# curie_map: # HP: http://purl.obolibrary.org/obo/HP_ # SCTID: http://purl.obolibrary.org/obo/SCTID_ # MONARCHPROP: https://data.monarchinitiative.org/property/ # biolink: http://w3id.org/biolink/vocab/ # comment: Work in progress (Updated 2025-02-18). This is the beginning of a mapping file between HPO and SNOMED-CT. # license: https://creativecommons.org/licenses/by/4.0/ # mapping_set_id: http://w3id.org/sssom/commons/monarch/hpo-snomed.sssom.tsv # see_also: https://www.snomed.org/news/snomed-and-the-monarch-initiative-collaborate-to-develop-two-way-maps-for-hpo subject_id subject_label subject_category predicate_id object_id object_label object_category ext_custom_predicate_id mapping_justification ext_comment_tg ext_comment_sm HP:0000003 Multicystic kidney dysplasia biolink:PhenotypicFeature skos:exactMatch SCTID:737562008 Multicystic renal dysplasia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000011 Neurogenic bladder biolink:PhenotypicFeature skos:exactMatch SCTID:398064005 Neurogenic bladder (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000012 Urinary urgency biolink:PhenotypicFeature skos:exactMatch SCTID:75088002 Urgent desire to urinate (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000013 Hypoplasia of the uterus biolink:PhenotypicFeature skos:exactMatch SCTID:35850006 Infantile uterus (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000016 Urinary retention biolink:PhenotypicFeature skos:exactMatch SCTID:267064002 Retention of urine (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000017 Nocturia biolink:PhenotypicFeature skos:exactMatch SCTID:139394000 Nocturia (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000019 Urinary hesitancy biolink:PhenotypicFeature skos:exactMatch SCTID:5972002 Delay when starting to pass urine (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000021 Megacystis biolink:PhenotypicFeature skos:exactMatch SCTID:93052002 Congenital dilatation of bladder (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000023 Inguinal hernia biolink:PhenotypicFeature skos:exactMatch SCTID:396232000 Inguinal hernia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000024 Prostatitis biolink:PhenotypicFeature skos:exactMatch SCTID:9713002 Prostatitis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000026 Male hypogonadism biolink:PhenotypicFeature skos:exactMatch SCTID:48723006 Male hypogonadism (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000029 Testicular atrophy biolink:PhenotypicFeature skos:exactMatch SCTID:17585008 Atrophy of testis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000030 Testicular gonadoblastoma biolink:PhenotypicFeature skos:exactMatch SCTID:1162859004 Gonadoblastoma of testis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000031 Epididymitis biolink:PhenotypicFeature skos:exactMatch SCTID:31070006 Epididymitis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000033 Ambiguous genitalia, male biolink:PhenotypicFeature skos:broadMatch SCTID:21321009 Ambiguous genitalia (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0000039 Epispadias biolink:PhenotypicFeature skos:exactMatch SCTID:406476007 Epispadias (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000040 Long penis biolink:PhenotypicFeature skos:exactMatch SCTID:88673001 Large penis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration SNOMED has 'Small penis' as child of SCTID:366285002 | Finding of size of penis (finding), but not 'Large penis' HP:0000041 Chordee biolink:PhenotypicFeature skos:exactMatch SCTID:4287008 Chordee (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000042 Absent external genitalia biolink:PhenotypicFeature skos:broadMatch SCTID:204821009 Congenital malformation of genital organs (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0000044 Hypogonadotropic hypogonadism biolink:PhenotypicFeature skos:exactMatch SCTID:33927004 Hypogonadotropic hypogonadism (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000046 Small scrotum biolink:PhenotypicFeature skos:exactMatch SCTID:276332008 Small scrotum (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000048 Bifid scrotum biolink:PhenotypicFeature skos:exactMatch SCTID:236780002 Bifid scrotum (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000049 Shawl scrotum biolink:PhenotypicFeature skos:broadMatch SCTID:249232003 Scrotum finding (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0000051 Perineal hypospadias biolink:PhenotypicFeature skos:exactMatch SCTID:204890004 Hypospadias, perineal (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000052 Urethral atresia, male biolink:PhenotypicFeature skos:broadMatch SCTID:253902002 Atresia of urethra (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0000054 Micropenis biolink:PhenotypicFeature skos:exactMatch SCTID:34911001 Congenital hypoplasia of penis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000059 Hypoplastic labia majora biolink:PhenotypicFeature skos:exactMatch SCTID:289469003 Small labia majora (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000060 Clitoral hypoplasia biolink:PhenotypicFeature skos:exactMatch SCTID:248869003 Small clitoris (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000061 Ambiguous genitalia, female biolink:PhenotypicFeature skos:broadMatch SCTID:21321009 Ambiguous genitalia (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0000064 Hypoplastic labia minora biolink:PhenotypicFeature skos:exactMatch SCTID:289471003 Small labia minora (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000067 Urethral atresia, female biolink:PhenotypicFeature skos:broadMatch SCTID:253902002 Atresia of urethra (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0000070 Ureterocele biolink:PhenotypicFeature skos:exactMatch SCTID:12818004 Ureterocele (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000074 Ureteropelvic junction obstruction biolink:PhenotypicFeature skos:exactMatch SCTID:373584008 Congenital obstruction of ureteropelvic junction (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000081 Duplicated collecting system biolink:PhenotypicFeature skos:exactMatch SCTID:707770004 Congenital duplication of renal collecting system (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000085 Horseshoe kidney biolink:PhenotypicFeature skos:exactMatch SCTID:41729002 Horseshoe kidney (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000090 Nephronophthisis biolink:PhenotypicFeature skos:exactMatch SCTID:204958008 Nephronophthisis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000097 Focal segmental glomerulosclerosis biolink:PhenotypicFeature skos:exactMatch SCTID:236403004 Focal segmental glomerulosclerosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000103 Polyuria biolink:PhenotypicFeature skos:exactMatch SCTID:28442001 Polyuria (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000105 Enlarged kidney biolink:PhenotypicFeature skos:exactMatch SCTID:300444006 Large kidney (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000112 Nephropathy biolink:PhenotypicFeature skos:exactMatch SCTID:90708001 Kidney disease (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000113 Polycystic kidney dysplasia biolink:PhenotypicFeature skos:exactMatch SCTID:82525005 Congenital cystic kidney disease (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000117 Renal phosphate wasting biolink:PhenotypicFeature skos:exactMatch SCTID:197664009 Phosphate-losing tubular disorders (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000122 Unilateral renal agenesis biolink:PhenotypicFeature skos:broadMatch SCTID:204942005 Renal agenesis (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration SNOMED defines concrete terms for laterality 762907005 | Agenesis of left kidney (disorder) and 762908000 | Agenesis of right kidney (disorder) HP:0000125 Pelvic kidney biolink:PhenotypicFeature skos:exactMatch SCTID:56108007 Congenital pelvic kidney (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000126 Hydronephrosis biolink:PhenotypicFeature skos:exactMatch SCTID:43064006 Hydronephrosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000127 Renal salt wasting biolink:PhenotypicFeature skos:broadMatch SCTID:167426005 Urine electrolytes abnormal (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0000127 Renal salt wasting biolink:PhenotypicFeature skos:broadMatch SCTID:123807007 Sodium disorder (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration findingToFindingCloseMatch? HP:0000128 Renal potassium wasting biolink:PhenotypicFeature skos:broadMatch SCTID:24529006 Potassium disorder (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0000131 Uterine leiomyoma biolink:PhenotypicFeature skos:exactMatch SCTID:95315005 Uterine leiomyoma (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000132 Menorrhagia biolink:PhenotypicFeature skos:exactMatch SCTID:386692008 Menorrhagia (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000134 Female hypogonadism biolink:PhenotypicFeature skos:exactMatch SCTID:16041008 Female hypogonadism syndrome (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000136 Bifid uterus biolink:PhenotypicFeature skos:exactMatch SCTID:31401003 Bicornuate uterus (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000139 Uterine