memory impairment skos:relatedMatch 1 MP:0001458 abnormal object recognition memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0001328 Specific learning disability skos:relatedMatch 1 MP:0001463 abnormal spatial learning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0001473 reduced long-term potentiation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0001475 reduced long-term depression semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0004325 Decreased body weight skos:relatedMatch 1 MP:0001698 decreased embryo size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0011733 Abnormality of adrenal physiology skos:broadMatch 1 MP:0001739 abnormal adrenal gland secretion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0001898 abnormal long-term depression semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0001900 impaired synaptic plasticity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0003251 Male infertility skos:exactMatch 0.9 MP:0001925 male infertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome| uncertainty as the HPO terms lacks a definition +HP:0002664 Neoplasm skos:exactMatch 1 MP:0002006 neoplasm semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0002664 Neoplasm skos:broadMatch 1 MP:0002018 increased malignant tumor incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0011446 Abnormality of higher mental function skos:relatedMatch 1 MP:0002063 abnormal learning/memory/conditioning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0001328 Specific learning disability skos:relatedMatch 1 MP:0002063 abnormal learning/memory/conditioning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012443 Abnormality of brain morphology skos:broadMatch 1 MP:0002176 increased brain weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0001311 Abnormal nervous system electrophysiology skos:exactMatch 1 MP:0002272 abnormal nervous system electrophysiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0025408 Abnormal spleen morphology skos:broadMatch 1 MP:0002356 abnormal spleen red pulp morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0005561 Abnormality of bone marrow cell morphology skos:broadMatch 1 MP:0002413 abnormal megakaryocyte progenitor cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0000752 Hyperactivity skos:broadMatch 1 MP:0002574 increased vertical activity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012206 Abnormal sperm motility skos:broadMatch 1 MP:0002675 asthenozoospermia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 "Down Syndrome| HP term is defined as any abnormality but all children are decreased motility so I rated the similarity fairly high, eq also used quality in general not any sort of decreased quality" +HP:0000798 Oligozoospermia skos:exactMatch 0.9 MP:0002687 oligozoospermia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome| possibly this could be close as the HP term includes in the definition specific sperm counts but child terms are present that don't fit with the count in the definition so I'm assuming that is the typical range but not an essential part of the definition +HP:0000708 Atypical behavior skos:broadMatch 1 MP:0002757 decreased vertical activity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0040171 Decreased serum testosterone concentration skos:exactMatch 0.9 MP:0002780 decreased circulating testosterone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome| HP term lacks text definition but eq uses blood not serum and MP has serum as a synonym so I think these are exact +HP:0000035 Abnormal testis morphology skos:broadMatch 1 MP:0002784 abnormal Sertoli cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome| may need to revise after HPO ticket is reviewed +HP:0000739 Anxiety skos:relatedMatch 1 MP:0002797 increased thigmotaxis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0002354 Memory impairment skos:relatedMatch 1 MP:0002800 abnormal short-term object recognition memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012757 Abnormal neuron morphology skos:exactMatch 1 MP:0002882 abnormal neuron morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0002251 Aganglionic megacolon skos:exactMatch 1 MP:0002926 aganglionic megacolon semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0003008 enhanced long-term potentiation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0025015 Abnormal vascular morphology skos:broadMatch 1 MP:0003229 abnormal vitelline vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0003240 loss of hippocampal neurons semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0002374 Diminished movement skos:relatedMatch 1 MP:0003313 abnormal locomotor activation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0002664 Neoplasm skos:broadMatch 1 MP:0003447 decreased tumor growth/size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0100851 Abnormal emotion/affect behavior skos:broadMatch 1 MP:0003461 abnormal response to novel object semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0003861 abnormal nervous system development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0000733 Abnormal repetitive mannerisms skos:relatedMatch 1 MP:0003908 decreased stereotypic behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0003117 Abnormal circulating hormone concentration skos:narrowMatch 1 MP:0003953 abnormal hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0004008 abnormal GABA-mediated receptor currents semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0004098 abnormal cerebellar granule cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0005557 Abnormal zygomatic arch morphology skos:exactMatch 1 MP:0004469 abnormal zygomatic arch morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0012535 Abnormal synaptic transmission skos:broadMatch 1 MP:0004807 abnormal paired-pulse inhibition semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0001871 Abnormality of blood and blood-forming tissues skos:broadMatch 1 MP:0004809 increased hematopoietic stem cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-29 Down Syndrome +HP:0003712 Skeletal muscle hypertrophy skos:narrowMatch 1 MP:0004818 increased skeletal muscle mass semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0004948 abnormal neuronal precursor proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0004996 abnormal CNS synapse formation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0012443 Abnormality of brain morphology skos:broadMatch 1 MP:0005238 increased brain size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0011021 Abnormality of circulating enzyme level skos:narrowMatch 1 MP:0005319 abnormal enzyme/coenzyme level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0040195 