prolapse biolink:PhenotypicFeature skos:exactMatch SCTID:24976005 Uterine prolapse (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000143 Rectovaginal fistula biolink:PhenotypicFeature skos:exactMatch SCTID:65619001 Rectovaginal fistula (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000145 Transverse vaginal septum biolink:PhenotypicFeature skos:exactMatch SCTID:142191000119104 Congenital transverse septate vagina (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000148 Vaginal atresia biolink:PhenotypicFeature skos:exactMatch SCTID:10736081000119101 Congenital atresia of vagina (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000149 Ovarian gonadoblastoma biolink:PhenotypicFeature skos:exactMatch SCTID:716594002 Gonadoblastoma of ovary (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000151 Aplasia of the uterus biolink:PhenotypicFeature skos:exactMatch SCTID:17142008 Congenital absence of uterus (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000196 Lower lip pit biolink:PhenotypicFeature skos:exactMatch SCTID:403438007 Congenital lower lip pits (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000214 Lip telangiectasia biolink:PhenotypicFeature skos:broadMatch SCTID:112641009 Telangiectasis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mapping: 247479008 | Telangiectasia disorder (disorder) ok - a more specific match might be SCTID:125278009 Focal telangiectasis (morphologic abnormality) HP:0000222 Gingival hyperkeratosis biolink:PhenotypicFeature skos:broadMatch SCTID:26996000 Hyperkeratosis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mapping: 254666005 | Keratosis (disorder) ok - a more specific match might be SCTID:110445001 Focal hyperkeratosis (morphologic abnormality) HP:0000224 Hypogeusia biolink:PhenotypicFeature skos:exactMatch SCTID:697990000 Hypogeusia (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000227 Tongue telangiectasia biolink:PhenotypicFeature skos:broadMatch SCTID:112641009 Telangiectasis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mapping: 247479008 | Telangiectasia disorder (disorder) ok - a more specific match might be SCTID:125278009 Focal telangiectasis (morphologic abnormality) HP:0000227 Tongue telangiectasia biolink:PhenotypicFeature skos:broadMatch SCTID:112641009 Telangiectasis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mapping: 247479008 | Telangiectasia disorder (disorder) HP:0000253 Progressive microcephaly biolink:PhenotypicFeature skos:broadMatch SCTID:1148757008 Microcephaly (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0000255 Acute sinusitis biolink:PhenotypicFeature skos:exactMatch SCTID:15805002 Acute sinusitis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000294 Low anterior hairline biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0000316 Hypertelorism biolink:PhenotypicFeature skos:exactMatch SCTID:22006008 Hypertelorism (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000317 Facial myokymia biolink:PhenotypicFeature skos:exactMatch SCTID:1070000 Facial myokymia (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000349 Widow's peak biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0000384 Preauricular skin tag biolink:PhenotypicFeature skos:exactMatch SCTID:204245004 Accessory tragus (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration Ambiguous: HPO term lists 'Preauricular tag' as synonym, which is a synonym of SCTID:204245004. 'Accessory tragus' however is listed as synonym of HP:0030024 | Pretragal ectopia HP:0000434 Nasal mucosa telangiectasia biolink:PhenotypicFeature skos:broadMatch SCTID:112641009 Telangiectasis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mapping: 247479008 | Telangiectasia disorder (disorder) ok - a more specific match might be SCTID:125278009 Focal telangiectasis (morphologic abnormality) HP:0000434 Nasal mucosa telangiectasia biolink:PhenotypicFeature skos:broadMatch SCTID:112641009 Telangiectasis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mapping: 247479008 | Telangiectasia disorder (disorder) HP:0000482 Microcornea biolink:PhenotypicFeature skos:exactMatch SCTID:26098002 Microcornea (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000484 Hyperopic astigmatism biolink:PhenotypicFeature skos:exactMatch SCTID:449734001 Hyperopic astigmatism (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000485 Megalocornea biolink:PhenotypicFeature skos:exactMatch SCTID:268158009 Megalocornea (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration ok HP:0000490 Deeply set eye biolink:PhenotypicFeature skos:exactMatch SCTID:246923005 Sunken eyes (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000503 Tortuosity of conjunctival vessels biolink:PhenotypicFeature skos:broadMatch SCTID:246875002 Conjunctival finding (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0000522 Alacrima biolink:PhenotypicFeature skos:exactMatch SCTID:253215004 Alacrima (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000524 Conjunctival telangiectasia biolink:PhenotypicFeature skos:broadMatch SCTID:112641009 Telangiectasis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mapping: 247479008 | Telangiectasia disorder (disorder) HP:0000524 Conjunctival telangiectasia biolink:PhenotypicFeature skos:broadMatch SCTID:112641009 Telangiectasis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mapping: 247479008 | Telangiectasia disorder (disorder) Analogous to HP:0000503 (see above, 417) I would prefer SCTID:246875002 ("Conjunctival finding") --> findingToFindingBroad Match HP:0000526 Aniridia biolink:PhenotypicFeature skos:exactMatch SCTID:69278003 Congenital aniridia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000531 Corneal crystals biolink:PhenotypicFeature skos:exactMatch SCTID:74460005 Corneal deposit (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration Secondary mapping: 678881000119107 | Deposit in bilateral corneas (disorder) HP:0000535 Sparse and thin eyebrow biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0000538 Pseudopapilledema biolink:PhenotypicFeature skos:exactMatch SCTID:57138009 Pseudopapilledema (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000542 Impaired ocular adduction biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0000550 Undetectable electroretinogram biolink:PhenotypicFeature skos:broadMatch SCTID:274524001 Electroretinogram abnormal (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0000552 Tritanomaly biolink:PhenotypicFeature skos:exactMatch SCTID:51886007 Tritan defect (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000555 Leukocoria biolink:PhenotypicFeature skos:exactMatch SCTID:1361009 Leukocoria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000557 Buphthalmos biolink:PhenotypicFeature skos:exactMatch SCTID:413728006 Buphthalmos (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000558 Rieger anomaly biolink:PhenotypicFeature skos:exactMatch SCTID:47507006 Rieger syndrome (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000559 Corneal scarring biolink:PhenotypicFeature skos:exactMatch SCTID:95726001 Corneal scar (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000563 Keratoconus biolink:PhenotypicFeature skos:exactMatch SCTID:65636009 Keratoconus (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000574 Thick eyebrow biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0000576 Centrocecal scotoma biolink:PhenotypicFeature skos:exactMatch SCTID:33014001 Centrocecal scotoma (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000585 Band keratopathy biolink:PhenotypicFeature skos:exactMatch SCTID:35055000 Band-shaped keratopathy (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration ok HP:0000588 Optic disc coloboma biolink:PhenotypicFeature skos:exactMatch SCTID:44295002 Congenital coloboma of optic disc (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000590 Progressive external ophthalmoplegia biolink:PhenotypicFeature skos:exactMatch SCTID:46252003 Progressive external ophthalmoplegia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000592 Blue sclerae biolink:PhenotypicFeature skos:exactMatch SCTID:204164000 Blue sclera (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000594 Shallow anterior chamber biolink:PhenotypicFeature skos:exactMatch SCTID:246986004 Shallow anterior chamber of eye (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000601 Hypotelorism biolink:PhenotypicFeature skos:exactMatch SCTID:44593008 Orbital separation diminished (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000603 Central scotoma biolink:PhenotypicFeature skos:exactMatch SCTID:38950008 Central scotoma (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000607 Periorbital wrinkles biolink:PhenotypicFeature skos:exactMatch SCTID:10360000 Crow's feet (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000612 Iris coloboma biolink:PhenotypicFeature skos:exactMatch SCTID:51485001 Congenital coloboma of iris (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000613 Photophobia biolink:PhenotypicFeature skos:exactMatch SCTID:409668002 Photophobia (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000619 Impaired convergence biolink:PhenotypicFeature skos:exactMatch SCTID:194131002 Convergence insufficiency (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000623 Supranuclear ophthalmoplegia biolink:PhenotypicFeature skos:narrowMatch SCTID:28978003 Progressive supranuclear ophthalmoplegia (disorder) biolink:Disease semapv:findingToFindingNarrowMatch semapv:ManualMappingCuration HP:0000627 Posterior embryotoxon biolink:PhenotypicFeature skos:exactMatch SCTID:392437005 Posterior embryotoxon (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000634 Impaired ocular abduction biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0000635 Blue irides biolink:PhenotypicFeature skos:exactMatch SCTID:301952009 Blue iris (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000643 Blepharospasm biolink:PhenotypicFeature skos:exactMatch SCTID:59026006 Blepharospasm (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000646 Amblyopia biolink:PhenotypicFeature skos:exactMatch SCTID:387742006 Amblyopia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000647 Sclerocornea biolink:PhenotypicFeature skos:exactMatch SCTID:95479005 Congenital sclerocornea (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000650 Abnormal amplitude of pattern reversal visual evoked potentials biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0000651 Diplopia biolink:PhenotypicFeature skos:exactMatch SCTID:24982008 Diplopia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000654 Decreased light- and dark-adapted electroretinogram amplitude biolink:PhenotypicFeature skos:broadMatch SCTID:274524001 Electroretinogram abnormal (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0000657 Oculomotor apraxia biolink:PhenotypicFeature skos:exactMatch SCTID:193662007 Oculomotor apraxia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000658 Eyelid apraxia biolink:PhenotypicFeature skos:exactMatch SCTID:423142006 Apraxia of eyelid (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000660 Lipemia retinalis biolink:PhenotypicFeature skos:exactMatch SCTID:95692001 Lipidemia retinalis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000664 Synophrys biolink:PhenotypicFeature skos:exactMatch SCTID:253207002 Synophrys (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000667 Phthisis bulbi biolink:PhenotypicFeature skos:exactMatch SCTID:4229009 Globe of eye shrunken (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000710 Hyperorality biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0000712 Emotional lability biolink:PhenotypicFeature skos:exactMatch SCTID:18963009 Mood swings (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000713 Agitation biolink:PhenotypicFeature skos:exactMatch SCTID:24199005 Feeling agitated (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000716 Depression biolink:PhenotypicFeature skos:exactMatch SCTID:366979004 Depressed mood (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration Secondary mapping: 35489007 | Depressive disorder (disorder) HP:0000717 Autism biolink:PhenotypicFeature skos:exactMatch SCTID:408856003 Autistic disorder (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration ok - I cannot find SCTID:408856003 - but SCTID:35919005 Pervasive developmental disorder (disorder)!? HP:0000718 Aggressive behavior biolink:PhenotypicFeature skos:exactMatch SCTID:61372001 Aggressive behavior (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000721 Lack of spontaneous play biolink:PhenotypicFeature skos:exactMatch SCTID:300787005 Unable to initiate spontaneous play (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000727 Frontal lobe dementia biolink:PhenotypicFeature skos:exactMatch SCTID:278857002 Dementia of frontal lobe type (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000728 Impaired ability to form peer relationships biolink:PhenotypicFeature skos:broadMatch SCTID:88598008 Impaired social interaction (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0000737 Irritability biolink:PhenotypicFeature skos:exactMatch SCTID:55929007 Feeling irritable (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000740 Episodic paroxysmal anxiety biolink:PhenotypicFeature skos:exactMatch SCTID:371631005 Panic disorder (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000741 Apathy biolink:PhenotypicFeature skos:exactMatch SCTID:20602000 Indifference (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000744 Low frustration tolerance biolink:PhenotypicFeature skos:exactMatch SCTID:286757009 Tends to be intolerant of frustration (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000749 Paroxysmal bursts of laughter biolink:PhenotypicFeature skos:broadMatch SCTID:247985007 Inappropriate laughter (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0000751 Personality changes biolink:PhenotypicFeature skos:exactMatch SCTID:102943000 Personality change (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration Secondary mapping: 192073007 | Change in personality (disorder) HP:0000753 Autism with high cognitive abilities biolink:PhenotypicFeature skos:exactMatch SCTID:702732007 High-functioning autism (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000756 Agoraphobia biolink:PhenotypicFeature skos:exactMatch SCTID:70691001 Agoraphobia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0000757 Lack of insight biolink:PhenotypicFeature skos:exactMatch SCTID:24340004 Lack of insight (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0000817 Poor eye contact biolink:PhenotypicFeature skos:exactMatch SCTID:412786000 Poor eye contact (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration ok - HP:0000817 = Reduced eye contact HP:0000845 Elevated circulating growth hormone concentration biolink:PhenotypicFeature skos:broadMatch SCTID:131005001 Increased human growth hormone level (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0001386 Joint swelling biolink:PhenotypicFeature skos:exactMatch SCTID:271771009 Joint swelling (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0001402 Hepatocellular carcinoma biolink:PhenotypicFeature skos:exactMatch SCTID:109841003 Liver cell carcinoma (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001403 Macrovesicular hepatic steatosis biolink:PhenotypicFeature skos:broadMatch SCTID:197321007 Steatosis of liver (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration Secondary mapping: 29185008 | Fatty degeneration (morphologic abnormality) HP:0001404 Hepatocellular necrosis biolink:PhenotypicFeature skos:broadMatch SCTID:87248009 Hepatic necrosis (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0001405 Periportal fibrosis biolink:PhenotypicFeature skos:exactMatch SCTID:870517000 Periportal fibrosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001407 Hepatic cysts biolink:PhenotypicFeature skos:exactMatch SCTID:85057007 Cyst of liver (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001408 Bile duct proliferation biolink:PhenotypicFeature skos:exactMatch SCTID:20239009 Bile duct proliferation (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001413 Micronodular cirrhosis biolink:PhenotypicFeature skos:exactMatch SCTID:21861000 Micronodular cirrhosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001414 Microvesicular hepatic steatosis biolink:PhenotypicFeature skos:broadMatch SCTID:197321007 Steatosis of liver (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration Secondary mapping: 29185008 | Fatty degeneration (morphologic abnormality) HP:0001433 Hepatosplenomegaly biolink:PhenotypicFeature skos:exactMatch SCTID:36760000 Hepatosplenomegaly (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001483 Eye poking biolink:PhenotypicFeature skos:exactMatch SCTID:78894008 Eye poking (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0001489 Posterior vitreous detachment biolink:PhenotypicFeature skos:exactMatch SCTID:247081001 Posterior vitreous detachment (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001491 Congenital fibrosis of extraocular muscles biolink:PhenotypicFeature skos:broadMatch SCTID:400946004 Congenital fibrosis syndrome (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0001492 Axenfeld anomaly biolink:PhenotypicFeature skos:exactMatch SCTID:204152008 Axenfeld anomaly (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001493 Falciform retinal fold biolink:PhenotypicFeature skos:exactMatch SCTID:204181009 Congenital retinal fold (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001537 Umbilical hernia biolink:PhenotypicFeature skos:exactMatch SCTID:396347007 Umbilical hernia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001538 Protuberant abdomen biolink:PhenotypicFeature skos:broadMatch SCTID:60728008 Swollen abdomen (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0001539 Omphalocele biolink:PhenotypicFeature skos:exactMatch SCTID:18735004 Congenital omphalocele (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001540 Diastasis recti biolink:PhenotypicFeature skos:exactMatch SCTID:62629000 Diastasis recti (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001543 Gastroschisis biolink:PhenotypicFeature skos:exactMatch SCTID:72951007 Gastroschisis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001544 Prominent umbilicus biolink:PhenotypicFeature skos:exactMatch SCTID:249539006 Protruding umbilicus (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0001545 