Decreased head circumference skos:relatedMatch 1 MP:0005352 small cranium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 "Down Syndrome| possibly this could be narrow but I have concerns about calling head circumferunce a 'child' of small cranium. The HP term has microcephaly and mild microcephaly as children, MP has microcephaly as a child of head size" +HP:0001894 Thrombocytosis skos:exactMatch 1 MP:0005505 thrombocytosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0003287 Abnormality of mitochondrial metabolism skos:narrowMatch 1 MP:0006036 abnormal mitochondrial physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0012863 Abnormal male germ cell morphology skos:exactMatch 1 MP:0006362 abnormal male germ cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0012863 Abnormal male germ cell morphology skos:broadMatch 1 MP:0006378 abnormal spermatogonia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0020047 Abnormal myeloid cell morphology skos:broadMatch 1 MP:0006410 abnormal common myeloid progenitor cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0500032 Abnormal neuron branching skos:narrowMatch 1 MP:0008143 abnormal dendrite morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-02 Down Syndrome +HP:0005513 Increased megakaryocyte count skos:exactMatch 1 MP:0008254 increased megakaryocyte cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0031515 Abnormal meiosis skos:broadMatch 1 MP:0008261 arrest of male meiosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0008263 abnormal hippocampus CA1 region morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0100961 Enlarged hippocampus skos:exactMatch 1 MP:0008282 enlarged hippocampus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0008285 abnormal hippocampus granule cell layer semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0008286 abnormal hippocampus molecular cell layer semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0002354 Memory impairment skos:relatedMatch 1 MP:0008414 abnormal spatial reference memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0002354 Memory impairment skos:relatedMatch 1 MP:0008428 abnormal spatial working memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0033687 Short term memory impairment skos:relatedMatch 1 MP:0008431 abnormal short-term spatial reference memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0033688 Long term memory impairment skos:relatedMatch 1 MP:0008432 abnormal long-term spatial reference memory semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0025408 Abnormal spleen morphology skos:broadMatch 1 MP:0008470 abnormal spleen B cell follicle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0011420 Age of death skos:relatedMatch 1 MP:0008770 decreased survivor rate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0100767 Abnormal placenta morphology skos:broadMatch 1 MP:0008803 abnormal placental labyrinth vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0025729 Fetal vascular malperfusion skos:relatedMatch 1 MP:0008803 abnormal placental labyrinth vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0025719 Maternal vascular malperfusion skos:relatedMatch 1 MP:0008803 abnormal placental labyrinth vasculature morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0033125 Follicular lymphoma skos:relatedMatch 1 MP:0009317 increased follicular lymphoma incidence semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0033684 Abnormal muscle fiber-type distribution skos:exactMatch 1 MP:0009409 abnormal skeletal muscle fiber type ratio semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0100543 Cognitive impairment skos:broadMatch 1 MP:0009454 impaired contextual conditioning behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0100543 Cognitive impairment skos:broadMatch 1 MP:0009456 impaired cued conditioning behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0011397 Abnormality of the dorsal column of the spinal cord skos:exactMatch 0.9 MP:0009677 abnormal spinal cord dorsal column morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 "Down Syndrome| this is in the morphology branch in the HP but the definition does not limit the phenotypes to morphology, based on placement called this exact but decreased confidence due to the ambiguity of the definition" +HP:0030347 Abnormal circulating androgen level skos:exactMatch 1 MP:0009819 abnormal circulating androgen level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0009936 abnormal dendritic spine morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0009967 abnormal neuron proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0011420 Age of death skos:relatedMatch 1 MP:0010831 "lethality, incomplete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-03 Down Syndrome +HP:0011017 Abnormal cellular physiology skos:broadMatch 1 MP:0010954 abnormal cellular respiration semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome +HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0011069 abnormal brain ependyma motile cilium physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome +HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0011150 abnormal hippocampus stratum oriens morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome +HP:0100543 Cognitive impairment skos:relatedMatch 1 MP:0011620 abnormal habituation to a new environment semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome +HP:0008322 Abnormal mitochondrial morphology skos:broadMatch 1 MP:0011639 decreased mitochondrial DNA content semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome +HP:0003546 Exercise intolerance skos:exactMatch 1 MP:0012106 impaired exercise endurance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome +HP:0033353 Abnormal blood vessel morphology skos:broadMatch 1 MP:0012253 abnormal intersomitic vessel morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-12 Down Syndrome +HP:0100543 Cognitive impairment skos:relatedMatch 1 MP:0012307 impaired spatial learning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome +HP:0020222 Hypohomocysteinemia skos:exactMatch 1 MP:0012334 decreased circulating homocysteine level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| add synonym to MP +HP:0100961 Enlarged hippocampus skos:closeMatch 1 MP:0020082 increased hippocampus volume semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome +HP:0034011 Reduced progressive sperm motility skos:exactMatch 0.9 MP:0020451 decreased sperm progressive motility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-10-13 Down Syndrome| possibility the the HP term is slightly broader based on the text definition but I think the intent is for these to describe the same phenotype \ No newline at end of file