Anteriorly placed anus biolink:PhenotypicFeature skos:broadMatch SCTID:5153001 Ectopic anus (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0001579 Primary hypercortisolism biolink:PhenotypicFeature skos:broadMatch SCTID:47270006 Hypercortisolism (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0001583 Rotary nystagmus biolink:PhenotypicFeature skos:exactMatch SCTID:44526006 Rotary nystagmus (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001586 Vesicovaginal fistula biolink:PhenotypicFeature skos:exactMatch SCTID:89405008 Vesicovaginal fistula (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001598 Concave nail biolink:PhenotypicFeature skos:exactMatch SCTID:66270006 Koilonychia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001601 Laryngomalacia biolink:PhenotypicFeature skos:exactMatch SCTID:38086007 Laryngomalacia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001607 Subglottic stenosis biolink:PhenotypicFeature skos:exactMatch SCTID:22668006 Subglottic stenosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001640 Cardiomegaly biolink:PhenotypicFeature skos:exactMatch SCTID:8186001 Cardiomegaly (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001642 Pulmonic stenosis biolink:PhenotypicFeature skos:exactMatch SCTID:56786000 Pulmonic valve stenosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001644 Dilated cardiomyopathy biolink:PhenotypicFeature skos:exactMatch SCTID:399020009 Congestive cardiomyopathy (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001645 Sudden cardiac death biolink:PhenotypicFeature skos:exactMatch SCTID:95281009 Sudden cardiac death (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001648 Cor pulmonale biolink:PhenotypicFeature skos:exactMatch SCTID:83291003 Cor pulmonale (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001650 Aortic valve stenosis biolink:PhenotypicFeature skos:exactMatch SCTID:60573004 Aortic valve stenosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001653 Mitral regurgitation biolink:PhenotypicFeature skos:exactMatch SCTID:48724000 Mitral valve regurgitation (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001655 Patent foramen ovale biolink:PhenotypicFeature skos:exactMatch SCTID:204317008 Patent foramen ovale (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001658 Myocardial infarction biolink:PhenotypicFeature skos:exactMatch SCTID:22298006 Myocardial infarction (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001659 Aortic regurgitation biolink:PhenotypicFeature skos:exactMatch SCTID:60234000 Aortic valve regurgitation (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001663 Ventricular fibrillation biolink:PhenotypicFeature skos:exactMatch SCTID:71908006 Ventricular fibrillation (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001664 Torsade de pointes biolink:PhenotypicFeature skos:exactMatch SCTID:31722008 Torsades de pointes (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001667 Right ventricular hypertrophy biolink:PhenotypicFeature skos:exactMatch SCTID:89792004 Right ventricular hypertrophy (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001681 Angina pectoris biolink:PhenotypicFeature skos:exactMatch SCTID:194828000 Angina (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001684 Secundum atrial septal defect biolink:PhenotypicFeature skos:exactMatch SCTID:204315000 Atrial septal defect within oval fossa (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001688 Sinus bradycardia biolink:PhenotypicFeature skos:exactMatch SCTID:49710005 Sinus bradycardia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001694 Right-to-left shunt biolink:PhenotypicFeature skos:exactMatch SCTID:441826000 Right to left cardiac shunt (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0001696 Situs inversus totalis biolink:PhenotypicFeature skos:exactMatch SCTID:43876007 Situs inversus viscerum (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HPO term has 'Situs inversus' as synonym. Unclear if 68716001 | Situs inversus abdominalis (disorder) could be a more appropriate mapping HP:0001704 Tricuspid valve prolapse biolink:PhenotypicFeature skos:exactMatch SCTID:253383003 Tricuspid valve prolapse (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001705 Right ventricular outlet tract obstruction biolink:PhenotypicFeature skos:exactMatch SCTID:253530007 Right ventricular outflow tract obstruction (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001706 Endocardial fibroelastosis biolink:PhenotypicFeature skos:exactMatch SCTID:65457005 Endocardial fibroelastosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001708 Right ventricular failure biolink:PhenotypicFeature skos:exactMatch SCTID:367363000 Right ventricular failure (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001716 Wolff-Parkinson-White syndrome biolink:PhenotypicFeature skos:exactMatch SCTID:74390002 Wolff-Parkinson-White pattern (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001717 Coronary artery calcification biolink:PhenotypicFeature skos:exactMatch SCTID:445512009 Calcification of coronary artery (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001722 High-output congestive heart failure biolink:PhenotypicFeature skos:broadMatch SCTID:42343007 Congestive heart failure (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0001723 Restrictive cardiomyopathy biolink:PhenotypicFeature skos:exactMatch SCTID:415295002 Restrictive cardiomyopathy (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001734 Annular pancreas biolink:PhenotypicFeature skos:exactMatch SCTID:40315008 Annular pancreas (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001735 Acute pancreatitis biolink:PhenotypicFeature skos:exactMatch SCTID:197456007 Acute pancreatitis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001737 Pancreatic cysts biolink:PhenotypicFeature skos:exactMatch SCTID:31258000 Cyst of pancreas (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001738 Exocrine pancreatic insufficiency biolink:PhenotypicFeature skos:exactMatch SCTID:47367009 Exocrine pancreatic insufficiency (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001741 Phimosis biolink:PhenotypicFeature skos:exactMatch SCTID:449826002 Phimosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration Secondary mapping: 253854008 | Congenital phimosis (disorder) HP:0001746 Asplenia biolink:PhenotypicFeature skos:exactMatch SCTID:707147002 Asplenia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001747 Accessory spleen biolink:PhenotypicFeature skos:exactMatch SCTID:10362008 Accessory spleen (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001748 Polysplenia biolink:PhenotypicFeature skos:exactMatch SCTID:10362008 Accessory spleen (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration Symptom ambiguity: HPO term has 'accessory spleens' as syn; SNOMED term combines them as well. HP:0001790 Nonimmune hydrops fetalis biolink:PhenotypicFeature skos:exactMatch SCTID:276509008 Non-immune hydrops fetalis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001791 Fetal ascites biolink:PhenotypicFeature skos:exactMatch SCTID:363125002 Fetal ascites (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001799 Short nail biolink:PhenotypicFeature skos:exactMatch SCTID:247488004 Brachyonychia (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0001803 Nail pits biolink:PhenotypicFeature skos:exactMatch SCTID:89704006 Pitting of nails (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001807 Ridged nail biolink:PhenotypicFeature skos:exactMatch SCTID:271768001 Ridged nails (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0001809 Split nail biolink:PhenotypicFeature skos:exactMatch SCTID:247493001 Splits in nails (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0001810 Dystrophic toenail biolink:PhenotypicFeature skos:broadMatch SCTID:700189007 Abnormality of nail of toe (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0001812 Hyperconvex fingernails biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0001814 Deep-set nails biolink:PhenotypicFeature skos:broadMatch SCTID:238715009 Developmental abnormality of nail (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0001818 Paronychia biolink:PhenotypicFeature skos:exactMatch SCTID:71906005 Paronychia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001821 Broad nail biolink:PhenotypicFeature skos:broadMatch SCTID:238715009 Developmental abnormality of nail (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration SNOMED does not seem to have a top-level abnormality for fingernails HP:0001920 Renal artery stenosis biolink:PhenotypicFeature skos:exactMatch SCTID:302233006 Renal artery stenosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0001962 Palpitations biolink:PhenotypicFeature skos:exactMatch SCTID:80313002 Palpitations (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0001971 Hypersplenism biolink:PhenotypicFeature skos:exactMatch SCTID:58381000 Hypersplenism (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002067 Bradykinesia biolink:PhenotypicFeature skos:exactMatch SCTID:399317006 Bradykinesia (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002068 Neuromuscular dysphagia biolink:PhenotypicFeature skos:broadMatch SCTID:40739000 Dysphagia (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0002070 Limb ataxia biolink:PhenotypicFeature skos:exactMatch SCTID:11145003 Single limb ataxia (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration Note the cardinality imposed by SNOMED HP:0002073 Progressive cerebellar ataxia biolink:PhenotypicFeature skos:exactMatch SCTID:230233000 Progressive cerebellar ataxia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002075 Dysdiadochokinesis biolink:PhenotypicFeature skos:exactMatch SCTID:23133003 Dysdiadochokinesis (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002077 Migraine with aura biolink:PhenotypicFeature skos:exactMatch SCTID:4473006 Migraine with aura (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002080 Intention tremor biolink:PhenotypicFeature skos:exactMatch SCTID:30721006 Intention tremor (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002083 Migraine without aura biolink:PhenotypicFeature skos:exactMatch SCTID:56097005 Migraine without aura (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002085 Occipital encephalocele biolink:PhenotypicFeature skos:exactMatch SCTID:42376006 Occipital encephalocele (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002127 Abnormal upper motor neuron morphology biolink:PhenotypicFeature skos:exactMatch SCTID:95647008 Upper motor neuron disease (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002131 Episodic ataxia biolink:PhenotypicFeature skos:exactMatch SCTID:421455009 Episodic ataxia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002132 Porencephalic cyst biolink:PhenotypicFeature skos:exactMatch SCTID:65705009 Porencephalic cyst (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002135 Basal ganglia calcification biolink:PhenotypicFeature skos:exactMatch SCTID:16818591000119108 Calcification of basal ganglia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002136 Broad-based gait biolink:PhenotypicFeature skos:exactMatch SCTID:25136009 Ataxic gait (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002138 Subarachnoid hemorrhage biolink:PhenotypicFeature skos:exactMatch SCTID:21454007 Subarachnoid intracranial hemorrhage (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002144 Tethered cord biolink:PhenotypicFeature skos:exactMatch SCTID:70534000 Occult spinal dysraphism sequence (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002168 Scanning speech biolink:PhenotypicFeature skos:exactMatch SCTID:77420001 Scanning speech (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002172 Postural instability biolink:PhenotypicFeature skos:closeMatch SCTID:282302006 Difficulty balancing (finding) biolink:PhenotypicFeature skos:closeMatch semapv:ManualMappingCuration Note: SCTID: 387603000 | Impairment of balance (finding) has multiple children with very close and slightly ambiguous semantics ok HP:0002173 Hypoglycemic seizures biolink:PhenotypicFeature skos:exactMatch SCTID:308680003 Hypoglycemia-induced convulsion (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002179 Opisthotonus biolink:PhenotypicFeature skos:exactMatch SCTID:8652009 Opisthotonus (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002181 Cerebral edema biolink:PhenotypicFeature skos:exactMatch SCTID:2032001 Cerebral edema (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002183 Phonophobia biolink:PhenotypicFeature skos:exactMatch SCTID:313387002 Phonophobia (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002185 Neurofibrillary tangles biolink:PhenotypicFeature skos:exactMatch SCTID:85775002 Neurofibrillary degeneration (morphologic abnormality) semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002187 Intellectual disability, profound biolink:PhenotypicFeature skos:exactMatch SCTID:31216003 Profound intellectual disability (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002190 Choroid plexus cyst biolink:PhenotypicFeature skos:exactMatch SCTID:230790004 Choroid plexus cyst (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002193 Pseudobulbar behavioral symptoms biolink:PhenotypicFeature skos:exactMatch SCTID:432776007 Pseudobulbar affect (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002199 Hypocalcemic seizures biolink:PhenotypicFeature skos:broadMatch SCTID:230431001 Situation-related seizures (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0002203 Respiratory paralysis biolink:PhenotypicFeature skos:exactMatch SCTID:95430002 Respiratory tract paralysis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002835 Aspiration biolink:PhenotypicFeature skos:exactMatch SCTID:68052005 Pulmonary aspiration (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002836 Bladder exstrophy biolink:PhenotypicFeature skos:exactMatch SCTID:61758007 Exstrophy of bladder sequence (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002839 Urinary bladder sphincter dysfunction biolink:PhenotypicFeature skos:narrowMatch SCTID:370555000 Urinary incontinence due to urethral sphincter incompetence (finding) biolink:PhenotypicFeature semapv:findingToFindingNarrowMatch semapv:ManualMappingCuration HP:0002840 Lymphadenitis biolink:PhenotypicFeature skos:exactMatch SCTID:19471005 Lymphadenitis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002847 Impaired memory B cell generation biolink:PhenotypicFeature skos:broadMatch SCTID:12814002 B lymphocyte disorder (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0002848 Decreased specific anti-polysaccharide antibody level biolink:PhenotypicFeature skos:exactMatch SCTID:234557006 Anti-polysaccharide antibody deficiency (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002849 Absence of lymph node germinal center biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration ok - an appropriate match might be SCTID:76616003 Disorder of lymph node (disorder) --> findingToDisorderBroadMatch HP:0002865 Medullary thyroid carcinoma biolink:PhenotypicFeature skos:exactMatch SCTID:255032005 Medullary thyroid carcinoma (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002870 Obstructive sleep apnea biolink:PhenotypicFeature skos:exactMatch SCTID:78275009 Obstructive sleep apnea syndrome (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002875 Exertional dyspnea biolink:PhenotypicFeature skos:exactMatch SCTID:60845006 Dyspnea on exertion (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002876 Episodic tachypnea biolink:PhenotypicFeature skos:broadMatch SCTID:271823003 Tachypnea (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0002877 Nocturnal hypoventilation biolink:PhenotypicFeature skos:exactMatch SCTID:443760008 Sleep hypoventilation (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002878 Respiratory failure biolink:PhenotypicFeature skos:exactMatch SCTID:409622000 Respiratory failure (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002882 Sudden episodic apnea biolink:PhenotypicFeature skos:broadMatch SCTID:416945002 Recurrent apnea (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0002884 Hepatoblastoma biolink:PhenotypicFeature skos:exactMatch SCTID:109843000 Hepatoblastoma (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002886 Vagal paraganglioma biolink:PhenotypicFeature skos:exactMatch SCTID:253030004 Glomus vagale tumor (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002888 Ependymoma biolink:PhenotypicFeature skos:exactMatch SCTID:1186904005 Ependymoma (morphologic abnormality) semapv:findingToFindingExactMatch semapv:ManualMappingCuration Secondary mapping: 443643007 | Ependymoma (disorder) HP:0002891 Uterine leiomyosarcoma biolink:PhenotypicFeature skos:exactMatch SCTID:447389009 Leiomyosarcoma of uterus (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002895 Papillary thyroid carcinoma biolink:PhenotypicFeature skos:exactMatch SCTID:255029007 Papillary thyroid carcinoma (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002897 Parathyroid adenoma biolink:PhenotypicFeature skos:exactMatch SCTID:128474007 Parathyroid adenoma (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002902 Hyponatremia biolink:PhenotypicFeature skos:exactMatch SCTID:89627008 Hyponatremia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002905 Hyperphosphatemia biolink:PhenotypicFeature skos:exactMatch SCTID:20165001 Hyperphosphatemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002907 Microscopic hematuria biolink:PhenotypicFeature skos:exactMatch SCTID:197940006 Microscopic hematuria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002908 Conjugated hyperbilirubinemia biolink:PhenotypicFeature skos:exactMatch SCTID:9326001 Conjugated hyperbilirubinemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002909 Generalized aminoaciduria biolink:PhenotypicFeature skos:broadMatch SCTID:35912001 Aminoaciduria (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0002912 Methylmalonic acidemia biolink:PhenotypicFeature skos:exactMatch SCTID:42393006 Methylmalonic acidemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002917 Hypomagnesemia biolink:PhenotypicFeature skos:exactMatch SCTID:190855004 Hypomagnesemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002918 Hypermagnesemia biolink:PhenotypicFeature skos:exactMatch SCTID:66978005 Hypermagnesemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002922 Increased CSF protein biolink:PhenotypicFeature skos:exactMatch SCTID:167734003 Cerebrospinal fluid protein - increased + (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002925 Elevated circulating thyroid-stimulating hormone concentration biolink:PhenotypicFeature skos:exactMatch SCTID:309080005 Raised thyroid stimulating hormone level (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0002927 Histidinuria biolink:PhenotypicFeature skos:exactMatch SCTID:78311009 Histidine transport defect (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002929 Leydig cell insensitivity to gonadotropin biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0002930 Impaired sensitivity to thyroid hormone biolink:PhenotypicFeature skos:exactMatch SCTID:237559000 Thyroid hormone resistance syndrome (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002932 Aldehyde oxidase deficiency biolink:PhenotypicFeature skos:exactMatch SCTID:124161002 Deficiency of aldehyde oxidase (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002933 Ventral hernia biolink:PhenotypicFeature skos:exactMatch SCTID:414396006 Hernia of anterior abdominal wall (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002959 Impaired Ig class switch recombination biolink:PhenotypicFeature skos:broadMatch SCTID:12814002 B lymphocyte disorder (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0002961 Dysgammaglobulinemia biolink:PhenotypicFeature skos:exactMatch SCTID:123782009 Dysgammaglobulinemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0002972 Reduced delayed hypersensitivity biolink:PhenotypicFeature skos:broadMatch SCTID:28031001 Cell-mediated immune reaction (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0003001 Glomus jugular tumor biolink:PhenotypicFeature skos:exactMatch SCTID:32037004 Glomus jugulare tumor (morphologic abnormality) semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0003003 Colon cancer biolink:PhenotypicFeature skos:exactMatch SCTID:363406005 Malignant neoplasm of colon (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003009 Enhanced neurotoxicity of vincristine biolink:PhenotypicFeature skos:exactMatch SCTID:129663002 Neurotoxicity caused by vincristine (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003073 Hypoalbuminemia biolink:PhenotypicFeature skos:exactMatch SCTID:119247004 Hypoalbuminemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003076 Glycosuria biolink:PhenotypicFeature skos:exactMatch SCTID:45154002 Glycosuria (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0003079 Defective DNA repair after ultraviolet radiation damage biolink:PhenotypicFeature skos:broadMatch SCTID:28965003 Deficiency of deoxyribonucleic acid repair (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003080 Hydroxyprolinuria biolink:PhenotypicFeature skos:broadMatch SCTID:37800003 Disorder of proline AND/OR hydroxyproline metabolism (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0003080 Hydroxyprolinuria biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003108 Hyperglycinuria biolink:PhenotypicFeature skos:exactMatch SCTID:236477004 Glycinuria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003109 Hyperphosphaturia biolink:PhenotypicFeature skos:exactMatch SCTID:22450000 Hyperphosphaturia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003113 Hypochloremia biolink:PhenotypicFeature skos:exactMatch SCTID:10399008 Hypochloremia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003124 Hypercholesterolemia biolink:PhenotypicFeature skos:exactMatch SCTID:13644009 Hypercholesterolemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003126 Low-molecular-weight proteinuria biolink:PhenotypicFeature skos:broadMatch SCTID:29738008 Proteinuria (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003127 Hypocalciuria biolink:PhenotypicFeature skos:exactMatch SCTID:86353007 Hypocalciuria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003131 Cystinuria biolink:PhenotypicFeature skos:exactMatch SCTID:85020001 Cystinuria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003137 Prolinuria biolink:PhenotypicFeature skos:exactMatch SCTID:53124003 Prolinuria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003138 Increased blood urea nitrogen biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003139 Panhypogammaglobulinemia biolink:PhenotypicFeature skos:broadMatch SCTID:119250001 Hypogammaglobulinemia (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003140 T-wave inversion in the right precordial leads biolink:PhenotypicFeature skos:broadMatch SCTID:59931005 Inverted T wave (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003141 Increased LDL cholesterol concentration biolink:PhenotypicFeature skos:broadMatch SCTID:3744001 Hyperlipoproteinemia (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0003142 Excessive purine production biolink:PhenotypicFeature skos:broadMatch SCTID:32612005 Disorder of purine metabolism (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0003146 Hypocholesterolemia biolink:PhenotypicFeature skos:exactMatch SCTID:61336008 Hypocholesterolemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003148 Elevated serum acid phosphatase biolink:PhenotypicFeature skos:exactMatch SCTID:166579007 Serum acid phosphatase raised (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0003149 Hyperuricosuria biolink:PhenotypicFeature skos:broadMatch SCTID:49099001 Increased uric acid level (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003150 Glutaric aciduria biolink:PhenotypicFeature skos:exactMatch SCTID:28987007 Glutaric aciduria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003153 Cystathioninuria biolink:PhenotypicFeature skos:exactMatch SCTID:13003007 Cystathioninuria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003159 Hyperoxaluria biolink:PhenotypicFeature skos:exactMatch SCTID:367621000119107 Hyperoxaluria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003161 4-Hydroxyphenylpyruvic aciduria biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003162 Fasting hypoglycemia biolink:PhenotypicFeature skos:exactMatch SCTID:6974005 Fasting hypoglycemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003164 Hypothalamic gonadotropin-releasing hormone deficiency biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003165 Elevated circulating parathyroid hormone level biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003167 Carnosinuria biolink:PhenotypicFeature skos:exactMatch SCTID:410051001 Carnosinuria (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003209 Decreased pyruvate carboxylase activity biolink:PhenotypicFeature skos:exactMatch SCTID:87694001 Pyruvate carboxylase deficiency (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003210 Decreased methylmalonyl-CoA mutase activity biolink:PhenotypicFeature skos:exactMatch SCTID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003214 Prolonged G2 phase of cell cycle biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003216 Generalized amyloid deposition biolink:PhenotypicFeature skos:broadMatch SCTID:68790008 Amyloid deposition (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003217 Hyperglutaminemia biolink:PhenotypicFeature skos:broadMatch SCTID:190724004 Disorder of glutamine metabolism (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0003219 Ethylmalonic aciduria biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003221 Chromosomal breakage induced by crosslinking agents biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003224 Increased cellular sensitivity to UV light biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003228 Hypernatremia biolink:PhenotypicFeature skos:exactMatch SCTID:771115008 Hypernatremia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003231 Hypertyrosinemia biolink:PhenotypicFeature skos:exactMatch SCTID:56595005 Hypertyrosinemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003233 Decreased HDL cholesterol concentration biolink:PhenotypicFeature skos:exactMatch SCTID:190785000 Hypoalphalipoproteinemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003235 Hypermethioninemia biolink:PhenotypicFeature skos:exactMatch SCTID:43123004 Hypermethioninemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003238 Hyperpepsinogenemia I biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003240 Increased phosphoribosylpyrophosphate synthetase level biolink:PhenotypicFeature skos:exactMatch SCTID:723454008 Phosphoribosylpyrophosphate synthetase superactivity (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003258 Glyoxalase deficiency biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003259 Elevated circulating creatinine concentration biolink:PhenotypicFeature skos:exactMatch SCTID:166717003 Serum creatinine raised (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0003260 Hydroxyprolinemia biolink:PhenotypicFeature skos:exactMatch SCTID:25739007 Hyperhydroxyprolinemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003264 Deficiency of N-acetylglucosamine-1-phosphotransferase biolink:PhenotypicFeature skos:exactMatch SCTID:70199000 I-cell disease (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003265 Neonatal hyperbilirubinemia biolink:PhenotypicFeature skos:exactMatch SCTID:281610001 Neonatal hyperbilirubinemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003269 Sudanophilic leukodystrophy biolink:PhenotypicFeature skos:exactMatch SCTID:64855000 Pelizaeus-Merzbacher disease (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003281 Increased circulating ferritin concentration biolink:PhenotypicFeature skos:exactMatch SCTID:390943009 Serum ferritin high (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0003286 Cystathioninemia biolink:PhenotypicFeature skos:exactMatch SCTID:6669004 Cystathioninemia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003288 Mitochondrial propionyl-CoA carboxylase defect biolink:PhenotypicFeature skos:broadMatch SCTID:133791000119107 Mitochondrial metabolism defect (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0003296 Hyperthreoninuria biolink:PhenotypicFeature skos:broadMatch SCTID:190722000 Disorder of threonine metabolism (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0003338 Focal necrosis of right ventricular muscle cells biolink:PhenotypicFeature skos:broadMatch SCTID:52739002 Focal necrosis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003341 Subepidermal blistering with cleavage in the lamina lucida biolink:PhenotypicFeature skos:broadMatch SCTID:339008 Blister (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Possibly related to: 721542002 | Acute blistering eruption of skin (disorder) HP:0003357 Thymic hormone decreased biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003363 Abdominal situs inversus biolink:PhenotypicFeature skos:exactMatch SCTID:68716001 Situs inversus abdominalis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003376 Steppage gait biolink:PhenotypicFeature skos:exactMatch SCTID:27253007 Foot-drop gait (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0003378 Axonal degeneration/regeneration biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003382 Hypertrophic nerve changes biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003384 Peripheral axonal atrophy biolink:PhenotypicFeature skos:broadMatch SCTID:302226006 Peripheral nerve disease (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0003387 Decreased number of large peripheral myelinated nerve fibers biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003388 Easy fatigability biolink:PhenotypicFeature skos:exactMatch SCTID:248268002 Tires quickly (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0003396 Syringomyelia biolink:PhenotypicFeature skos:exactMatch SCTID:111496009 Syringomyelia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction biolink:PhenotypicFeature skos:broadMatch SCTID:398152000 Poor muscle tone (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003400 Basal lamina onion bulb formation biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003402 Decreased miniature endplate potentials biolink:PhenotypicFeature skos:narrowMatch SCTID:230678005 Decrease of motor end-plate potential amplitude without acetylcholine receptor deficiency (disorder) biolink:Disease semapv:findingToFindingNarrowMatch semapv:ManualMappingCuration HP:0003405 Diffuse axonal swelling biolink:PhenotypicFeature skos:broadMatch SCTID:125389000 Axonal swelling (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003406 Peripheral nerve compression biolink:PhenotypicFeature skos:exactMatch SCTID:45781009 Peripheral nerve entrapment syndrome (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003431 Decreased motor nerve conduction velocity biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003434 Sensory ataxic neuropathy biolink:PhenotypicFeature skos:narrowMatch SCTID:766049000 Acute sensory ataxic neuropathy (disorder) biolink:Disease semapv:findingToFindingNarrowMatch semapv:ManualMappingCuration HP:0003436 Prolonged miniature endplate currents biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003438 Absent Achilles reflex biolink:PhenotypicFeature skos:exactMatch SCTID:274818004 Ankle reflex absent (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0003443 Decreased size of nerve terminals biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003447 Axonal loss biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003448 Decreased sensory nerve conduction velocity biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003472 Hypocalcemic tetany biolink:PhenotypicFeature skos:exactMatch SCTID:190869004 Hypocalcemic tetany (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003481 Segmental peripheral demyelination/remyelination biolink:PhenotypicFeature skos:broadMatch SCTID:8723003 Segmental demyelination (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0003487 Babinski sign biolink:PhenotypicFeature skos:exactMatch SCTID:366575004 Extensor plantar response finding (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0003489 Acute episodes of neuropathic symptoms biolink:PhenotypicFeature skos:broadMatch SCTID:302226006 Peripheral nerve disease (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0003574 Positive regitine blocking test biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0003759 Hypoplasia of lymphatic vessels biolink:PhenotypicFeature skos:exactMatch SCTID:234113000 Hypoplastic lymph vessel (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration NOTE: Inconsitency in terminology in SNOMED: top level term refers to 'lymphatic vessel'; lower terms refer to 'lymph vessel' HP:0003763 Bruxism biolink:PhenotypicFeature skos:exactMatch SCTID:191983006 Bruxism (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003765 Psoriasiform dermatitis biolink:PhenotypicFeature skos:exactMatch SCTID:52230004 Psoriasiform dermatitis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003777 Pili torti biolink:PhenotypicFeature skos:exactMatch SCTID:17170005 Pili torti (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0003785 Decreased CSF homovanillic acid biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0004383 Hypoplastic left heart biolink:PhenotypicFeature skos:exactMatch SCTID:62067003 Hypoplastic left heart syndrome (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004384 Type I truncus arteriosus biolink:PhenotypicFeature skos:exactMatch SCTID:73699003 Common arterial trunk and common origin of pulmonary arteries (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004385 Protracted diarrhea biolink:PhenotypicFeature skos:exactMatch SCTID:236077008 Protracted diarrhea (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0004388 Microcolon biolink:PhenotypicFeature skos:exactMatch SCTID:18389004 Microcolon (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004416 Precocious atherosclerosis biolink:PhenotypicFeature skos:broadMatch SCTID:38716007 Atherosclerosis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0004417 Intermittent claudication biolink:PhenotypicFeature skos:exactMatch SCTID:63491006 Intermittent claudication (finding) biolink:PhenotypicFeature semapv:findingToFindingExactMatch semapv:ManualMappingCuration HP:0004463 Absent brainstem auditory responses biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0004464 Postauricular pit biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration ok HP:0004466 Prolonged brainstem auditory evoked potentials biolink:PhenotypicFeature skos:broadMatch SCTID:251608007 Brainstem auditory evoked potential finding (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0004469 Chronic bronchitis biolink:PhenotypicFeature skos:exactMatch SCTID:63480004 Chronic bronchitis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004478 Ethmoidal encephalocele biolink:PhenotypicFeature skos:broadMatch SCTID:838339009 Basal encephalocele (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration ok HP:0004485 Cessation of head growth biolink:PhenotypicFeature skos:broadMatch SCTID:253130001 Secondary microcephaly (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004523 Long eyebrows biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0004527 Large clumps of pigment irregularly distributed along hair shaft biolink:PhenotypicFeature skos:broadMatch SCTID:110438001 Localized melanin pigmentation (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration ok - if localization is more important, altenative match might be SCTID:267811000 Disorder of hair shaft (disorder) --> findingToDisorderBroadMatch HP:0004529 Atrophic, patchy alopecia biolink:PhenotypicFeature skos:broadMatch SCTID:68225006 Alopecia areata (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004552 Scarring alopecia of scalp biolink:PhenotypicFeature skos:exactMatch SCTID:400088006 Scarring alopecia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004601 Spina bifida occulta at L5 biolink:PhenotypicFeature skos:broadMatch SCTID:76916001 Spina bifida occulta (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004614 Spina bifida occulta at S1 biolink:PhenotypicFeature skos:broadMatch SCTID:76916001 Spina bifida occulta (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004661 Frontalis muscle weakness biolink:PhenotypicFeature skos:broadMatch SCTID:280816001 Facial palsy (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004664 Facial midline hemangioma biolink:PhenotypicFeature skos:broadMatch SCTID:448610006 Hemangioma of face (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004681 Deep longitudinal plantar crease biolink:PhenotypicFeature skos:broadMatch SCTID:95469008 Abnormal plantar creases (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004751 Paroxysmal ventricular tachycardia biolink:PhenotypicFeature skos:exactMatch SCTID:66657009 Paroxysmal ventricular tachycardia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004754 Permanent atrial fibrillation biolink:PhenotypicFeature skos:exactMatch SCTID:440028005 Permanent atrial fibrillation (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004757 Paroxysmal atrial fibrillation biolink:PhenotypicFeature skos:exactMatch SCTID:282825002 Paroxysmal atrial fibrillation (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004758 Effort-induced polymorphic ventricular tachycardia biolink:PhenotypicFeature skos:exactMatch SCTID:419671004 Catecholaminergic polymorphic ventricular tachycardia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004761 Post-angioplasty coronary artery restenosis biolink:PhenotypicFeature skos:broadMatch SCTID:43026009 Restenosis (morphologic abnormality) semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004762 Hypoplasia of right ventricle biolink:PhenotypicFeature skos:exactMatch SCTID:2829000 Uhl's disease (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004764 Myxomatous mitral valve degeneration biolink:PhenotypicFeature skos:exactMatch SCTID:42069006 Myxoid transformation of mitral valve (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004768 Sparse anterior scalp hair biolink:PhenotypicFeature skos:broadMatch SCTID:1162675003 Sparse hair (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0004771 Premature graying of body hair biolink:PhenotypicFeature skos:broadMatch SCTID:387833009 Premature canities (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004779 Brittle scalp hair biolink:PhenotypicFeature skos:broadMatch SCTID:25159003 Brittle hair (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004875 Neonatal inspiratory stridor biolink:PhenotypicFeature skos:broadMatch SCTID:58596002 Inspiratory stridor (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0004876 Spontaneous neonatal pneumothorax biolink:PhenotypicFeature skos:broadMatch SCTID:80423007 Spontaneous pneumothorax (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004878 Intercostal muscle weakness biolink:PhenotypicFeature skos:broadMatch SCTID:26544005 Muscle weakness (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0004880 Respiratory infections in early life biolink:PhenotypicFeature skos:broadMatch SCTID:275498002 Respiratory tract infection (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004881 Episodic hypoventilation biolink:PhenotypicFeature skos:broadMatch SCTID:31515003 Hypoventilation (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0004885 Episodic respiratory distress biolink:PhenotypicFeature skos:broadMatch SCTID:271825005 Respiratory distress (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0004886 Congenital laryngeal stridor biolink:PhenotypicFeature skos:exactMatch SCTID:55490007 Congenital laryngeal stridor (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness biolink:PhenotypicFeature skos:broadMatch SCTID:409623005 Respiratory insufficiency (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004891 Recurrent infections due to aspiration biolink:PhenotypicFeature skos:broadMatch SCTID:275498002 Respiratory tract infection (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration Recurrent respiratory tract infection is missing, however, children exist: 195708003 | Recurrent upper respiratory tract infection (disorder); 448739000 | Recurrent lower respiratory tract infection (disorder) HP:0004894 Laryngotracheal stenosis biolink:PhenotypicFeature skos:narrowMatch SCTID:204550009 Congenital stenosis of larynx, trachea and bronchus (disorder) biolink:Disease semapv:findingToFindingNarrowMatch semapv:ManualMappingCuration HP:0004926 Orthostatic hypotension due to autonomic dysfunction biolink:PhenotypicFeature skos:broadMatch SCTID:28651003 Orthostatic hypotension (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004931 Arteriosclerosis of small cerebral arteries biolink:PhenotypicFeature skos:broadMatch SCTID:65312002 Cerebral arteriosclerosis (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004933 Ascending aortic dissection biolink:PhenotypicFeature skos:exactMatch SCTID:724442004 Dissection of ascending aorta and aortic arch (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004935 Pulmonary artery atresia biolink:PhenotypicFeature skos:exactMatch SCTID:10930001 Congenital atresia of pulmonary artery (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004937 Pulmonary artery aneurysm biolink:PhenotypicFeature skos:exactMatch SCTID:194892009 Pulmonary artery aneurysm (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004938 Tortuous cerebral arteries biolink:PhenotypicFeature skos:exactMatch sssom:NoTermFound skos:mappingRelation semapv:ManualMappingCuration HP:0004960 Absent pulmonary artery biolink:PhenotypicFeature skos:exactMatch SCTID:86252004 Agenesis of pulmonary artery (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004964 Pulmonary arterial medial hypertrophy biolink:PhenotypicFeature skos:broadMatch SCTID:128588008 Anomalous pulmonary artery (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mappings: 36110001 | Congenital anomaly of pulmonary artery (disorder); 251039005 | Pulmonary artery finding (finding) HP:0004968 Recurrent cerebral hemorrhage biolink:PhenotypicFeature skos:broadMatch SCTID:274100004 Cerebral hemorrhage (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0004969 Peripheral pulmonary artery stenosis biolink:PhenotypicFeature skos:exactMatch SCTID:253631001 Peripheral pulmonary artery stenosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0004971 Pulmonary artery hypoplasia biolink:PhenotypicFeature skos:exactMatch SCTID:54682008 Congenital hypoplasia of pulmonary artery (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0005220 Multiple intestinal neurofibromatosis biolink:PhenotypicFeature skos:broadMatch SCTID:81669005 Neurofibromatosis (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0005241 Total intestinal aganglionosis biolink:PhenotypicFeature skos:exactMatch SCTID:204745000 Total intestinal aganglionosis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0005304 Hypoplastic pulmonary veins biolink:PhenotypicFeature skos:exactMatch SCTID:446432002 Pulmonary venous hypoplasia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0005307 Postural hypotension with compensatory tachycardia biolink:PhenotypicFeature skos:exactMatch SCTID:371073003 Postural orthostatic tachycardia syndrome (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0005308 Pulmonary artery vasoconstriction biolink:PhenotypicFeature skos:broadMatch SCTID:251039005 Pulmonary artery finding (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration Secondary mapping: 36110001 | Congenital anomaly of pulmonary artery (disorder) HP:0005318 Cerebral vasculitis biolink:PhenotypicFeature skos:exactMatch SCTID:427020007 Cerebral vasculitis (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0005320 Lack of facial subcutaneous fat biolink:PhenotypicFeature skos:broadMatch SCTID:248316006 Loss of subcutaneous fat (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0005328 Progeroid facial appearance biolink:PhenotypicFeature skos:broadMatch SCTID:88587007 Premature aging (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0005336 Forehead hyperpigmentation biolink:PhenotypicFeature skos:broadMatch SCTID:4830009 Hyperpigmentation (morphologic abnormality) semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0005341 Autonomic bladder dysfunction biolink:PhenotypicFeature skos:broadMatch SCTID:40492006 Bladder dysfunction (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0007950 Peripapillary chorioretinal atrophy biolink:PhenotypicFeature skos:broadMatch SCTID:95686007 Chorioretinal atrophy (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0007958 Optic atrophy from cranial nerve compression biolink:PhenotypicFeature skos:exactMatch SCTID:312944002 Compressive optic atrophy (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0007962 Speckled corneal dystrophy biolink:PhenotypicFeature skos:exactMatch SCTID:417183007 Fleck corneal dystrophy (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0007965 Undetectable visual evoked potentials biolink:PhenotypicFeature skos:broadMatch SCTID:102968003 Abnormal visual evoked potential (finding) biolink:PhenotypicFeature semapv:findingToFindingBroadMatch semapv:ManualMappingCuration HP:0007973 Retinal dysplasia biolink:PhenotypicFeature skos:exactMatch SCTID:95494009 Retinal dysplasia (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration HP:0007975 Hypometric horizontal saccades biolink:PhenotypicFeature skos:broadMatch SCTID:246768008 Hypometric saccades (disorder) biolink:Disease semapv:findingToDisorderBroadMatch semapv:ManualMappingCuration HP:0007976 Cerulean cataract biolink:PhenotypicFeature skos:exactMatch SCTID:204138006 Congenital blue dot cataract (disorder) biolink:Disease semapv:findingToDisorderExactMatch semapv:ManualMappingCuration